"Ambry Genetics"[submitter] AND "ZSWIM8"[gene] - ClinVar

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199610	NM_001367799.1(ZSWIM8):c.502C>T (p.Pro168Ser)	LOC126860957, ZSWIM8 (P168S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481466	NM_001367799.1(ZSWIM8):c.803C>T (p.Thr268Ile)	ZSWIM8 (T268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525365	NM_001367799.1(ZSWIM8):c.1025G>A (p.Arg342His)	ZSWIM8 (R342H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199583	NM_001367799.1(ZSWIM8):c.1142A>G (p.Gln381Arg)	ZSWIM8 (Q381R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199584	NM_001367799.1(ZSWIM8):c.1325G>A (p.Arg442Gln)	ZSWIM8 (R442Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550981	NM_001367799.1(ZSWIM8):c.1340A>G (p.Gln447Arg)	ZSWIM8 (Q447R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275028	NM_001367799.1(ZSWIM8):c.1375G>A (p.Val459Ile)	ZSWIM8 (V459I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199585	NM_001367799.1(ZSWIM8):c.1397A>C (p.Lys466Thr)	ZSWIM8 (K466T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517138	NM_001367799.1(ZSWIM8):c.1400C>T (p.Thr467Met)	ZSWIM8 (T467M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199586	NM_001367799.1(ZSWIM8):c.1426C>T (p.Arg476Trp)	ZSWIM8 (R476W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362142	NM_001367799.1(ZSWIM8):c.1477C>T (p.Pro493Ser)	ZSWIM8 (P493S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271498	NM_001367799.1(ZSWIM8):c.1496G>T (p.Gly499Val)	ZSWIM8 (G499V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199587	NM_001367799.1(ZSWIM8):c.1499C>T (p.Thr500Ile)	ZSWIM8 (T500I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199588	NM_001367799.1(ZSWIM8):c.1510C>G (p.Leu504Val)	ZSWIM8 (L504V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547713	NM_001367799.1(ZSWIM8):c.1517T>C (p.Leu506Pro)	ZSWIM8 (L506P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199589	NM_001367799.1(ZSWIM8):c.1528C>T (p.Arg510Trp)	ZSWIM8 (R510W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199591	NM_001367799.1(ZSWIM8):c.1529G>A (p.Arg510Gln)	ZSWIM8 (R510Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199592	NM_001367799.1(ZSWIM8):c.1559G>A (p.Arg520His)	ZSWIM8 (R520H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588488	NM_001367799.1(ZSWIM8):c.1579T>C (p.Ser527Pro)	ZSWIM8 (S527P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261497	NM_001367799.1(ZSWIM8):c.1582C>T (p.Arg528Trp)	ZSWIM8 (R528W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365369	NM_001367799.1(ZSWIM8):c.1595G>A (p.Arg532Gln)	ZSWIM8 (R532Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291617	NM_001367799.1(ZSWIM8):c.1711G>A (p.Gly571Arg)	ZSWIM8 (G571R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234029	NM_001367799.1(ZSWIM8):c.1763T>G (p.Leu588Arg)	ZSWIM8 (L588R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623265	NM_001367799.1(ZSWIM8):c.1772C>T (p.Ala591Val)	ZSWIM8 (A591V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199593	NM_001367799.1(ZSWIM8):c.1876A>G (p.Ser626Gly)	ZSWIM8 (S626G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397121	NM_001367799.1(ZSWIM8):c.1954G>A (p.Gly652Ser)	ZSWIM8 (G652S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507904	NM_001367799.1(ZSWIM8):c.2065C>G (p.Pro689Ala)	ZSWIM8 (P689A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262825	NM_001367799.1(ZSWIM8):c.2108C>T (p.Pro703Leu)	ZSWIM8 (P703L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361215	NM_001367799.1(ZSWIM8):c.2129A>G (p.Asn710Ser)	ZSWIM8 (N710S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2253519	NM_001367799.1(ZSWIM8):c.2134C>T (p.Leu712Phe)	ZSWIM8 (L712F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361610	NM_001367799.1(ZSWIM8):c.2152G>A (p.Ala718Thr)	ZSWIM8 (A718T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237477	NM_001367799.1(ZSWIM8):c.2183A>G (p.Asp728Gly)	ZSWIM8 (D728G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199595	NM_001367799.1(ZSWIM8):c.2191G>A (p.Ala731Thr)	ZSWIM8 (A731T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545340	NM_001367799.1(ZSWIM8):c.2204A>C (p.Asn735Thr)	ZSWIM8 (N735T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349465	NM_001367799.1(ZSWIM8):c.2221G>A (p.Gly741Arg)	ZSWIM8 (G741R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323963	NM_001367799.1(ZSWIM8):c.2345C>T (p.Ala782Val)	ZSWIM8 (A782V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199597	NM_001367799.1(ZSWIM8):c.2353T>C (p.Tyr785His)	ZSWIM8 (Y785H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557416	NM_001367799.1(ZSWIM8):c.2510C>T (p.Ala837Val)	ZSWIM8 (A837V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199598	NM_001367799.1(ZSWIM8):c.2540G>C (p.Arg847Pro)	ZSWIM8 (R847P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199599	NM_001367799.1(ZSWIM8):c.3020C>G (p.Ala1007Gly)	ZSWIM8 (A1002G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336980	NM_001367799.1(ZSWIM8):c.3058G>A (p.Glu1020Lys)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (E1020K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2458301	NM_001367799.1(ZSWIM8):c.3109C>T (p.Arg1037Cys)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (R1032C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2606769	NM_001367799.1(ZSWIM8):c.3316G>T (p.Ala1106Ser)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (A1106S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2346234	NM_001367799.1(ZSWIM8):c.3371G>A (p.Ser1124Asn)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (S1119N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2369410	NM_001367799.1(ZSWIM8):c.3382T>C (p.Tyr1128His)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (Y1123H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528763	NM_001367799.1(ZSWIM8):c.3412C>T (p.Arg1138Trp)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (R1133W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267095	NM_001367799.1(ZSWIM8):c.3520G>A (p.Ala1174Thr)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (A1174T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3199600	NM_001367799.1(ZSWIM8):c.3535G>A (p.Gly1179Ser)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (G1179S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2213725	NM_001367799.1(ZSWIM8):c.3637C>T (p.Arg1213Trp)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (R1208W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2552556	NM_001367799.1(ZSWIM8):c.4064G>A (p.Arg1355Lys)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (R1355K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2361386	NM_001367799.1(ZSWIM8):c.4169A>G (p.Lys1390Arg)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (K1385R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199601	NM_001367799.1(ZSWIM8):c.4192G>A (p.Glu1398Lys)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (E1398K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223645	NM_001367799.1(ZSWIM8):c.4204A>G (p.Met1402Val)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (M1402V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199602	NM_001367799.1(ZSWIM8):c.4375C>T (p.Arg1459Trp)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (R1459W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2533517	NM_001367799.1(ZSWIM8):c.4376G>A (p.Arg1459Gln)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (R1454Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3199603	NM_001367799.1(ZSWIM8):c.4382T>C (p.Met1461Thr)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (M1461T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3199604	NM_001367799.1(ZSWIM8):c.4391G>A (p.Gly1464Asp)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (G1459D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2545386	NM_001367799.1(ZSWIM8):c.4420A>G (p.Thr1474Ala)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (T1469A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3199605	NM_001367799.1(ZSWIM8):c.4465G>A (p.Val1489Ile)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (V1484I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2617329	NM_001367799.1(ZSWIM8):c.4561C>T (p.Pro1521Ser)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (P1516S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3199606	NM_001367799.1(ZSWIM8):c.4620G>A (p.Met1540Ile)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (M1540I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3199607	NM_001367799.1(ZSWIM8):c.4709T>G (p.Val1570Gly)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (V1565G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3199608	NM_001367799.1(ZSWIM8):c.4714C>A (p.Pro1572Thr)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (P1572T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2612407	NM_001367799.1(ZSWIM8):c.4801C>T (p.Leu1601Phe)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (L1601F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2617963	NM_001367799.1(ZSWIM8):c.4871C>T (p.Ala1624Val)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (A1619V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2375580	NM_001367799.1(ZSWIM8):c.4928C>T (p.Pro1643Leu)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (P1638L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199611	NM_001367799.1(ZSWIM8):c.5066G>A (p.Arg1689His)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (R1689H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2488289	NM_001367799.1(ZSWIM8):c.5075C>T (p.Pro1692Leu)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (P1687L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2492872	NM_001367799.1(ZSWIM8):c.5196C>T (p.Ile1732=)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (R1705C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2569596	NM_001367799.1(ZSWIM8):c.5223T>C (p.Ser1741=)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (S1714P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2242126	NM_001367799.1(ZSWIM8):c.5227G>A (p.Ala1743Thr)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (A1743T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529070	NM_001367799.1(ZSWIM8):c.5336C>G (p.Ala1779Gly)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (A1787G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2376759	NM_001367799.1(ZSWIM8):c.5379C>T (p.Ser1793=)	NDST2-ZSWIM8-AS1, ZSWIM8 +1 more (R1766C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2252289	NM_001367799.1(ZSWIM8):c.5400G>A (p.Met1800Ile)	NDST2-ZSWIM8-AS1, ZSWIM8 (M1800I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290416	NM_001367799.1(ZSWIM8):c.5407A>G (p.Met1803Val)	NDST2-ZSWIM8-AS1, ZSWIM8 (M1803V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464550	NM_001367799.1(ZSWIM8):c.5485A>C (p.Met1829Leu)	NDST2-ZSWIM8-AS1, ZSWIM8 (M1829L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2219594	NM_001367799.1(ZSWIM8):c.*214G>A	NDST2-ZSWIM8-AS1, ZSWIM8 (R1879H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3199612	NM_001367799.1(ZSWIM8):c.*250A>G	NDST2-ZSWIM8-AS1, ZSWIM8 (N1891S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance

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Items: 78