ClinVar for MedGen (Select 12145) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267971	46;X;inv(X)(q27q28)		Inversion	Insulin resistance +3 more	GUncertain significance
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome +16 more	GPathogenic/Likely pathogenic