"Institute of Human Genetics, Medical University Innsbruck"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65389	NM_001492.6(GDF1):c.909dup (p.Val304fs)	CERS1, GDF1 (V304fs)	Duplication (3 prime UTR variant +1 more)	Right atrial isomerism +2 more	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 +3 more	GPathogenic/Likely pathogenic