RS1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1235875	NM_000330.4(RS1):c.184+129T>G	RS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234213	NM_000330.4(RS1):c.184+35T>C	RS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1539457	NM_000330.4(RS1):c.184+16C>A	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572567	NM_000330.4(RS1):c.184+10C>T	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652868	NM_000330.4(RS1):c.184+9C>A	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 755144	NM_000330.4(RS1):c.184+9C>T	RS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1476643	NM_000330.4(RS1):c.184+6T>C	RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2678457	NM_000330.4(RS1):c.184+2T>C	RS1	Single nucleotide variant (splice donor variant)	Juvenile retinoschisis	GLikely pathogenic
Select item 449510	NM_000330.4(RS1):c.184+2T>G	RS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1705489	NM_000330.4(RS1):c.184+1G>A	RS1	Single nucleotide variant (splice donor variant)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 98909	NM_000330.4(RS1):c.184+1G>C	RS1	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1433834	NM_000330.4(RS1):c.178_181del (p.Ile60fs)	RS1 (I60fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1456120	NM_000330.4(RS1):c.179_180del (p.Ile60fs)	RS1 (I60fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1541778	NM_000330.4(RS1):c.177T>C (p.Cys59=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866404	NM_000330.4(RS1):c.176G>A (p.Cys59Tyr)	RS1 (C59Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 2159556	NM_000330.4(RS1):c.175T>G (p.Cys59Gly)	RS1 (C59G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 98908	NM_000330.4(RS1):c.175T>A (p.Cys59Ser)	RS1 (C59S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2905317	NM_000330.4(RS1):c.171G>A (p.Leu57=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 423184	NM_000330.4(RS1):c.170T>C (p.Leu57Ser)	RS1 (L57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059914	NM_000330.4(RS1):c.167C>T (p.Ser56Phe)	RS1 (S56F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030489	NM_000330.4(RS1):c.165C>T (p.Thr55=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 98906	NM_000330.4(RS1):c.160_163dup (p.Thr55fs)	RS1 (T55fs)	Duplication (frameshift variant)	Juvenile retinoschisis	GPathogenic
Select item 98907	NM_000330.4(RS1):c.163del (p.Thr55fs)	RS1 (T55fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1668895	NM_000330.4(RS1):c.159T>A (p.Gly53=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105892	NM_000330.4(RS1):c.156A>G (p.Ala52=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164535	NM_000330.4(RS1):c.150G>T (p.Trp50Cys)	RS1 (W50C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1048173	NM_000330.4(RS1):c.150G>A (p.Trp50Ter)	RS1 (W50*)	Single nucleotide variant (nonsense)	Juvenile retinoschisis	GLikely pathogenic
Select item 1419115	NM_000330.4(RS1):c.149G>A (p.Trp50Ter)	RS1 (W50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1570461	NM_000330.4(RS1):c.145C>T (p.Leu49=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866630	NM_000330.4(RS1):c.133G>T (p.Gly45Ter)	RS1 (G45*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 2896584	NM_000330.4(RS1):c.132A>G (p.Gly44=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102798	NM_000330.4(RS1):c.132A>C (p.Gly44=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1687568	NM_000330.4(RS1):c.131dup (p.Gly45fs)	RS1 (G45fs)	Duplication (frameshift variant)	Juvenile retinoschisis	GLikely pathogenic
Select item 3156568	NM_000330.4(RS1):c.125G>A (p.Cys42Tyr)	RS1 (C42Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1129210	NM_000330.4(RS1):c.121G>A (p.Asp41Asn)	RS1 (D41N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1518069	NM_000330.4(RS1):c.120C>G (p.Cys40Trp)	RS1 (C40W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1112904	NM_000330.4(RS1):c.120C>T (p.Cys40=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 98905	NM_000330.4(RS1):c.120C>A (p.Cys40Ter)	RS1 (C40*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 2819736	NM_000330.4(RS1):c.108A>G (p.Lys36=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109528	NM_000330.4(RS1):c.107A>T (p.Lys36Ile)	RS1 (K36I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805017	NM_000330.4(RS1):c.103C>T (p.Gln35Ter)	RS1 (Q35*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1705356	NM_000330.4(RS1):c.101dup (p.Tyr34Ter)	RS1 (Y34*)	Duplication (nonsense)	Juvenile retinoschisis	GLikely pathogenic
Select item 1380589	NM_000330.4(RS1):c.98G>A (p.Trp33Ter)	RS1 (W33*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2138482	NM_000330.4(RS1):c.97del (p.Trp33fs)	RS1 (W33fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2095279	NM_000330.4(RS1):c.97T>C (p.Trp33Arg)	RS1 (W33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059791	NM_000330.4(RS1):c.93C>A (p.Asp31Glu)	RS1 (D31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466963	NM_000330.4(RS1):c.91G>T (p.Asp31Tyr)	RS1 (D31Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1560980	NM_000330.4(RS1):c.90G>A (p.Glu30=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722780	NM_000330.4(RS1):c.88G>A (p.Glu30Lys)	RS1 (E30K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 836026	NM_000330.4(RS1):c.87C>T (p.Gly29=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095068	NM_000330.4(RS1):c.79-1G>A	RS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 99023	NM_000330.4(RS1):c.79-2A>G	RS1	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 2842378	NM_000330.4(RS1):c.79-7G>A	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820417	NM_000330.4(RS1):c.79-18C>A	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1096889	NM_000330.4(RS1):c.79-18C>G	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1048161	NM_000330.4(RS1):c.53-713_78+266del	RS1	Deletion (splice acceptor variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 2966159	NM_000330.4(RS1):c.78+11G>A	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1673860	NM_000330.4(RS1):c.78+6T>A	RS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2115386	NM_000330.4(RS1):c.78+5G>C	RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1723073	NM_000330.4(RS1):c.78+2T>C	RS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 99022	NM_000330.4(RS1):c.78+1G>A	RS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 98985	NM_000330.4(RS1):c.53_77del (p.Ala18fs)	RS1 (A18fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 741219	NM_000330.4(RS1):c.76G>A (p.Glu26Lys)	RS1 (E26K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 99021	NM_000330.4(RS1):c.76G>T (p.Glu26Ter)	RS1 (E26*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 1140967	NM_000330.4(RS1):c.75C>T (p.Thr25=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112217	NM_000330.4(RS1):c.69_72del (p.Ser24fs)	RS1 (S24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1671968	NM_000330.4(RS1):c.69G>A (p.Ser23=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 99020	NM_000330.4(RS1):c.68C>A (p.Ser23Ter)	RS1 (S23*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 2709070	NM_000330.4(RS1):c.65T>G (p.Leu22Ter)	RS1 (L22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1726095	NM_000330.4(RS1):c.60_64del (p.Leu20fs)	RS1 (L20fs)	Deletion (frameshift variant)	Juvenile retinoschisis	GLikely pathogenic
Select item 1063524	NM_000330.4(RS1):c.61G>C (p.Gly21Arg)	RS1 (G21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397154	NM_000330.4(RS1):c.56C>T (p.Thr19Ile)	RS1 (T19I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543226	NM_000330.4(RS1):c.54C>A (p.Ala18=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997459	NM_000330.4(RS1):c.53-1G>C	RS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 866919	NM_000330.4(RS1):c.53-1G>A	RS1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1544558	NM_000330.4(RS1):c.53-6C>T	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765788	NM_000330.4(RS1):c.53-8T>A	RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1935726	NM_000330.4(RS1):c.53-9T>C	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1159726	NM_000330.4(RS1):c.53-12C>A	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014742	NM_000330.4(RS1):c.53-13C>T	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864545	NM_000330.4(RS1):c.53-18C>T	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021276	NM_000330.4(RS1):c.52+19T>C	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021833	NM_000330.4(RS1):c.52+18A>G	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982444	NM_000330.4(RS1):c.52+6T>A	RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2198689	NM_000330.4(RS1):c.52+5G>A	RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 98978	NM_000330.4(RS1):c.52+5G>C	RS1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 1301833	NM_000330.4(RS1):c.52+3A>G	RS1	Single nucleotide variant (intron variant)	Juvenile retinoschisis +1 more	GLikely pathogenic
Select item 98976	NM_000330.4(RS1):c.52+2dup	RS1	Duplication (splice donor variant)	not provided	Gnot provided
Select item 98977	NM_000330.4(RS1):c.52+2T>C	RS1	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 98975	NM_000330.4(RS1):c.52+1G>T	RS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 98974	NM_000330.4(RS1):c.52+1G>A	RS1	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1156752	NM_000330.4(RS1):c.48T>C (p.Tyr16=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103418	NM_000330.4(RS1):c.46T>C (p.Tyr16His)	RS1 (Y16H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694473	NM_000330.4(RS1):c.41T>C (p.Phe14Ser)	RS1 (F14S)	Single nucleotide variant (missense variant)	Juvenile retinoschisis	GUncertain significance
Select item 1546618	NM_000330.4(RS1):c.39C>G (p.Leu13=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 9892	NM_000330.4(RS1):c.38T>C (p.Leu13Pro)	RS1 (L13P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2785684	NM_000330.4(RS1):c.37C>G (p.Leu13Val)	RS1 (L13V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1421996	NM_000330.4(RS1):c.37C>T (p.Leu13Phe)	RS1 (L13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647342	NM_000330.4(RS1):c.36T>A (p.Leu12=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 98944	NM_000330.4(RS1):c.33_36del (p.Leu11fs)	RS1 (L11fs)	Deletion (frameshift variant)	not provided	GPathogenic

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