"Reproductive Development, Murdoch Childrens Research Institute"[submi - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6128	NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	ZFPM2 (E30G)	Single nucleotide variant (5 prime UTR variant +2 more)	ZFPM2-related condition +3 more	GBenign/Likely benign
Select item 240844	NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn)	ZFPM2 (D98N +1 more)	Single nucleotide variant (missense variant +1 more)	ZFPM2-related condition +2 more	GBenign/Likely benign
Select item 260179	NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr)	ZFPM2, ZFPM2-AS1 (S210T +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +2 more	GBenign/Likely benign
Select item 805892	NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val)	ZFPM2, ZFPM2-AS1 (L203V +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GBenign
Select item 805891	NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys)	ZFPM2, ZFPM2-AS1 (E287K +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GBenign
Select item 805890	NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile)	ZFPM2, ZFPM2-AS1 (V406I +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +1 more	GLikely benign
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 805893	NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn)	ZFPM2-AS1, ZFPM2 (K458N +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GBenign
Select item 805894	NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del)	ZFPM2, ZFPM2-AS1 (L475del +2 more)	Deletion (inframe_deletion)	46,XY sex reversal 9	GUncertain significance
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