ClinVar for MedGen (Select 1794165) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664318	NM_006390.4(IPO8):c.2126T>C (p.Leu709Pro)	IPO8 (L504P +1 more)	Single nucleotide variant (missense variant)	VISS syndrome	GUncertain significance
Select item 2572415	NM_006390.4(IPO8):c.639+1G>A	IPO8	Single nucleotide variant (splice donor variant)	VISS syndrome	GPathogenic
Select item 2205776	NM_006390.4(IPO8):c.339G>A (p.Met113Ile)	IPO8 (M113I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1526426	NM_006390.4(IPO8):c.1933C>T (p.Gln645Ter)	IPO8 (Q440* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome	GLikely pathogenic
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 1192309	NM_006390.4(IPO8):c.2695+4_2695+8del	IPO8	Deletion (intron variant)	VISS syndrome	GPathogenic
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 1064727	NM_006390.4(IPO8):c.2279del (p.Leu760fs)	IPO8 (L555fs +1 more)	Deletion (frameshift variant)	VISS syndrome	GPathogenic
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 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 1064722	NM_006390.4(IPO8):c.82C>T (p.Gln28Ter)	IPO8 (Q28*)	Single nucleotide variant (nonsense)	VISS syndrome	GPathogenic
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 1064720	NM_006390.4(IPO8):c.262G>A (p.Asp88Asn)	IPO8 (D88N)	Single nucleotide variant (missense variant)	VISS syndrome	GLikely pathogenic
Select item 1047915	NM_006390.4(IPO8):c.2900-1G>A	IPO8	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1047913	NM_006390.4(IPO8):c.776G>A (p.Trp259Ter)	IPO8 (W259* +1 more)	Single nucleotide variant (nonsense)	IPO8-related aortopathy +1 more	GPathogenic
Select item 1047912	NM_006390.4(IPO8):c.2597_2601del (p.Leu866fs)	IPO8 (L661fs +1 more)	Deletion (frameshift variant)	IPO8-related aortopathy	GPathogenic
Select item 1047911	NM_006390.4(IPO8):c.1428+5G>A	IPO8	Single nucleotide variant (intron variant)	IPO8-related aortopathy	GPathogenic