ClinVar for Gene (Select 7466) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383446	NM_006005.3(WFS1):c.2286G>T (p.Lys762Asn)	WFS1 (K762N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3382082	NM_006005.3(WFS1):c.2637C>G (p.Phe879Leu)	WFS1 (F879L)	Single nucleotide variant (missense variant)	Cataract 41 +4 more	GUncertain significance
Select item 3382081	NM_006005.3(WFS1):c.2070_2079del (p.Cys690fs)	WFS1 (C690fs)	Deletion (frameshift variant)	Cataract 41 +4 more	GLikely pathogenic
Select item 3381937	NM_006005.3(WFS1):c.1228del (p.Leu410fs)	WFS1 (L410fs)	Deletion (frameshift variant)	Cataract 41 +4 more	GLikely pathogenic
Select item 3381524	NM_006005.3(WFS1):c.2056A>G (p.Thr686Ala)	WFS1 (T686A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3377401	NM_006005.3(WFS1):c.1419_1427del (p.Met474_Leu476del)	WFS1	Deletion	Autosomal dominant nonsyndromic hearing loss 6	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 3376777	NM_006005.3(WFS1):c.2503A>T (p.Ser835Cys)	WFS1 (S835C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6	GUncertain significance
Select item 3376689	NM_006005.3(WFS1):c.2238C>A (p.Asn746Lys)	WFS1 (N746K)	Single nucleotide variant (missense variant)	Cataract 41	GUncertain significance
Select item 3376556	NM_006005.3(WFS1):c.740_741del (p.Phe247fs)	WFS1 (F247fs)	Deletion (frameshift variant)	Wolfram syndrome 1	GPathogenic
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 3375171	NC_000004.11:g.(6293725_6296767)_(6304993_?)dup	WFS1	Duplication	not specified	GUncertain significance
Select item 3373194	NM_006005.3(WFS1):c.2294G>A (p.Cys765Tyr)	WFS1 (C765Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3370533	NM_006005.3(WFS1):c.1499A>G (p.Asn500Ser)	WFS1 (N500S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368576	NM_006005.3(WFS1):c.1005C>A (p.Asn335Lys)	WFS1 (N335K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366794	NM_006005.3(WFS1):c.381G>C (p.Val127=)	WFS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3366172	NM_006005.3(WFS1):c.2344C>A (p.Pro782Thr)	WFS1 (P782T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365058	NM_006005.3(WFS1):c.970A>G (p.Ile324Val)	WFS1 (I324V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364921	NM_006005.3(WFS1):c.913G>T (p.Asp305Tyr)	WFS1 (D305Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363735	NM_006005.3(WFS1):c.2257G>A (p.Glu753Lys)	WFS1 (E753K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363700	NM_006005.3(WFS1):c.1307C>G (p.Thr436Ser)	WFS1 (T436S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361978	NM_006005.3(WFS1):c.1441C>G (p.Leu481Val)	WFS1 (L481V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361082	NM_006005.3(WFS1):c.1141C>T (p.Leu381=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3360183	NM_006005.3(WFS1):c.985TTC[2] (p.Phe331del)	WFS1 (F331del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3359941	NM_006005.3(WFS1):c.655G>A (p.Val219Met)	WFS1 (V219M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349067	NM_006005.3(WFS1):c.2410C>T (p.Leu804=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-related disorder	GLikely benign
Select item 3345213	NM_006005.3(WFS1):c.1504_1527dup (p.Val509_Tyr510insSerValProCysLeuLeuTyrVal)	WFS1	Duplication (inframe_insertion)	WFS1-related disorder	GLikely pathogenic
Select item 3343945	NM_006005.3(WFS1):c.2617G>A (p.Gly873Ser)	WFS1 (G873S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343706	NM_006005.3(WFS1):c.333G>A (p.Leu111=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3343403	NM_006005.3(WFS1):c.2003A>C (p.Gln668Pro)	WFS1 (Q668P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342991	NM_006005.3(WFS1):c.869A>C (p.Lys290Thr)	WFS1 (K290T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338851	NM_006005.3(WFS1):c.2378G>C (p.Arg793Pro)	WFS1 (R793P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3333092	NM_006005.3(WFS1):c.1654A>T (p.Thr552Ser)	WFS1 (T552S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333091	NM_006005.3(WFS1):c.2593C>G (p.His865Asp)	WFS1 (H865D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252699	NM_006005.3(WFS1):c.2141A>T (p.Asn714Ile)	WFS1 (N714I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252224	NM_006005.3(WFS1):c.1405T>C (p.Ser469Pro)	WFS1 (S469P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250409	NM_006005.3:c.[1673G>A];[1549C>T]			Wolfram syndrome 1	GPathogenic
Select item 3250140	NM_006005.3(WFS1):c.682C>T (p.Arg228Cys)	WFS1 (R228C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246743	NC_000004.11:g.(?_6288800)_(6304195_?)del	WFS1	Deletion	not provided	GPathogenic
Select item 3246742	NC_000004.11:g.(?_6288800)_(6293114_?)del	WFS1	Deletion	not provided	GPathogenic
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3237400	NM_006005.3(WFS1):c.1104_1105insT (p.Lys369Ter)	WFS1 (K369*)	Insertion (nonsense)	Wolfram syndrome 1	GLikely pathogenic
Select item 3190522	NM_006005.3(WFS1):c.886A>G (p.Ile296Val)	WFS1 (I296V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3190520	NM_006005.3(WFS1):c.1793C>T (p.Ala598Val)	WFS1 (A598V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190518	NM_006005.3(WFS1):c.1379C>T (p.Ala460Val)	WFS1 (A460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3190516	NM_006005.3(WFS1):c.1211C>G (p.Pro404Arg)	WFS1 (P404R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190515	NM_006005.3(WFS1):c.1118A>G (p.Asn373Ser)	WFS1 (N373S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3190514	NM_006005.3(WFS1):c.1102A>G (p.Ser368Gly)	WFS1 (S368G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3061672	NM_006005.3(WFS1):c.1217C>A (p.Ala406Asp)	WFS1 (A406D)	Single nucleotide variant (missense variant)	WFS1-related disorder	GLikely pathogenic
Select item 3045380	NM_006005.3(WFS1):c.1218C>T (p.Ala406=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-related disorder	GLikely benign
Select item 3044331	NM_006005.3(WFS1):c.476A>G (p.Asn159Ser)	WFS1 (N159S)	Single nucleotide variant (missense variant)	WFS1-related disorder	GUncertain significance
Select item 3042722	NM_006005.3(WFS1):c.*9C>T	WFS1	Single nucleotide variant (3 prime UTR variant)	WFS1-related disorder	GLikely benign
Select item 3034271	NC_000004.12:g.6269836T>A	LOC129992166, WFS1	Single nucleotide variant	WFS1-related disorder	GLikely benign
Select item 3033603	NC_000004.12:g.6269848T>A	LOC129992166, WFS1	Single nucleotide variant	WFS1-related disorder	GLikely benign
Select item 3031841	NM_006005.3(WFS1):c.906C>T (p.Tyr302=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-related disorder	GLikely benign
Select item 3031401	NM_006005.3(WFS1):c.2033G>A (p.Trp678Ter)	WFS1 (W678*)	Single nucleotide variant (nonsense)	WFS1-related disorder	GPathogenic
Select item 3029097	NM_006005.3(WFS1):c.929C>T (p.Ala310Val)	WFS1 (A310V)	Single nucleotide variant (missense variant)	WFS1-related disorder	GUncertain significance
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 3019373	NM_006005.3(WFS1):c.1787A>G (p.Lys596Arg)	WFS1 (K596R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018264	NM_006005.3(WFS1):c.2359_2360delinsAA (p.Ala787Asn)	WFS1 (A787N)	Indel (missense variant)	not provided	GUncertain significance
Select item 3015537	NM_006005.3(WFS1):c.478G>A (p.Glu160Lys)	WFS1 (E160K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011532	NM_006005.3(WFS1):c.2100G>C (p.Trp700Cys)	WFS1 (W700C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3008710	NM_006005.3(WFS1):c.2275C>T (p.Leu759=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006406	NM_006005.3(WFS1):c.2288A>G (p.His763Arg)	WFS1 (H763R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005134	NM_006005.3(WFS1):c.285C>A (p.Ala95=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004613	NM_006005.3(WFS1):c.1686C>G (p.Gly562=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003479	NM_006005.3(WFS1):c.2273A>T (p.Lys758Met)	WFS1 (K758M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003312	NM_006005.3(WFS1):c.2057C>T (p.Thr686Ile)	WFS1 (T686I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998407	NM_006005.3(WFS1):c.1367G>T (p.Arg456Leu)	WFS1 (R456L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993679	NM_006005.3(WFS1):c.461-18C>G	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992909	NM_006005.3(WFS1):c.1228C>T (p.Leu410Phe)	WFS1 (L410F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991725	NM_006005.3(WFS1):c.471C>G (p.Ser157=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990452	NM_006005.3(WFS1):c.1182G>A (p.Glu394=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2987464	NM_006005.3(WFS1):c.1883C>G (p.Thr628Arg)	WFS1 (T628R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2977516	NM_006005.3(WFS1):c.882C>A (p.His294Gln)	WFS1 (H294Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977421	NM_006005.3(WFS1):c.1410G>C (p.Leu470=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976544	NM_006005.3(WFS1):c.1786A>C (p.Lys596Gln)	WFS1 (K596Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974573	NM_006005.3(WFS1):c.2383G>A (p.Glu795Lys)	WFS1 (E795K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2973679	NM_006005.3(WFS1):c.315+20C>T	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964860	NM_006005.3(WFS1):c.1713C>T (p.Pro571=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963127	NM_006005.3(WFS1):c.1132A>T (p.Thr378Ser)	WFS1 (T378S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961085	NM_006005.3(WFS1):c.58C>T (p.Gln20Ter)	WFS1 (Q20*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2958613	NM_006005.3(WFS1):c.2437G>T (p.Val813Leu)	WFS1 (V813L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957015	NM_006005.3(WFS1):c.460+9G>A	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954643	NM_006005.3(WFS1):c.1859T>G (p.Val620Gly)	WFS1 (V620G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920897	NM_006005.3(WFS1):c.57G>C (p.Pro19=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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