ClinVar for MedGen (Select 1616340) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499466	NM_001387263.1(PATL2):c.890del (p.Ala297fs)	PATL2 (A108fs +2 more)	Deletion (frameshift variant)	Oocyte maturation defect 4	GPathogenic
Select item 1326987	NM_001387263.1(PATL2):c.262A>G (p.Met88Val)	PATL2 (M88V)	Single nucleotide variant (missense variant +1 more)	Oocyte maturation defect 4	GBenign
Select item 1324847	NM_001387263.1(PATL2):c.446+1G>C	PATL2	Single nucleotide variant (splice donor variant)	Oocyte maturation defect 4	GLikely pathogenic
Select item 1323414	NM_001387263.1(PATL2):c.1225-2A>G	PATL2	Single nucleotide variant (splice acceptor variant)	Oocyte maturation defect 4	GPathogenic
Select item 549492	NM_001387263.1(PATL2):c.566T>G (p.Leu189Arg)	PATL2 (L189R)	Single nucleotide variant (missense variant +2 more)	Oocyte maturation defect 4	GLikely pathogenic
Select item 549488	NM_001387263.1(PATL2):c.649T>A (p.Tyr217Asn)	PATL2 (Y217N +1 more)	Single nucleotide variant (missense variant +1 more)	Oocyte maturation defect 4	GLikely pathogenic
Select item 444052	NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln)	PATL2 (R280Q +2 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 4	GUncertain significance
Select item 444051	NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr)	PATL2 (I318T +2 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 4	GUncertain significance
Select item 444050	NM_001387263.1(PATL2):c.1224+2T>C	PATL2	Single nucleotide variant (splice donor variant)	Oocyte maturation defect 4	GPathogenic
Select item 444049	NM_001387263.1(PATL2):c.223-14_223-2del	PATL2	Deletion (splice acceptor variant +1 more)	Oocyte maturation defect 4	GPathogenic
Select item 444048	NM_001387263.1(PATL2):c.558T>A (p.Tyr186Ter)	PATL2 (Y186*)	Single nucleotide variant (nonsense +2 more)	Oocyte maturation defect 4	GPathogenic
Select item 444047	NM_001387263.1(PATL2):c.784C>T (p.Arg262Ter)	PATL2 (R262* +2 more)	Single nucleotide variant (nonsense)	Oocyte maturation defect 4	GLikely pathogenic
Select item 444046	NM_001387263.1(PATL2):c.1108G>A (p.Gly370Arg)	PATL2 (G370R +2 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 4	GUncertain significance
Select item 444045	NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter)	LOC130056977, PATL2 (R160*)	Single nucleotide variant (nonsense +1 more)	Oocyte maturation defect 2 +1 more	GLikely pathogenic