LURAP1L-AS1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 362

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001752, LOC130001753 +1005 more	Copy number gain	See cases	GPathogenic
Select item 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001585, LOC130001586 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	AK3, BRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 144686	GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1	LOC130001526, LOC130001527 +247 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001472, LOC130001473 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC130001652, LOC130001653 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 148598	GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1	AK3, BRD10 +256 more	Copy number loss	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001648, LOC130001649 +898 more	Copy number gain	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	SMARCA2, SNAPC3 +290 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC130001569, LOC130001570 +897 more	Copy number gain	See cases	GPathogenic
Select item 57180	GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1	AK3, BRD10 +255 more	Copy number loss	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 59060	GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1	AK3, BRD10 +252 more	Copy number loss	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC130001455, LOC130001456 +280 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001690, LOC130001691 +585 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 57009	GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1	ADAMTSL1, BNC2 +67 more	Copy number loss	See cases	GPathogenic
Select item 144392	GRCh38/hg38 9p23(chr9:10527668-13276053)x3	LOC105375976, LOC121811699 +17 more	Copy number gain	See cases	GPathogenic
Select item 57336	GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1	BNC2, BNC2-AS1 +59 more	Copy number loss	See cases	GPathogenic
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 144956	GRCh38/hg38 9p23(chr9:12196142-12794564)x3	LOC128772329, LOC128772330 +7 more	Copy number gain	See cases	GLikely benign
Select item 149031	GRCh38/hg38 9p23(chr9:12286919-12816767)x3	LOC126860580, LOC128772329 +8 more	Copy number gain	See cases	GUncertain significance
Select item 145651	GRCh38/hg38 9p23(chr9:12387840-12984159)x3	LOC126860580, LOC128772329 +9 more	Copy number gain	See cases	GLikely benign
Select item 153791	GRCh38/hg38 9p23(chr9:12449564-12739193)x1	LOC128772333, LOC128772329 +6 more	Copy number loss	See cases	GUncertain significance
Select item 2997083	NM_000550.3(TYRP1):c.914-17C>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778525	NM_000550.3(TYRP1):c.914-17C>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768158	NM_000550.3(TYRP1):c.914-16C>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651690	NM_000550.3(TYRP1):c.914-16C>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017092	NM_000550.3(TYRP1):c.914-9T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1373319	NM_000550.3(TYRP1):c.914-5_914-3del	LURAP1L-AS1, TYRP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2030800	NM_000550.3(TYRP1):c.914-5T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 731277	NM_000550.3(TYRP1):c.914-4G>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2040831	NM_000550.3(TYRP1):c.914G>T (p.Ser305Ile)	LURAP1L-AS1, TYRP1 (S305I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051144	NM_000550.3(TYRP1):c.915C>G (p.Ser305Arg)	LURAP1L-AS1, TYRP1 (S305R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 364855	NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser)	TYRP1, LURAP1L-AS1 (T306S)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 1536411	NM_000550.3(TYRP1):c.918C>T (p.Thr306=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152054	NM_000550.3(TYRP1):c.919G>A (p.Glu307Lys)	LURAP1L-AS1, TYRP1 (E307K)	Single nucleotide variant (missense variant)	TYRP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3336859	NM_000550.3(TYRP1):c.923_927dup (p.Pro310fs)	LURAP1L-AS1, TYRP1 (P310fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1438949	NM_000550.3(TYRP1):c.923A>C (p.Asp308Ala)	LURAP1L-AS1, TYRP1 (D308A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1060357	NM_000550.3(TYRP1):c.923A>G (p.Asp308Gly)	LURAP1L-AS1, TYRP1 (D308G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993195	NM_000550.3(TYRP1):c.927del (p.Pro310fs)	LURAP1L-AS1, TYRP1 (P310fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 912541	NM_000550.3(TYRP1):c.926G>A (p.Gly309Glu)	LURAP1L-AS1, TYRP1 (G309E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 2999298	NM_000550.3(TYRP1):c.927G>T (p.Gly309=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481646	NM_000550.3(TYRP1):c.931A>G (p.Ile311Val)	LURAP1L-AS1, TYRP1 (I311V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 912542	NM_000550.3(TYRP1):c.933T>C (p.Ile311=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2759530	NM_000550.3(TYRP1):c.936G>A (p.Arg312=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948667	NM_000550.3(TYRP1):c.936G>C (p.Arg312Ser)	LURAP1L-AS1, TYRP1 (R312S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480522	NM_000550.3(TYRP1):c.946G>C (p.Ala316Pro)	LURAP1L-AS1, TYRP1 (A316P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500484	NM_000550.3(TYRP1):c.947C>A (p.Ala316Asp)	LURAP1L-AS1, TYRP1 (A316D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038810	NM_000550.3(TYRP1):c.951_952delinsTC (p.Asn318His)	LURAP1L-AS1, TYRP1 (N318H)	Indel (missense variant)	not provided	GUncertain significance
Select item 1364776	NM_000550.3(TYRP1):c.955G>A (p.Val319Met)	LURAP1L-AS1, TYRP1 (V319M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916814	NM_000550.3(TYRP1):c.964C>T (p.Pro322Ser)	LURAP1L-AS1, TYRP1 (P322S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879399	NM_000550.3(TYRP1):c.975A>G (p.Gln325=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181733	NM_000550.3(TYRP1):c.976C>T (p.Arg326Cys)	LURAP1L-AS1, TYRP1 (R326C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 437183	NM_000550.3(TYRP1):c.977G>A (p.Arg326His)	LURAP1L-AS1, TYRP1 (R326H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1479348	NM_000550.3(TYRP1):c.982C>G (p.Pro328Ala)	LURAP1L-AS1, TYRP1 (P328A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725385	NM_000550.3(TYRP1):c.984T>C (p.Pro328=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956109	NM_000550.3(TYRP1):c.996T>C (p.Asp332=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766098	NM_000550.3(TYRP1):c.997_998del (p.Val333fs)	LURAP1L-AS1, TYRP1 (V333fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3023912	NM_000550.3(TYRP1):c.999C>T (p.Val333=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096190	NM_000550.3(TYRP1):c.1000G>T (p.Ala334Ser)	LURAP1L-AS1, TYRP1 (A334S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819192	NM_000550.3(TYRP1):c.1002T>A (p.Ala334=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634272	NM_000550.3(TYRP1):c.1002T>C (p.Ala334=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349173	NM_000550.3(TYRP1):c.1004A>C (p.Gln335Pro)	LURAP1L-AS1, TYRP1 (Q335P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477129	NM_000550.3(TYRP1):c.1024T>C (p.Phe342Leu)	LURAP1L-AS1, TYRP1 (F342L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 364856	NM_000550.3(TYRP1):c.1029C>T (p.Asp343=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 3 +2 more	GConflicting classifications of pathogenicity
Select item 1628244	NM_000550.3(TYRP1):c.1032G>A (p.Thr344=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702870	NM_000550.3(TYRP1):c.1035T>G (p.Pro345=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1215523	NM_000550.3(TYRP1):c.1037C>G (p.Pro346Arg)	LURAP1L-AS1, TYRP1 (P346R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1953227	NM_000550.3(TYRP1):c.1054A>G (p.Thr352Ala)	LURAP1L-AS1, TYRP1 (T352A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17598	NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)	LURAP1L-AS1, TYRP1 (N353fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 3 +2 more	GPathogenic

<< First< Prev

Page of 4