ClinVar for MedGen (Select 43904) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562225	NM_000208.4(INSR):c.3601C>T (p.Arg1201Trp)	INSR (R1201W +1 more)	Single nucleotide variant (missense variant)	Insulin resistance	GPathogenic
Select item 562223	NM_014832.5(TBC1D4):c.3122G>A (p.Arg1041His)	TBC1D4 (R1041H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +17 more	GPathogenic/Likely pathogenic
Select item 523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7 (C571* +4 more)	Single nucleotide variant (nonsense +1 more)	Acanthosis nigricans +14 more	GPathogenic
Select item 267971	46;X;inv(X)(q27q28)		Inversion	Insulin resistance +3 more	GUncertain significance
Select item 14709	NM_000208.4(INSR):c.3540G>A (p.Met1180Ile)	INSR (M1168I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14687	NM_000208.4(INSR):c.3481G>A (p.Ala1161Thr)	INSR (A1149T +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +1 more	GPathogenic

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