ClinVar for MedGen (Select 465274) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663906	NM_001492.6(GDF1):c.[1008C>G];[681C>A]			Right atrial isomerism	GLikely pathogenic
Select item 1348662	NM_001492.6(GDF1):c.596T>C (p.Leu199Pro)	GDF1, CERS1 (L199P)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6 +2 more	GUncertain significance
Select item 522570	NM_001492.6(GDF1):c.1090_1092del (p.Met364del)	CERS1, GDF1 (M364del)	Deletion (3 prime UTR variant +1 more)	Right atrial isomerism	GPathogenic
Select item 418232	NM_001492.6(GDF1):c.776_801del (p.Leu259fs)	GDF1, CERS1 (L259fs)	Deletion (3 prime UTR variant +1 more)	Right atrial isomerism +1 more	GLikely pathogenic
Select item 410639	NM_001492.6(GDF1):c.599G>A (p.Gly200Asp)	GDF1, CERS1 (G200D)	Single nucleotide variant (3 prime UTR variant +1 more)	Right atrial isomerism +2 more	GUncertain significance
Select item 65389	NM_001492.6(GDF1):c.909dup (p.Val304fs)	GDF1, CERS1 (V304fs)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 6747	NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	CERS1, GDF1 +1 more (C227*)	Single nucleotide variant (3 prime UTR variant +1 more)	Right atrial isomerism +4 more	GPathogenic/Likely pathogenic

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