C0078918[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 353210	NM_016180.4(SLC45A2):c.*29C>G	SLC45A2	Single nucleotide variant	Oculocutaneous albinism	GUncertain significance
Select item 353216	NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)	SLC45A2 (E359fs)	Microsatellite (frameshift variant +1 more)	Oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 353224	NM_014324.6(AMACR):c.*1961G>A	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Oculocutaneous albinism +1 more	GLikely benign
Select item 353237	NM_014324.6(AMACR):c.*1144A>G	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Oculocutaneous albinism +1 more	GLikely benign
Select item 353238	NM_014324.6(AMACR):c.*1070C>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 353239	NM_014324.6(AMACR):c.*982C>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Oculocutaneous albinism +2 more	GLikely benign
Select item 353241	NM_014324.6(AMACR):c.*963C>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 353244	NM_014324.6(AMACR):c.*663G>A	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +3 more	GBenign/Likely benign
Select item 353245	NM_014324.6(AMACR):c.*617G>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +3 more	GBenign/Likely benign
Select item 353250	NM_014324.6(AMACR):c.*227T>G	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 128360	NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)	AMACR, C1QTNF3-AMACR +1 more (E277K)	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +3 more	GBenign
Select item 364863	NM_000550.3(TYRP1):c.*294AAGT[1]	LURAP1L-AS1, TYRP1	Microsatellite (3 prime UTR variant)	Oculocutaneous albinism	GBenign
Select item 364864	NM_000550.3(TYRP1):c.319_320dup	LURAP1L-AS1, TYRP1	Duplication (3 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 364867	NM_000550.3(TYRP1):c.*468ATTA[1]	LURAP1L-AS1, TYRP1	Microsatellite (3 prime UTR variant)	Oculocutaneous albinism	GBenign
Select item 364874	NM_000550.3(TYRP1):c.*955dup	LURAP1L-AS1, TYRP1	Duplication (3 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 306441	NM_000372.5(TYR):c.-41A>G	TYR	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 306442	NM_000372.5(TYR):c.-37G>A	TYR	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 882561	NM_000372.5(TYR):c.67G>A (p.Ala23Thr)	TYR (A23T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GUncertain significance
Select item 255956	NM_000372.5(TYR):c.114G>A (p.Pro38=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 3790	NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	TYR (C55Y)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 255957	NM_000372.5(TYR):c.178C>T (p.Leu60=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +2 more	GBenign
Select item 306443	NM_000372.5(TYR):c.191C>T (p.Pro64Leu)	TYR (P64L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GUncertain significance
Select item 306444	NM_000372.5(TYR):c.194T>C (p.Leu65Pro)	TYR (L65P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3772	NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	TYR (P81L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +7 more	GPathogenic
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 883342	NM_000372.5(TYR):c.464C>T (p.Thr155Ile)	TYR (T155I)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GUncertain significance
Select item 288251	NM_000372.5(TYR):c.504C>T (p.Asn168=)	TYR	Single nucleotide variant (synonymous variant)	TYR-related condition +3 more	GConflicting classifications of pathogenicity
Select item 785373	NM_000372.5(TYR):c.573A>G (p.Gly191=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 3778	NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	TYR (S192Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 99575	NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	TYR (R217Q)	Single nucleotide variant (missense variant)	not provided +3 more	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 631668	NM_000372.5(TYR):c.705T>G (p.Tyr235Ter)	TYR (Y235*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism	GUncertain significance
Select item 3773	NM_000372.5(TYR):c.823G>T (p.Val275Phe)	TYR (V275F)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +5 more	GPathogenic/Likely pathogenic
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +6 more	GPathogenic
Select item 880976	NM_000372.5(TYR):c.833G>A (p.Arg278Gln)	TYR (R278Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 437173	NM_000372.5(TYR):c.835T>C (p.Leu279=)	TYR	Single nucleotide variant (synonymous variant)	TYR-related condition +3 more	GBenign/Likely benign
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 880977	NM_000372.5(TYR):c.978A>G (p.Gln326=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 585280	NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)	TYR (Y327C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Tyrosinase-negative oculocutaneous albinism +10 more	GPathogenic/Likely pathogenic
Select item 880978	NM_000372.5(TYR):c.1044T>C (p.Ala348=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
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 882339	NM_000372.5(TYR):c.1065G>A (p.Ala355=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +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)	Oculocutaneous albinism +6 more	GPathogenic
Select item 596458	NM_000372.5(TYR):c.1161T>C (p.Leu387=)	TYR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882340	NM_000372.5(TYR):c.1214G>A (p.Arg405His)	TYR (R405H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	TYR-related condition +8 more	GPathogenic/Likely pathogenic
Select item 306445	NM_000372.5(TYR):c.1270T>A (p.Ser424Thr)	TYR (S424T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GUncertain significance
Select item 882341	NM_000372.5(TYR):c.1307G>C (p.Gly436Ala)	TYR (G436A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 882342	NM_000372.5(TYR):c.1396T>G (p.Ser466Ala)	TYR (S466A)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GUncertain significance
Select item 499569	NM_000372.5(TYR):c.1446G>C (p.Ala482=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +2 more	GUncertain significance
Select item 882608	NM_000372.5(TYR):c.1525G>A (p.Glu509Lys)	TYR (E509K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GUncertain significance
Select item 306446	NM_000372.5(TYR):c.*230G>A	TYR	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 960	NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	OCA2 (W679C +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 315465	NM_000275.3(OCA2):c.1504-12_1504-9del	OCA2	Deletion (intron variant)	Oculocutaneous albinism	GUncertain significance
Select item 961	NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	OCA2 (N489D +1 more)	Single nucleotide variant (missense variant)	OCA2-related condition +4 more	GPathogenic/Likely pathogenic
Select item 373910	NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	OCA2 (Y342C)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +4 more	GConflicting classifications of pathogenicity
Select item 341016	NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)	HPS4 (T251S +2 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome +4 more	GConflicting classifications of pathogenicity

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Items: 59