7306[Gene ID] - ClinVar - NCBI

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	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 364844	NM_000550.3(TYRP1):c.-167G>A	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364845	NM_000550.3(TYRP1):c.-161G>T	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GBenign
Select item 364846	NM_000550.3(TYRP1):c.-119G>T	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 913602	NM_000550.3(TYRP1):c.-111T>C	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364847	NM_000550.3(TYRP1):c.-70C>T	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 913603	NM_000550.3(TYRP1):c.-69G>A	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364848	NM_000550.3(TYRP1):c.-69G>T	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364849	NM_000550.3(TYRP1):c.-15C>G	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364850	NM_000550.3(TYRP1):c.-6A>G	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 2714033	NM_000550.3(TYRP1):c.3G>T (p.Met1Ile)	TYRP1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2818416	NM_000550.3(TYRP1):c.6T>C (p.Ser2=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096557	NM_000550.3(TYRP1):c.8C>T (p.Ala3Val)	TYRP1 (A3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001678	NM_000550.3(TYRP1):c.9T>C (p.Ala3=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482767	NM_000550.3(TYRP1):c.11C>T (p.Pro4Leu)	TYRP1 (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747577	NM_000550.3(TYRP1):c.21C>A (p.Leu7=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734612	NM_000550.3(TYRP1):c.21C>G (p.Leu7=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1966698	NM_000550.3(TYRP1):c.22T>A (p.Ser8Thr)	TYRP1 (S8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348424	NM_000550.3(TYRP1):c.23C>T (p.Ser8Phe)	TYRP1 (S8F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463147	NM_000550.3(TYRP1):c.28G>C (p.Gly10Arg)	TYRP1 (G10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002532	NM_000550.3(TYRP1):c.35T>G (p.Ile12Ser)	TYRP1 (I12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495710	NM_000550.3(TYRP1):c.43C>A (p.Pro15Thr)	TYRP1 (P15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039284	NM_000550.3(TYRP1):c.46T>A (p.Leu16Met)	TYRP1 (L16M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771899	NM_000550.3(TYRP1):c.48del (p.Leu16fs)	TYRP1 (L16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1517924	NM_000550.3(TYRP1):c.48G>T (p.Leu16Phe)	TYRP1 (L16F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 913604	NM_000550.3(TYRP1):c.67C>T (p.Arg23Trp)	TYRP1 (R23W)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GLikely benign
Select item 1424926	NM_000550.3(TYRP1):c.68G>A (p.Arg23Gln)	TYRP1 (R23Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 364851	NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr)	TYRP1 (A24T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2076670	NM_000550.3(TYRP1):c.72T>C (p.Ala24=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815452	NM_000550.3(TYRP1):c.73C>T (p.Gln25Ter)	TYRP1 (Q25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1411359	NM_000550.3(TYRP1):c.80C>G (p.Pro27Arg)	TYRP1 (P27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1069699	NM_000550.3(TYRP1):c.82del (p.Arg28fs)	TYRP1 (R28fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1924484	NM_000550.3(TYRP1):c.83G>T (p.Arg28Ile)	TYRP1 (R28I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299137	NM_000550.3(TYRP1):c.87G>C (p.Gln29His)	TYRP1 (Q29H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3336274	NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)	TYRP1 (C30R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GLikely pathogenic
Select item 1334516	NM_000550.3(TYRP1):c.92C>G (p.Ala31Gly)	TYRP1 (A31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422251	NM_000550.3(TYRP1):c.97G>T (p.Val33Phe)	TYRP1 (V33F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735636	NM_000550.3(TYRP1):c.98T>C (p.Val33Ala)	TYRP1 (V33A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 17597	NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer)	TYRP1	Deletion (nonsense)	Oculocutaneous albinism type 3	GPathogenic
Select item 3330432	NM_000550.3(TYRP1):c.106T>A (p.Leu36Met)	TYRP1 (L36M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914001	NM_000550.3(TYRP1):c.114T>A (p.Ser38Arg)	TYRP1 (S38R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2610287	NM_000550.3(TYRP1):c.115G>C (p.Gly39Arg)	TYRP1 (G39R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2745242	NM_000550.3(TYRP1):c.118A>T (p.Met40Leu)	TYRP1 (M40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761748	NM_000550.3(TYRP1):c.126C>T (p.Cys42=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967106	NM_000550.3(TYRP1):c.135G>C (p.Leu45=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1063551	NM_000550.3(TYRP1):c.136T>A (p.Ser46Thr)	TYRP1 (S46T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505762	NM_000550.3(TYRP1):c.137C>G (p.Ser46Cys)	TYRP1 (S46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775921	NM_000550.3(TYRP1):c.138C>A (p.Ser46=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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