9853[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 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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 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 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 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 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	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 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001690, LOC130001691 +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001818, LOC130001819 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	LOC129662434, LOC130001682 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 1952680	NM_014806.5(RUSC2):c.14C>A (p.Pro5Gln)	RUSC2 (P5Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2960578	NM_014806.5(RUSC2):c.15A>G (p.Pro5=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1959306	NM_014806.5(RUSC2):c.24T>G (p.Thr8=)	RUSC2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1566943	NM_014806.5(RUSC2):c.39C>T (p.Ile13=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2754189	NM_014806.5(RUSC2):c.55C>T (p.Leu19=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1027723	NM_014806.5(RUSC2):c.61C>T (p.His21Tyr)	RUSC2 (H21Y)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 61 +1 more	GUncertain significance
Select item 1995239	NM_014806.5(RUSC2):c.62A>T (p.His21Leu)	RUSC2 (H21L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1461967	NM_014806.5(RUSC2):c.63C>A (p.His21Gln)	RUSC2 (H21Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1475778	NM_014806.5(RUSC2):c.70G>A (p.Val24Ile)	RUSC2 (V24I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1483782	NM_014806.5(RUSC2):c.71T>C (p.Val24Ala)	RUSC2 (V24A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2084955	NM_014806.5(RUSC2):c.84G>T (p.Gln28His)	RUSC2 (Q28H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2127041	NM_014806.5(RUSC2):c.86G>A (p.Cys29Tyr)	RUSC2 (C29Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1930576	NM_014806.5(RUSC2):c.88T>C (p.Cys30Arg)	RUSC2 (C30R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1917004	NM_014806.5(RUSC2):c.94G>C (p.Gly32Arg)	RUSC2 (G32R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1387034	NM_014806.5(RUSC2):c.95G>A (p.Gly32Glu)	RUSC2 (G32E)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1944549	NM_014806.5(RUSC2):c.98C>T (p.Ala33Val)	RUSC2 (A33V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1399571	NM_014806.5(RUSC2):c.106G>A (p.Gly36Ser)	RUSC2 (G36S)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1027718	NM_014806.5(RUSC2):c.119C>A (p.Thr40Lys)	RUSC2 (T40K)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1900766	NM_014806.5(RUSC2):c.135C>T (p.Phe45=)	RUSC2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1442821	NM_014806.5(RUSC2):c.142C>T (p.Pro48Ser)	RUSC2 (P48S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1375096	NM_014806.5(RUSC2):c.152G>C (p.Gly51Ala)	RUSC2 (G51A)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1389209	NM_014806.5(RUSC2):c.154A>C (p.Ile52Leu)	RUSC2 (I52L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2001479	NM_014806.5(RUSC2):c.156C>T (p.Ile52=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1533825	NM_014806.5(RUSC2):c.165C>T (p.Pro55=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1445683	NM_014806.5(RUSC2):c.170A>T (p.Gln57Leu)	RUSC2 (Q57L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2659176	NM_014806.5(RUSC2):c.174C>T (p.Asp58=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1595240	NM_014806.5(RUSC2):c.177A>G (p.Leu59=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1613776	NM_014806.5(RUSC2):c.180A>G (p.Gly60=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2874342	NM_014806.5(RUSC2):c.183A>G (p.Gln61=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1374934	NM_014806.5(RUSC2):c.184G>C (p.Ala62Pro)	RUSC2 (A62P)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1953155	NM_014806.5(RUSC2):c.187G>A (p.Asp63Asn)	RUSC2 (D63N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1353788	NM_014806.5(RUSC2):c.189C>G (p.Asp63Glu)	RUSC2 (D63E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1652489	NM_014806.5(RUSC2):c.192C>T (p.Ser64=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2174397	NM_014806.5(RUSC2):c.198A>G (p.Leu66=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1634331	NM_014806.5(RUSC2):c.216_217delinsCG (p.Thr73Ala)	RUSC2 (T73A)	Indel (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1600641	NM_014806.5(RUSC2):c.217= (p.Thr73=)	RUSC2	Variation (intron variant +2 more)	not provided	GBenign
Select item 1327976	NM_014806.5(RUSC2):c.217A>G (p.Thr73Ala)	RUSC2 (T73A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign
Select item 2178110	NM_014806.5(RUSC2):c.222A>G (p.Pro74=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1924032	NM_014806.5(RUSC2):c.235C>T (p.Arg79Trp)	RUSC2 (R79W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1447733	NM_014806.5(RUSC2):c.236G>A (p.Arg79Gln)	RUSC2 (R79Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1958339	NM_014806.5(RUSC2):c.242T>C (p.Ile81Thr)	RUSC2 (I81T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1590746	NM_014806.5(RUSC2):c.246C>T (p.Asp82=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1999887	NM_014806.5(RUSC2):c.250A>C (p.Thr84Pro)	RUSC2 (T84P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1580012	NM_014806.5(RUSC2):c.252C>G (p.Thr84=)	RUSC2	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 3058679	NM_014806.5(RUSC2):c.258T>C (p.Ser86=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	RUSC2-related disorder	GLikely benign
Select item 1539684	NM_014806.5(RUSC2):c.265C>A (p.Arg89=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1411140	NM_014806.5(RUSC2):c.265C>T (p.Arg89Trp)	RUSC2 (R89W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1930112	NM_014806.5(RUSC2):c.275G>A (p.Arg92Lys)	RUSC2 (R92K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1439860	NM_014806.5(RUSC2):c.277G>A (p.Gly93Ser)	RUSC2 (G93S)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1406325	NM_014806.5(RUSC2):c.281C>A (p.Pro94His)	RUSC2 (P94H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1461547	NM_014806.5(RUSC2):c.286G>A (p.Ala96Thr)	RUSC2 (A96T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1513467	NM_014806.5(RUSC2):c.293A>G (p.Lys98Arg)	RUSC2 (K98R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2106590	NM_014806.5(RUSC2):c.295C>T (p.Arg99Ter)	RUSC2 (R99*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1513362	NM_014806.5(RUSC2):c.299A>T (p.His100Leu)	RUSC2 (H100L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2907649	NM_014806.5(RUSC2):c.300C>T (p.His100=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1553129	NM_014806.5(RUSC2):c.303C>T (p.Asn101=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2824519	NM_014806.5(RUSC2):c.314_317dup (p.Gln106fs)	RUSC2 (Q106fs)	Duplication (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2413313	NM_014806.5(RUSC2):c.320A>G (p.Glu107Gly)	RUSC2 (E107G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2125169	NM_014806.5(RUSC2):c.341T>G (p.Leu114Arg)	RUSC2 (L114R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 598474	NM_014806.5(RUSC2):c.347A>T (p.Asp116Val)	RUSC2 (D116V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1630367	NM_014806.5(RUSC2):c.351G>A (p.Leu117=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1358397	NM_014806.5(RUSC2):c.358G>T (p.Asp120Tyr)	RUSC2 (D120Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1618590	NM_014806.5(RUSC2):c.360C>T (p.Asp120=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1466548	NM_014806.5(RUSC2):c.365T>C (p.Ile122Thr)	RUSC2 (I122T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2715200	NM_014806.5(RUSC2):c.366T>C (p.Ile122=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1913511	NM_014806.5(RUSC2):c.370G>A (p.Asp124Asn)	RUSC2 (D124N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1387122	NM_014806.5(RUSC2):c.376G>A (p.Ala126Thr)	RUSC2 (A126T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1027722	NM_014806.5(RUSC2):c.380C>T (p.Thr127Ile)	RUSC2 (T127I)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 61	GUncertain significance
Select item 2197650	NM_014806.5(RUSC2):c.381C>T (p.Thr127=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1405297	NM_014806.5(RUSC2):c.396_440del (p.His132_Phe146del)	RUSC2	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1535645	NM_014806.5(RUSC2):c.396C>T (p.His132=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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