ClinVar for MedGen (Select 1616382) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805254	NM_004237.4(TRIP13):c.759+1G>T	TRIP13	Single nucleotide variant (splice donor variant)	Mosaic variegated aneuploidy syndrome 3	GUncertain significance
Select item 1805147	NM_004237.4(TRIP13):c.1016T>C (p.Met339Thr)	TRIP13 (M339T)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 3	GUncertain significance
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 1031392	NM_004237.4(TRIP13):c.712G>A (p.Asp238Asn)	TRIP13 (D238N)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 3	GUncertain significance
Select item 431046	NM_004237.4(TRIP13):c.673-1G>C	TRIP13	Single nucleotide variant (splice acceptor variant)	Mosaic variegated aneuploidy syndrome 3	GPathogenic
Select item 431045	NM_004237.4(TRIP13):c.1060C>T (p.Arg354Ter)	TRIP13 (R354*)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 3	GPathogenic

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