ClinVar for Gene (Select 400916) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148953	GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GUncertain significance
Select item 3148894	GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GUncertain significance
Select item 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GPathogenic
Select item 3144059	NM_213720.3(CHCHD10):c.98C>T (p.Ala33Val)	CHCHD10 (A33V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144058	NM_213720.3(CHCHD10):c.406C>T (p.His136Tyr)	CHCHD10 (H143Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3144057	NM_213720.3(CHCHD10):c.189C>G (p.His63Gln)	CHCHD10 (H63Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063979	NM_213720.3(CHCHD10):c.228G>C (p.Gly76=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3048545	NM_213720.3(CHCHD10):c.270C>T (p.Thr90=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	CHCHD10-related disorder	GLikely benign
Select item 3046372	NM_213720.3(CHCHD10):c.*8G>A	CHCHD10	Single nucleotide variant (3 prime UTR variant +1 more)	CHCHD10-related disorder	GLikely benign
Select item 3041658	NM_213720.3(CHCHD10):c.276T>G (p.Ala92=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	CHCHD10-related disorder	GLikely benign
Select item 3037190	NM_213720.3(CHCHD10):c.27C>T (p.Ala9=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	CHCHD10-related disorder	GLikely benign
Select item 3032344	NM_213720.3(CHCHD10):c.-6G>T	CHCHD10	Single nucleotide variant (5 prime UTR variant +1 more)	CHCHD10-related disorder	GLikely benign
Select item 3032112	NM_213720.3(CHCHD10):c.262-28C>T	CHCHD10	Single nucleotide variant (intron variant)	CHCHD10-related disorder	GLikely benign
Select item 2954531	NM_213720.3(CHCHD10):c.409+18G>A	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2952775	NM_213720.3(CHCHD10):c.274del (p.Ala92fs)	CHCHD10 (A99fs +1 more)	Deletion (frameshift variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2949685	NM_213720.3(CHCHD10):c.42-4G>T	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +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 2949124	NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp)	CHCHD10 (A46D)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2947193	NM_213720.3(CHCHD10):c.162G>T (p.Gly54=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely 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 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 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 2943481	NM_213720.3(CHCHD10):c.410-3C>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 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)	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)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2939979	NM_213720.3(CHCHD10):c.42-9C>T	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2939327	NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)	CHCHD10 (A33S)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2939145	NM_213720.3(CHCHD10):c.228G>T (p.Gly76=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	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)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2938453	NM_213720.3(CHCHD10):c.42-18T>C	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2936546	NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu)	CHCHD10 (P34L)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2936184	NM_213720.3(CHCHD10):c.159A>G (p.Ala53=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2935998	NM_213720.3(CHCHD10):c.42-6C>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2935082	NM_213720.3(CHCHD10):c.75G>A (p.Ala25=)	CHCHD10	Single nucleotide variant (synonymous variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2933796	NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)	CHCHD10 (H26N)	Single nucleotide variant (missense variant)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2932803	NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr)	CHCHD10 (A13T)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
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 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 2930019	NM_213720.3(CHCHD10):c.42-15C>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 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 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 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 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 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 2922556	NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)	CHCHD10 (P29L)	Single nucleotide variant (missense variant)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2921870	NM_213720.3(CHCHD10):c.75G>C (p.Ala25=)	CHCHD10	Single nucleotide variant (synonymous variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2684933	GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 2683560	NM_213720.3(CHCHD10):c.31C>T (p.Arg11Trp)	CHCHD10 (R11W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2652970	NM_213720.3(CHCHD10):c.69G>C (p.Pro23=)	CHCHD10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652969	NM_213720.3(CHCHD10):c.233C>T (p.Ser78Leu)	CHCHD10 (S78L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652968	NM_213720.3(CHCHD10):c.271C>A (p.Pro91Thr)	CHCHD10 (P91T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582004	NM_213720.3(CHCHD10):c.259C>T (p.Gln87Ter)	CHCHD10 (Q87*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2578919	NM_213720.3(CHCHD10):c.287C>A (p.Pro96His)	CHCHD10 (P103H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578055	NM_213720.3(CHCHD10):c.103G>T (p.Ala35Ser)	CHCHD10 (A35S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574496	NM_213720.3(CHCHD10):c.142A>C (p.Met48Leu)	CHCHD10 (M48L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2506549	GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)	BCR, C22orf15 +16 more	Copy number loss	Schwannomatosis 1	GPathogenic
Select item 2504323	NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val)	CHCHD10 (A49V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2484092	NM_213720.3(CHCHD10):c.223G>A (p.Gly75Arg)	CHCHD10 (G75R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444388	NM_213720.3(CHCHD10):c.95C>G (p.Ala32Gly)	CHCHD10 (A32G)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset	GUncertain significance
Select item 2427792	NC_000022.10:g.(?_24109541)_(24110061_?)del	CHCHD10	Deletion	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2427791	NC_000022.10:g.(?_24108194)_(24108482_?)del	CHCHD10	Deletion	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
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 +3 more	GLikely benign
Select item 2416993	NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr)	CHCHD10 (A35T)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2290322	NM_213720.3(CHCHD10):c.262G>A (p.Ala88Thr)	CHCHD10 (A88T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2200989	NM_213720.3(CHCHD10):c.42-10A>G	CHCHD10	Single nucleotide variant (intron variant)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GLikely benign
Select item 2197981	NM_213720.3(CHCHD10):c.134T>A (p.Met45Lys)	CHCHD10 (M45K)	Single nucleotide variant (missense variant +1 more)	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)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GLikely benign
Select item 2187552	NM_213720.3(CHCHD10):c.48A>T (p.Pro16=)	CHCHD10	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 2170958	NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu)	CHCHD10 (G54E)	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 2161055	NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)	CHCHD10 (D111N +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2159800	NM_213720.3(CHCHD10):c.409+17C>T	CHCHD10	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 2159091	NM_213720.3(CHCHD10):c.207G>A (p.Leu69=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 2156986	NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)	CHCHD10 (C132fs +1 more)	Duplication (frameshift variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 2138420	NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)	CHCHD10 (P23T)	Single nucleotide variant (missense variant)	Autosomal dominant mitochondrial myopathy with exercise intolerance +3 more	GUncertain significance
Select item 2134346	NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)	CHCHD10 (A33P)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 2112404	NM_213720.3(CHCHD10):c.129G>A (p.Gly43=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2083776	NM_213720.3(CHCHD10):c.41+17G>A	CHCHD10	Single nucleotide variant (intron variant)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GLikely benign
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 2049662	NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)	CHCHD10 (Q82*)	Single nucleotide variant (nonsense +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
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 2041829	NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)	CHCHD10 (E105K +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
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 2029690	NM_213720.3(CHCHD10):c.361C>T (p.Leu121=)	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 1983273	NM_213720.3(CHCHD10):c.41+9G>A	CHCHD10	Single nucleotide variant (intron variant)	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 1964326	NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser)	CHCHD10 (A53S)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
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 1955643	NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1954266	NM_213720.3(CHCHD10):c.84G>T (p.Pro28=)	CHCHD10	Single nucleotide variant (synonymous variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1950101	NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)	CHCHD10 (S74N)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
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 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 1912378	NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)	CHCHD10 (R6S)	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 1897589	NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)	CHCHD10 (R15C)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance

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