ClinVar for MedGen (Select 41649) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523483	NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu)	MYCN (P409L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 410969	NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)	NKX2-5 (N291del)	Microsatellite (3 prime UTR variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
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 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 6748	NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr)	CERS1, GDF1 (C267Y)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	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 disorder +2 more	GBenign/Likely benign
Select item 6128	NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	ZFPM2 (E30G)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9 +3 more	GBenign/Likely benign

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