"GeneDx"[submitter] AND "WFS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
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 1242909	NC_000004.12:g.6269836_6269841dup	LOC129992166, WFS1	Duplication (genic upstream transcript variant)	not provided	GBenign
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 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 1707072	NM_006005.3(WFS1):c.-2_-1inv	WFS1	Inversion (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 1315875	NM_006005.3(WFS1):c.61C>A (p.Pro21Thr)	WFS1 (P21T)	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 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 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 215373	NM_006005.3(WFS1):c.92C>G (p.Ala31Gly)	WFS1 (A31G)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +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 166566	NM_006005.3(WFS1):c.96G>A (p.Ser32=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 424071	NM_006005.3(WFS1):c.124del (p.Arg42fs)	WFS1 (R42fs)	Deletion (frameshift variant)	Wolfram syndrome 1 +1 more	GPathogenic
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 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 3375937	NM_006005.3(WFS1):c.125G>C (p.Arg42Pro)	WFS1 (R42P)	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 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 506834	NM_006005.3(WFS1):c.132C>A (p.Pro44=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 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 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 1320724	NM_006005.3(WFS1):c.175G>T (p.Ala59Ser)	WFS1 (A59S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 903895	NM_006005.3(WFS1):c.176C>T (p.Ala59Val)	WFS1 (A59V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1202541	NM_006005.3(WFS1):c.211C>T (p.Arg71Trp)	WFS1 (R71W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 166569	NM_006005.3(WFS1):c.225C>T (p.Asp75=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +4 more	GBenign
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 215375	NM_006005.3(WFS1):c.227G>T (p.Gly76Val)	WFS1 (G76V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GConflicting classifications of pathogenicity
Select item 1703466	NM_006005.3(WFS1):c.229_230delinsCA (p.Thr77His)	WFS1 (T77H)	Indel (missense variant)	not provided	GUncertain significance
Select item 391090	NM_006005.3(WFS1):c.231C>T (p.Thr77=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903896	NM_006005.3(WFS1):c.232G>A (p.Gly78Arg)	WFS1 (G78R)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1201156	NM_006005.3(WFS1):c.232+45T>C	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676437	NM_006005.3(WFS1):c.232+90G>A	WFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1208079	NM_006005.3(WFS1):c.232+140C>T	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291901	NM_006005.3(WFS1):c.232+225C>A	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1697081	NM_006005.3(WFS1):c.239C>T (p.Thr80Ile)	WFS1 (T80I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804590	NM_006005.3(WFS1):c.289G>T (p.Ala97Ser)	WFS1 (A97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668499	NM_006005.3(WFS1):c.315+12G>A	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 1198456	NM_006005.3(WFS1):c.315+29C>T	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197682	NM_006005.3(WFS1):c.315+236A>T	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676672	NM_006005.3(WFS1):c.316-235C>G	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +1 more	GBenign
Select item 1265866	NM_006005.3(WFS1):c.316-225G>A	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672589	NM_006005.3(WFS1):c.316-164A>G	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 1292284	NM_006005.3(WFS1):c.316-120T>C	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675932	NM_006005.3(WFS1):c.316-37C>T	WFS1	Single nucleotide variant (intron variant)	not provided	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 3371080	NM_006005.3(WFS1):c.317T>A (p.Val106Glu)	WFS1 (V106E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166570	NM_006005.3(WFS1):c.325C>T (p.His109Tyr)	WFS1 (H109Y)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 3343706	NM_006005.3(WFS1):c.333G>A (p.Leu111=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 507540	NM_006005.3(WFS1):c.345C>T (p.Gly115=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 45457	NM_006005.3(WFS1):c.350C>T (p.Thr117Met)	WFS1 (T117M)	Single nucleotide variant (missense variant)	Diabetes mellitus +3 more	GBenign/Likely benign
Select item 178584	NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)	WFS1 (D118A)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
Select item 1328624	NM_006005.3(WFS1):c.358G>A (p.Glu120Lys)	WFS1 (E120K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546239	NM_006005.3(WFS1):c.361C>T (p.Leu121Phe)	WFS1 (L121F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707640	NM_006005.3(WFS1):c.363C>T (p.Leu121=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 372583	NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)	WFS1 (A126T)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1041432	NM_006005.3(WFS1):c.382G>T (p.Asp128Tyr)	WFS1 (D128Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance/Uncertain risk allele
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 668661	NM_006005.3(WFS1):c.396C>T (p.Leu132=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1331467	NM_006005.3(WFS1):c.397G>A (p.Ala133Thr)	WFS1 (A133T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 45458	NM_006005.3(WFS1):c.402G>A (p.Ala134=)	WFS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 4519	NM_006005.3(WFS1):c.409_424dup (p.Val142fs)	WFS1 (V142fs)	Duplication (frameshift variant)	Wolfram syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1000139	NM_006005.3(WFS1):c.412C>T (p.Arg138Cys)	WFS1 (R138C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1200124	NM_006005.3(WFS1):c.416G>A (p.Arg139His)	WFS1 (R139H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682544	NM_006005.3(WFS1):c.417C>T (p.Arg139=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GLikely benign
Select item 1712841	NM_006005.3(WFS1):c.424G>T (p.Val142Leu)	WFS1 (V142L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319042	NM_006005.3(WFS1):c.437G>A (p.Arg146His)	WFS1 (R146H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 178585	NM_006005.3(WFS1):c.449C>T (p.Ala150Val)	WFS1 (A150V)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1315939	NM_006005.3(WFS1):c.456A>T (p.Arg152Ser)	WFS1 (R152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4515	NM_006005.3(WFS1):c.460+1G>A	WFS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1230484	NM_006005.3(WFS1):c.460+145C>G	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684341	NM_006005.3(WFS1):c.461-281G>C	WFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1186784	NM_006005.3(WFS1):c.461-244C>T	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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