ClinVar for OMIM (Select 618842) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977644	NM_004237.4(TRIP13):c.592A>G (p.Ile198Val)	TRIP13 (I198V)	Single nucleotide variant (missense variant)	Oocyte maturation defect 9	GPathogenic
Select item 977642	NM_004237.4(TRIP13):c.518G>A (p.Arg173Gln)	TRIP13 (R173Q)	Single nucleotide variant (missense variant)	Oocyte maturation defect 9	GPathogenic
Select item 977641	NM_004237.4(TRIP13):c.77A>G (p.His26Arg)	TRIP13 (H26R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 3 +1 more	GLikely pathogenic

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