C5830539[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502329	NM_005372.1(MOS):c.960C>A (p.Cys320Ter)	MOS (C320*)	Single nucleotide variant (nonsense)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502331	NM_005372.1(MOS):c.956G>A (p.Arg319His)	MOS (R319H)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502328	NM_005372.1(MOS):c.875C>T (p.Ala292Val)	MOS (A292V)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502332	NM_005372.1(MOS):c.791C>G (p.Ser264Cys)	MOS (S264C)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502327	NM_005372.1(MOS):c.737G>A (p.Arg246His)	MOS (R246H)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502333	NM_005372.1(MOS):c.596A>T (p.His199Leu)	MOS (H199L)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502334	NM_005372.1(MOS):c.591T>G (p.Ile197Met)	MOS (I197M)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502330	NM_005372.1(MOS):c.467del (p.Gly156fs)	MOS (G156fs)	Deletion (frameshift variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502326	NM_005372.1(MOS):c.416T>C (p.Met139Thr)	MOS (M139T)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502325	NM_005372.1(MOS):c.285C>A (p.Asn95Lys)	MOS (N95K)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic