CASP2[gene] and "single gene"[properties] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137595	NM_032982.4(CASP2):c.85G>A (p.Val29Met)	CASP2 (V29M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 715721	NM_032982.4(CASP2):c.87G>A (p.Val29=)	CASP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2499471	NM_032982.4(CASP2):c.130C>T (p.Arg44Ter)	CASP2 (R13* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2219761	NM_032982.4(CASP2):c.150G>C (p.Gln50His)	CASP2 (Q19H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137590	NM_032982.4(CASP2):c.162C>G (p.Ser54Arg)	CASP2 (S54R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137591	NM_032982.4(CASP2):c.433T>C (p.Cys145Arg)	CASP2 (C145R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768215	NM_032982.4(CASP2):c.453C>T (p.Tyr151=)	CASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2589645	NM_032982.4(CASP2):c.531G>T (p.Lys177Asn)	CASP2 (K146N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036802	NM_032982.4(CASP2):c.532C>G (p.Pro178Ala)	CASP2 (A105G +2 more)	Single nucleotide variant (missense variant)	CASP2-related disorder	GLikely benign
Select item 2254917	NM_032982.4(CASP2):c.544G>A (p.Glu182Lys)	CASP2 (E182K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 985938	NM_032982.4(CASP2):c.560_561del (p.His187fs)	CASP2 (H156fs +1 more)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2470872	NM_032982.4(CASP2):c.596G>A (p.Arg199His)	CASP2 (R168H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137592	NM_032982.4(CASP2):c.641A>G (p.Lys214Arg)	CASP2 (K214R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137594	NM_032982.4(CASP2):c.753G>A (p.Met251Ile)	CASP2 (M220I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774665	NM_032982.4(CASP2):c.762A>G (p.Lys254=)	CASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2658111	NM_032982.4(CASP2):c.793C>G (p.Arg265Gly)	CASP2 (R234G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 710251	NM_032982.4(CASP2):c.801G>A (p.Thr267=)	CASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3263426	NM_032982.4(CASP2):c.818C>T (p.Ala273Val)	CASP2 (A273V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499511	NM_032982.4(CASP2):c.876+1G>T	CASP2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 3040385	NM_032982.4(CASP2):c.876+9A>G	CASP2	Single nucleotide variant (intron variant)	CASP2-related disorder	GLikely benign
Select item 3049220	NM_032982.4(CASP2):c.906C>T (p.Asn302=)	CASP2	Single nucleotide variant (synonymous variant +1 more)	CASP2-related disorder	GLikely benign
Select item 2658112	NM_032982.4(CASP2):c.926A>G (p.Gln309Arg)	CASP2 (Q278R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2241686	NM_032982.4(CASP2):c.935C>T (p.Pro312Leu)	CASP2 (P312L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219015	NM_032982.4(CASP2):c.991C>G (p.Gln331Glu)	CASP2 (Q331E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2250529	NM_032982.4(CASP2):c.1004A>G (p.Lys335Arg)	CASP2 (K335R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3043963	NM_032982.4(CASP2):c.1011C>T (p.His337=)	CASP2	Single nucleotide variant (3 prime UTR variant +1 more)	CASP2-related disorder	GLikely benign
Select item 2204082	NM_032982.4(CASP2):c.1060C>G (p.Pro354Ala)	CASP2 (P354A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 709219	NM_032982.4(CASP2):c.1062G>A (p.Pro354=)	CASP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2555564	NM_032982.4(CASP2):c.1081C>T (p.Arg361Cys)	CASP2 (R361C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2499469	NM_032982.4(CASP2):c.1156del (p.Tyr386fs)	CASP2 (Y386fs)	Deletion (3 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 710252	NM_032982.4(CASP2):c.1161C>T (p.Ile387=)	CASP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2499470	NM_032982.4(CASP2):c.1174C>T (p.Gln392Ter)	CASP2 (Q392*)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2596943	NM_032982.4(CASP2):c.1190G>A (p.Arg397Gln)	CASP2 (R397Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2658113	NM_032982.4(CASP2):c.1236A>C (p.Ala412=)	CASP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2547794	NM_032982.4(CASP2):c.1250G>A (p.Arg417Gln)	CASP2 (R417Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 35