C4551693[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1386448	NM_006005.3(WFS1):c.19C>T (p.Pro7Ser)	WFS1 (P7S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 195256	NM_006005.3(WFS1):c.20C>T (p.Pro7Leu)	WFS1 (P7L)	Single nucleotide variant (missense variant)	Monogenic diabetes +6 more	GUncertain significance
Select item 1650580	NM_006005.3(WFS1):c.33C>A (p.Ser11=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GLikely benign
Select item 215372	NM_006005.3(WFS1):c.56C>T (p.Pro19Leu)	WFS1 (P19L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1189603	NM_006005.3(WFS1):c.71G>A (p.Arg24His)	WFS1 (R24H)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GUncertain significance
Select item 1179030	NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)	WFS1 (R26*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1 +4 more	GPathogenic
Select item 1316064	NM_006005.3(WFS1):c.77G>A (p.Arg26Gln)	WFS1 (R26Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 906236	NM_006005.3(WFS1):c.81C>T (p.Leu27=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +5 more	GUncertain significance
Select item 179238	NM_006005.3(WFS1):c.95C>T (p.Ser32Leu)	WFS1 (S32L)	Single nucleotide variant (missense variant)	Cataract 41 +7 more	GUncertain significance/Uncertain risk allele
Select item 1395737	NM_006005.3(WFS1):c.113G>A (p.Ser38Asn)	WFS1 (S38N)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 189251	NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	WFS1 (R42*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 6 +7 more	GPathogenic/Likely pathogenic
Select item 1418122	NM_006005.3(WFS1):c.154C>T (p.Pro52Ser)	WFS1 (P52S)	Single nucleotide variant (missense variant)	Cataract 41 +6 more	GUncertain significance
Select item 252656	NM_006005.3(WFS1):c.169G>A (p.Ala57Thr)	WFS1 (A57T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 393384	NM_006005.3(WFS1):c.172G>A (p.Ala58Thr)	WFS1 (A58T)	Single nucleotide variant (missense variant)	Monogenic diabetes +5 more	GConflicting classifications of pathogenicity
Select item 1318052	NM_006005.3(WFS1):c.226G>A (p.Gly76Ser)	WFS1 (G76S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1395184	NM_006005.3(WFS1):c.304G>A (p.Ala102Thr)	WFS1 (A102T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1647181	NM_006005.3(WFS1):c.315+17C>T	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +5 more	GLikely benign
Select item 1610681	NM_006005.3(WFS1):c.315+18G>A	WFS1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 385813	NM_006005.3(WFS1):c.316-14T>C	WFS1	Single nucleotide variant (intron variant)	not provided +6 more	GLikely benign
Select item 392143	NM_006005.3(WFS1):c.342C>T (p.Ala114=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 1284287	NM_006005.3(WFS1):c.343G>A (p.Gly115Ser)	WFS1 (G115S)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
Select item 1264331	NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)	WFS1 (W129*)	Single nucleotide variant (nonsense)	Cataract 41 +4 more	GPathogenic/Likely pathogenic
Select item 1207388	NM_006005.3(WFS1):c.393C>T (p.Val131=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1356974	NM_006005.3(WFS1):c.395T>G (p.Leu132Arg)	WFS1 (L132R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 215410	NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)	WFS1 (A134T)	Single nucleotide variant (missense variant)	Monogenic diabetes +8 more	GUncertain significance
Select item 1027526	NM_006005.3(WFS1):c.401C>T (p.Ala134Val)	WFS1 (A134V)	Single nucleotide variant (missense variant)	Spastic ataxia +5 more	GUncertain significance
Select item 1659723	NM_006005.3(WFS1):c.444C>T (p.Cys148=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +5 more	GLikely benign
Select item 517585	NM_006005.3(WFS1):c.477C>T (p.Asn159=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 137911	NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)	WFS1 (R161Q)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +7 more	GBenign/Likely benign
Select item 1245208	NM_006005.3(WFS1):c.510C>T (p.Thr170=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +5 more	GLikely benign
Select item 1205209	NM_006005.3(WFS1):c.514C>T (p.Leu172=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1327312	NM_006005.3(WFS1):c.527T>C (p.Val176Ala)	WFS1 (V176A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 229647	NM_006005.3(WFS1):c.535G>A (p.Ala179Thr)	WFS1 (A179T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GUncertain significance/Uncertain risk allele
Select item 178654	NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)	WFS1 (K193Q)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 1347849	NM_006005.3(WFS1):c.593C>T (p.Ala198Val)	WFS1 (A198V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 1382171	NM_006005.3(WFS1):c.613G>A (p.Gly205Ser)	WFS1 (G205S)	Single nucleotide variant (missense variant)	Cataract 41 +6 more	GUncertain significance
Select item 1316456	NM_006005.3(WFS1):c.623A>G (p.Asn208Ser)	WFS1 (N208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 215379	NM_006005.3(WFS1):c.631+5G>A	WFS1	Single nucleotide variant (intron variant)	not provided +5 more	GUncertain significance
Select item 1374770	NM_006005.3(WFS1):c.638G>A (p.Gly213Glu)	WFS1 (G213E)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GUncertain significance
Select item 1496004	NM_006005.3(WFS1):c.641C>T (p.Ala214Val)	WFS1 (A214V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GUncertain significance
Select item 511198	NM_006005.3(WFS1):c.642G>A (p.Ala214=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +6 more	GBenign/Likely benign
Select item 1411691	NM_006005.3(WFS1):c.656T>C (p.Val219Ala)	WFS1 (V219A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 198190	NM_006005.3(WFS1):c.683G>A (p.Arg228His)	WFS1 (R228H)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1439615	NM_006005.3(WFS1):c.686T>C (p.Met229Thr)	WFS1 (M229T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 698147	NM_006005.3(WFS1):c.712+8C>T	WFS1	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 1559514	NM_006005.3(WFS1):c.712+19C>T	WFS1	Single nucleotide variant (intron variant)	Cataract 41 +5 more	GLikely benign
Select item 1662238	NM_006005.3(WFS1):c.713-19G>A	WFS1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 166574	NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)	WFS1 (K239R)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance/Uncertain risk allele
Select item 809616	NM_006005.3(WFS1):c.727G>A (p.Ala243Thr)	WFS1 (A243T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance/Uncertain risk allele
Select item 215381	NM_006005.3(WFS1):c.728C>T (p.Ala243Val)	WFS1 (A243V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +9 more	GConflicting classifications of pathogenicity
Select item 738569	NM_006005.3(WFS1):c.747G>A (p.Glu249=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 178586	NM_006005.3(WFS1):c.762C>T (p.Tyr254=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +6 more	GBenign/Likely benign
Select item 706590	NM_006005.3(WFS1):c.801C>T (p.Asp267=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +5 more	GBenign/Likely benign
Select item 505256	NM_006005.3(WFS1):c.816C>T (p.Asp272=)	WFS1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 918066	NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)	WFS1 (E273*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 215382	NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)	WFS1 (E273K)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 1393805	NM_006005.3(WFS1):c.824C>G (p.Ala275Gly)	WFS1 (A275G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 180000	NM_006005.3(WFS1):c.825G>A (p.Ala275=)	WFS1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 178587	NM_006005.3(WFS1):c.854G>A (p.Arg285His)	WFS1 (R285H)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 1571695	NM_006005.3(WFS1):c.862-19C>T	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +5 more	GLikely benign
Select item 1571118	NM_006005.3(WFS1):c.862-18G>A	WFS1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1186868	NM_006005.3(WFS1):c.862-3C>G	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +5 more	GUncertain significance
Select item 191322	NM_006005.3(WFS1):c.862G>A (p.Val288Met)	WFS1 (V288M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GConflicting classifications of pathogenicity
Select item 1298953	NM_006005.3(WFS1):c.876C>G (p.Pro292=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1139350	NM_006005.3(WFS1):c.882C>T (p.His294=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 506178	NM_006005.3(WFS1):c.889A>G (p.Met297Val)	WFS1 (M297V)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +6 more	GUncertain significance
Select item 45462	NM_006005.3(WFS1):c.930A>G (p.Ala310=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +7 more	GBenign
Select item 1316546	NM_006005.3(WFS1):c.979C>T (p.Leu327Phe)	WFS1 (L327F)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 549511	NM_006005.3(WFS1):c.979C>A (p.Leu327Ile)	WFS1 (L327I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 229648	NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)	WFS1 (F331I)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 290798	NM_006005.3(WFS1):c.994A>T (p.Ile332Phe)	WFS1 (I332F)	Single nucleotide variant (missense variant)	Wolfram-like syndrome +5 more	GUncertain significance/Uncertain risk allele
Select item 45463	NM_006005.3(WFS1):c.997G>A (p.Val333Ile)	WFS1 (V333I)	Single nucleotide variant (missense variant)	Cataract 41 +7 more	GBenign/Likely benign
Select item 1573447	NM_006005.3(WFS1):c.1008C>G (p.Leu336=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +5 more	GLikely benign
Select item 1567533	NM_006005.3(WFS1):c.1026C>T (p.Ala342=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +5 more	GLikely benign
Select item 994102	NM_006005.3(WFS1):c.1038G>A (p.Pro346=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 229635	NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys)	WFS1 (Y351C)	Single nucleotide variant (missense variant)	Monogenic diabetes +7 more	GUncertain significance
Select item 1318136	NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn)	WFS1 (I359N)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 374398	NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)	WFS1 (C360Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 1012716	NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)	WFS1 (Q366*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1315666	NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly)	WFS1 (D367G)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 215384	NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys)	WFS1 (R375C)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +7 more	GUncertain significance
Select item 504709	NM_006005.3(WFS1):c.1124G>A (p.Arg375His)	WFS1 (R375H)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 289307	NM_006005.3(WFS1):c.1143G>A (p.Leu381=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 904089	NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys)	WFS1 (R383C)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +6 more	GUncertain significance
Select item 1168671	NM_006005.3(WFS1):c.1148G>A (p.Arg383His)	WFS1 (R383H)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GBenign/Likely benign
Select item 215385	NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)	WFS1 (D389E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 1584514	NM_006005.3(WFS1):c.1179C>T (p.Ala393=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +5 more	GLikely benign
Select item 904869	NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys)	WFS1 (E394K)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +6 more	GUncertain significance
Select item 215386	NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly)	WFS1 (W399G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 517504	NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala)	WFS1 (P404A)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GUncertain significance/Uncertain risk allele
Select item 1378120	NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu)	WFS1 (P404L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1698065	NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr)	WFS1 (A406T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 166583	NM_006005.3(WFS1):c.1219C>T (p.His407Tyr)	WFS1 (H407Y)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 1519577	NM_006005.3(WFS1):c.1220A>G (p.His407Arg)	WFS1 (H407R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 429753	NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)	WFS1 (V412fs)	Microsatellite (frameshift variant)	Wolfram syndrome 1 +8 more	GPathogenic
Select item 1458000	NM_006005.3(WFS1):c.1234_1237del (p.Val412fs)	WFS1 (V412fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GPathogenic
Select item 724524	NM_006005.3(WFS1):c.1233T>G (p.Ser411=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +5 more	GBenign/Likely benign
Select item 215406	NM_006005.3(WFS1):c.1243_1245del (p.Val415del)	WFS1 (V415del)	Deletion (inframe_deletion)	not provided +7 more	GPathogenic
Select item 1391792	NM_006005.3(WFS1):c.1243G>A (p.Val415Ile)	WFS1 (V415I)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
Select item 1370377	NM_006005.3(WFS1):c.1243G>C (p.Val415Leu)	WFS1 (V415L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GUncertain significance

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