"Ambry Genetics"[submitter] AND "LOC130066590"[gene] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2241480	NM_053277.3(CLIC6):c.38G>A (p.Gly13Asp)	CLIC6, LOC130066590 (G13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564414	NM_053277.3(CLIC6):c.89A>T (p.Glu30Val)	CLIC6, LOC130066590 (E30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145770	NM_053277.3(CLIC6):c.128G>C (p.Gly43Ala)	CLIC6, LOC130066590 (G43A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145772	NM_053277.3(CLIC6):c.133G>C (p.Glu45Gln)	CLIC6, LOC130066590 (E45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407794	NM_053277.3(CLIC6):c.178G>T (p.Ala60Ser)	CLIC6, LOC130066590 (A60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362921	NM_053277.3(CLIC6):c.227C>T (p.Thr76Met)	CLIC6, LOC130066590 (T76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145781	NM_053277.3(CLIC6):c.230G>C (p.Arg77Thr)	CLIC6, LOC130066590 (R77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207780	NM_053277.3(CLIC6):c.241G>A (p.Gly81Ser)	CLIC6, LOC130066590 (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145782	NM_053277.3(CLIC6):c.248C>T (p.Thr83Ile)	CLIC6, LOC130066590 (T83I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145783	NM_053277.3(CLIC6):c.283G>A (p.Val95Met)	CLIC6, LOC130066590 (V95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489785	NM_053277.3(CLIC6):c.310G>A (p.Gly104Ser)	CLIC6, LOC130066590 (G104S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145784	NM_053277.3(CLIC6):c.337C>T (p.Pro113Ser)	CLIC6, LOC130066590 (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance