C5561955[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064726	NM_006390.4(IPO8):c.2500C>T (p.Arg834Trp)	IPO8 (R629W +1 more)	Single nucleotide variant (missense variant)	VISS syndrome	GLikely pathogenic
Select item 1064721	NM_006390.4(IPO8):c.2407C>T (p.Arg803Ter)	IPO8 (R598* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1064725	NM_006390.4(IPO8):c.2245T>C (p.Cys749Arg)	IPO8 (C544R +1 more)	Single nucleotide variant (missense variant)	VISS syndrome	GLikely pathogenic
Select item 1064729	NM_006390.4(IPO8):c.2129C>G (p.Ser710Ter)	IPO8 (S505* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome	GLikely pathogenic
Select item 1526426	NM_006390.4(IPO8):c.1933C>T (p.Gln645Ter)	IPO8 (Q440* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome	GLikely pathogenic
Select item 1526427	NM_006390.4(IPO8):c.950A>G (p.Tyr317Cys)	IPO8 (Y112C +1 more)	Single nucleotide variant (missense variant)	VISS syndrome	GUncertain significance
Select item 1526425	NM_006390.4(IPO8):c.700C>T (p.Arg234Ter)	IPO8 (R234* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome	GLikely pathogenic
Select item 1064720	NM_006390.4(IPO8):c.262G>A (p.Asp88Asn)	IPO8 (D88N)	Single nucleotide variant (missense variant)	VISS syndrome	GLikely pathogenic
Select item 1064722	NM_006390.4(IPO8):c.82C>T (p.Gln28Ter)	IPO8 (Q28*)	Single nucleotide variant (nonsense)	VISS syndrome	GPathogenic

ClinVar