"Ambry Genetics"[submitter] AND "CASP6"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2268496	NM_017918.5(MCUB):c.959G>A (p.Arg320His)	CASP6, MCUB (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137621	NM_001226.4(CASP6):c.802A>G (p.Ser268Gly)	CASP6 (S268G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263434	NM_001226.4(CASP6):c.779G>A (p.Arg260Gln)	CASP6 (R171Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263437	NM_001226.4(CASP6):c.772C>G (p.Gln258Glu)	CASP6 (Q169E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298601	NM_001226.4(CASP6):c.623T>C (p.Met208Thr)	CASP6 (M208T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137619	NM_001226.4(CASP6):c.589G>A (p.Val197Ile)	CASP6 (V108I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263436	NM_001226.4(CASP6):c.530T>C (p.Val177Ala)	CASP6 (V177A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2264480	NM_001226.4(CASP6):c.494G>T (p.Gly165Val)	CASP6 (G76V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137618	NM_001226.4(CASP6):c.359G>C (p.Ser120Thr)	CASP6 (S120T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389918	NM_001226.4(CASP6):c.227G>A (p.Arg76His)	CASP6 (R76H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2228692	NM_001226.4(CASP6):c.226C>T (p.Arg76Cys)	CASP6 (R76C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262671	NM_001226.4(CASP6):c.172C>T (p.His58Tyr)	CASP6 (H58Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137617	NM_001226.4(CASP6):c.157G>C (p.Glu53Gln)	CASP6 (E53Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance