ClinVar for MedGen (Select 1724427) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1241500	NM_004237.4(TRIP13):c.608+39T>G	TRIP13	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1225568	NM_004237.4(TRIP13):c.258+48del	TRIP13	Deletion (intron variant)	Oocyte maturation defect 9 +2 more	GBenign
Select item 977645	NM_004237.4(TRIP13):c.739G>A (p.Val247Met)	TRIP13 (V247M)	Single nucleotide variant (missense variant)	Oocyte maturation defect 9	GPathogenic
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 977643	NM_004237.4(TRIP13):c.907G>A (p.Glu303Lys)	TRIP13 (E303K)	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)	Oocyte maturation defect 9	GPathogenic

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