"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189251	NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	WFS1 (R42*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 6 +7 more	GPathogenic/Likely pathogenic
Select item 449979	NM_006005.3(WFS1):c.1467C>G (p.Ile489Met)	WFS1 (I489M)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 930623	NM_006005.3(WFS1):c.2051C>G (p.Ala684Gly)	WFS1 (A684G)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 373968	NM_006005.3(WFS1):c.2437G>A (p.Val813Met)	WFS1 (V813M)	Single nucleotide variant (missense variant)	Hearing impairment +6 more	GUncertain significance
Select item 930354	NM_006005.3(WFS1):c.2480C>T (p.Thr827Ile)	WFS1 (T827I)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance/Uncertain risk allele
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

ClinVar