STN1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2640811	NM_024928.5(STN1):c.1107A>G (p.Ter369Trp)	STN1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2791757	NM_024928.5(STN1):c.1106G>A (p.Ter369=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1568388	NM_024928.5(STN1):c.1101G>A (p.Ala367=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028354	NM_024928.5(STN1):c.1100C>T (p.Ala367Val)	STN1 (A367V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1486039	NM_024928.5(STN1):c.1096A>G (p.Thr366Ala)	STN1 (T366A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420888	NM_024928.5(STN1):c.1081A>G (p.Met361Val)	STN1 (M361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645897	NM_024928.5(STN1):c.1062G>A (p.Gln354=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1580104	NM_024928.5(STN1):c.1056G>A (p.Glu352=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416500	NM_024928.5(STN1):c.1055A>G (p.Glu352Gly)	STN1 (E352G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128707	NM_024928.5(STN1):c.1051C>T (p.Leu351=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011901	NM_024928.5(STN1):c.1025C>T (p.Ala342Val)	STN1 (A342V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473765	NM_024928.5(STN1):c.1021G>A (p.Glu341Lys)	STN1 (E341K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169893	NM_024928.5(STN1):c.1020C>T (p.Ser340=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1975887	NM_024928.5(STN1):c.1015C>T (p.Leu339=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721378	NM_024928.5(STN1):c.1011G>A (p.Pro337=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998091	NM_024928.5(STN1):c.1010C>G (p.Pro337Arg)	STN1 (P337R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964054	NM_024928.5(STN1):c.1010C>T (p.Pro337Leu)	STN1 (P337L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1143264	NM_024928.5(STN1):c.1007G>A (p.Arg336His)	STN1 (R336H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1468946	NM_024928.5(STN1):c.1006C>T (p.Arg336Cys)	STN1 (R336C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1112095	NM_024928.5(STN1):c.1005C>T (p.Ile335=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474809	NM_024928.5(STN1):c.994C>T (p.Arg332Cys)	STN1 (R332C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1016588	NM_024928.5(STN1):c.991G>T (p.Ala331Ser)	STN1 (A331S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675014	NM_024928.5(STN1):c.987C>G (p.Ala329=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624851	NM_024928.5(STN1):c.987C>T (p.Ala329=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068368	NM_024928.5(STN1):c.980T>C (p.Ile327Thr)	STN1 (I327T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488703	NM_024928.5(STN1):c.977A>C (p.His326Pro)	STN1 (H326P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1505650	NM_024928.5(STN1):c.976C>T (p.His326Tyr)	STN1 (H326Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171472	NM_024928.5(STN1):c.970T>A (p.Phe324Ile)	STN1 (F324I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2000814	NM_024928.5(STN1):c.965G>A (p.Cys322Tyr)	STN1 (C322Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044121	NM_024928.5(STN1):c.963C>T (p.Gly321=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646434	NM_024928.5(STN1):c.963C>A (p.Gly321=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545301	NM_024928.5(STN1):c.960G>A (p.Lys320=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487653	NM_024928.5(STN1):c.952A>G (p.Met318Val)	STN1 (M318V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775971	NM_024928.5(STN1):c.950-14C>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630723	NM_024928.5(STN1):c.950-15A>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540017	NM_024928.5(STN1):c.949+17A>G	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966274	NM_024928.5(STN1):c.949+14T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794165	NM_024928.5(STN1):c.949+8G>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1350411	NM_024928.5(STN1):c.949+1G>A	STN1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3171471	NM_024928.5(STN1):c.947A>G (p.Asn316Ser)	STN1 (N316S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171470	NM_024928.5(STN1):c.922A>C (p.Ile308Leu)	STN1 (I308L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1484932	NM_024928.5(STN1):c.917G>A (p.Arg306Gln)	STN1 (R306Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520730	NM_024928.5(STN1):c.916C>T (p.Arg306Trp)	STN1 (R306W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1559118	NM_024928.5(STN1):c.915C>T (p.His305=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1489440	NM_024928.5(STN1):c.902A>G (p.His301Arg)	STN1 (H301R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157103	NM_024928.5(STN1):c.897C>A (p.Asp299Glu)	STN1 (D299E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346494	NM_024928.5(STN1):c.894dup (p.Asp299fs)	STN1 (D299fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1466959	NM_024928.5(STN1):c.883A>G (p.Arg295Gly)	STN1 (R295G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940083	NM_024928.5(STN1):c.877-6A>G	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629307	NM_024928.5(STN1):c.877-13T>G	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532074	NM_024928.5(STN1):c.877-16T>A	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170481	NM_024928.5(STN1):c.877-20C>T	STN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1648356	NM_024928.5(STN1):c.876+19_876+24del	STN1	Deletion (intron variant)	not provided	GLikely benign
Select item 2088835	NM_024928.5(STN1):c.876+17T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015763	NM_024928.5(STN1):c.876+6A>G	STN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1377429	NM_024928.5(STN1):c.876+6A>T	STN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1468310	NM_024928.5(STN1):c.871T>C (p.Tyr291His)	STN1 (Y291H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366966	NM_024928.5(STN1):c.851A>G (p.Asp284Gly)	STN1 (D284G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814145	NM_024928.5(STN1):c.849A>G (p.Lys283=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929059	NM_024928.5(STN1):c.849A>T (p.Lys283Asn)	STN1 (K283N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433845	NM_024928.5(STN1):c.847A>G (p.Lys283Glu)	STN1 (K283E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1437633	NM_024928.5(STN1):c.845A>G (p.Gln282Arg)	STN1 (Q282R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384854	NM_024928.5(STN1):c.834A>T (p.Gly278=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348692	NM_024928.5(STN1):c.824A>G (p.Gln275Arg)	STN1 (Q275R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2183317	NM_024928.5(STN1):c.817C>T (p.Leu273=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697180	NM_024928.5(STN1):c.811dup (p.Ile271fs)	STN1 (I271fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1139969	NM_024928.5(STN1):c.809C>T (p.Ala270Val)	STN1 (A270V)	Single nucleotide variant (missense variant)	STN1-related disorder +1 more	GLikely benign
Select item 1480820	NM_024928.5(STN1):c.794G>A (p.Ser265Asn)	STN1 (S265N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728880	NM_024928.5(STN1):c.793A>C (p.Ser265Arg)	STN1 (S265R)	Single nucleotide variant (missense variant)	STN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1515331	NM_024928.5(STN1):c.791A>G (p.His264Arg)	STN1 (H264R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875203	NM_024928.5(STN1):c.787A>G (p.Ile263Val)	STN1 (I263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464421	NM_024928.5(STN1):c.785C>A (p.Ala262Glu)	STN1 (A262E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1913153	NM_024928.5(STN1):c.784G>A (p.Ala262Thr)	STN1 (A262T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1978880	NM_024928.5(STN1):c.781A>G (p.Lys261Glu)	STN1 (K261E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171468	NM_024928.5(STN1):c.754G>A (p.Val252Met)	STN1 (V252M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2975254	NM_024928.5(STN1):c.754-4A>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898463	NM_024928.5(STN1):c.754-5T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103473	NM_024928.5(STN1):c.754-7T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920211	NM_024928.5(STN1):c.754-10C>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658897	NM_024928.5(STN1):c.754-11T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908133	NM_024928.5(STN1):c.753+19T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937771	NM_024928.5(STN1):c.753+18A>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912329	NM_024928.5(STN1):c.753+13T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100583	NM_024928.5(STN1):c.753+9A>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835537	NM_024928.5(STN1):c.753+8C>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865605	NM_024928.5(STN1):c.753+7G>A	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169155	NM_024928.5(STN1):c.743C>G (p.Ser248Cys)	STN1 (S248C)	Single nucleotide variant (missense variant)	Cerebroretinal microangiopathy with calcifications and cysts 2 +1 more	GBenign
Select item 1402698	NM_024928.5(STN1):c.736A>G (p.Ser246Gly)	STN1 (S246G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979102	NM_024928.5(STN1):c.719A>G (p.Asn240Ser)	STN1 (N240S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169393	NM_024928.5(STN1):c.718A>G (p.Asn240Asp)	STN1 (N240D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958183	NM_024928.5(STN1):c.707_716del (p.Leu236fs)	STN1 (L236fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3171467	NM_024928.5(STN1):c.712C>T (p.Leu238Phe)	STN1 (L238F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905301	NM_024928.5(STN1):c.712C>G (p.Leu238Val)	STN1 (L238V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169156	NM_024928.5(STN1):c.696G>C (p.Val232=)	STN1	Single nucleotide variant (synonymous variant)	Cerebroretinal microangiopathy with calcifications and cysts 2 +1 more	GBenign
Select item 1363148	NM_024928.5(STN1):c.692T>C (p.Met231Thr)	STN1 (M231T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351719	NM_024928.5(STN1):c.691A>C (p.Met231Leu)	STN1 (M231L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1145109	NM_024928.5(STN1):c.687G>A (p.Leu229=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2467182	NM_024928.5(STN1):c.685C>G (p.Leu229Val)	STN1 (L229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1972044	NM_024928.5(STN1):c.685C>A (p.Leu229Met)	STN1 (L229M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960496	NM_024928.5(STN1):c.663G>T (p.Val221=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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