"Biochemistry and Genetics Laboratory, University Hospital of Angers"[ - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1064723	NM_006390.4(IPO8):c.2695+3_2695+7del	IPO8	Deletion (splice donor variant)	IPO8 related Connective tissue disorder	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 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 1064727	NM_006390.4(IPO8):c.2279del (p.Leu760fs)	IPO8 (L555fs +1 more)	Deletion (frameshift variant)	VISS syndrome	GPathogenic
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 1064724	NM_006390.4(IPO8):c.1538del (p.Pro513fs)	IPO8 (P308fs +1 more)	Deletion (frameshift variant)	IPO8 related Connective tissue disorder	GPathogenic
Select item 1064728	NM_006390.4(IPO8):c.728del (p.Pro243fs)	IPO8 (P243fs +1 more)	Deletion (frameshift variant)	IPO8 related Connective tissue disorder	GPathogenic
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