ClinVar for MedGen (Select 1683744) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 505688	NM_176787.5(PIGN):c.674+1G>A	PIGN	Single nucleotide variant (splice donor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely pathogenic
Select item 264637	NM_176787.5(PIGN):c.548_549+6del	PIGN	Deletion (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic