"GeneDx"[submitter] AND "TYR"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 1293219	NC_000011.10:g.89177653C>T	TYR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 3783	NM_000372.4(TYR):c.-199C>A	TYR	Single nucleotide variant	not provided	GBenign
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Abnormality of the skin +18 more	GPathogenic/Likely pathogenic
Select item 99561	NM_000372.5(TYR):c.2T>C (p.Met1Thr)	TYR (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1390436	NM_000372.5(TYR):c.71G>A (p.Cys24Tyr)	TYR (C24Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +2 more	GPathogenic
Select item 255956	NM_000372.5(TYR):c.114G>A (p.Pro38=)	TYR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 449541	NM_000372.5(TYR):c.116G>A (p.Trp39Ter)	TYR (W39*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 620388	NM_000372.5(TYR):c.138T>A (p.Cys46Ter)	TYR (C46*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3794	NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	TYR (G47D)	Single nucleotide variant (missense variant)	Ocular albinism with congenital sensorineural hearing loss +5 more	GPathogenic/Likely pathogenic
Select item 255957	NM_000372.5(TYR):c.178C>T (p.Leu60=)	TYR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 99553	NM_000372.5(TYR):c.229C>T (p.Arg77Trp)	TYR (R77W)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic
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 99556	NM_000372.5(TYR):c.238T>C (p.Trp80Arg)	TYR (W80R)	Single nucleotide variant (missense variant)	TYR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 504389	NM_000372.5(TYR):c.239G>A (p.Trp80Ter)	TYR (W80*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 3772	NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	TYR (P81L)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +7 more	GPathogenic
Select item 1379731	NM_000372.5(TYR):c.255T>A (p.Tyr85Ter)	TYR (Y85*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3788	NM_000372.5(TYR):c.286dup (p.Met96fs)	TYR (M96fs)	Duplication (frameshift variant)	Abnormality of the skin +3 more	GPathogenic/Likely pathogenic
Select item 1442280	NM_000372.5(TYR):c.290G>T (p.Gly97Val)	TYR (G97V)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 99564	NM_000372.5(TYR):c.344_345del (p.Arg115fs)	TYR (R115fs)	Microsatellite (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic
Select item 99565	NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	TYR (R116*)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic
Select item 800539	NM_000372.5(TYR):c.391_393del (p.Lys131del)	TYR (K131del)	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 421753	NM_000372.5(TYR):c.524T>C (p.Leu175Pro)	TYR (L175P)	Single nucleotide variant (missense variant)	not provided	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 99570	NM_000372.5(TYR):c.572del (p.Gly191fs)	TYR (G191fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic
Select item 3340420	NM_000372.5(TYR):c.639CTT[1] (p.Phe214del)	TYR (F214del)	Microsatellite	not provided	GLikely pathogenic
Select item 99574	NM_000372.5(TYR):c.649del (p.Arg217fs)	TYR (R217fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 3795	NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	TYR (R217W)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GConflicting classifications of pathogenicity
Select item 99575	NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	TYR (R217Q)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 449543	NM_000372.5(TYR):c.655G>A (p.Glu219Lys)	TYR (E219K)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic
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 1301877	NM_000372.5(TYR):c.755T>G (p.Met252Arg)	TYR (M252R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 422828	NM_000372.5(TYR):c.803TCT[1] (p.Phe269del)	TYR (F269del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
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 2137232	NM_000372.5(TYR):c.863T>C (p.Leu288Ser)	TYR (L288S)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 1300677	NM_000372.5(TYR):c.864A>T (p.Leu288Phe)	TYR (L288F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1303180	NM_000372.5(TYR):c.865T>C (p.Cys289Arg)	TYR (C289R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 437177	NM_000372.5(TYR):c.880G>A (p.Glu294Lys)	TYR (E294K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 1284359	NM_000372.5(TYR):c.895C>T (p.Arg299Cys)	TYR (R299C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 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 418532	NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	TYR (D305E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +6 more	GConflicting classifications of pathogenicity
Select item 3771	NM_000372.5(TYR):c.929dup (p.Arg311fs)	TYR (R311fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 818005	NM_000372.5(TYR):c.938_939dup (p.Ser314fs)	TYR (S314fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
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 1238697	NM_000372.5(TYR):c.1037-201G>A	TYR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240800	NM_000372.5(TYR):c.1037-175T>C	TYR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270665	NM_000372.5(TYR):c.1037-77T>C	TYR	Single nucleotide variant (intron variant)	not provided	GBenign
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 99526	NM_000372.5(TYR):c.1037-1G>A	TYR	Single nucleotide variant (splice acceptor variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 1362478	NM_000372.5(TYR):c.1046G>C (p.Ser349Thr)	TYR (S349T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99528	NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	TYR (A355P)	Single nucleotide variant (missense variant)	Albinism or congenital nystagmus +3 more	GConflicting classifications of pathogenicity
Select item 1506678	NM_000372.5(TYR):c.1099C>T (p.His367Tyr)	TYR (H367Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 99534	NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr)	TYR (N371Y)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 3774	NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	TYR (T373K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +5 more	GPathogenic
Select item 1803296	NM_000372.5(TYR):c.1130T>C (p.Val377Ala)	TYR (V377A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3786	NM_000372.5(TYR):c.1146C>A (p.Asn382Lys)	TYR (N382K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3775	NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	TYR (D383N)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 1281825	NM_000372.5(TYR):c.1184+50G>A	TYR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230403	NM_000372.5(TYR):c.1184+161T>G	TYR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99541	NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)	TYR (W400L)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic/Likely pathogenic
Select item 99542	NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)	TYR (R402*)	Single nucleotide variant (nonsense)	Abnormality of the skin +4 more	GPathogenic
Select item 3800	NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)	TYR (R403S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1311862	NM_000372.5(TYR):c.1213C>T (p.Arg405Cys)	TYR (R405C)	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 3792	NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)	TYR (G419R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +4 more	GPathogenic
Select item 1193414	NM_000372.5(TYR):c.1259A>G (p.His420Arg)	TYR (H420R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 437987	NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)	TYR (R422W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3782	NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)	TYR (R422Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1435987	NM_000372.5(TYR):c.1291C>A (p.Pro431Thr)	TYR (P431T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3801	NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)	TYR (G446S)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +4 more	GPathogenic
Select item 99548	NM_000372.5(TYR):c.1366+4A>G	TYR	Single nucleotide variant (intron variant)	Oculocutaneous albinism +6 more	GConflicting classifications of pathogenicity
Select item 1259078	NM_000372.5(TYR):c.1367-268T>G	TYR	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 1309026	NM_000372.5(TYR):c.1588T>A (p.Ter530Lys)	TYR	Single nucleotide variant (stop lost)	not provided	GConflicting classifications of pathogenicity

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Items: 78