ClinVar for MedGen (Select 1841054) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498075	NM_001145715.3(KPNA7):c.1350_1356del (p.Leu450_Cys451insTer)	KPNA7	Deletion (frameshift variant)	Oocyte/zygote/embryo maturation arrest 17	GPathogenic
Select item 2498074	NM_001145715.3(KPNA7):c.523C>A (p.Gln175Lys)	KPNA7 (Q175K)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 17	GPathogenic
Select item 1408498	NM_001145715.3(KPNA7):c.635C>T (p.Pro212Leu)	KPNA7 (P212L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371946	NM_001145715.3(KPNA7):c.73C>T (p.Arg25Ter)	KPNA7 (R25*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 698260	NM_001145715.3(KPNA7):c.607C>T (p.Leu203Phe)	KPNA7 (L203F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 665529	NM_001145715.3(KPNA7):c.1506C>A (p.Asp502Glu)	KPNA7 (D502E)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 17 +1 more	GUncertain significance
Select item 659082	NM_001145715.3(KPNA7):c.454G>A (p.Val152Met)	KPNA7 (V152M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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