"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "IPO8"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 712730	NM_006390.4(IPO8):c.3047G>T (p.Gly1016Val)	IPO8 (G1016V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 716430	NM_006390.4(IPO8):c.2589C>T (p.Pro863=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715646	NM_006390.4(IPO8):c.1495G>A (p.Val499Ile)	IPO8 (V294I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1047908	NM_006390.4(IPO8):c.1420C>T (p.Arg474Ter)	IPO8 (R269* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 775097	NM_006390.4(IPO8):c.1144+9G>A	IPO8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778077	NM_006390.4(IPO8):c.1045-7A>T	IPO8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770229	NM_006390.4(IPO8):c.1045-8C>T	IPO8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725614	NM_006390.4(IPO8):c.824+7A>G	IPO8	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2070383	NM_006390.4(IPO8):c.85-1G>C	IPO8	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic