"OMIM"[submitter] AND "ZFPM2-AS1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39517	NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met)	ZFPM2, ZFPM2-AS1 (I227M +2 more)	Single nucleotide variant (missense variant)	Double outlet right ventricle	GPathogenic
Select item 156584	NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)	ZFPM2, ZFPM2-AS1 (R260Q +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GPathogenic
Select item 156583	NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg)	ZFPM2, ZFPM2-AS1 (S402R +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GPathogenic
Select item 39518	NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	ZFPM2, ZFPM2-AS1 (M544I +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 6127	NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)	ZFPM2, ZFPM2-AS1 (S657G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 6130	NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	ZFPM2, ZFPM2-AS1 (M703L +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition +2 more	GBenign/Likely benign
Select item 39519	NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu)	LOC126860469, ZFPM2 +1 more (K737E +2 more)	Single nucleotide variant (missense variant)	Double outlet right ventricle	GPathogenic
Select item 6131	NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala)	LOC126860469, ZFPM2 +1 more (T843A +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 3	GPathogenic