"Molecular Endocrinology Laboratory, Christian Medical College"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1264331	NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)	WFS1 (W129*)	Single nucleotide variant (nonsense)	Cataract 41 +4 more	GPathogenic/Likely pathogenic
Select item 1264334	NM_006005.3(WFS1):c.528_531dup (p.Lys178fs)	WFS1 (K178fs)	Microsatellite (frameshift variant)	Wolfram syndrome 1	GUncertain significance
Select item 1264330	NM_006005.3(WFS1):c.1107_1108insA (p.Ala370fs)	WFS1 (A370fs)	Insertion (frameshift variant)	Wolfram syndrome 1	GPathogenic
Select item 429753	NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)	WFS1 (V412fs)	Microsatellite (frameshift variant)	WFS1-Related Spectrum Disorders +8 more	GPathogenic
Select item 198835	NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	WFS1 (R558C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1264332	NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter)	WFS1 (S654*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GPathogenic
Select item 1264333	NM_006005.3(WFS1):c.2197T>G (p.Cys733Gly)	WFS1 (C733G)	Single nucleotide variant (missense variant)	Wolfram syndrome 1	GLikely pathogenic
Select item 215409	NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)	WFS1 (F883fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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