ClinVar for MedGen (Select 334420) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430197	NM_006744.4(RBP4):c.358G>T (p.Asp120Tyr)	RBP4 (D118Y +1 more)	Single nucleotide variant (missense variant)	Bilateral microphthalmos	GLikely pathogenic
Select item 1727217	NM_004491.5(ARHGAP35):c.1849C>T (p.Arg617Ter)	ARHGAP35 (R617*)	Single nucleotide variant (nonsense)	Bilateral microphthalmos	GPathogenic
Select item 1341682	NM_004431.5(EPHA2):c.41G>A (p.Trp14Ter)	EPHA2, EPHA2-AS1 (W14*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bilateral microphthalmos +2 more	GPathogenic
Select item 996741	NM_012233.3(RAB3GAP1):c.151-5T>G	RAB3GAP1	Single nucleotide variant (intron variant)	Cleft palate +17 more	GPathogenic
Select item 374068	NM_000165.5(GJA1):c.440T>C (p.Met147Thr)	GJA1 (M147T)	Single nucleotide variant (missense variant)	Cutaneous finger syndactyly +3 more	GPathogenic
Select item 192377	NM_006744.4(RBP4):c.217G>A (p.Ala73Thr)	RBP4 (A73T +1 more)	Single nucleotide variant (missense variant)	Bilateral microphthalmos	GPathogenic

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