CAVIN2[gene] and "single gene"[properties] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137873	NM_004657.6(CAVIN2):c.1252G>A (p.Val418Met)	CAVIN2 (V418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536775	NM_004657.6(CAVIN2):c.1247C>T (p.Pro416Leu)	CAVIN2 (P416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263583	NM_004657.6(CAVIN2):c.1238C>T (p.Pro413Leu)	CAVIN2 (P413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717193	NM_004657.6(CAVIN2):c.1191T>C (p.Gly397=)	CAVIN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2560094	NM_004657.6(CAVIN2):c.1127T>A (p.Ile376Asn)	CAVIN2 (I376N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137872	NM_004657.6(CAVIN2):c.1086G>C (p.Arg362Ser)	CAVIN2 (R362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137897	NM_004657.6(CAVIN2):c.988G>A (p.Glu330Lys)	CAVIN2 (E330K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263584	NM_004657.6(CAVIN2):c.925G>A (p.Ala309Thr)	CAVIN2 (A309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263589	NM_004657.6(CAVIN2):c.832A>C (p.Asn278His)	CAVIN2 (N278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137896	NM_004657.6(CAVIN2):c.827C>T (p.Thr276Met)	CAVIN2 (T276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137895	NM_004657.6(CAVIN2):c.805G>A (p.Glu269Lys)	CAVIN2 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137894	NM_004657.6(CAVIN2):c.768C>A (p.Asn256Lys)	CAVIN2 (N256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137893	NM_004657.6(CAVIN2):c.743G>A (p.Arg248His)	CAVIN2 (R248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137891	NM_004657.6(CAVIN2):c.666G>T (p.Lys222Asn)	CAVIN2 (K222N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137890	NM_004657.6(CAVIN2):c.658G>A (p.Glu220Lys)	CAVIN2 (E220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137889	NM_004657.6(CAVIN2):c.613G>A (p.Asp205Asn)	CAVIN2 (D205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137888	NM_004657.6(CAVIN2):c.598G>A (p.Val200Met)	CAVIN2 (V200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137887	NM_004657.6(CAVIN2):c.586A>G (p.Thr196Ala)	CAVIN2 (T196A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597411	NM_004657.6(CAVIN2):c.569A>G (p.Asn190Ser)	CAVIN2 (N190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539286	NM_004657.6(CAVIN2):c.542A>G (p.Glu181Gly)	CAVIN2 (E181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137885	NM_004657.6(CAVIN2):c.524C>T (p.Pro175Leu)	CAVIN2 (P175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782418	NM_004657.6(CAVIN2):c.519A>G (p.Lys173=)	CAVIN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137884	NM_004657.6(CAVIN2):c.517A>G (p.Lys173Glu)	CAVIN2 (K173E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137883	NM_004657.6(CAVIN2):c.508G>A (p.Val170Met)	CAVIN2 (V170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137882	NM_004657.6(CAVIN2):c.500C>T (p.Pro167Leu)	CAVIN2 (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137881	NM_004657.6(CAVIN2):c.497T>A (p.Ile166Asn)	CAVIN2 (I166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137880	NM_004657.6(CAVIN2):c.488A>C (p.Glu163Ala)	CAVIN2 (E163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478450	NM_004657.6(CAVIN2):c.485A>T (p.Glu162Val)	CAVIN2 (E162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263587	NM_004657.6(CAVIN2):c.484G>A (p.Glu162Lys)	CAVIN2 (E162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137879	NM_004657.6(CAVIN2):c.455G>A (p.Arg152His)	CAVIN2 (R152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137878	NM_004657.6(CAVIN2):c.452G>A (p.Arg151Gln)	CAVIN2 (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263586	NM_004657.6(CAVIN2):c.444G>T (p.Gln148His)	CAVIN2 (Q148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32