"Ambry Genetics"[submitter] AND "CAPRIN2"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2556523	NM_001385503.1(CAPRIN2):c.3107C>T (p.Thr1036Met)	CAPRIN2 (T1082M +24 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2372057	NM_001385503.1(CAPRIN2):c.2617G>A (p.Glu873Lys)	CAPRIN2 (E515K +24 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2209826	NM_001385503.1(CAPRIN2):c.2555G>A (p.Arg852Gln)	CAPRIN2 (E580K +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386271	NM_001385503.1(CAPRIN2):c.2539A>T (p.Thr847Ser)	CAPRIN2 (T537S +26 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2294616	NM_001385503.1(CAPRIN2):c.2480A>G (p.Tyr827Cys)	CAPRIN2 (Y541C +26 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287265	NM_001385503.1(CAPRIN2):c.2267T>C (p.Leu756Pro)	CAPRIN2 (L420P +19 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2523821	NM_001385503.1(CAPRIN2):c.2169G>T (p.Gln723His)	CAPRIN2 (Q413H +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601957	NM_001385503.1(CAPRIN2):c.2135G>A (p.Ser712Asn)	CAPRIN2 (S376N +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212669	NM_001385503.1(CAPRIN2):c.2049G>T (p.Gln683His)	CAPRIN2 (Q396H +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2301572	NM_001385503.1(CAPRIN2):c.1960A>G (p.Met654Val)	CAPRIN2 (M367V +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489782	NM_001385503.1(CAPRIN2):c.1936T>G (p.Ser646Ala)	CAPRIN2 (S394A +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489356	NM_001385503.1(CAPRIN2):c.1877C>T (p.Thr626Ile)	CAPRIN2 (T351I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2507609	NM_001385503.1(CAPRIN2):c.1721C>T (p.Ser574Leu)	CAPRIN2 (S574L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406576	NM_001385503.1(CAPRIN2):c.1715C>T (p.Pro572Leu)	CAPRIN2 (P572L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604900	NM_001385503.1(CAPRIN2):c.1568G>C (p.Gly523Ala)	CAPRIN2 (G523A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608810	NM_001385503.1(CAPRIN2):c.1510C>T (p.Pro504Ser)	CAPRIN2 (P252S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487561	NM_001385503.1(CAPRIN2):c.1472T>C (p.Val491Ala)	CAPRIN2 (V216A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486155	NM_001385503.1(CAPRIN2):c.1468G>A (p.Gly490Arg)	CAPRIN2 (G490R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337575	NM_001385503.1(CAPRIN2):c.1352C>G (p.Pro451Arg)	CAPRIN2 (P176R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623582	NM_001385503.1(CAPRIN2):c.988G>C (p.Asp330His)	CAPRIN2 (D330H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623271	NM_001385503.1(CAPRIN2):c.811G>C (p.Glu271Gln)	CAPRIN2 (E271Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2536614	NM_001385503.1(CAPRIN2):c.731A>G (p.Glu244Gly)	CAPRIN2 (E325G +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2295548	NM_001385503.1(CAPRIN2):c.656A>T (p.His219Leu)	CAPRIN2 (H300L +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2314822	NM_001385503.1(CAPRIN2):c.412C>A (p.Gln138Lys)	CAPRIN2 (Q219K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2246684	NM_001385503.1(CAPRIN2):c.247G>A (p.Val83Ile)	CAPRIN2 (V83I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2271182	NM_001385503.1(CAPRIN2):c.130G>C (p.Gly44Arg)	CAPRIN2 (G44R +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2513164	NM_001385503.1(CAPRIN2):c.51G>C (p.Gln17His)	CAPRIN2 (Q17H +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2471002	NM_001385503.1(CAPRIN2):c.36G>T (p.Gln12His)	CAPRIN2 (Q12H +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2386700	NM_001385503.1(CAPRIN2):c.-39-90A>C	CAPRIN2 (S39R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2362525	NM_001385503.1(CAPRIN2):c.-39-136G>T	CAPRIN2 (E23D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 30