ClinVar for MedGen (Select 116013) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301878	NM_000372.5(TYR):c.[1205G>A;575C>A]	TYR (S192Y +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GLikely pathogenic
Select item 559443	NM_006295.3(VARS1):c.3214T>C (p.Phe1072Leu)	VARS1 (F1072L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +7 more	GConflicting classifications of pathogenicity
Select item 559442	NM_006295.3(VARS1):c.65C>A (p.Ala22Asp)	VARS1 (A22D)	Single nucleotide variant (missense variant)	Generalized hypotonia +5 more	GUncertain significance
Select item 523490	NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)	NRL (E156fs +1 more)	Duplication (frameshift variant)	not provided +6 more	GUncertain significance
Select item 99562	NM_000372.5(TYR):c.325G>A (p.Gly109Arg)	TYR (G109R)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +9 more	GPathogenic/Likely pathogenic
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 1B +18 more	GPathogenic/Likely pathogenic
Select item 3779	NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	TYR (R402Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity; other

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