CHCHD6[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266821	NM_032343.3(CHCHD6):c.161G>A (p.Gly54Asp)	CHCHD6 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144071	NM_032343.3(CHCHD6):c.163C>T (p.Leu55Phe)	CHCHD6 (L55F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144072	NM_032343.3(CHCHD6):c.386A>T (p.His129Leu)	CHCHD6 (H129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144073	NM_032343.3(CHCHD6):c.407G>A (p.Arg136Gln)	CHCHD6 (R136Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282616	NM_032343.3(CHCHD6):c.499G>A (p.Ala167Thr)	CHCHD6 (A167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539928	NM_032343.3(CHCHD6):c.509A>G (p.Tyr170Cys)	CHCHD6 (Y170C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247435	NM_032343.3(CHCHD6):c.560C>A (p.Thr187Lys)	CHCHD6 (T187K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783402	NM_032343.3(CHCHD6):c.579G>A (p.Val193=)	CHCHD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144075	NM_032343.3(CHCHD6):c.604G>C (p.Ala202Pro)	CHCHD6 (A202P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242349	NM_032343.3(CHCHD6):c.626G>A (p.Arg209Gln)	CHCHD6 (R209Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259987	NM_032343.3(CHCHD6):c.634C>A (p.Pro212Thr)	CHCHD6 (P212T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369244	NM_032343.3(CHCHD6):c.635C>T (p.Pro212Leu)	CHCHD6 (P212L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233647	NM_032343.3(CHCHD6):c.635C>A (p.Pro212Gln)	CHCHD6 (P212Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266818	NM_032343.3(CHCHD6):c.680G>A (p.Arg227His)	CHCHD6 (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266819	NM_032343.3(CHCHD6):c.691G>A (p.Ala231Thr)	CHCHD6 (A231T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808827	GRCh37/hg19 3q21.3(chr3:126534228-126608496)x1	CHCHD6	Copy number loss	not provided	GUncertain significance