"Ambry Genetics"[submitter] AND "LOC130062328"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2405709	NM_001142730.3(KCTD1):c.151T>A (p.Cys51Ser)	KCTD1, LOC130062328 (C51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405708	NM_001142730.3(KCTD1):c.149A>G (p.Tyr50Cys)	KCTD1, LOC130062328 (Y50C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405707	NM_001142730.3(KCTD1):c.146A>G (p.His49Arg)	KCTD1, LOC130062328 (H49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569361	NM_001142730.3(KCTD1):c.136A>G (p.Ser46Gly)	KCTD1, LOC130062328 (S46G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3287795	NM_001142730.3(KCTD1):c.125G>T (p.Gly42Val)	KCTD1, LOC130062328 (G42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279304	NM_001142730.3(KCTD1):c.121C>T (p.Arg41Cys)	KCTD1, LOC130062328 (R41C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312773	NM_001142730.3(KCTD1):c.118G>A (p.Gly40Ser)	KCTD1, LOC130062328 (G40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113582	NM_001142730.3(KCTD1):c.109G>C (p.Gly37Arg)	KCTD1, LOC130062328 (G37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113593	NM_001142730.3(KCTD1):c.95G>A (p.Gly32Asp)	KCTD1, LOC130062328 (G32D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance