WFS1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684340	NM_006005.3(WFS1):c.-331G>T	WFS1	Single nucleotide variant	not provided	GBenign
Select item 678993	NM_006005.3(WFS1):c.-264A>G	WFS1	Single nucleotide variant	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 1802671	NM_006005.3(WFS1):c.-55C>T	WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 349301	NM_006005.3(WFS1):c.-55C>G	WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +1 more	GUncertain significance
Select item 903824	NM_006005.3(WFS1):c.-43G>C	WFS1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 382132	NM_006005.3(WFS1):c.-27C>T	WFS1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 137921	NM_006005.3(WFS1):c.-6+11C>T	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +3 more	GBenign/Likely benign
Select item 1234881	NM_006005.3(WFS1):c.-6+14C>A	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233567	NM_006005.3(WFS1):c.-6+32_-6+49dup	WFS1	Duplication (intron variant)	not provided	GBenign
Select item 1292283	NM_006005.3(WFS1):c.-6+85T>C	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233658	NM_006005.3(WFS1):c.-6+229G>C	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2438606	NM_006005.3(WFS1):c.-6+1824G>C	WFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2438604	NM_006005.3(WFS1):c.-5-1409G>T	WFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1284202	NM_006005.3(WFS1):c.-5-255G>C	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263828	NM_006005.3(WFS1):c.-5-205G>C	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200561	NM_006005.3(WFS1):c.-5-134T>C	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257985	NM_006005.3(WFS1):c.-5-131C>T	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 505403	NM_006005.3(WFS1):c.-4C>T	WFS1	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1707072	NM_006005.3(WFS1):c.-2_-1inv	WFS1	Inversion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1075961	NM_006005.3(WFS1):c.9dup (p.Asn4fs)	WFS1 (N4fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 130752	NM_006005.3(WFS1):c.9C>T (p.Ser3=)	WFS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 2044055	NM_006005.3(WFS1):c.13dup (p.Thr5fs)	WFS1 (T5fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2896241	NM_006005.3(WFS1):c.21G>A (p.Pro7=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 45449	NM_006005.3(WFS1):c.21G>T (p.Pro7=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +4 more	GBenign/Likely benign
Select item 349302	NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)	WFS1 (P10S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GConflicting classifications of pathogenicity
Select item 2987421	NM_006005.3(WFS1):c.29C>T (p.Pro10Leu)	WFS1 (P10L)	Single nucleotide variant (missense variant)	not provided	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 227152	NM_006005.3(WFS1):c.41A>G (p.Gln14Arg)	WFS1 (Q14R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +3 more	GBenign/Likely benign
Select item 3190521	NM_006005.3(WFS1):c.44C>A (p.Pro15His)	WFS1 (P15H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049018	NM_006005.3(WFS1):c.45C>A (p.Pro15=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951073	NM_006005.3(WFS1):c.45C>T (p.Pro15=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328332	NM_006005.3(WFS1):c.47C>T (p.Pro16Leu)	WFS1 (P16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897514	NM_006005.3(WFS1):c.48G>A (p.Pro16=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806199	NM_006005.3(WFS1):c.57_64dup (p.Gln22fs)	WFS1 (Q22fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2920897	NM_006005.3(WFS1):c.57G>C (p.Pro19=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799088	NM_006005.3(WFS1):c.57G>A (p.Pro19=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2961085	NM_006005.3(WFS1):c.58C>T (p.Gln20Ter)	WFS1 (Q20*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1315875	NM_006005.3(WFS1):c.61C>A (p.Pro21Thr)	WFS1 (P21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929935	NM_006005.3(WFS1):c.61C>G (p.Pro21Ala)	WFS1 (P21A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1378803	NM_006005.3(WFS1):c.67G>T (p.Ala23Ser)	WFS1 (A23S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194445	NM_006005.3(WFS1):c.68C>T (p.Ala23Val)	WFS1 (A23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386280	NM_006005.3(WFS1):c.69G>A (p.Ala23=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 349303	NM_006005.3(WFS1):c.70C>T (p.Arg24Cys)	WFS1 (R24C)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +2 more	GUncertain significance/Uncertain risk allele
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 1810330	NM_006005.3(WFS1):c.81C>G (p.Leu27=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
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 2107896	NM_006005.3(WFS1):c.83A>C (p.Asn28Thr)	WFS1 (N28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45461	NM_006005.3(WFS1):c.83A>G (p.Asn28Ser)	WFS1 (N28S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance/Uncertain risk allele
Select item 1484846	NM_006005.3(WFS1):c.92C>A (p.Ala31Asp)	WFS1 (A31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215373	NM_006005.3(WFS1):c.92C>G (p.Ala31Gly)	WFS1 (A31G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2108288	NM_006005.3(WFS1):c.96G>C (p.Ser32=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 166566	NM_006005.3(WFS1):c.96G>A (p.Ser32=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +2 more	GBenign
Select item 1359645	NM_006005.3(WFS1):c.104A>G (p.Gln35Arg)	WFS1 (Q35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735948	NM_006005.3(WFS1):c.105G>T (p.Gln35His)	WFS1 (Q35H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115909	NM_006005.3(WFS1):c.108G>A (p.Glu36=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938700	NM_006005.3(WFS1):c.110G>C (p.Arg37Thr)	WFS1 (R37T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395737	NM_006005.3(WFS1):c.113G>A (p.Ser38Asn)	WFS1 (S38N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 289017	NM_006005.3(WFS1):c.114C>T (p.Ser38=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +4 more	GConflicting classifications of pathogenicity
Select item 1810331	NM_006005.3(WFS1):c.115G>T (p.Glu39Ter)	WFS1 (E39*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GLikely pathogenic
Select item 349304	NM_006005.3(WFS1):c.115G>A (p.Glu39Lys)	WFS1 (E39K)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +3 more	GUncertain significance/Uncertain risk allele
Select item 424071	NM_006005.3(WFS1):c.124del (p.Arg42fs)	WFS1 (R42fs)	Deletion (frameshift variant)	Wolfram syndrome 1 +1 more	GPathogenic
Select item 2883603	NM_006005.3(WFS1):c.122C>A (p.Pro41His)	WFS1 (P41H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810050	NM_006005.3(WFS1):c.122C>T (p.Pro41Leu)	WFS1 (P41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838961	NM_006005.3(WFS1):c.124C>G (p.Arg42Gly)	WFS1 (R42G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189251	NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	WFS1 (R42*)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus +7 more	GPathogenic/Likely pathogenic
Select item 2987526	NM_006005.3(WFS1):c.125G>T (p.Arg42Leu)	WFS1 (R42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517412	NM_006005.3(WFS1):c.125G>A (p.Arg42Gln)	WFS1 (R42Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1367072	NM_006005.3(WFS1):c.127G>A (p.Ala43Thr)	WFS1 (A43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166568	NM_006005.3(WFS1):c.128C>T (p.Ala43Val)	WFS1 (A43V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 386295	NM_006005.3(WFS1):c.129A>T (p.Ala43=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 2831051	NM_006005.3(WFS1):c.130C>T (p.Pro44Ser)	WFS1 (P44S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200405	NM_006005.3(WFS1):c.130C>A (p.Pro44Thr)	WFS1 (P44T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506834	NM_006005.3(WFS1):c.132C>A (p.Pro44=)	WFS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 349305	NM_006005.3(WFS1):c.132C>T (p.Pro44=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 805752	NM_006005.3(WFS1):c.133G>A (p.Gly45Arg)	WFS1 (G45R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2154234	NM_006005.3(WFS1):c.136C>T (p.Pro46Ser)	WFS1 (P46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021835	NM_006005.3(WFS1):c.138C>T (p.Pro46=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150035	NM_006005.3(WFS1):c.140A>G (p.Gln47Arg)	WFS1 (Q47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893206	NM_006005.3(WFS1):c.147CCCTGG[3] (p.Gly53_Val54insProGly)	WFS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 45435	NM_006005.3(WFS1):c.143C>T (p.Ala48Val)	WFS1 (A48V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1800547	NM_006005.3(WFS1):c.154C>G (p.Pro52Ala)	WFS1 (P52A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 593883	NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)	WFS1 (P52T)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1718594	NM_006005.3(WFS1):c.157G>C (p.Gly53Arg)	WFS1 (G53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803922	NM_006005.3(WFS1):c.158G>C (p.Gly53Ala)	WFS1 (G53A)	Single nucleotide variant (missense variant)	Wolfram-like syndrome +1 more	GUncertain significance
Select item 1384850	NM_006005.3(WFS1):c.158G>T (p.Gly53Val)	WFS1 (G53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373640	NM_006005.3(WFS1):c.164G>A (p.Arg55Lys)	WFS1 (R55K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132005	NM_006005.3(WFS1):c.166G>A (p.Asp56Asn)	WFS1 (D56N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 349306	NM_006005.3(WFS1):c.168C>T (p.Asp56=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +3 more	GConflicting classifications of pathogenicity
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 215374	NM_006005.3(WFS1):c.169G>T (p.Ala57Ser)	WFS1 (A57S)	Single nucleotide variant (missense variant)	not provided +1 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 516852	NM_006005.3(WFS1):c.173C>T (p.Ala58Val)	WFS1 (A58V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2177657	NM_006005.3(WFS1):c.174G>A (p.Ala58=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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