"Ambry Genetics"[submitter] AND "CHTF8"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2362922	NM_001039690.5(CHTF8):c.325C>T (p.Arg109Cys)	CHTF8, DERPC (R109C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3267291	NM_001039690.5(CHTF8):c.320A>C (p.Lys107Thr)	CHTF8, DERPC (K107T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2331779	NM_001039690.5(CHTF8):c.277C>T (p.Arg93Trp)	CHTF8, DERPC (R93W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2224865	NM_001039690.5(CHTF8):c.263G>A (p.Arg88His)	CHTF8, DERPC (R88H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211031	NM_001039690.5(CHTF8):c.262C>A (p.Arg88Ser)	CHTF8, DERPC (R88S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144854	NM_001039690.5(CHTF8):c.201G>C (p.Glu67Asp)	CHTF8, DERPC (E67D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2476819	NM_001039690.5(CHTF8):c.178T>C (p.Tyr60His)	CHTF8, DERPC (Y60H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144855	NM_001039690.5(CHTF8):c.98G>A (p.Gly33Glu)	CHTF8, DERPC (G33E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2330133	NM_001039690.5(CHTF8):c.85C>T (p.Arg29Cys)	CHTF8, DERPC (R29C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2330132	NM_001039690.5(CHTF8):c.83C>T (p.Ala28Val)	CHTF8, DERPC (A28V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance