C0000744[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323301	NM_001386140.1(MTTP):c.501+1G>A	MTTP	Single nucleotide variant (splice donor variant)	Abetalipoproteinaemia	GPathogenic
Select item 2690280	NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)	MTTP (Q161* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GPathogenic
Select item 956573	NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter)	MTTP (R777* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

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