ClinVar for MedGen (Select 767507) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1277035	NM_006744.4(RBP4):c.356-25G>C	RBP4	Single nucleotide variant (intron variant)	Microphthalmia, isolated, with coloboma 10 +2 more	GBenign
Select item 976725	NM_006744.4(RBP4):c.526G>T (p.Glu176Ter)	RBP4 (E174* +1 more)	Single nucleotide variant (nonsense)	Progressive retinal dystrophy due to retinol transport defect	GPathogenic
Select item 931422	NM_006744.4(RBP4):c.355+123T>G	RBP4	Single nucleotide variant (intron variant)	Progressive retinal dystrophy due to retinol transport defect +1 more	GBenign
Select item 931421	NM_006744.4(RBP4):c.109C>G (p.Arg37Gly)	RBP4 (R35G +1 more)	Single nucleotide variant (missense variant)	Progressive retinal dystrophy due to retinol transport defect +1 more	GUncertain significance
Select item 41423	NM_006744.4(RBP4):c.111+1G>A	RBP4	Single nucleotide variant (splice donor variant)	Progressive retinal dystrophy due to retinol transport defect	GPathogenic
Select item 13068	NM_006744.4(RBP4):c.278G>A (p.Gly93Asp)	RBP4, FFAR4 (G93D +1 more)	Single nucleotide variant (missense variant)	Progressive retinal dystrophy due to retinol transport defect	GLikely pathogenic
Select item 13067	NM_006744.4(RBP4):c.176T>A (p.Ile59Asn)	FFAR4, RBP4 (I59N +1 more)	Single nucleotide variant (missense variant)	Progressive retinal dystrophy due to retinol transport defect +1 more	GConflicting classifications of pathogenicity

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