C1833021[trait identifier] AND "Laboratory of Prof. Karen Avraham, Tel - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191322	NM_006005.3(WFS1):c.862G>A (p.Val288Met)	WFS1 (V288M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GConflicting classifications of pathogenicity
Select item 1396272	NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys)	WFS1 (R517C)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GConflicting classifications of pathogenicity
Select item 427051	NM_006005.3(WFS1):c.1673G>A (p.Arg558His)	WFS1 (R558H)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +8 more	GPathogenic/Likely pathogenic
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 2203527	NM_006005.3(WFS1):c.2021G>A (p.Gly674Glu)	WFS1 (G674E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 393391	NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)	WFS1 (R685C)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GConflicting classifications of pathogenicity
Select item 4526	NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	WFS1 (E864K)	Single nucleotide variant (missense variant)	Wolfram-like syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1572110	NM_006005.3(WFS1):c.2612T>G (p.Val871Gly)	WFS1 (V871G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 283864	NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr)	WFS1 (A874T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GConflicting classifications of pathogenicity