Related gene-specific medical variations for Gene (Select 7466) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2438606	NM_006005.3(WFS1):c.-6+1824G>C	WFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2438605	NM_006005.3(WFS1):c.2542C>T (p.Leu848Phe)	WFS1 (L848F)	Single nucleotide variant (missense 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 2434653	NM_006005.3(WFS1):c.890_937dup (p.Met312_His313insLeuGluIleLysGluTyrLeuIleAspMetAlaSerArgAlaGlyMet)	WFS1	Duplication (inframe_insertion)	not provided	GLikely pathogenic
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 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 1179192	NM_006005.3(WFS1):c.2293del (p.Cys765fs)	WFS1 (C765fs)	Deletion (frameshift variant)	Wolfram syndrome 1 +4 more	GLikely pathogenic
Select item 931915	NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro)	WFS1 (R868P)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 907168	NM_006005.3(WFS1):c.-127A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 906170	NM_006005.3(WFS1):c.-148G>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 903823	NM_006005.3(WFS1):c.-93G>C	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 618493	NM_006005.3(WFS1):c.2207G>A (p.Gly736Asp)	WFS1 (G736D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 493390	NM_006005.3(WFS1):c.2001G>C (p.Gln667His)	WFS1 (Q667H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 349300	NM_006005.3(WFS1):c.-100C>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +1 more	GUncertain significance
Select item 349299	NM_006005.3(WFS1):c.-105T>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 349298	NM_006005.3(WFS1):c.-106A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 349297	NM_006005.3(WFS1):c.-129A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 349296	NM_006005.3(WFS1):c.-130C>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 6 +3 more	GConflicting classifications of pathogenicity
Select item 349295	NM_006005.3(WFS1):c.-133G>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 349294	NM_006005.3(WFS1):c.-141A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 6 +3 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 33