ClinVar for MedGen (Select 472885) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679383	NM_014053.4(FLVCR1):c.323T>C (p.Phe108Ser)	FLVCR1 (F108S)	Single nucleotide variant (missense variant)	Abnormal retinal morphology +1 more	GUncertain significance
Select item 523363	NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	TYR (Y451C)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +10 more	GPathogenic/Likely pathogenic
Select item 445347	NM_020344.4(SLC24A2):c.1802A>G (p.Asn601Ser)	SLC24A2 (N601S +1 more)	Single nucleotide variant (missense variant)	Abnormal retinal morphology +1 more	GBenign/Likely benign
Select item 99310	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	ABCA4 (I156V)	Single nucleotide variant (missense variant)	ABCA4-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 99113	NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	ABCA4 (P68L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 3781	NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	TYR (C89R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +9 more	GPathogenic

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