"Genetic Services Laboratory, University of Chicago"[submitter] AND "T - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Foveal hypoplasia +18 more	GPathogenic/Likely pathogenic
Select item 1338404	NM_000372.5(TYR):c.26T>C (p.Leu9Pro)	TYR (L9P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 373911	NM_000372.5(TYR):c.74dup (p.Ser26fs)	TYR (S26fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 437174	NM_000372.5(TYR):c.101A>C (p.Glu34Ala)	TYR (E34A)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 3794	NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	TYR (G47D)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +6 more	GPathogenic/Likely pathogenic
Select item 3790	NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	TYR (C55Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +5 more	GPathogenic
Select item 1338375	NM_000372.5(TYR):c.221_222del (p.Val74fs)	TYR (V74fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic
Select item 99554	NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)	TYR	Duplication (inframe_insertion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3776	NM_000372.5(TYR):c.230G>A (p.Arg77Gln)	TYR (R77Q)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic
Select item 3772	NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	TYR (P81L)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 99565	NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	TYR (R116*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +4 more	GPathogenic
Select item 212522	NM_000372.5(TYR):c.446A>G (p.Tyr149Cys)	TYR (Y149C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 437181	NM_000372.5(TYR):c.452T>G (p.Ile151Ser)	TYR (I151S)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 883341	NM_000372.5(TYR):c.454C>T (p.Pro152Ser)	TYR (P152S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 99570	NM_000372.5(TYR):c.572del (p.Gly191fs)	TYR (G191fs)	Deletion (frameshift variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic
Select item 99572	NM_000372.5(TYR):c.613C>A (p.Pro205Thr)	TYR (P205T)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 3791	NM_000372.5(TYR):c.616G>A (p.Ala206Thr)	TYR (A206T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 437182	NM_000372.5(TYR):c.635G>A (p.Arg212Lys)	TYR (R212K)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 99575	NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	TYR (R217Q)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 212523	NM_000372.5(TYR):c.658C>T (p.Gln220Ter)	TYR (Q220*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 212524	NM_000372.5(TYR):c.661G>A (p.Glu221Lys)	TYR (E221K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic/Likely pathogenic
Select item 499705	NM_000372.5(TYR):c.665T>C (p.Ile222Thr)	TYR (I222T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 144106	NM_000372.5(TYR):c.739T>C (p.Cys247Arg)	TYR (C247R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GLikely pathogenic
Select item 437175	NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)	TYR (Y251*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 99582	NM_000372.5(TYR):c.820-3C>G	TYR	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3773	NM_000372.5(TYR):c.823G>T (p.Val275Phe)	TYR (V275F)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic
Select item 437173	NM_000372.5(TYR):c.835T>C (p.Leu279=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +3 more	GBenign/Likely benign
Select item 437176	NM_000372.5(TYR):c.841G>A (p.Glu281Lys)	TYR (E281K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 437177	NM_000372.5(TYR):c.880G>A (p.Glu294Lys)	TYR (E294K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99587	NM_000372.5(TYR):c.895C>A (p.Arg299Ser)	TYR (R299S)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +3 more	GPathogenic
Select item 3796	NM_000372.5(TYR):c.896G>A (p.Arg299His)	TYR (R299H)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +5 more	GPathogenic
Select item 3771	NM_000372.5(TYR):c.929dup (p.Arg311fs)	TYR (R311fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 212525	NM_000372.5(TYR):c.982G>A (p.Glu328Lys)	TYR (E328K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 437179	NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)	TYR (G346*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Ocular albinism +10 more	GPathogenic/Likely pathogenic
Select item 99526	NM_000372.5(TYR):c.1037-1G>A	TYR	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 212520	NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	TYR (A355V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 99532	NM_000372.5(TYR):c.1100A>G (p.His367Arg)	TYR (H367R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3774	NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	TYR (T373K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 99541	NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)	TYR (W400L)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic
Select item 99542	NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)	TYR (R402*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +3 more	GPathogenic
Select item 3779	NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	TYR (R402Q)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +4 more	GConflicting classifications of pathogenicity; other
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 212521	NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)	TYR (P412A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3803	NM_000372.5(TYR):c.1467dup (p.Ala490fs)	TYR (A490fs)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 1336102	NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)	TYR (K503N)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GUncertain significance

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Items: 47