"Ambry Genetics"[submitter] AND "CASP5"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209080	NM_004347.5(CASP5):c.1144G>C (p.Glu382Gln)	CASP5 (E240Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224599	NM_004347.5(CASP5):c.1118G>A (p.Arg373His)	CASP5 (R386H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476555	NM_004347.5(CASP5):c.1082G>C (p.Cys361Ser)	CASP5 (C303S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259163	NM_004347.5(CASP5):c.1076C>T (p.Ala359Val)	CASP5 (A301V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276773	NM_004347.5(CASP5):c.938A>G (p.Gln313Arg)	CASP5 (Q171R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137616	NM_004347.5(CASP5):c.925G>A (p.Val309Ile)	CASP5, LOC121392937 (V167I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559226	NM_004347.5(CASP5):c.914A>G (p.Asp305Gly)	CASP5, LOC121392937 (D163G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210038	NM_004347.5(CASP5):c.823G>A (p.Gly275Arg)	CASP5, LOC121392937 (G133R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137615	NM_004347.5(CASP5):c.770C>T (p.Ser257Phe)	CASP5, LOC121392937 (S39F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383900	NM_004347.5(CASP5):c.667C>T (p.Leu223Phe)	CASP5 (L165F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137614	NM_004347.5(CASP5):c.663G>C (p.Arg221Ser)	CASP5 (R163S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298213	NM_004347.5(CASP5):c.611A>T (p.Asp204Val)	CASP5 (D146V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357531	NM_004347.5(CASP5):c.599A>T (p.Asn200Ile)	CASP5 (N58I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137612	NM_004347.5(CASP5):c.583G>A (p.Ala195Thr)	CASP5 (A137T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137611	NM_004347.5(CASP5):c.577C>T (p.Arg193Cys)	CASP5 (R193C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137609	NM_004347.5(CASP5):c.572G>A (p.Arg191His)	CASP5 (R49H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389952	NM_004347.5(CASP5):c.571C>T (p.Arg191Cys)	CASP5 (R133C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568892	NM_004347.5(CASP5):c.497G>T (p.Cys166Phe)	CASP5 (C166F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369133	NM_004347.5(CASP5):c.484A>G (p.Ile162Val)	CASP5 (I104V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308892	NM_004347.5(CASP5):c.422C>T (p.Thr141Ile)	CASP5 (T154I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137608	NM_004347.5(CASP5):c.418A>T (p.Ile140Phe)	CASP5 (I140F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271884	NM_004347.5(CASP5):c.293A>G (p.Glu98Gly)	CASP5 (E111G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619450	NM_004347.5(CASP5):c.254A>G (p.Asn85Ser)	CASP5 (N27S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267900	NM_004347.5(CASP5):c.248T>C (p.Val83Ala)	CASP5 (V96A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137606	NM_004347.5(CASP5):c.115G>A (p.Val39Met)	CASP5 (V52M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3137613	NM_004347.5(CASP5):c.59G>T (p.Gly20Val)	CASP5 (G20V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320312	NM_004347.5(CASP5):c.32G>A (p.Arg11His)	CASP5 (R24H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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Items: 27