"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CHCHD10"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 473427	NM_213720.3(CHCHD10):c.378C>T (p.Ser126=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GLikely benign
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 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 204292	NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)	CHCHD10 (P80L)	Single nucleotide variant (missense variant +1 more)	CHCHD10-related condition +6 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)	Lower motor neuron syndrome with late-adult onset +5 more	GBenign/Likely 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 506461	NM_213720.3(CHCHD10):c.171G>A (p.Val57=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	CHCHD10-related condition +6 more	GLikely benign
Select item 204291	NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)	CHCHD10 (P34S)	Single nucleotide variant (missense variant +1 more)	CHCHD10-related condition +5 more	GBenign/Likely benign
Select item 2652970	NM_213720.3(CHCHD10):c.69G>C (p.Pro23=)	CHCHD10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 473428	NM_213720.3(CHCHD10):c.41+7G>A	CHCHD10	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	GUCD1, IGLC1 +32 more	Copy number gain	not provided	GLikely pathogenic