"Ambry Genetics"[submitter] AND "CHCHD10"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 473427	NM_213720.3(CHCHD10):c.378C>T (p.Ser126=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +4 more	GLikely benign
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 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 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 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 1259100	NM_213720.3(CHCHD10):c.274G>C (p.Ala92Pro)	CHCHD10 (A92P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1250381	NM_213720.3(CHCHD10):c.268A>C (p.Thr90Pro)	CHCHD10 (T90P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
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 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 204292	NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)	CHCHD10 (P80L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 473423	NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
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 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 655998	NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)	CHCHD10 (G66S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +5 more	GConflicting classifications of pathogenicity
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 506461	NM_213720.3(CHCHD10):c.171G>A (p.Val57=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GLikely benign
Select item 655109	NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala)	CHCHD10 (T51A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1752693	NM_213720.3(CHCHD10):c.121C>T (p.Gln41Ter)	CHCHD10 (Q41*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 540613	NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu)	CHCHD10 (P38L)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +3 more	GLikely benign
Select item 204291	NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)	CHCHD10 (P34S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
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 1766487	NM_213720.3(CHCHD10):c.92C>T (p.Ala31Val)	CHCHD10 (A31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1397008	NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser)	CHCHD10 (P27S)	Single nucleotide variant (missense variant)	Lower motor neuron syndrome with late-adult onset +3 more	GUncertain significance
Select item 2138420	NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)	CHCHD10 (P23T)	Single nucleotide variant (missense variant)	Lower motor neuron syndrome with late-adult onset +3 more	GUncertain significance
Select item 734668	NM_213720.3(CHCHD10):c.63C>T (p.Ala21=)	CHCHD10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1750404	NM_213720.3(CHCHD10):c.58T>G (p.Ser20Ala)	CHCHD10 (S20A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1080264	NM_213720.3(CHCHD10):c.42-5C>T	CHCHD10	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1794902	NM_213720.3(CHCHD10):c.26C>T (p.Ala9Val)	CHCHD10 (A9V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 473422	NM_213720.3(CHCHD10):c.21C>T (p.Ser7=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign

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Items: 32