ClinVar for MedGen (Select 1641635) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377468	NM_006005.3(WFS1):c.1485C>G (p.His495Gln)	WFS1 (H495Q)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain significance
Select item 3377398	NM_006005.3(WFS1):c.874C>T (p.Pro292Ser)	WFS1 (P292S)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely pathogenic
Select item 3376556	NM_006005.3(WFS1):c.740_741del (p.Phe247fs)	WFS1 (F247fs)	Deletion (frameshift variant)	Wolfram syndrome 1	GPathogenic
Select item 3338651	NM_006005.3(WFS1):c.1598C>T (p.Pro533Leu)	WFS1 (P533L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain significance
Select item 3338038	NM_006005.3(WFS1):c.2586G>C (p.Lys862Asn)	WFS1 (K862N)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely pathogenic
Select item 3338037	NM_006005.3(WFS1):c.2266C>G (p.Arg756Gly)	WFS1 (R756G)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely pathogenic
Select item 3250409	NM_006005.3:c.[1673G>A];[1549C>T]			Wolfram syndrome 1	GPathogenic
Select item 3237400	NM_006005.3(WFS1):c.1104_1105insT (p.Lys369Ter)	WFS1 (K369*)	Insertion (nonsense)	Wolfram syndrome 1	GLikely pathogenic
Select item 3065747	NM_006005.3(WFS1):c.1975G>T (p.Val659Phe)	WFS1 (V659F)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain significance
Select item 2734643	NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp)	WFS1 (A559D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2702063	NM_006005.3(WFS1):c.2536_2539dup (p.Cys847Ter)	WFS1 (C847*)	Duplication (nonsense)	Wolfram syndrome 1 +1 more	GPathogenic
Select item 2671775	NM_006005.3(WFS1):c.2141_2164del (p.Asn714_Asn721del)	WFS1	Deletion	not provided +1 more	GUncertain significance
Select item 2629482	NM_006005.3(WFS1):c.1439A>G (p.Tyr480Cys)	WFS1 (Y480C)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance
Select item 2576992	NM_006005.3(WFS1):c.460+1G>C	WFS1	Single nucleotide variant (splice donor variant)	Wolfram syndrome 1	GPathogenic
Select item 2576979	NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter)	WFS1 (W613*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GPathogenic
Select item 2576526	NM_006005.3(WFS1):c.2006A>G (p.Tyr669Cys)	WFS1 (Y669C)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely pathogenic
Select item 2545863	NM_006005.3(WFS1):c.2449C>A (p.Leu817Met)	WFS1 (L817M)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance
Select item 2499486	NM_006005.3(WFS1):c.1627C>T (p.Leu543Phe)	WFS1 (L543F)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely pathogenic
Select item 2442313	NM_006005.3(WFS1):c.2570C>T (p.Thr857Ile)	WFS1 (T857I)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain significance
Select item 2442292	NC_000004.12:g.6304102C>A	WFS1	Single nucleotide variant	Wolfram syndrome 1	GBenign
Select item 2442291	NM_006005.3(WFS1):c.2484C>A (p.Ile828=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GLikely benign
Select item 2442258	NM_006005.3(WFS1):c.2350A>C (p.Ser784Arg)	WFS1 (S784R)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely benign
Select item 2442243	NM_006005.3(WFS1):c.2337G>A (p.Val779=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 2442242	NM_006005.3(WFS1):c.2459G>T (p.Gly820Val)	WFS1 (G820V)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely risk allele
Select item 2442241	NM_006005.3(WFS1):c.2455C>G (p.Gln819Glu)	WFS1 (Q819E)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely risk allele
Select item 2430204	NM_006005.3(WFS1):c.1947C>G (p.Phe649Leu)	WFS1 (F649L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain significance
Select item 2429743	NM_006005.3(WFS1):c.2061G>T (p.Gln687His)	WFS1 (Q687H)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely risk allele
Select item 2429740	NM_006005.3(WFS1):c.1836G>C (p.Trp612Cys)	WFS1 (W612C)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain risk allele
Select item 2429739	NM_006005.3(WFS1):c.2030C>G (p.Ala677Gly)	WFS1 (A677G)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain risk allele
Select item 2429731	NM_006005.3(WFS1):c.*553G>C	WFS1	Single nucleotide variant (3 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 2429730	NM_006005.3(WFS1):c.*683delinsTGTGGGGGA	WFS1	Indel (3 prime UTR variant)	Wolfram syndrome 1	GUncertain significance
Select item 2429477	NM_006005.3(WFS1):c.1653C>T (p.Ser551=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2429475	NM_006005.3(WFS1):c.2001G>A (p.Gln667=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 2429350	NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter)	WFS1 (Y454*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GPathogenic
Select item 2203519	NM_006005.3(WFS1):c.1523_1524del (p.Tyr508fs)	WFS1 (Y508fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2203516	NM_006005.3(WFS1):c.1232_1233del (p.Ser411fs)	WFS1 (S411fs)	Microsatellite (frameshift variant)	Wolfram syndrome 1 +1 more	GPathogenic
Select item 2182662	NM_006005.3(WFS1):c.2638G>A (p.Asp880Asn)	WFS1 (D880N)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance
Select item 2045929	NM_006005.3(WFS1):c.2101A>T (p.Thr701Ser)	WFS1 (T701S)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 1810380	NM_006005.3(WFS1):c.1194C>T (p.Gly398=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 1810364	NM_006005.3(WFS1):c.1192G>A (p.Gly398Ser)	WFS1 (G398S)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +2 more	GUncertain significance/Uncertain risk allele
Select item 1810363	NM_006005.3(WFS1):c.1020C>T (p.Phe340=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 1810362	NM_006005.3(WFS1):c.837T>G (p.Pro279=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 1810361	NM_006005.3(WFS1):c.884C>G (p.Ala295Gly)	WFS1 (A295G)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely benign
Select item 1810360	NM_006005.3(WFS1):c.873C>T (p.Tyr291=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1810359	NM_006005.3(WFS1):c.713-1317A>T	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1	GBenign
Select item 1810357	NM_006005.3(WFS1):c.1099G>T (p.Asp367Tyr)	WFS1 (D367Y)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1810353	NM_006005.3(WFS1):c.968A>T (p.His323Leu)	WFS1 (H323L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GUncertain risk allele
Select item 1810335	NM_006005.3(WFS1):c.615C>T (p.Gly205=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1810334	NM_006005.3(WFS1):c.461-169_461-168insAGGAGCATG	WFS1	Insertion (intron variant)	Wolfram syndrome 1	GLikely benign
Select item 1810333	NM_006005.3(WFS1):c.316-14T>G	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1	GBenign
Select item 1810332	NM_006005.3(WFS1):c.361C>A (p.Leu121Ile)	WFS1 (L121I)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance
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 1810330	NM_006005.3(WFS1):c.81C>G (p.Leu27=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
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 1803909	NM_006005.3(WFS1):c.1620G>T (p.Trp540Cys)	WFS1 (W540C)	Single nucleotide variant (missense variant)	Wolfram-like syndrome +1 more	GUncertain significance
Select item 1802674	NM_006005.3(WFS1):c.-100C>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 1802671	NM_006005.3(WFS1):c.-55C>T	WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 1709531	NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter)	WFS1 (W371*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GPathogenic
Select item 1709484	NM_006005.3(WFS1):c.1024_1032dup (p.Phe344_Ile345insAlaPhePhe)	WFS1	Duplication (inframe_insertion)	Wolfram syndrome 1	GLikely pathogenic
Select item 1707601	NM_006005.3(WFS1):c.1917G>A (p.Trp639Ter)	WFS1 (W639*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GLikely pathogenic
Select item 1705714	NM_006005.3(WFS1):c.1491_1492insT (p.Val498fs)	WFS1 (V498fs)	Insertion (frameshift variant)	Wolfram syndrome 1	GLikely pathogenic
Select item 1705303	NM_006005.3(WFS1):c.1991T>G (p.Leu664Arg)	WFS1 (L664R)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 1697349	NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter)	WFS1 (W648*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GPathogenic
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 1645049	NM_006005.3(WFS1):c.1452T>G (p.Leu484=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GBenign/Likely 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 1594335	NM_006005.3(WFS1):c.1740G>T (p.Val580=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GBenign/Likely 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 1584586	NM_006005.3(WFS1):c.976G>A (p.Ala326Thr)	WFS1 (A326T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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)	Cataract 41 +5 more	GLikely 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 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 1552207	NM_006005.3(WFS1):c.2595C>T (p.His865=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1526050	NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter)	WFS1 (W478*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 1521787	NM_006005.3(WFS1):c.1676C>T (p.Ala559Val)	WFS1 (A559V)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance/Uncertain risk allele
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

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