ClinVar for MedGen (Select 816689) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1246783	NM_019851.3(FGF20):c.144G>C (p.Ala48=)	FGF20, LOC129999926	Single nucleotide variant (synonymous variant)	Renal hypodysplasia/aplasia 2 +1 more	GBenign
Select item 802391	NM_019851.3(FGF20):c.391-1G>A	FGF20	Single nucleotide variant (splice acceptor variant)	Renal hypodysplasia/aplasia 2	GLikely pathogenic
Select item 126502	NM_019851.3(FGF20):c.337del (p.Val113fs)	FGF20 (V113fs)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 2	GPathogenic

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