MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: Coding and Control Region Point Mutations

The GB frequency data in Mitomap is derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. We will be updating and refining this set of sequences on a regular basis. As a caveat, please note that GenBank sequences may not be of equal quality (Yao, et al, 2009), that some of these sequences are from individuals with past, current or future disease, and that this portion of our data set has not been hand-curated by Mitomap.

For more details about the current GenBank sequence set, please see http://www.mitomap.org/MITOMAP/GBFreqInfo

Locus	Disease	Allele	Nucleotide Position	Nucleotide Change	Amino Acid Change	Homo-plasmy	Hetero-plasmy	Status	References
114	MT-CR	BD-associated	C114T	C-T	noncoding	+	-	Reported	0.442%  (0.146%)	229 (109)	1
146	MT-CR	Absence of Endometriosis	T146C	T-C	noncoding	+	-	Reported	19.510%  (11.583%)	10113 (8672)	1
150	MT-CR	Longevity / Cervical Carcinoma / HPV infection risk	C150T	C-T	noncoding	+	+	Conflicting reports	13.188%  (9.561%)	6836 (7158)	8
185	MT-CR	Low VO2max response	G185A	G-A	noncoding	+	-	Reported	3.999%  (2.021%)	2073 (1513)	1
195	MT-CR	BD-associated / melanoma pts	T195C	T-C	noncoding	+	+	Reported	19.228%  (11.673%)	9967 (8739)	3
228	MT-CR	Low VO2max response	G228A	G-A	noncoding	+	-	Reported	2.579%  (0.844%)	1337 (632)	1
295	MT-CR	Low VO2max response	C295T	C-T	noncoding	+	-	Reported	4.696%  (1.781%)	2434 (1333)	2
302	MT-CR	Higher in melanoma patient group	A302ACC	A-ACC	noncoding	nr	nr	Reported	0.336% (0.020%)	174 (15)	1
309	MT-CR	AD-weakly associated	C309CC	C-CC	noncoding	nr	nr	Reported	1.142% (1.274%)	592 (954)	1
310	MT-CR	Possible protective factor for normal tension glaucoma	T310C	T-C	noncoding			Reported	40.889%  (27.693%)	21195 (20733)	1
310	MT-CR	Melanoma patients	T310TC	T-TC	noncoding	nr	nr	Reported	0.000% (0.000%)	0 (0)	1
462	MT-CR	Low VO2max response	C462T	C-T	noncoding	+	-	Reported	3.444%  (0.935%)	1785 (700)	2
489	MT-CR	Low VO2max response	T489C	T-C	noncoding	+	-	Reported	25.824%  (14.219%)	13386 (10645)	1
499	MT-CR	Endometriosis	G499A	G-A	noncoding	+	-	Reported	3.606%  (1.918%)	1869 (1436)	1
547	MT-CR	Tubulointerstitial kidney disease	A547T	A-T	noncoding	+	-	Reported	0.000% (0.000%)	0 (0)	1
573	MT-CR	Absence of Endometriosis	C573CCC	C-CCC	noncoding	+	-	Reported	0.000% (0.027%)	0 (20)	1
3308	MT-ND1	MELAS / DEAF enhancer / hypertension / LVNC / putative LHON	T3308C	T-C	M-T	-	+	P.M.-possibly synergistic	0.658%  (0.000%)	341 (0)	15
3308	MT-ND1	Sudden Infant Death	T3308G	T-G	M-Term	+	+	Reported	0.012% (0.000%)	6 (0)	1
3310	MT-ND1	Diabetes / HCM	C3310T	C-T	P-S	+	+	Reported	0.023% (0.000%)	12 (0)	5
3316	MT-ND1	Diabetes / LHON / PEO	G3316A	G-A	A-T	+	-	Unclear	0.984%  (0.000%)	510 (0)	21
3335	MT-ND1	LHON	T3335C	T-C	I-T	+	-	Reported	0.104% (0.000%)	54 (0)	1
3336	MT-ND1	Carotid atherosclerosis risk	T3336C	T-C	I-I	-	+	Reported	0.374%  (0.000%)	194 (0)	3
3337	MT-ND1	Cardiomyopathy	G3337A	G-A	V-M	+	-	Possibly synergistic	0.154% (0.000%)	80 (0)	2
3340	MT-ND1	Encephaloneuromyopathy	C3340T	C-T	P-S	+	-	Reported	0.006% (0.000%)	3 (0)	2
3376	MT-ND1	LHON MELAS overlap	G3376A	G-A	E-K	+	+	Cfrm	0.000% (0.000%)	0 (0)	3
3380	MT-ND1	MELAS	G3380A	G-A	R-Q	-	+	Reported	0.006% (0.000%)	3 (0)	1
3388	MT-ND1	Materally Inherited Nonsyndromic Deafness	C3388A	C-A	L-M	nr	nr	Reported	0.035% (0.000%)	18 (0)	1
3391	MT-ND1	LHON	G3391A	G-A	G-S	+	-	Reported	0.100% (0.000%)	52 (0)	1
3394	MT-ND1	LHON / Diabetes / CPTdeficiency / high altitude adaptation	T3394C	T-C	Y-H	+	-	Reported / Population-dependent	1.235%  (0.000%)	640 (0)	35
3395	MT-ND1	LHON / HCM with hearing loss	A3395G	A-G	Y-C	+	+	Reported	0.050% (0.000%)	26 (0)	3
3396	MT-ND1	NSHL / MIDD	T3396C	T-C	Y-Y	+	-	Reported / Unclear	0.777%  (0.000%)	403 (0)	2
3397	MT-ND1	ADPD / possibly LVNC-cardiomyopathy associated / resistance to high altitude pulmonary edema	A3397G	A-G	M-V	+	-	Reported	0.305%  (0.000%)	158 (0)	11
3398	MT-ND1	DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated	T3398C	T-C	M-T	+	-	Reported	0.448%  (0.000%)	232 (0)	5
3399	MT-ND1	Gestational Diabetes (GDM)	A3399T	A-T	M-I	+	-	Reported	0.050% (0.000%)	26 (0)	1
3407	MT-ND1	HCM / Muscle involvement	G3407A	G-A	R-H	+	-	Conflicting reports	0.002% (0.000%)	1 (0)	3
3418	MT-ND1	AMegL	A3418G	A-G	N-D	+	-	Reported	0.002% (0.000%)	1 (0)	1
3421	MT-ND1	MIDD	G3421A	G-A	V-I	+	-	Reported	0.139% (0.000%)	72 (0)	2
3460	MT-ND1	LHON	G3460A	G-A	A-T	+	+	Cfrm	0.060% (0.000%)	31 (0)	170
3472	MT-ND1	LHON	T3472C	T-C	F-L	+	+	Reported	0.010% (0.000%)	5 (0)	7
3481	MT-ND1	MELAS / Progressive Encephalomyopathy	G3481A	G-A	E-K	-	+	Reported	0.000% (0.000%)	0 (0)	3
3488	MT-ND1	LHON	T3488C	T-C	L-P	+	-	Reported	0.002% (0.000%)	1 (0)	1
3496	MT-ND1	LHON	G3496T	G-T	A-S	+	-	Reported / Secondary	0.025% (0.000%)	13 (0)	3
3497	MT-ND1	LHON	C3497T	C-T	A-V	+	-	Reported / Secondary	0.357%  (0.000%)	185 (0)	5
3551	MT-ND1	LHON	C3551T	C-T	A-V	+	-	Reported	0.000% (0.000%)	0 (0)	1
3552	MT-ND1	Resistance to high altitude pulmonary edema (HAPE)	T3552A	T-A	A-A	+	-	Reported /hg C marker	3.409%  (0.000%)	1767 (0)	1
3571	MT-ND1	Possible LHON helper mut.	C3571T	C-T	L-F	nr	nr	Reported	0.237% (0.000%)	123 (0)	3
3632	MT-ND1	LHON	C3632T	C-T	S-F	+	-	Reported	0.000% (0.000%)	0 (0)	1
3634	MT-ND1	LHON	A3634G	A-G	S-G	+	-	Reported	0.000% (0.000%)	0 (0)	1
3635	MT-ND1	LHON	G3635A	G-A	S-N	+	-	Cfrm	0.017% (0.000%)	9 (0)	13
3644	MT-ND1	BD-associated	T3644C	T-C	V-A	nr	nr	Reported	0.409%  (0.000%)	212 (0)	4
3667	MT-ND1	Peripheral neuropathy of T2 diabetes	T3667G	T-G	W-G	+	-	Reported	0.002% (0.000%)	1 (0)	1
3688	MT-ND1	Leigh Syndrome	G3688A	G-A	A-T	+	-	Reported	0.000% (0.000%)	0 (0)	2
3697	MT-ND1	MELAS / Leigh Syndrome / LDYT / BSN	G3697A	G-A	G-S	+	+	Cfrm	0.000% (0.000%)	0 (0)	15
3700	MT-ND1	LHON	G3700A	G-A	A-T	+	-	Cfrm	0.006% (0.000%)	3 (0)	5
3713	MT-ND1	LHON	T3713C	T-C	V-A	+	-	Reported	0.000% (0.000%)	0 (0)	1
3733	MT-ND1	LHON	G3733A	G-A	E-K	+	+	Cfrm	0.004% (0.000%)	2 (0)	9
3733	MT-ND1	LHON	G3733C	G-C	E-Q	-	+	Reported	0.000% (0.000%)	0 (0)	1
3736	MT-ND1	LHON	G3736A	G-A	V-I	nr	nr	Reported	0.164% (0.000%)	85 (0)	2
3745	MT-ND1	LHON / high altitude variant	G3745A	G-A	A-T	+	+	Reported / Population-dependent	0.201% (0.000%)	104 (0)	4
3761	MT-ND1	Deafness w relapsing/remitting neurological symptoms	C3761A	C-A	S-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
3769	MT-ND1	LHON	C3769G	C-G	L-V	+	-	Reported	0.000% (0.000%)	0 (0)	1
3781	MT-ND1	LHON	T3781C	T-C	S-P	+	-	Reported	0.000% (0.000%)	0 (0)	1
3796	MT-ND1	Adult-Onset Dystonia	A3796G	A-G	T-A	-	+	Reported	0.477%  (0.000%)	247 (0)	4
3833	MT-ND1	PEG	T3833A	T-A	L-Q	+	-	Reported	0.000% (0.000%)	0 (0)	2
3866	MT-ND1	LHON + limb claudication	T3866C	T-C	I-T	nr	nr	Reported / synergistic?	0.280% (0.000%)	145 (0)	8
3890	MT-ND1	Progressive Encephalomyopathy / Leigh Syndrome / Optic Atrophy	G3890A	G-A	R-Q	-	+	Cfrm	0.002% (0.000%)	1 (0)	7
3902	MT-ND1	EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria	3902_3908inv	ACCTTGC-GCAAGGT	DLA-GKV	-	+	Cfrm	0.000% (0.000%)	0 (0)	3
3919	MT-ND1	LHON	T3919C	T-C	S-P	+	-	Reported	0.000% (0.000%)	0 (0)	1
3945	MT-ND1	Leigh-like phenotype	C3945A	C-A	I-M	nr	nr	Reported	0.000% (0.000%)	0 (0)	1
3946	MT-ND1	MELAS	G3946A	G-A	E-K	+	+	Reported	0.002% (0.000%)	1 (0)	8
3949	MT-ND1	MELAS	T3949C	T-C	Y-H	-	+	Reported	0.002% (0.000%)	1 (0)	7
3958	MT-ND1	LHON	G3958A	G-A	G-S	+	-	Reported	0.000% (0.000%)	0 (0)	1
3959	MT-ND1	MELAS	G3959A	G-A	G-D	nr	nr	Reported	0.000% (0.000%)	0 (0)	1
3995	MT-ND1	MELAS	A3995G	A-G	N-S	nr	nr	Reported	0.035% (0.000%)	18 (0)	4
4081	MT-ND1	LHON	T4081C	T-C	F-L	+	-	Reported	0.000% (0.000%)	0 (0)	1
4123	MT-ND1	LHON	A4123T	A-T	I-F	+	-	Reported	0.000% (0.000%)	0 (0)	1
4132	MT-ND1	NAION-associated	G4132A	G-A	A-T	+	-	Reported	0.014% (0.000%)	7 (0)	2
4136	MT-ND1	LHON	A4136G	A-G	Y-C	+	-	Possibly synergistic	0.127% (0.000%)	66 (0)	11
4142	MT-ND1	Developmental delay, seizure, hypotonia	G4142A	G-A	R-Q	-	+	Reported	0.000% (0.000%)	0 (0)	2
4142	MT-ND1	Leigh Syndrome	G4142T	G-T	R-L	-	+	Reported	0.000% (0.000%)	0 (0)	1
4160	MT-ND1	LHON / LHON plus	T4160C	T-C	L-P	+	-	Reported	0.002% (0.000%)	1 (0)	12
4163	MT-ND1	LHON	T4163C	T-C	M-T	+	-	Reported	0.000% (0.000%)	0 (0)	1
4171	MT-ND1	LHON / Leigh-like phenotype	C4171A	C-A	L-M	+	+	Cfrm	0.004% (0.000%)	2 (0)	11
4215	MT-ND1	Low VO2max response	A4215G	A-G	W-W	+	-	Reported	0.010% (0.000%)	5 (0)	1
4216	MT-ND1	LHON / Insulin Resistance /possible adaptive high altitude variant / miscarriage	T4216C	T-C	Y-H	+	-	Conflicting reports	9.949%  (0.000%)	5157 (0)	46
4491	MT-ND2	High altitude pulmonary edema susceptibility	G4491A	G-A	V-I	+	-	Reported	1.725%  (0.000%)	894 (0)	1
4633	MT-ND2	LHON candidate	C4633G	C-G	A-G	+	-	Reported	0.000% (0.000%)	0 (0)	1
4640	MT-ND2	LHON / Epilepsy	C4640A	C-A	I-M	+	-	Reported	0.361%  (0.000%)	187 (0)	8
4648	MT-ND2	PEG	T4648C	T-C	F-S	+	-	Reported	0.002% (0.000%)	1 (0)	2
4659	MT-ND2	possible PD risk factor / LHON	G4659A	G-A	A-T	+	-	Reported	0.162% (0.000%)	84 (0)	3
4681	MT-ND2	Leigh Syndrome	T4681C	T-C	L-P	-	+	Reported	0.002% (0.000%)	1 (0)	4
4769	MT-ND2	SZ-associated	A4769A	A-A	M-M	+	-	Reported	2.392% (0.000%)	1240 (0)	2
4833	MT-ND2	Diabetes helper mutation AD, PD	A4833G	A-G	T-A	+	-	Reported	1.001%  (0.000%)	519 (0)	3
4852	MT-ND2	LHON	T4852A	T-A	L-Q	+	-	Reported	0.000% (0.000%)	0 (0)	1
4883	MT-ND2	Glaucoma	C4883T	C-T	P-P	+	-	Conflicting reports	4.591%  (0.000%)	2380 (0)	2
4917	MT-ND2	LHON / Insulin Resistance / AMD / NRTI-PN	A4917G	A-G	N-D	+	-	Reported	4.748%  (0.000%)	2461 (0)	28
4935	MT-ND2	Lipomatosis+EXIT	A4935G	A-G	T-A	-	+	Reported as VUS	0.000% (0.000%)	0 (0)	3
4944	MT-ND2	High altitude pulmonary edema susceptibility	A4944G	A-G	I-V	+	-	Reported	0.015% (0.000%)	8 (0)	1
5001	MT-ND2	Developmental delay, seizure, cardiomyopathy, lactic acidosis	A5001AA	A-AA	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	2
5095	MT-ND2	Proximal muscle weakness and atrophy	T5095C	T-C	I-T	nr	nr	Reported	0.035% (0.000%)	18 (0)	1
5133	MT-ND2	Exercise intolerance (EXIT)	5133_5134delAA	AA-del	frameshift	nr	nr	Reported	0.000% (0.000%)	0 (0)	5
5153	MT-ND2	Recurrent pregnancy loss	A5153G	A-G	L-L	nr	nr	Reported	0.658%  (0.000%)	341 (0)	1
5178	MT-ND2	Longevity / Extraversion / diabetes / AMS protection / blood iron metabolism / correlation with myocardial infarction / atherosclerosis	C5178A	C-A	L-M	+	+	Reported	4.547%  (0.000%)	2357 (0)	23
5244	MT-ND2	LHON	G5244A	G-A	G-S	-	+	Reported	0.000% (0.000%)	0 (0)	7
5452	MT-ND2	Progressive Encephalomyopathy	C5452T	C-T	T-M	+	-	Reported	0.031% (0.000%)	16 (0)	2
5460	MT-ND2	AD / PD / LHON	G5460A	G-A	A-T	+	+	Conflicting reports	6.904%  (0.000%)	3579 (0)	10
5460	MT-ND2	AD	G5460T	G-T	A-S	+	+	Reported	0.000% (0.000%)	0 (0)	5
5911	MT-CO1	Prostate Cancer	C5911T	C-T	A-V	+	-	Reported	0.477%  (0.000%)	247 (0)	1
5913	MT-CO1	Prostate Cancer / hypertension	G5913A	G-A	D-N	+	-	Reported	0.968%  (0.000%)	502 (0)	3
5920	MT-CO1	Myoglobinuria / EXIT	G5920A	G-A	W-Term	-	+	Reported	0.000% (0.000%)	0 (0)	4
5935	MT-CO1	Prostate Cancer	A5935G	A-G	N-S	+	-	Reported	0.002% (0.000%)	1 (0)	1
5973	MT-CO1	Prostate Cancer	G5973A	G-A	A-T	+	-	Reported	0.027% (0.000%)	14 (0)	1
6020	MT-CO1	Motor Neuron Disease	6020_6024delCGAGC	CGAGC-del	AELGQ-AGPATerm	-	+	Reported	0.000% (0.000%)	0 (0)	1
6081	MT-CO1	Prostate Cancer	G6081A	G-A	A-T	+	-	Reported	0.002% (0.000%)	1 (0)	1
6150	MT-CO1	Prostate Cancer / enriched in POAG cohort	G6150A	G-A	V-I	+	-	Reported	0.442% (0.000%)	229 (0)	2
6253	MT-CO1	Prostate Cancer / enriched in POAG cohort	T6253C	T-C	M-T	+	-	Reported	1.044%  (0.000%)	541 (0)	3
6261	MT-CO1	Prostate Cancer / LHON	G6261A	G-A	A-T	+	-	Reported	0.729%  (0.000%)	378 (0)	4
6267	MT-CO1	Prostate Cancer	G6267A	G-A	A-T	+	-	Reported	0.164% (0.000%)	85 (0)	1
6285	MT-CO1	Prostate Cancer	G6285A	G-A	V-I	+	-	Reported	0.235%  (0.000%)	122 (0)	1
6307	MT-CO1	Asthenozoospermic infertility	A6307G	A-G	N-S	.	+	Reported	0.004% (0.000%)	2 (0)	1
6328	MT-CO1	EXIT (Exercise Intolerance)	C6328T	C-T	S-F	+	-	Reported	0.000% (0.000%)	0 (0)	2
6340	MT-CO1	Prostate Cancer	C6340T	C-T	T-I	+	-	Reported	0.176% (0.000%)	91 (0)	2
6459	MT-CO1	Sepsis susceptibility	T6459C	T-C	W-R	+	-	Reported	0.000% (0.000%)	0 (0)	2
6474	MT-CO1	Maternally inherited childhood epilepsy and ataxia	A6474G	A-G	T-A	+	-	Reported as VUS	0.000% (0.000%)	0 (0)	1
6480	MT-CO1	Prostate Cancer / enriched in POAG cohort	G6480A	G-A	V-I	+	-	Reported	0.284%  (0.000%)	147 (0)	4
6489	MT-CO1	CO1 deficiency with epilepsia partialis continua	C6489A	C-A	L-I	-	+	Reported	0.166% (0.000%)	86 (0)	3
6547	MT-CO1	Leigh Syndrome	T6547C	T-C	L-P	-	+	Reported	0.006% (0.000%)	3 (0)	3
6579	MT-CO1	Leigh Syndrome	G6579A	G-A	G-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
6597	MT-CO1	MELAS-like syndrome	C6597A	C-A	Q-K	-	+	Reported	0.000% (0.000%)	0 (0)	1
6663	MT-CO1	Prostate Cancer	A6663G	A-G	I-V	+	-	Reported	0.284% (0.000%)	147 (0)	3
6698	MT-CO1	Myopathy	A6698del	A-del	K-K_frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
6708	MT-CO1	MM & Rhabdomyolysis	G6708A	G-A	G-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
6721	MT-CO1	Acquired Idiopathic Sideroblastic Anemia	T6721C	T-C	M-T	-	+	Reported	0.000% (0.000%)	0 (0)	2
6742	MT-CO1	Acquired Idiopathic Sideroblastic Anemia	T6742C	T-C	I-T	-	+	Reported	0.000% (0.000%)	0 (0)	2
6860	MT-CO1	Dilated Cardiomyopathy	A6860C	A-C	K-N	+	-	Reported	0.000% (0.000%)	0 (0)	1
6930	MT-CO1	Multisystem Disorder	G6930A	G-A	G-Term	-	+	Reported	0.000% (0.000%)	0 (0)	3
6955	MT-CO1	Mild EXIT and MR	G6955A	G-A	G-D	+	+	Reported	0.002% (0.000%)	1 (0)	1
6962	MT-CO1	Possible helper variant for 15927A	G6962A	G-A	L-L	+	-	Reported	2.512%  (0.000%)	1302 (0)	1
7023	MT-CO1	MELAS-like syndrome	G7023A	G-A	V-M	-	+	Reported	0.002% (0.000%)	1 (0)	1
7041	MT-CO1	Prostate Cancer	G7041A	G-A	V-I	+	-	Reported	0.012% (0.000%)	6 (0)	1
7080	MT-CO1	Prostate Cancer	T7080C	T-C	F-L	+	-	Reported	0.112% (0.000%)	58 (0)	1
7083	MT-CO1	Prostate Cancer	A7083G	A-G	I-V	+	-	Reported	0.029% (0.000%)	15 (0)	1
7158	MT-CO1	Prostate Cancer	A7158G	A-G	I-V	+	-	Reported	0.068% (0.000%)	35 (0)	1
7305	MT-CO1	Prostate Cancer	A7305C	A-C	M-L	+	-	Reported	0.000% (0.000%)	0 (0)	1
7402	MT-CO1	Isolated complex IV deficiency	C7402del	C-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
7443	MT-CO1	DEAF	A7443G	A-G	Ter-G	+	-	Reported	0.002% (0.000%)	1 (0)	4
7444	MT-CO1	LHON / SNHL / DEAF	G7444A	G-A	Term-K	+	-	Reported	0.370%  (0.000%)	192 (0)	26
7445	MT-CO1	DEAF	A7445C	A-C	Ter-S	+	-	Reported	0.025% (0.000%)	13 (0)	7
7445	MT-CO1	SNHL	A7445G	A-G	Term-Term	+	+	Cfrm	0.002% (0.000%)	1 (0)	33
7587	MT-CO2	Mitochondrial Encephalomyopathy	T7587C	T-C	M-T	-	+	Reported	0.000% (0.000%)	0 (0)	2
7598	MT-CO2	Possible LHON helper variant	G7598A	G-A	A-T	-	+	Reported	1.188%  (0.000%)	616 (0)	2
7623	MT-CO2	LHON	C7623T	C-T	T-I	+	-	Reported	0.000% (0.000%)	0 (0)	1
7630	MT-CO2	MELAS	T7630del	T-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
7637	MT-CO2	PD risk factor	G7637A	G-A	E-K	-	+	Reported	0.004% (0.000%)	2 (0)	1
7671	MT-CO2	MM	T7671A	T-A	M-K	-	+	Reported	0.000% (0.000%)	0 (0)	2
7695	MT-CO2	Cerebellar and pyramidal syndrome with cognitive impairment	T7695C	T-C	L-P	-	+	Reported as VUS	0.000% (0.000%)	0 (0)	1
7697	MT-CO2	Possible HCM susceptibility, high altitude adaptation	G7697A	G-A	V-I	+	-	Reported	0.480%  (0.000%)	249 (0)	5
7706	MT-CO2	Alpers-Huttenlocher-like	G7706A	G-A	A-T	+	+	Reported	0.015% (0.000%)	8 (0)	1
7859	MT-CO2	Progressive Encephalomyopathy	G7859A	G-A	D-N	+	-	Reported	0.287%  (0.000%)	149 (0)	1
7868	MT-CO2	LHON	C7868T	C-T	L-F	+	-	Possibly synergistic	0.035% (0.000%)	18 (0)	1
7877	MT-CO2	PEG glaucoma	A7877C	A-C	K-Q	+	-	Reported	0.000% (0.000%)	0 (0)	1
7896	MT-CO2	Multisystem Disorder	G7896A	G-A	W-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
7965	MT-CO2	Hepatic failure / COX deficiency	T7965C	T-C	F-S	.	+	Reported	0.002% (0.000%)	1 (0)	3
7970	MT-CO2	Encephalopathy	G7970T	G-T	E-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
7989	MT-CO2	Rhabdomyolysis	T7989C	T-C	L-P	-	+	Reported	0.000% (0.000%)	0 (0)	2
8010	MT-CO2	Developmental delay, ataxia, seizure, hypotonia, lactic acidosis	T8010C	T-C	V-A	-	+	Reported	0.004% (0.000%)	2 (0)	1
8021	MT-CO2	Asthenozoospermia	A8021G	A-G	I-V	+	-	Reported	0.015% (0.000%)	8 (0)	1
8042	MT-CO2	Lactic Acidosis	8042_8403delAT	AT-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
8078	MT-CO2	DEAF	G8078A	G-A	V-I	+	-	Reported	0.046% (0.000%)	24 (0)	2
8088	MT-CO2	Mitochondrial myopathy with complex IV deficiency	T8088del	T-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
8108	MT-CO2	SNHL	A8108G	A-G	I-V	+	-	Reported	0.137% (0.000%)	71 (0)	1
8119	MT-CO2	Biliary atresia	T8119del	T-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
8156	MT-CO2	Multi-system mitochondrial disorder	G8156del	G-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
8241	MT-CO2	MIDD+retinopathy	T8241G	T-G	F-C	-	+	Conflicting reports	0.000% (0.000%)	0 (0)	2
8249	MT-CO2	Mitochondrial myopathy	G8249A	G-A	G-Term	+	-	Reported	0.002% (0.000%)	1 (0)	2
8381	MT-ATP8	MIDD / LVNC cardiomyopathy-assoc.	A8381G	A-G	T-A	+	-	Reported	0.025% (0.000%)	13 (0)	2
8393	MT-ATP8	Reversible brain pseudoatrophy	C8393T	C-T	P-S	-	+	Reported	0.347%  (0.000%)	180 (0)	2
8403	MT-ATP8	Episodic weakness and progressive neuropathy	T8403C	T-C	I-T	+	-	Reported	0.006% (0.000%)	3 (0)	1
8411	MT-ATP8	Severe mitochondrial disorder	A8411G	A-G	M-V	+	-	Reported	0.004% (0.000%)	2 (0)	1
8412	MT-ATP8	Possible LHON helper mutation	T8412C	T-C	M-T	+	-	Reported	0.037% (0.000%)	19 (0)	1
8414	MT-ATP8	Increased risk of T2DM and high altitude polycythemia (HAPC) in haplogroup D4 / Longevity	C8414T	C-T	L-F	+	-	Reported	3.768%  (0.000%)	1953 (0)	3
8481	MT-ATP8	Tetralogy of Fallot patient	C8481T	C-T	P-L	+	-	Reported	0.015% (0.000%)	8 (0)	1
8490	MT-ATP8	Peripheral neuropathy of T2DM	T8490C	T-C	M-T	+	-	Reported	0.048% (0.000%)	25 (0)	4
8519	MT-ATP8	Susceptibility to bullous pemphigoid	G8519A	G-A	E-K	+	-	Reported	0.224%  (0.000%)	116 (0)	1
8527	MT-ATP8/6	Neuromuscular disorder, possible helper mutation	A8527G	A-G	ATP8:K-K ATP6:M-V	+	-	Reported	0.399%  (0.000%)	207 (0)	1
8528	MT-ATP8/6	Infantile cardiomyopathy	T8528C	T-C	ATP8:W-R ATP6:M-T	+	+	Cfrm	0.000% (0.000%)	0 (0)	4
8529	MT-ATP8/6	Apical HCM	G8529A	G-A	ATP8:W-Term ATP6:M-M	+	-	Reported	0.000% (0.000%)	0 (0)	2
8551	MT-ATP8/6	Possible LHON helper mutation	T8551C	T-C	ATP8:H-H ATP6:F-L	+	-	Reported	0.033% (0.000%)	17 (0)	1
8558	MT-ATP8/6	Possibly LVNC cardiomyopathy-associated	C8558T	C-T	ATP8:P-S ATP6:A-V	+	-	Reported	0.025% (0.000%)	13 (0)	1
8561	MT-ATP8/6	Ataxia w neuropathy, DM, SNHL, and hypogonadism	C8561G	C-G	ATP8:P-A ATP6:P-R	+	+	Reported	0.000% (0.000%)	0 (0)	1
8561	MT-ATP8/6	Ataxia w psychomotor delay	C8561T	C-T	ATP8:P-S ATP6:P-L	-	+	Reported	0.000% (0.000%)	0 (0)	1
8573	MT-ATP6	Patient with suspected mitochondrial disease	G8573A	G-A	G-D	+	-	Reported as Benign	0.106% (0.000%)	55 (0)	1
8597	MT-ATP6	Leigh Syndrome	T8597C	T-C	I-T	-	+	Reported	0.033% (0.000%)	17 (0)	2
8608	MT-ATP6	Patient with suspected mitochondrial disease	C8608T	C-T	P-S	+	-	Reported as VUS	0.000% (0.000%)	0 (0)	1
8611	MT-ATP6	Ataxia, microcephaly, developmental delay, intellectual disability	C8611CC	C-CC	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	2
8612	MT-ATP6	Patient with suspected mitochondrial disease	T8612C	T-C	L-P	+	-	Reported as VUS	0.000% (0.000%)	0 (0)	1
8618	MT-ATP6	NARP/cognitive decline+abnormal brain MRI+impaired kidney function	T8618TT	T-TT	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	3
8668	MT-ATP6	LHON	T8668C	T-C	W-R	+	-	Reported	0.064% (0.000%)	33 (0)	1
8691	MT-ATP6	Infantile mito disease w subclinical hypothyroidism	A8691G	A-G	K-K	nr	nr	Reported	0.012% (0.000%)	6 (0)	2
8719	MT-ATP6	Suspected mito disease	G8719A	G-A	G-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
8723	MT-ATP6	Patient with suspected mitochondrial disease	G8723T	G-T	R-L	99%	-	Reported as VUS	0.000% (0.000%)	0 (0)	1
8741	MT-ATP6	MILS protective factor	T8741G	T-G	L-R	-	+	Reported	0.000% (0.000%)	0 (0)	1
8782	MT-ATP6	Cerebellar ataxia+diabetes+kidney disease / ataxia+myoclonic epilepsy	G8782A	G-A	G-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
8794	MT-ATP6	Exercise Endurance / Coronary Atherosclerosis risk	C8794T	C-T	H-Y	+	-	Reported	2.653%  (0.000%)	1375 (0)	2
8795	MT-ATP6	MILS protective factor	A8795G	A-G	H-R	-	+	Reported	0.000% (0.000%)	0 (0)	1
8821	MT-ATP6	Possible LHON helper variant	T8821G	T-G	S-A	nr	nr	Reported	0.000% (0.000%)	0 (0)	1
8836	MT-ATP6	LHON	A8836G	A-G	M-V	+	-	Reported	0.305%  (0.000%)	158 (0)	2
8839	MT-ATP6	NARP syndrome	G8839C	G-C	A-P	-	+	Reported	0.000% (0.000%)	0 (0)	2
8843	MT-ATP6	Patient with suspected mitochondrial disease	T8843C	T-C	I-T	+	-	Reported as Likely Benign	0.334%  (0.000%)	173 (0)	1
8851	MT-ATP6	BSN / Leigh syndrome	T8851C	T-C	W-R	+	+	Cfrm	0.006% (0.000%)	3 (0)	9
8881	MT-ATP6	Patient with suspected mitochondrial disease	T8881C	T-C	S-P	nr	nr	Reported as VUS	0.002% (0.000%)	1 (0)	1
8890	MT-ATP6	Juvenile-onset metabolic syndrome	A8890G	A-G	K-E	-	+	Reported	0.000% (0.000%)	0 (0)	1
8921	MT-ATP6	Patient with suspected mitochondrial disease	G8921A	G-A	G-D	+	-	Reported as VUS	0.014% (0.000%)	7 (0)	1
8932	MT-ATP6	Prostate tumor / Neuromuscular disorder	C8932T	C-T	P-S	+	-	Reported	0.399%  (0.000%)	207 (0)	3
8936	MT-ATP6	Atypical Leigh syndrome	T8936A	T-A	L-H	-	+	Reported	0.000% (0.000%)	0 (0)	1
8938	MT-ATP6	Patient with suspected mitochondrial disease	A8938G	A-G	I-V	+	-	Reported as VUS	0.087% (0.000%)	45 (0)	1
8950	MT-ATP6	LDYT	G8950A	G-A	V-I	+	-	Reported	0.150% (0.000%)	78 (0)	3
8959	MT-ATP6	Developmental delay, intellectual disability, low citrilline	G8959A	G-A	E-K	+	+	Reported	0.008% (0.000%)	4 (0)	2
8969	MT-ATP6	Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy	G8969A	G-A	S-N	-	+	Cfrm	0.000% (0.000%)	0 (0)	6
8989	MT-ATP6	NARP syndrome	G8989C	G-C	A-P	-	+	Reported	0.000% (0.000%)	0 (0)	2
8993	MT-ATP6	NARP / Leigh Disease / MILS / other	T8993C	T-C	L-P	-	+	Cfrm	0.004% (0.000%)	2 (0)	45
8993	MT-ATP6	NARP / Leigh Disease / MILS / other	T8993G	T-G	L-R	+	+	Cfrm	0.012% (0.000%)	6 (0)	152
8999	MT-ATP6	Patient with suspected mitochondrial disease	T8999C	T-C	V-A	+	-	Reported as VUS	0.014% (0.000%)	7 (0)	1
9010	MT-ATP6	Unspecified neurological disorder	G9010A	G-A	A-T	-	+	Reported	0.052% (0.000%)	27 (0)	1
9016	MT-ATP6	LHON	A9016G	A-G	I-V	-	+	Reported	0.025% (0.000%)	13 (0)	2
9017	MT-ATP6	Unspecified neurological disorder	T9017C	T-C	I-T	-	+	Reported	0.025% (0.000%)	13 (0)	1
9025	MT-ATP6	Motor neuropathy, Leigh-like, colon cancer	G9025A	G-A	G-S	+	-	Reported	0.064% (0.000%)	33 (0)	2
9026	MT-ATP6	Patient with suspected mitochondrial disease	G9026A	G-A	G-D	-	+	Reported as Likely Pathogenic	0.006% (0.000%)	3 (0)	3
9029	MT-ATP6	LHON-like	A9029G	A-G	H-R	+	+	Reported	0.002% (0.000%)	1 (0)	2
9032	MT-ATP6	NARP	T9032C	T-C	L-P	-	+	Reported	0.000% (0.000%)	0 (0)	2
9035	MT-ATP6	Ataxia syndromes	T9035C	T-C	L-P	+	+	Cfrm	0.000% (0.000%)	0 (0)	5
9041	MT-ATP6	Patient with suspected mitochondrial disease	A9041G	A-G	H-R	-	+	Reported as VUS	0.093% (0.000%)	48 (0)	1
9055	MT-ATP6	PD protective factor	G9055A	G-A	A-T	+	-	Reported	4.240%  (0.000%)	2198 (0)	2
9058	MT-ATP6	Patients with (1) LVNC cardiomyopathy; (2) autism, intellectual disability, epilepsy	A9058G	A-G	T-A	+	-	Reported as (1) possible association or as (2) benign	0.054% (0.000%)	28 (0)	1
9071	MT-ATP6	Potentially functional variant cosegregating with LHON3635A	C9071T	C-T	S-L	+	-	Reported	0.027% (0.000%)	14 (0)	1
9088	MT-ATP6	Patient with suspected mitochondrial disease	T9088C	T-C	S-P	-	+	Reported as Likely Benign	0.042% (0.000%)	22 (0)	1
9098	MT-ATP6	Predisposition to anti-retroviral mito disease	T9098C	T-C	I-T	+	-	Reported	0.102% (0.000%)	53 (0)	1
9101	MT-ATP6	LHON	T9101C	T-C	I-T	+	-	Reported	0.085% (0.000%)	44 (0)	7
9115	MT-ATP6	Patient with suspected mitochondrial disease	A9115G	A-G	I-V	+	-	Reported as VUS	0.044% (0.000%)	23 (0)	1
9127	MT-ATP6	NARP	9127_9128delAT	AT-del	IL-Pterm	-	+	Reported	0.000% (0.000%)	0 (0)	1
9133	MT-ATP6	Patient with suspected mitochondrial disease	G9133A	G-A	E-K	+	-	Reported as VUS	0.008% (0.000%)	4 (0)	1
9134	MT-ATP6	Hypotonia, lactic acidosis, HCM, IUGR	A9134G	A-G	E-G	nr	nr	Reported	0.000% (0.000%)	0 (0)	2
9139	MT-ATP6	LHON	G9139A	G-A	A-T	+	-	Reported - possibly synergistic	0.077% (0.000%)	40 (0)	1
9152	MT-ATP6	Patient with suspected mitochondrial disease	T9152C	T-C	I-T	-	+	Reported as VUS	0.029% (0.000%)	15 (0)	1
9155	MT-ATP6	MIDD, renal insufficiency	A9155G	A-G	Q-R	-	+	Cfrm	0.000% (0.000%)	0 (0)	3
9155	MT-ATP6	Developmental delay, intellectual disability, low citrilline	A9155T	A-T	Q-L	+	+	Reported	0.000% (0.000%)	0 (0)	1
9166	MT-ATP6	EXIT+more / bilateral optic neuropathy	T9166C	T-C	F-L	+	+	Reported	0.000% (0.000%)	0 (0)	2
9176	MT-ATP6	FBSN / Leigh Disease	T9176C	T-C	L-P	+	+	Cfrm	0.006% (0.000%)	3 (0)	31
9176	MT-ATP6	Leigh Disease / Spastic Paraplegia	T9176G	T-G	L-R	+	+	Cfrm	0.002% (0.000%)	1 (0)	11
9185	MT-ATP6	Leigh Disease / Ataxia syndromes / NARP-like disease	T9185C	T-C	L-P	+	+	Cfrm	0.006% (0.000%)	3 (0)	24
9191	MT-ATP6	Leigh Disease	T9191C	T-C	L-P	-	+	Reported	0.000% (0.000%)	0 (0)	5
9205	MT-ATP6	Encephalopathy / Seizures / Lacticacidemia	9205_9206delTA	TA-del	Ter-M	+	-	Cfrm	0.000% (0.000%)	0 (0)	9
9267	MT-CO3	MIDD	G9267C	G-C	A-P	-	+	Reported	0.000% (0.000%)	0 (0)	1
9331	MT-CO3	Failure to thrive with metabolic acidosis, cognitive impairment, optic atrophy	T9331C	T-C	L-P	+	-	Reported as VUS	0.000% (0.000%)	0 (0)	1
9379	MT-CO3	MM w lactic acidosis	G9379A	G-A	W-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
9387	MT-CO3	Asthenozoospermia	G9387A	G-A	V-M	-	+	Reported	0.000% (0.000%)	0 (0)	1
9438	MT-CO3	LHON / gout	G9438A	G-A	G-S	+	-	Conflicting reports	1.080%  (0.000%)	560 (0)	14
9444	MT-CO3	Possible LHON helper mutation	C9444T	C-T	R-W	+	-	Reported	0.002% (0.000%)	1 (0)	1
9478	MT-CO3	Leigh Disease	T9478C	T-C	V-A	-	+	Reported	0.037% (0.000%)	19 (0)	2
9480	MT-CO3	Myoglobinuria	9480_9494del15	TTTTTCTTCGCAGGA-del	FFFAG-del	-	+	Reported	0.000% (0.000%)	0 (0)	5
9487	MT-CO3	Myoglobinuria	9487_9501del15	TCGCAGGATTTTTCT-del	FFAGFF-del	-	+	Reported (alt loc)	0.000% (0.000%)	0 (0)	1
9490	MT-CO3	Gout	C9490T	C-T	A-V	+	-	Reported	0.039% (0.000%)	20 (0)	1
9537	MT-CO3	Leigh Disease	C9537CC	C-CC	frameshift	+	-	Reported	0.000% (0.000%)	0 (0)	2
9544	MT-CO3	Sporadic bilateral optic neuropathy	G9544A	G-A	G-E	nr	nr	Reported	0.000% (0.000%)	0 (0)	1
9559	MT-CO3	Rhabdomyolysis	C9559del	C-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
9660	MT-CO3	LHON	A9660C	A-C	M-L	+	-	Reported	0.000% (0.000%)	0 (0)	1
9738	MT-CO3	LHON	G9738T	G-T	A-S	+	-	Reported	0.000% (0.000%)	0 (0)	1
9789	MT-CO3	Myopathy	T9789C	T-C	S-P	-	+	Reported	0.000% (0.000%)	0 (0)	1
9804	MT-CO3	LHON / MS	G9804A	G-A	A-T	+	+	Reported	0.289%  (0.000%)	150 (0)	12
9856	MT-CO3	LVNC cardiomyopathy / gout	T9856C	T-C	I-T	+	-	Reported	0.031% (0.000%)	16 (0)	2
9861	MT-CO3	AD	T9861C	T-C	F-L	+	-	Reported	0.220% (0.000%)	114 (0)	1
9921	MT-CO3	Possible LHON helper mutation	G9921A	G-A	A-T	+	-	Reported	0.108% (0.000%)	56 (0)	1
9952	MT-CO3	Mitochondrial Encephalopathy	G9952A	G-A	W-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
9957	MT-CO3	PEM / MELAS / NAION / HCM / gout	T9957C	T-C	F-L	-	+	Reported	0.081% (0.000%)	42 (0)	8
9966	MT-CO3	LHON possible helper variant	G9966A	G-A	V-I	nr	nr	Reported	0.687%  (0.000%)	356 (0)	1
9972	MT-CO3	EXIT & APS2 - possible link	A9972C	A-C	I-L	-	+	Reported	0.002% (0.000%)	1 (0)	1
10086	MT-ND3	Hypertensive end-stage renal disease	A10086G	A-G	N-D	+	-	Reported	0.803%  (0.000%)	416 (0)	4
10134	MT-ND3	Leigh Disease	C10134A	C-A	Q-K	-	+	Reported	0.000% (0.000%)	0 (0)	1
10142	MT-ND3	Recurrent pregnancy loss	C10142T	C-T	N-N	nr	nr	Reported	1.302%  (0.000%)	675 (0)	1
10158	MT-ND3	Leigh Disease / MELAS	T10158C	T-C	S-P	+	+	Cfrm	0.000% (0.000%)	0 (0)	29
10189	MT-ND3	Behavior alteration with dilated cardiomyopathy	T10189C	T-C	M-T	-	+	Reported as VUS	0.002% (0.000%)	1 (0)	1
10191	MT-ND3	Leigh Disease / Leigh-like Disease / ESOC	T10191C	T-C	S-P	-	+	Cfrm	0.000% (0.000%)	0 (0)	26
10197	MT-ND3	Leigh Disease / Dystonia / Stroke / LDYT	G10197A	G-A	A-T	+	+	Cfrm	0.008% (0.000%)	4 (0)	22
10237	MT-ND3	LHON	T10237C	T-C	I-T	+	-	Reported	0.164% (0.000%)	85 (0)	3
10254	MT-ND3	Leigh Disease	G10254A	G-A	D-N	-	+	Reported	0.000% (0.000%)	0 (0)	1
10397	MT-ND3	Low VO2max response	A10397G	A-G	W-W	+	-	Reported	0.814%  (0.000%)	422 (0)	1
10398	MT-ND3	Invasive Breast Cancer risk factor AD PD BD lithium response Type 2 DM	A10398A	A-A	T-T	+	-	Reported; lineage N marker except hg IJK	56.013% (0.000%)	29035 (0)	20
10398	MT-ND3	PD protective factor / longevity / altered cell pH / metabolic syndrome / breast cancer risk / Leigh Syndrome risk / ADHD / cognitive decline / SCA2 age of onset / Fuchs endothelial corneal dystrophy	A10398G	A-G	T-A	+	-	Reported; lineage L & M marker, also hg IJK	43.973%  (0.000%)	22794 (0)	37
10543	MT-ND4L	LHON	A10543G	A-G	H-R	-	+	Reported	0.000% (0.000%)	0 (0)	1
10591	MT-ND4L	LHON	T10591G	T-G	F-C	-	+	Reported	0.000% (0.000%)	0 (0)	1
10652	MT-ND4L	BD / MDD-associated	T10652C	T-C	I-I	-	+	Reported	0.104% (0.000%)	54 (0)	1
10663	MT-ND4L	LHON	T10663C	T-C	V-A	+	-	Cfrm	0.004% (0.000%)	2 (0)	15
10680	MT-ND4L	LHON / synergistic combo 10680A + 12033G + 14258A	G10680A	G-A	A-T	+	-	Reported / possibly synergistic	0.033% (0.000%)	17 (0)	4
11042	MT-ND4	Biliary atresia	T11042C	T-C	Y-H	-	+	Reported	0.000% (0.000%)	0 (0)	1
11048	MT-ND4	Biliary atresia	T11048del	T-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
11084	MT-ND4	AD, PD MELAS	A11084G	A-G	T-A	+	+	Conflicting reports	0.392%  (0.000%)	203 (0)	7
11150	MT-ND4	Found in a Multiple Sclerosis patient	G11150A	G-A	A-T	+	-	Reported	0.235%  (0.000%)	122 (0)	1
11232	MT-ND4	CPEO	T11232C	T-C	L-P	-	+	Reported	0.000% (0.000%)	0 (0)	4
11240	MT-ND4	Leigh Syndrome	C11240T	C-T	L-F	-	+	Reported	0.000% (0.000%)	0 (0)	2
11250	MT-ND4	Low VO2max response	T11250C	T-C	L-P	+	-	Reported	0.000% (0.000%)	0 (0)	1
11251	MT-ND4	Reduced risk of PD	A11251G	A-G	L-L	nr	nr	Reported	9.310%  (0.000%)	4826 (0)	2
11253	MT-ND4	LHON PD	T11253C	T-C	I-T	+	-	Reported	0.502%  (0.000%)	260 (0)	7
11365	MT-ND4	found in 1 HCM patient	T11365C	T-C	A-A	+	-	Reported	0.222%  (0.000%)	115 (0)	1
11375	MT-ND4	found in 1 sCJD patient	A11375C	A-C	K-Q	+	-	Reported	0.000% (0.000%)	0 (0)	1
11467	MT-ND4	Altered brain pH / sCJD patients	A11467G	A-G	L-L	+	-	Reported	12.487%  (0.000%)	6473 (0)	3
11470	MT-ND4	MELAS	A11470C	A-C	K-N	-	+	Reported	0.000% (0.000%)	0 (0)	1
11519	MT-ND4	ND4 mutation set found in a Multiple Sclerosis patient	A11519C	A-C	T-P	+	-	Reported	0.000% (0.000%)	0 (0)	1
11523	MT-ND4	ND4 mutation set found in a Multiple Sclerosis patient	A11523C	A-C	K-T	+	-	Reported	0.000% (0.000%)	0 (0)	1
11527	MT-ND4	ND4 mutation set found in a Multiple Sclerosis patient	C11527T	C-T	H-H	+	-	Reported	0.044% (0.000%)	23 (0)	1
11621	MT-ND4	CPEO, exercise intolerance	11621_11622delTA	TA-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
11696	MT-ND4	LHON / LDYT / DEAF / hypertension helper mut.	G11696A	G-A	V-I	+	+	Reported - possibly synergistic	0.635%  (0.000%)	329 (0)	16
11777	MT-ND4	Leigh Disease	C11777A	C-A	R-S	-	+	Cfrm	0.000% (0.000%)	0 (0)	12
11778	MT-ND4	LHON / Progressive Dystonia	G11778A	G-A	R-H	+	+	Cfrm	0.357% (0.000%)	185 (0)	323
11832	MT-ND4	EXIT / oncocytoma	G11832A	G-A	W-Term	-	+	Reported	0.000% (0.000%)	0 (0)	6
11874	MT-ND4	LHON	C11874A	C-A	T-N	+	-	Reported	0.000% (0.000%)	0 (0)	2
11919	MT-ND4	Thyroid Cancer Cell Line	C11919T	C-T	S-F	+	-	Reported	0.000% (0.000%)	0 (0)	2
11984	MT-ND4	Leigh Syndrome	T11984C	T-C	Y-H	+	-	Reported	0.110% (0.000%)	57 (0)	1
11994	MT-ND4	Oligoasthenoteratozoospermia (OAT)	C11994T	C-T	T-I	+	-	Conflicting reports	0.000% (0.000%)	0 (0)	3
12015	MT-ND4	Atypical MELAS	T12015C	T-C	L-P	-	+	Reported	0.004% (0.000%)	2 (0)	2
12026	MT-ND4	DM	A12026G	A-G	I-V	+	-	Reported	0.471%  (0.000%)	244 (0)	4
12027	MT-ND4	SZ-associated	T12027C	T-C	I-T	nr	nr	Reported	0.004% (0.000%)	2 (0)	2
12033	MT-ND4	LHON synergistic combo 10680A + 12033G + 14258A	A12033G	A-G	N-S	+	-	Reported: individually neutral variants causing LHON in combination	0.041% (0.000%)	21 (0)	1
12063	MT-ND4	Recurrent pregnancy loss	C12063T	C-T	T-I	nr	nr	Reported	0.077% (0.000%)	40 (0)	1
12338	MT-ND5	DEAF1555 increased penetrance / LHON	T12338C	T-C	M-T	+	-	Conflicting reports	0.341%  (0.000%)	177 (0)	11
12361	MT-ND5	Non-alcoholic fatty liver disease	A12361G	A-G	T-A	+	-	Reported	0.617%  (0.000%)	320 (0)	2
12372	MT-ND5	Altered brain pH / sCJD patients	G12372A	G-A	L-L	+	-	Reported	13.473%  (0.000%)	6984 (0)	3
12397	MT-ND5	PD, early onset	A12397G	A-G	T-A	+	-	Reported	0.671%  (0.000%)	348 (0)	3
12414	MT-ND5	EXIT	T12414del	T-del	frameshift	nr	nr	Reported	0.000% (0.000%)	0 (0)	1
12425	MT-ND5	Mitochondrial myopathy & renal failure	A12425del	A-del	frameshift	-	+	Reported	0.006% (0.000%)	3 (0)	1
12477	MT-ND5	possible HCM susceptibility	T12477C	T-C	S-S	+	-	Reported	0.494%  (0.000%)	256 (0)	1
12622	MT-ND5	Leigh Disease	G12622A	G-A	V-I	+	+	Significance unclear	0.019% (0.000%)	10 (0)	2
12631	MT-ND5	found in 2 sCJD patients	T12631A	T-A	S-T	+	-	Reported	0.000% (0.000%)	0 (0)	2
12634	MT-ND5	Thyroid Cancer Cell Line	A12634G	A-G	I-V	+	+	Reported	0.284% (0.000%)	147 (0)	3
12662	MT-ND5	Recurrent pregnancy loss	A12662G	A-G	N-S	nr	nr	Reported	0.141% (0.000%)	73 (0)	1
12686	MT-ND5	Dilated Cardiomyopathy	T12686A	T-A	F-Y	+	-	Reported	0.000% (0.000%)	0 (0)	1
12705	MT-CO1	Possible protective factor for normal tension glaucoma	C12705T	C-T	I-I			Reported	41.116%  (0.000%)	21313 (0)	1
12706	MT-ND5	Leigh Disease	T12706C	T-C	F-L	-	+	Cfrm	0.000% (0.000%)	0 (0)	12
12770	MT-ND5	MELAS	A12770G	A-G	E-G	-	+	Reported	0.002% (0.000%)	1 (0)	5
12778	MT-ND5	Dilated Cardiomyopathy	G12778C	G-C	G-R	+	-	Reported	0.000% (0.000%)	0 (0)	1
12782	MT-ND5	LHON	T12782G	T-G	I-S	-	+	Reported	0.000% (0.000%)	0 (0)	1
12811	MT-ND5	Possible LHON factor	T12811C	T-C	Y-H	+	-	Reported	1.215%  (0.000%)	630 (0)	9
12848	MT-ND5	LHON	C12848T	C-T	A-V	-	+	Reported	0.000% (0.000%)	0 (0)	3
12955	MT-ND5	EXIT and developmental delay	A12955G	A-G	N-D	-	+	Reported	0.000% (0.000%)	0 (0)	1
13042	MT-ND5	Optic neuropathy/ retinopathy/ LD	G13042A	G-A	A-T	-	+	Cfrm	0.002% (0.000%)	1 (0)	8
13045	MT-ND5	MELAS / LHON / Leigh overlap syndrome	A13045C	A-C	M-L	-	+	Reported	0.000% (0.000%)	0 (0)	4
13046	MT-ND5	LHON/MELAS overlap syndrome	T13046C	T-C	M-T	-	+	Reported	0.000% (0.000%)	0 (0)	2
13051	MT-ND5	LHON	G13051A	G-A	G-S	+	-	Cfrm	0.000% (0.000%)	0 (0)	3
13063	MT-ND5	Adult-onset Encephalopathy / Ataxia	G13063A	G-A	V-I	-	+	Reported	0.004% (0.000%)	2 (0)	3
13084	MT-ND5	MELAS / Leigh Disease	A13084T	A-T	S-C	-	+	Reported	0.000% (0.000%)	0 (0)	4
13091	MT-ND5	MELAS+Migraine	T13091C	T-C	M-T	-	+	Reported	0.000% (0.000%)	0 (0)	1
13094	MT-ND5	Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue	T13094C	T-C	V-A	+	+	Cfrm	0.002% (0.000%)	1 (0)	9
13135	MT-ND5	possible HCM susceptibility	G13135A	G-A	A-T	+	-	Reported	0.965%  (0.000%)	500 (0)	2
13204	MT-ND5	Peripheral neuropathy of T2 diabetes	G13204A	G-A	V-I	+	-	Reported	0.079% (0.000%)	41 (0)	4
13271	MT-ND5	Exercise intolerance (EXIT)	T13271C	T-C	L-P	-	+	Reported	0.002% (0.000%)	1 (0)	2
13276	MT-ND5	MIDD+retinopathy	A13276G	A-G	M-V	+	-	Conflicting reports	3.181%  (0.000%)	1649 (0)	2
13376	MT-ND5	MELAS w medial temporal lobe atrophy	T13376C	T-C	I-T	+	-	Reported	0.002% (0.000%)	1 (0)	2
13379	MT-ND5	LHON	A13379C	A-C	H-P	+	-	Cfrm	0.000% (0.000%)	0 (0)	2
13511	MT-ND5	Leigh-like syndrome	A13511T	A-T	K-M	-	+	Reported	0.000% (0.000%)	0 (0)	3
13513	MT-ND5	Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome / negative association w Carotid Atherosclerosis	G13513A	G-A	D-N	-	+	Cfrm	0.002% (0.000%)	1 (0)	44
13514	MT-ND5	Leigh Disease / MELAS / Ca2+ downregulation	A13514G	A-G	D-G	-	+	Cfrm	0.000% (0.000%)	0 (0)	15
13528	MT-ND5	LHON-like, LHON, MELAS	A13528G	A-G	T-A	+	-	Reported	0.112% (0.000%)	58 (0)	5
13580	MT-ND5	Thyroid Cancer	C13580G	C-G	A-G	-	+	Reported	0.000% (0.000%)	0 (0)	1
13637	MT-ND5	Possible LHON factor	A13637G	A-G	Q-R	+	-	Reported	0.766% (0.000%)	397 (0)	4
13707	MT-ND5	Low VO2max response	G13707A	G-A	L-L	+	-	Reported	0.050% (0.000%)	26 (0)	1
13708	MT-ND5	LHON / Increased MS risk / higher freq in PD-ADS	G13708A	G-A	A-T	+	+	Conflicting reports	7.180%  (0.000%)	3722 (0)	50
13730	MT-ND5	LHON	G13730A	G-A	G-E	-	+	Reported	0.000% (0.000%)	0 (0)	7
13831	MT-ND5	Thyroid Cancer Cell Line	C13831A	C-A	L-M	-	+	Reported	0.006% (0.000%)	3 (0)	2
13849	MT-ND5	MELAS	A13849C	A-C	N-H	+	-	Reported - possibly secondary	0.002% (0.000%)	1 (0)	2
13967	MT-ND5	Possible LHON factor	C13967T	C-T	T-M	+	-	Reported	0.328% (0.000%)	170 (0)	4
14002	MT-ND5	High altitude pulmonary edema susceptibility	A14002G	A-G	T-A	+	-	Reported	0.241% (0.000%)	125 (0)	1
14063	MT-ND5	Potentially functional variant cosegregating with LHON3635A	T14063C	T-C	I-T	+	-	Reported	0.044% (0.000%)	23 (0)	2
14091	MT-ND5	Developmental delay, seizure, hearing loss, diabetes	A14091T	A-T	K-N	-	+	Reported	0.000% (0.000%)	0 (0)	2
14163	MT-ND6	Possible deafness factor	C14163T	C-T	A-T	+	-	Conflicting reports	0.025% (0.000%)	13 (0)	3
14179	MT-ND6	Recurrent pregnancy loss	A14179G	A-G	Y-Y	nr	nr	Reported	0.482%  (0.000%)	250 (0)	1
14258	MT-ND6	LHON synergistic combo 10680A + 12033G + 14258A also combo 14258A + 14582G	G14258A	G-A	P-L	+	-	Reported: individually neutral variants causing LHON in combination	0.052% (0.000%)	27 (0)	1
14263	MT-ND6	Recurrent pregnancy loss	C14263T	C-T	E-E	nr	nr	Reported	0.012% (0.000%)	6 (0)	1
14279	MT-ND6	LHON	G14279A	G-A	S-L	+	-	Reported	0.012% (0.000%)	6 (0)	3
14319	MT-ND6	PD, early onset	T14319C	T-C	N-D	+	-	Reported	0.141% (0.000%)	73 (0)	3
14325	MT-ND6	LHON	T14325C	T-C	N-D	+	-	Reported	0.100% (0.000%)	52 (0)	3
14340	MT-ND6	SNHL	C14340T	C-T	V-M	+	-	Reported	0.039% (0.000%)	20 (0)	2
14430	MT-ND6	Thyroid Cancer	A14430G	A-G	W-R	+	-	Reported	0.000% (0.000%)	0 (0)	1
14439	MT-ND6	Mitochondrial Respiratory Chain Disorder	G14439A	G-A	P-S	+	-	Reported	0.000% (0.000%)	0 (0)	2
14441	MT-ND6	Leigh-like phenotype	T14441C	T-C	Y-C	nr	nr	Reported	0.000% (0.000%)	0 (0)	1
14453	MT-ND6	MELAS / Leigh Disease	G14453A	G-A	A-V	-	+	Reported	0.000% (0.000%)	0 (0)	7
14459	MT-ND6	LDYT / Leigh Disease / dystonia / carotid atherosclerosis risk	G14459A	G-A	A-V	+	+	Cfrm	0.006% (0.000%)	3 (0)	39
14482	MT-ND6	LHON	C14482A	C-A	M-I	+	+	Cfrm	0.004% (0.000%)	2 (0)	13
14482	MT-ND6	LHON	C14482G	C-G	M-I	+	+	Cfrm	0.000% (0.000%)	0 (0)	6
14484	MT-ND6	LHON	T14484C	T-C	M-V	+	+	Cfrm	0.122% (0.000%)	63 (0)	178
14487	MT-ND6	Dystonia / Leigh Disease / ataxia / ptosis / epilepsy	T14487C	T-C	M-V	-	+	Cfrm	0.000% (0.000%)	0 (0)	28
14495	MT-ND6	LHON	A14495G	A-G	L-S	-	+	Cfrm	0.004% (0.000%)	2 (0)	8
14498	MT-ND6	LHON	T14498C	T-C	Y-C	+	+	Reported	0.000% (0.000%)	0 (0)	4
14502	MT-ND6	LHON	T14502C	T-C	I-V	+	-	Reported - possibly synergistic	0.361%  (0.000%)	187 (0)	7
14512	MT-ND6	EXIT w mild myopathy & hyperCKaemia	14512_14513del	TA-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
14535	MT-ND6	DMDF	C14535CC	C-CC	frameshift	nr	nr	Reported	0.000% (0.000%)	0 (0)	1
14568	MT-ND6	LHON	C14568T	C-T	G-S	+	-	Cfrm	0.012% (0.000%)	6 (0)	11
14577	MT-ND6	MIDM	T14577C	T-C	I-V	-	+	Reported	0.812%  (0.000%)	421 (0)	1
14582	MT-ND6	LHON synergistic combo 14258A + 14582G	A14582G	A-G	V-A	+	-	Reported: individually neutral variants causing LHON in combination	0.513%  (0.000%)	266 (0)	1
14596	MT-ND6	LHON	A14596T	A-T	I-M	+	-	Reported	0.000% (0.000%)	0 (0)	5
14597	MT-ND6	LHON	A14597G	A-G	I-T	-	+	Reported	0.000% (0.000%)	0 (0)	1
14600	MT-ND6	Leigh Disease w/optic atrophy	G14600A	G-A	P-L	+	+	Reported	0.000% (0.000%)	0 (0)	3
14668	MT-ND6	Depressive Disorder associated	C14668T	C-T	M-M	+	-	Reported	3.951%  (0.000%)	2048 (0)	2
14787	MT-CYB	PD / MELAS	14787_14790delTTAA	TTAA-del	frameshift	-	+	Reported	0.000% (0.000%)	0 (0)	1
14797	MT-CYB	Low VO2max response	A14797G	A-G	S-S	+	-	Reported	0.014% (0.000%)	7 (0)	1
14831	MT-CYB	LHON	G14831A	G-A	A-T	+	-	Reported	0.203%  (0.000%)	105 (0)	2
14841	MT-CYB	LHON helper mut.	A14841G	A-G	N-S	-	+	Reported	0.041% (0.000%)	21 (0)	1
14846	MT-CYB	EXIT / possibly antiatherogenic, poss. myocardial infarction association	G14846A	G-A	G-S	-	+	Reported	0.000% (0.000%)	0 (0)	9
14849	MT-CYB	EXIT / Septo-Optic Dysplasia	T14849C	T-C	S-P	-	+	Cfrm	0.000% (0.000%)	0 (0)	3
14864	MT-CYB	MELAS	T14864C	T-C	C-R	-	+	Reported	0.004% (0.000%)	2 (0)	1
14894	MT-CYB	LHON	T14894C	T-C	F-L	nr	nr	Reported	0.015% (0.000%)	8 (0)	1
15024	MT-CYB	Possible DEAF modifier	G15024A	G-A	C-Y	+	-	Reported	0.062% (0.000%)	32 (0)	1
15043	MT-CYB	MDD-associated	G15043A	G-A	G-G	+	-	Reported	23.640%  (0.000%)	12254 (0)	3
15059	MT-CYB	MM / carotid atherosclerosis risk / essential hypertension	G15059A	G-A	G-Term	-	+	Reported	0.000% (0.000%)	0 (0)	7
15077	MT-CYB	DEAF / LHON	G15077A	G-A	E-K	+	-	Reported	0.228%  (0.000%)	118 (0)	3
15084	MT-CYB	EXIT	G15084A	G-A	W-Term	-	+	Reported	0.000% (0.000%)	0 (0)	2
15092	MT-CYB	MELAS	G15092A	G-A	G-S	-	+	Reported	0.000% (0.000%)	0 (0)	1
15150	MT-CYB	EXIT	G15150A	G-A	W-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
15153	MT-CYB	Suspected mito disease	G15153A	G-A	G-D	-	+	Reported	0.012% (0.000%)	6 (0)	1
15158	MT-CYB	Suspected mito disease	A15158G	A-G	M-V	-	+	Reported	0.000% (0.000%)	0 (0)	1
15168	MT-CYB	EXIT	G15168A	G-A	W-Term	-	+	Reported	0.000% (0.000%)	0 (0)	2
15170	MT-CYB	EXIT	G15170A	G-A	G-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
15197	MT-CYB	EXIT	T15197C	T-C	S-P	-	+	Reported	0.000% (0.000%)	0 (0)	2
15209	MT-CYB	Prader-Willi syndrome	T15209C	T-C	Y-H	+	-	Reported	0.010% (0.000%)	5 (0)	1
15234	MT-CYB	Leigh stroke-like leukodystrophy	G15234A	G-A	W-Term	nr	nr	Reported	0.000% (0.000%)	0 (0)	1
15237	MT-CYB	Potentially functional variant cosegregating with LHON3635A	T15237C	T-C	I-T	+	-	Reported	0.012% (0.000%)	6 (0)	1
15242	MT-CYB	Mitochondrial Encephalomyopathy	G15242A	G-A	G-Term	-	+	Reported	0.000% (0.000%)	0 (0)	2
15243	MT-CYB	HCM	G15243A	G-A	G-E	-	+	Reported	0.000% (0.000%)	0 (0)	2
15256	MT-CYB	Peripheral neuropathy of T2 diabetes	A15256G	A-G	V-V	+	-	Reported	0.008% (0.000%)	4 (0)	1
15257	MT-CYB	LHON	G15257A	G-A	D-N	+	-	Conflicting reports	1.526%  (0.000%)	791 (0)	45
15287	MT-CYB	Possible DEAF helper mut.	T15287C	T-C	F-L	-	+	Reported; hg I6a & H10c marker	0.168% (0.000%)	87 (0)	1
15395	MT-CYB	Possible LHON factor	A15395G	A-G	K-E	+	-	Reported	0.004% (0.000%)	2 (0)	1
15451	MT-CYB	Low VO2max response	C15451T	C-T	F-F	+	-	Reported	0.102% (0.000%)	53 (0)	1
15453	MT-CYB	Isolated complex III deficiency	T15453C	T-C	L-P	+	-	Reported	0.021% (0.000%)	11 (0)	1
15497	MT-CYB	EXIT / Obesity	G15497A	G-A	G-S	+	-	Reported	0.529%  (0.000%)	274 (0)	5
15498	MT-CYB	EXIT	15498_15521del24	24bp_deletion	GDPDNYTL-del	-	+	Reported	0.000% (0.000%)	0 (0)	2
15498	MT-CYB	DEAF / Infantile histiocytoid cardiomyopathy	G15498A	G-A	G-D	-	+	Reported	0.029% (0.000%)	15 (0)	7
15579	MT-CYB	Multisystem Disorder, EXIT	A15579G	A-G	Y-C	-	+	Cfrm	0.000% (0.000%)	0 (0)	5
15615	MT-CYB	EXIT / Antimycin resistance	G15615A	G-A	G-D	-	+	Reported	0.000% (0.000%)	0 (0)	3
15620	MT-CYB	Leigh Syndrome helper mut	C15620A	C-A	L-I	-	+	Reported	0.000% (0.000%)	0 (0)	1
15635	MT-CYB	Polyvisceral failure	T15635C	T-C	S-P	+	-	Reported	0.004% (0.000%)	2 (0)	1
15649	MT-CYB	Multisystem Disorder, EXIT	15649_15666del18	18bp_deletion	ILAMIP-del	-	+	Reported	0.000% (0.000%)	0 (0)	1
15662	MT-CYB	Complex mitochondriopathy-associated	A15662G	A-G	I-V	+	+	Reported	0.361%  (0.000%)	187 (0)	1
15674	MT-CYB	LHON	T15674C	T-C	S-P	+	-	Reported	0.291%  (0.000%)	151 (0)	2
15693	MT-CYB	Possibly LVNC cardiomyopathy-associated	T15693C	T-C	M-T	+	-	Reported	1.198%  (0.000%)	621 (0)	1
15699	MT-CYB	Muscle Weakness SNHL and Migraine	G15699C	G-C	R-P	-	+	Reported	0.000% (0.000%)	0 (0)	2
15723	MT-CYB	EXIT	G15723A	G-A	W-Term	-	+	Reported	0.000% (0.000%)	0 (0)	1
15761	MT-CYB	MM	G15761A	G-A	G-Term		+	Reported	0.000% (0.000%)	0 (0)	1
15762	MT-CYB	MM	G15762A	G-A	G-E	-	+	Reported	0.000% (0.000%)	0 (0)	1
15773	MT-CYB	LHON	G15773A	G-A	V-M	+	-	Possibly synergistic	0.114% (0.000%)	59 (0)	1
15784	MT-CYB	POAG - potential for association	T15784C	T-C	P-P	+	-	Reported	3.337%  (0.000%)	1730 (0)	3
15800	MT-CYB	EXIT / Myopathy	C15800T	C-T	Q-Term	-	+	Reported	0.000% (0.000%)	0 (0)	2
15804	MT-CYB	Fibromyalgia	T15804C	T-C	V-A	+	-	Reported	0.058% (0.000%)	30 (0)	1
15812	MT-CYB	LHON	G15812A	G-A	V-M	+	-	Reported / Secondary	0.920%  (0.000%)	477 (0)	20
16068	MT-CR	Low VO2max response	T16068C	T-C	HV1	+	-	Reported	0.025% (0.053%)	13 (40)	1
16081	MT-CR	Cyclic Vomiting Syndrome	A16081G	A-G	noncoding	-	+	Reported	0.008% (0.041%)	4 (31)	1
16093	MT-CR	Cyclic Vomiting Syndrome	T16093C	T-C	noncoding	-	+	Reported	5.766%  (6.379%)	2989 (4776)	2
16125	MT-CR	Low VO2max response	G16125A	G-A	HV1	+	-	Reported	0.004% (0.036%)	2 (27)	1
16129	MT-CR	Cyclic Vomiting Syndrome with Migraine	G16129A	G-A	noncoding	-	+	Reported	13.429%  (15.485%)	6961 (11593)	1
16176	MT-CR	Cyclic Vomiting Syndrome with Migraine	C16176T	C-T	noncoding	-	+	Reported	0.818%  (0.769%)	424 (576)	1
16183	MT-CR	Melanoma patients	A16183C	A-C	noncoding	nr	+	Reported	13.388%  (15.159%)	6940 (11349)	1
16189	MT-CR	Diabetes / Cardiomyopathy /cancer risk / mtDNA copy nbr / Metabolic Syndrome / Melanoma patients	T16189C	T-C	noncoding	+	-	Reported	25.367%  (26.065%)	13149 (19514)	34
16192	MT-CR	Melanoma patients	C16192T	C-T	noncoding	nr	nr	Reported	4.265%  (4.309%)	2211 (3226)	1
16217	MT-CR	Endometriosis	T16217C	T-C	noncoding	+	-	Reported	7.175%  (6.561%)	3719 (4912)	1
16270	MT-CR	Melanoma patients	C16270T	C-T	noncoding	nr	nr	Reported	4.719%  (3.202%)	2446 (2397)	1
16300	MT-CR	BD-associated	A16300G	A-G	noncoding	+	-	Reported	0.536%  (0.673%)	278 (504)	2
16318	MT-CR	Non-alcoholic steatohepatitis - potential for association	A16318C	A-C	noncoding	nr	nr	Reported	0.177% (0.147%)	92 (110)	1
16390	MT-CR	POAG - potential for association	G16390A	G-A	noncoding	+	-	Reported	5.695%  (6.035%)	2952 (4518)	3
16519	MT-CR	Cyclic Vomiting Syndrome with Migraine /metastasis	T16519T	T-T	noncoding	+	-	Reported	37.050% (0.000%)	19205 (0)	4

* FL: full length sequences, CR: control reqion sequences

‡ High Frequency Haplogroups:

Variants found in haplogroups at 50% or higher are marked with . You may click a flagged link to see the high-scoring haplogroups. For detailed info about the high frequency haplogroup flag, please check the calculation criteria.

Notes:

LHON	Leber Hereditary Optic Neuropathy	MM	Mitochondrial Myopathy
AD	Alzeimer's Disease	LIMM	Lethal Infantile Mitochondrial Myopathy
ADPD	Alzeimer's Disease and Parkinsons's Disease	MMC	Maternal Myopathy and Cardiomyopathy
NARP	Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease	FICP	Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy
MELAS	Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes	LDYT	Leber's hereditary optic neuropathy and DYsTonia
MERRF	Myoclonic Epilepsy and Ragged Red Muscle Fibers	MHCM	Maternally inherited Hypertrophic CardioMyopathy
CPEO	Chronic Progressive External Ophthalmoplegia	KSS	Kearns Sayre Syndrome
DM	Diabetes Mellitus	DMDF	Diabetes Mellitus + DeaFness
CIPO	Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia	DEAF	Maternally inherited DEAFness or aminoglycoside-induced DEAFness
PEM	Progressive encephalopathy	SNHL	SensoriNeural Hearing Loss

• Homoplasmy = pure mutant mtDNAs.
• Heteroplasmy = mixture of mutant and normal mtDNAs.
• nd = not determined.
• "Reported" status indicates that one or more publications have considered the mutation as possibly pathologic. This is not an assignment of pathogenicity by MITOMAP but is a report of literature. Previously, mutations with this status were termed "Prov" (provisional).
• "Cfrm"(confirmed) status indicates that at least two or more independent laboratories have published reports on the pathogenicity of a specific mutation. These mutations are generally accepted by the mitochondrial research community as being pathogenic. A status of "Cfrm" is not an assignment of pathogenicity by MITOMAP but is a report of published literature. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of some of these mutations.
• "P.M." (point mutation / polymorphism) status indicates that some published reports have determined the mutation to be a non-pathogenic polymorphism.