ClinVar for MedGen (Select 1794223) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336725	NM_198066.4(GNPNAT1):c.382T>C (p.Cys128Arg)	GNPNAT1 (C128R)	Single nucleotide variant (missense variant)	Rhizomelic dysplasia, Ain-Naz type	GUncertain significance
Select item 1302024	NM_198066.4(GNPNAT1):c.226G>A (p.Glu76Lys)	GNPNAT1	Single nucleotide variant (missense variant)	Rhizomelic dysplasia, Ain-Naz type	GPathogenic