ClinVar for MedGen (Select 4435) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 631491	NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)	CDK8 (S62*)	Single nucleotide variant (nonsense +1 more)	Heart, malformation of +6 more	GPathogenic
Select item 559395	Single allele	CEP85L, PLN	Duplication	Ebstein anomaly +2 more	GUncertain significance
Select item 268042	46;XY;t(18;20)(q21.1;p11.23)dn		Translocation	Chin with horizontal crease +26 more	GUncertain significance
Select item 42968	NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del)	MYH7 (E1220del)	Deletion (inframe_deletion)	Ebstein anomaly	GUncertain significance FDA Recognized database

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