"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CHCHD10 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 665651	NC_000022.10:g.(?_24108011)_(24110169_?)dup	C22orf15, CHCHD10	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 473419	NC_000022.10:g.(?_24108174)_(24110081_?)dup	CHCHD10	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 1395106	NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr)	CHCHD10 (P142T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 2922604	NM_213720.3(CHCHD10):c.412C>T (p.Leu138=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 648284	NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val)	CHCHD10 (G137V +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 2943481	NM_213720.3(CHCHD10):c.410-3C>G	CHCHD10	Single nucleotide variant (intron variant)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 968488	NM_213720.3(CHCHD10):c.410-3C>T	CHCHD10	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 763752	NM_213720.3(CHCHD10):c.410-8del	CHCHD10	Deletion (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1591949	NM_213720.3(CHCHD10):c.410-12C>T	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2924760	NM_213720.3(CHCHD10):c.410-13C>T	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1584681	NM_213720.3(CHCHD10):c.410-14C>T	CHCHD10	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 2949421	NM_213720.3(CHCHD10):c.410-15C>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1597111	NM_213720.3(CHCHD10):c.410-17T>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1562244	NM_213720.3(CHCHD10):c.410-19G>C	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2954531	NM_213720.3(CHCHD10):c.409+18G>A	CHCHD10	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 2159800	NM_213720.3(CHCHD10):c.409+17C>T	CHCHD10	Single nucleotide variant (intron variant)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GLikely benign
Select item 2193892	NM_213720.3(CHCHD10):c.409+15C>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +3 more	GLikely benign
Select item 2930648	NM_213720.3(CHCHD10):c.409+11G>C	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1570727	NM_213720.3(CHCHD10):c.409+11G>A	CHCHD10	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 1026524	NM_213720.3(CHCHD10):c.409+1G>A	CHCHD10	Single nucleotide variant (splice donor variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 1448810	NM_213720.3(CHCHD10):c.408T>C (p.His136=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 540614	NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His)	CHCHD10 (Y135H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GLikely benign
Select item 1930456	NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)	CHCHD10 (Y134* +1 more)	Single nucleotide variant (nonsense +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2156986	NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)	CHCHD10 (C132fs +1 more)	Duplication (frameshift variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1980844	NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)	CHCHD10 (C139Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 1394238	NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg)	CHCHD10 (K137R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 568579	NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro)	CHCHD10 (L129P +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 836327	NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser)	CHCHD10 (A128S +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2923047	NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)	CHCHD10 (E134K +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 473427	NM_213720.3(CHCHD10):c.378C>T (p.Ser126=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GLikely benign
Select item 640224	NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn)	CHCHD10 (S126N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 1087435	NM_213720.3(CHCHD10):c.372C>T (p.Gly124=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1495146	NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe)	CHCHD10 (C129F +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 2944997	NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)	CHCHD10 (C129R +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2029690	NM_213720.3(CHCHD10):c.361C>T (p.Leu121=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 1963379	NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)	CHCHD10 (S120F +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2162995	NM_213720.3(CHCHD10):c.357G>T (p.Leu119=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2023392	NM_213720.3(CHCHD10):c.354C>T (p.Asp118=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 951138	NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu)	CHCHD10 (D118E +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1352828	NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn)	CHCHD10 (S117N +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 473426	NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys)	CHCHD10 (S117C +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 1435510	NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg)	CHCHD10 (C119R +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 652408	NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly)	CHCHD10 (D118G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2161055	NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)	CHCHD10 (D111N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 473425	NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +4 more	GBenign/Likely benign
Select item 540612	NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu)	CHCHD10 (F109L +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1399846	NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro)	CHCHD10 (Q108P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2941163	NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)	CHCHD10 (Q108K +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 2923667	NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)	CHCHD10 (Q115* +1 more)	Single nucleotide variant (nonsense +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2041829	NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)	CHCHD10 (E105K +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 569761	NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter)	CHCHD10 (Y104* +1 more)	Single nucleotide variant (nonsense +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 565755	NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)	CHCHD10 (Y104* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 379953	NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 1387504	NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val)	CHCHD10 (A103V +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1923992	NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr)	CHCHD10 (A103T +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1131484	NM_213720.3(CHCHD10):c.306C>T (p.Cys102=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1052112	NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu)	CHCHD10 (P101L +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1488759	NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg)	CHCHD10 (P103R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 473424	NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr)	CHCHD10 (P96T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1406577	NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter)	CHCHD10 (Q102* +1 more)	Single nucleotide variant (nonsense +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 567906	NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2952775	NM_213720.3(CHCHD10):c.274del (p.Ala92fs)	CHCHD10 (A99fs +1 more)	Deletion (frameshift variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 540611	NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)	CHCHD10 (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1955643	NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 776092	NM_213720.3(CHCHD10):c.273C>T (p.Pro91=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2421043	NM_213720.3(CHCHD10):c.267C>T (p.Pro89=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1036655	NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp)	CHCHD10 (A95D +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 940618	NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser)	CHCHD10 (A95S +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 1429139	NM_213720.3(CHCHD10):c.262-3C>G	CHCHD10 (Q94E)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +3 more	GUncertain significance
Select item 2930270	NM_213720.3(CHCHD10):c.262-4C>G	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1078687	NM_213720.3(CHCHD10):c.262-4C>T	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 1107056	NM_213720.3(CHCHD10):c.262-5C>T	CHCHD10 (P93L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1533419	NM_213720.3(CHCHD10):c.262-7C>T	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2046456	NM_213720.3(CHCHD10):c.262-11T>A	CHCHD10 (L91Q)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1628449	NM_213720.3(CHCHD10):c.262-14C>T	CHCHD10 (A90V)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 2923770	NM_213720.3(CHCHD10):c.262-18C>T	CHCHD10 (L89F)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1532096	NM_213720.3(CHCHD10):c.261+17A>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2944993	NM_213720.3(CHCHD10):c.261+11_261+12delinsGC	CHCHD10	Indel (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2061695	NM_213720.3(CHCHD10):c.261+10_261+11delinsAG	CHCHD10	Indel (intron variant)	Lower motor neuron syndrome with late-adult onset +3 more	GConflicting classifications of pathogenicity
Select item 379952	NM_213720.3(CHCHD10):c.261+11A>G	CHCHD10	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 2036297	NM_213720.3(CHCHD10):c.261+10G>C	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 654106	NC_000022.11:g.(?_23767364)_(23767982_?)del	CHCHD10	Deletion	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 743910	NM_213720.3(CHCHD10):c.261+9C>A	CHCHD10	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 1651266	NM_213720.3(CHCHD10):c.261+7A>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2938640	NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro)	CHCHD10 (A84P)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 2049662	NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)	CHCHD10 (Q82*)	Single nucleotide variant (nonsense +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2941018	NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro)	CHCHD10 (S81P)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 204292	NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)	CHCHD10 (P80L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1021740	NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys)	CHCHD10 (E79K)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1900233	NM_213720.3(CHCHD10):c.234G>C (p.Ser78=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 473423	NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2946820	NM_213720.3(CHCHD10):c.231C>T (p.Ser77=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 705839	NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly)	CHCHD10 (S77G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GLikely benign
Select item 2939145	NM_213720.3(CHCHD10):c.228G>T (p.Gly76=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 640736	NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu)	CHCHD10 (G75E)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1950101	NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)	CHCHD10 (S74N)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2922669	NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)	CHCHD10 (A72V)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 652563	NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro)	CHCHD10 (A72P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 473421	NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)	CHCHD10 (A72T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1313416	NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg)	CHCHD10 (G71R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +3 more	GUncertain significance

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