ClinVar for MedGen (Select 1648307) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1214011	NM_020401.4(NUP107):c.1064G>A (p.Arg355His)	NUP107 (R326H +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 6	GLikely pathogenic
Select item 774484	NM_020401.4(NUP107):c.353G>A (p.Arg118His)	NUP107 (R118H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely benign
Select item 559482	NM_020401.4(NUP107):c.1339G>A (p.Asp447Asn)	NUP107 (D447N +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 6	GPathogenic

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