ClinVar for MedGen (Select 331419) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250409	NM_006005.3:c.[1673G>A];[1549C>T]			Wolfram syndrome 1	GPathogenic
Select item 2578442	NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser)	WFS1 (N682S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6	GUncertain significance
Select item 2203527	NM_006005.3(WFS1):c.2021G>A (p.Gly674Glu)	WFS1 (G674E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1810358	NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs)	WFS1 (F515fs)	Insertion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 6	GLikely pathogenic
Select item 1803202	NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)	WFS1 (V546I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6	GUncertain significance
Select item 1709941	NM_006005.3(WFS1):c.255A>T (p.Glu85Asp)	WFS1 (E85D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6	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 1670532	NM_006005.3(WFS1):c.1377G>A (p.Leu459=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +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 1659723	NM_006005.3(WFS1):c.444C>T (p.Cys148=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +5 more	GLikely benign
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 1647181	NM_006005.3(WFS1):c.315+17C>T	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +5 more	GLikely benign
Select item 1643826	NM_006005.3(WFS1):c.2520C>T (p.Phe840=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1641953	NM_006005.3(WFS1):c.1365G>A (p.Thr455=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +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 1600187	NM_006005.3(WFS1):c.2391C>T (p.Asp797=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1598253	NM_006005.3(WFS1):c.2118C>T (p.Tyr706=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1597510	NM_006005.3(WFS1):c.1494C>T (p.Val498=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +5 more	GLikely benign
Select item 1589906	NM_006005.3(WFS1):c.2349C>T (p.Phe783=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +5 more	GLikely benign
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 1577010	NM_006005.3(WFS1):c.1476T>C (p.Pro492=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1573447	NM_006005.3(WFS1):c.1008C>G (p.Leu336=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +5 more	GLikely benign
Select item 1572110	NM_006005.3(WFS1):c.2612T>G (p.Val871Gly)	WFS1 (V871G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1562848	NM_006005.3(WFS1):c.1752G>A (p.Gln584=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely 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 1523954	NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala)	WFS1 (P607A)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 1508796	NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn)	WFS1 (S869N)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GUncertain significance
Select item 1500838	NM_006005.3(WFS1):c.1958G>A (p.Arg653His)	WFS1 (R653H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1499525	NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr)	WFS1 (A460T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 1497013	NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser)	WFS1 (A677S)	Single nucleotide variant (missense variant)	not provided +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 1473197	NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys)	WFS1 (R772C)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +6 more	GUncertain significance
Select item 1473078	NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys)	WFS1 (G437C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1469462	NM_006005.3(WFS1):c.2552T>G (p.Met851Arg)	WFS1 (M851R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 1463670	NM_006005.3(WFS1):c.2282C>T (p.Ala761Val)	WFS1 (A761V)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
Select item 1458815	NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer)	WFS1	Deletion (nonsense)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GPathogenic/Likely pathogenic
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 1456380	NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)	WFS1 (W540*)	Single nucleotide variant (nonsense)	Cataract 41 +5 more	GPathogenic/Likely pathogenic
Select item 1455530	NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)	WFS1 (Q520*)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus +5 more	GPathogenic
Select item 1453842	NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)	WFS1	Deletion (inframe_deletion)	Cataract 41 +5 more	GPathogenic/Likely pathogenic
Select item 1450939	NM_006005.3(WFS1):c.2392G>A (p.Val798Ile)	WFS1 (V798I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1444830	NM_006005.3(WFS1):c.1930G>A (p.Val644Met)	WFS1 (V644M)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
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 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 1415749	NM_006005.3(WFS1):c.2125G>A (p.Val709Met)	WFS1 (V709M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1415009	NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser)	WFS1 (G562S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1412493	NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser)	WFS1 (G494S)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
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 1411656	NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr)	WFS1 (A738T)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
Select item 1405243	NM_006005.3(WFS1):c.2315G>A (p.Arg772His)	WFS1 (R772H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1403563	NM_006005.3(WFS1):c.1550G>A (p.Arg517His)	WFS1 (R517H)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
Select item 1402442	NM_006005.3(WFS1):c.1471G>A (p.Val491Met)	WFS1 (V491M)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +6 more	GUncertain significance
Select item 1401302	NM_006005.3(WFS1):c.1883C>T (p.Thr628Met)	WFS1 (T628M)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1396272	NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys)	WFS1 (R517C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 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 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 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 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 1383458	NM_006005.3(WFS1):c.1364C>T (p.Thr455Met)	WFS1 (T455M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1382171	NM_006005.3(WFS1):c.613G>A (p.Gly205Ser)	WFS1 (G205S)	Single nucleotide variant (missense variant)	WFS1-related disorder +6 more	GUncertain significance
Select item 1378166	NM_006005.3(WFS1):c.1645C>A (p.Leu549Met)	WFS1 (L549M)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GUncertain significance
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 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 1370377	NM_006005.3(WFS1):c.1243G>C (p.Val415Leu)	WFS1 (V415L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GUncertain significance
Select item 1367278	NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr)	WFS1 (D866Y)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 1352971	NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile)	WFS1 (T440I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1348987	NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala)	WFS1 (E550A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
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 1331576	NM_006005.3(WFS1):c.1478T>C (p.Val493Ala)	WFS1 (V493A)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1328885	NM_006005.3(WFS1):c.2296C>T (p.His766Tyr)	WFS1 (H766Y)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance/Uncertain risk allele
Select item 1328828	NM_006005.3(WFS1):c.2528A>T (p.Lys843Met)	WFS1 (K843M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327781	NM_006005.3(WFS1):c.2580C>A (p.His860Gln)	WFS1 (H860Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 1320402	NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile)	WFS1 (T595I)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GUncertain significance
Select item 1318767	NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys)	WFS1 (R456C)	Single nucleotide variant (missense variant)	WFS1-related disorder +6 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 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 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 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 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 1315965	NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln)	WFS1 (K482Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 1315881	NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala)	WFS1 (P764A)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 1298955	NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del)	WFS1 (F516del)	Microsatellite (inframe_deletion)	not provided +5 more	GPathogenic/Likely pathogenic
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 1297606	NM_006005.3(WFS1):c.2108G>A (p.Arg703His)	WFS1 (R703H)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
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 1245208	NM_006005.3(WFS1):c.510C>T (p.Thr170=)	WFS1	Single nucleotide variant (synonymous variant)	Cataract 41 +5 more	GLikely benign
Select item 1218633	NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys)	WFS1 (Y650C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1216007	NM_006005.3(WFS1):c.1492G>A (p.Val498Ile)	WFS1 (V498I)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
Select item 1215749	NM_006005.3(WFS1):c.1744G>A (p.Val582Met)	WFS1 (V582M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1207795	NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys)	WFS1 (R868C)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
Select item 1207388	NM_006005.3(WFS1):c.393C>T (p.Val131=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign

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