"Revvity Omics, Revvity"[submitter] AND "TYR"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434418	NM_000372.5(TYR):c.158G>T (p.Gly53Val)	TYR (G53V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 99554	NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)	TYR	Duplication (inframe_insertion)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 3776	NM_000372.5(TYR):c.230G>A (p.Arg77Gln)	TYR (R77Q)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +5 more	GPathogenic
Select item 1493923	NM_000372.5(TYR):c.308G>T (p.Cys103Phe)	TYR (C103F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 883341	NM_000372.5(TYR):c.454C>T (p.Pro152Ser)	TYR (P152S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1325323	NM_000372.5(TYR):c.530T>A (p.Val177Asp)	TYR (V177D)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 1323729	NM_000372.5(TYR):c.715C>T (p.Arg239Trp)	TYR (R239W)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic
Select item 3787	NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)	TYR	Microsatellite (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic
Select item 2438453	NM_000372.5(TYR):c.797CAT[1] (p.Ser267del)	TYR (S267del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3773	NM_000372.5(TYR):c.823G>T (p.Val275Phe)	TYR (V275F)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism +5 more	GPathogenic
Select item 3796	NM_000372.5(TYR):c.896G>A (p.Arg299His)	TYR (R299H)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic
Select item 379657	NM_000372.5(TYR):c.976C>T (p.Gln326Ter)	TYR (Q326*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1B +3 more	GPathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Albinism or congenital nystagmus +10 more	GPathogenic/Likely pathogenic
Select item 2438452	NM_000372.5(TYR):c.1114G>A (p.Gly372Arg)	TYR (G372R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 2438454	NM_000372.5(TYR):c.1309G>A (p.Asp437Asn)	TYR (D437N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3803	NM_000372.5(TYR):c.1467dup (p.Ala490fs)	TYR (A490fs)	Duplication (frameshift variant)	Oculocutaneous albinism type 1B +4 more	GPathogenic/Likely pathogenic