ClinVar for MedGen (Select 91034) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804031	NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)	PSMC3 (R304W)	Single nucleotide variant (missense variant)	Microcephaly +11 more	GPathogenic
Select item 523385	NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)	PKD1 (H76Y)	Single nucleotide variant (missense variant)	Abnormal cortical gyration +12 more	GUncertain significance
Select item 495227	NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter)	TBX5 (Y407* +1 more)	Single nucleotide variant (nonsense)	Mitral regurgitation +2 more	GPathogenic
Select item 373443	NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	LOC126859827, TAB2 (R347* +1 more)	Single nucleotide variant (nonsense)	Migraine +5 more	GPathogenic/Likely pathogenic
Select item 268042	46;XY;t(18;20)(q21.1;p11.23)dn		Translocation	Chin with horizontal crease +26 more	GUncertain significance
Select item 267834	46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn		Translocation	Abnormal facial skeleton morphology +18 more	GLikely pathogenic
Select item 13329	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	PTPN11 (Y62D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database

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