"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "WFS1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 504707	NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)	WFS1 (F264L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 166577	NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)	WFS1 (D267N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 592987	NM_006005.3(WFS1):c.977C>T (p.Ala326Val)	WFS1 (A326V)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 229635	NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys)	WFS1 (Y351C)	Single nucleotide variant (missense variant)	Monogenic diabetes +7 more	GUncertain significance
Select item 374398	NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)	WFS1 (C360Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 393388	NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)	WFS1 (A422V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 907591	NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys)	WFS1 (R611C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 178597	NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)	WFS1 (R653C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +7 more	GConflicting classifications of pathogenicity
Select item 1323770	NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter)	WFS1 (Q668*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 215394	NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)	WFS1 (G674R)	Single nucleotide variant (missense variant)	Wolfram-like syndrome +6 more	GConflicting classifications of pathogenicity
Select item 215396	NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys)	WFS1 (R732C)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 229641	NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu)	WFS1 (S790L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130748	NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)	WFS1 (R818C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1207795	NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys)	WFS1 (R868C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance