ZSWIM8-AS1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
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 2640590	NM_001367799.1(ZSWIM8):c.3975C>T (p.Ser1325=)	ZSWIM8-AS1, NDST2-ZSWIM8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2626968	NM_001367799.1(ZSWIM8):c.4620_4665+54del	ZSWIM8, ZSWIM8-AS1 +1 more	Deletion (non-coding transcript variant +1 more)	not provided	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

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Items: 40