ClinVar for MedGen (Select 78558) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 492756	NM_000325.6(PITX2):c.307C>T (p.Gln103Ter)	PITX2 (Q50* +2 more)	Single nucleotide variant (nonsense)	Rieger anomaly	GPathogenic
Select item 268022	46;XY;t(2;4)(p23;q27)dn		Translocation	Global developmental delay +1 more	GLikely pathogenic
Select item 221949	NM_025074.7(FRAS1):c.3700G>A (p.Ala1234Thr)	FRAS1 (A1234T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 221948	NM_001079520.2(DACT1):c.1899G>C (p.Lys633Asn)	DACT1 (K670N +1 more)	Single nucleotide variant (missense variant +1 more)	Rieger anomaly	GLikely benign
Select item 221947	NM_024533.4(CHST5):c.737T>C (p.Ile246Thr)	CHST5	Single nucleotide variant	Rieger anomaly	GLikely benign
Select item 132738	NM_000264.5(PTCH1):c.3889C>T (p.Arg1297Trp)	PTCH1 (R1231W +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 132723	NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)	PTCH1 (Y1250C +4 more)	Single nucleotide variant (missense variant +1 more)	Rieger anomaly +5 more	GConflicting classifications of pathogenicity
Select item 30767	NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)	FREM1 (R498Q)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +3 more	GConflicting classifications of pathogenicity

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