"Ambry Genetics"[submitter] AND "SV2B"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323713	NM_001323032.3(SV2B):c.32G>C (p.Gly11Ala)	SV2B (G11A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172335	NM_001323032.3(SV2B):c.40G>A (p.Ala14Thr)	SV2B (A14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172336	NM_001323032.3(SV2B):c.61C>T (p.Arg21Cys)	SV2B (R21C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172337	NM_001323032.3(SV2B):c.62G>A (p.Arg21His)	SV2B (R21H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172338	NM_001323032.3(SV2B):c.68A>G (p.Asn23Ser)	SV2B (N23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244405	NM_001323032.3(SV2B):c.85G>C (p.Glu29Gln)	SV2B (E29Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284320	NM_001323032.3(SV2B):c.133A>G (p.Ile45Val)	SV2B (I45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323716	NM_001323032.3(SV2B):c.155G>A (p.Gly52Asp)	SV2B (G52D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358444	NM_001323032.3(SV2B):c.157A>G (p.Ile53Val)	SV2B (I53V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612676	NM_001323032.3(SV2B):c.237C>A (p.Asp79Glu)	SV2B (D79E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253553	NM_001323032.3(SV2B):c.270G>C (p.Gln90His)	SV2B (Q90H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233623	NM_001323032.3(SV2B):c.316C>T (p.Arg106Cys)	SV2B (R106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323714	NM_001323032.3(SV2B):c.337T>C (p.Phe113Leu)	SV2B (F113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484151	NM_001323032.3(SV2B):c.340G>A (p.Val114Ile)	SV2B (V114I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282285	NM_001323032.3(SV2B):c.347G>A (p.Gly116Asp)	SV2B (G116D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291583	NM_001323032.3(SV2B):c.538A>T (p.Met180Leu)	SV2B (M180L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526362	NM_001323032.3(SV2B):c.550G>A (p.Val184Ile)	SV2B (V33I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2355522	NM_001323032.3(SV2B):c.635T>C (p.Ile212Thr)	SV2B (I212T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410586	NM_001323032.3(SV2B):c.685C>T (p.Arg229Trp)	SV2B (R86W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228028	NM_001323032.3(SV2B):c.755C>T (p.Ala252Val)	SV2B (A109V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323711	NM_001323032.3(SV2B):c.779A>G (p.His260Arg)	SV2B (H260R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615403	NM_001323032.3(SV2B):c.814C>T (p.His272Tyr)	SV2B (H121Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172339	NM_001323032.3(SV2B):c.821A>G (p.His274Arg)	SV2B (H123R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172333	NM_001323032.3(SV2B):c.1067C>T (p.Thr356Ile)	SV2B (T205I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593313	NM_001323032.3(SV2B):c.1141T>A (p.Cys381Ser)	SV2B (C230S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408629	NM_001323032.3(SV2B):c.1144G>A (p.Val382Met)	SV2B (V271M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616022	NM_001323032.3(SV2B):c.1148T>C (p.Met383Thr)	SV2B (M272T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481236	NM_001323032.3(SV2B):c.1153C>A (p.Pro385Thr)	SV2B (P242T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172334	NM_001323032.3(SV2B):c.1190G>C (p.Trp397Ser)	SV2B (W246S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323715	NM_001323032.3(SV2B):c.1309G>A (p.Gly437Ser)	SV2B (G286S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323717	NM_001323032.3(SV2B):c.1312G>T (p.Ala438Ser)	SV2B (A295S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471014	NM_001323032.3(SV2B):c.1342A>G (p.Ile448Val)	SV2B (I297V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207058	NM_001323032.3(SV2B):c.1484A>C (p.Glu495Ala)	SV2B (E384A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323710	NM_001323032.3(SV2B):c.1598A>C (p.Asp533Ala)	SV2B (D390A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315348	NM_001323032.3(SV2B):c.1603G>A (p.Asp535Asn)	SV2B (D424N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365499	NM_001323032.3(SV2B):c.1742T>G (p.Phe581Cys)	SV2B (F438C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305473	NM_001323032.3(SV2B):c.1774A>G (p.Met592Val)	SV2B (M525V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412330	NM_001323032.3(SV2B):c.1780G>A (p.Gly594Ser)	SV2B (G443S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388118	NM_001323032.3(SV2B):c.1804A>T (p.Thr602Ser)	SV2B (T459S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288348	NM_001323032.3(SV2B):c.1870G>A (p.Ala624Thr)	SV2B (A481T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323712	NM_001323032.3(SV2B):c.1912G>A (p.Ala638Thr)	SV2B (A571T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 41