ClinVar for MedGen (Select 1845825) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065056	NM_001100427.2(RAP1GDS1):c.1300+1G>A	RAP1GDS1	Single nucleotide variant (splice donor variant)	Alfadhel syndrome	GUncertain significance
Select item 2671875	NM_001100427.2(RAP1GDS1):c.80del (p.Leu27fs)	RAP1GDS1 (L27fs +1 more)	Deletion (frameshift variant)	Alfadhel syndrome	GPathogenic
Select item 1334172	NM_001100427.2(RAP1GDS1):c.1441-1G>A	RAP1GDS1	Single nucleotide variant (splice acceptor variant)	Alfadhel syndrome	GPathogenic

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