16715[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 2470106	NM_022779.9(DDX31):c.2234A>G (p.Lys745Arg)	DDX31 (K745R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531469	NM_022779.9(DDX31):c.2219G>A (p.Ser740Asn)	DDX31 (S667N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271306	NM_022779.9(DDX31):c.2167C>A (p.Arg723Ser)	DDX31 (R723S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080997	NM_022779.9(DDX31):c.2150C>T (p.Pro717Leu)	DDX31 (P693L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517576	NM_022779.9(DDX31):c.2102A>G (p.Asn701Ser)	DDX31 (N710S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659658	NM_022779.9(DDX31):c.2085C>G (p.Ala695=)	DDX31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3080995	NM_022779.9(DDX31):c.2018A>G (p.Gln673Arg)	DDX31 (Q682R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256418	NM_022779.9(DDX31):c.1981G>A (p.Ala661Thr)	DDX31 (A589T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399720	NM_022779.9(DDX31):c.1955G>C (p.Ser652Thr)	DDX31 (S579T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271302	NM_022779.9(DDX31):c.1813T>C (p.Trp605Arg)	DDX31 (W614R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385554	NM_022779.9(DDX31):c.1795A>G (p.Ser599Gly)	DDX31 (S527G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246247	NM_022779.9(DDX31):c.1769C>T (p.Thr590Met)	DDX31 (T599M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364507	NM_022779.9(DDX31):c.1751G>A (p.Arg584Gln)	DDX31 (R512Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271305	NM_022779.9(DDX31):c.1723G>T (p.Ala575Ser)	DDX31 (A584S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592909	NM_022779.9(DDX31):c.1679A>G (p.Asp560Gly)	DDX31 (D560G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271296	NM_022779.9(DDX31):c.1546C>T (p.Arg516Trp)	DDX31 (R444W +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2515451	NM_022779.9(DDX31):c.1529G>A (p.Arg510Gln)	DDX31 (R486Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362972	NM_022779.9(DDX31):c.1528C>T (p.Arg510Trp)	DDX31 (R438W +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2316559	NM_022779.9(DDX31):c.1384A>G (p.Arg462Gly)	DDX31 (R462G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080991	NM_022779.9(DDX31):c.1352T>C (p.Leu451Pro)	DDX31 (L379P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080990	NM_022779.9(DDX31):c.1309G>A (p.Ala437Thr)	DDX31 (A365T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602679	NM_022779.9(DDX31):c.1307C>T (p.Pro436Leu)	DDX31 (P412L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272289	NM_022779.9(DDX31):c.1198T>C (p.Cys400Arg)	DDX31 (C328R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271299	NM_022779.9(DDX31):c.1190T>A (p.Leu397His)	DDX31 (L325H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080989	NM_022779.9(DDX31):c.1178C>T (p.Ala393Val)	DDX31 (A321V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271300	NM_022779.9(DDX31):c.1145T>C (p.Val382Ala)	DDX31 (V358A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305957	NM_022779.9(DDX31):c.1114A>G (p.Ile372Val)	DDX31 (I348V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080988	NM_022779.9(DDX31):c.1093G>A (p.Asp365Asn)	DDX31 (D341N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525737	NM_022779.9(DDX31):c.1036G>A (p.Asp346Asn)	DDX31 (D274N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406909	NM_022779.9(DDX31):c.989T>C (p.Ile330Thr)	DDX31 (I258T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488447	NM_022779.9(DDX31):c.977G>A (p.Arg326Gln)	DDX31 (R335Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266276	NM_022779.9(DDX31):c.976C>T (p.Arg326Trp)	DDX31 (R254W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238481	NM_022779.9(DDX31):c.916G>A (p.Ala306Thr)	DDX31 (A315T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303741	NM_022779.9(DDX31):c.905A>G (p.Asn302Ser)	DDX31 (N230S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387747	NM_022779.9(DDX31):c.832C>T (p.Arg278Trp)	DDX31 (R254W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271303	NM_022779.9(DDX31):c.827G>A (p.Arg276Gln)	DDX31 (R252Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271304	NM_022779.9(DDX31):c.806C>T (p.Thr269Ile)	DDX31 (T245I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304556	NM_022779.9(DDX31):c.745C>T (p.Arg249Cys)	DDX31 (R258C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349520	NM_022779.9(DDX31):c.619G>A (p.Val207Met)	DDX31 (V135M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271298	NM_022779.9(DDX31):c.589C>T (p.Arg197Cys)	DDX31 (R125C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213326	NM_022779.9(DDX31):c.571A>G (p.Met191Val)	DDX31 (M200V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607758	NM_022779.9(DDX31):c.425C>T (p.Thr142Met)	DDX31 (T118M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323808	NM_022779.9(DDX31):c.385G>C (p.Glu129Gln)	DDX31 (E105Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081003	NM_022779.9(DDX31):c.382C>T (p.His128Tyr)	DDX31 (H128Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081002	NM_022779.9(DDX31):c.239C>T (p.Ser80Leu)	DDX31 (S56L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2277335	NM_022779.9(DDX31):c.176T>A (p.Val59Asp)	DDX31 (V35D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081001	NM_022779.9(DDX31):c.170C>G (p.Thr57Ser)	DDX31 (T57S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241514	NM_022779.9(DDX31):c.141C>A (p.Asn47Lys)	DDX31 (N47K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549715	NM_022779.9(DDX31):c.134G>A (p.Arg45Gln)	DDX31 (R21Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377333	NM_022779.9(DDX31):c.107C>T (p.Ala36Val)	DDX31 (A12V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392954	NM_022779.9(DDX31):c.-15T>A	DDX31	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474260	NM_022779.9(DDX31):c.-29T>G	DDX31	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080999	NM_022779.9(DDX31):c.-32C>G	DDX31	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3271301	NM_022779.9(DDX31):c.-39C>T	DDX31	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080998	NM_022779.8(DDX31):c.247C>G (p.Arg83Gly)	DDX31 (R83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080996	NM_022779.8(DDX31):c.238C>T (p.Arg80Cys)	DDX31 (R80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080993	NM_022779.8(DDX31):c.192C>A (p.Ser64Arg)	DDX31, GTF3C4 (S64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271309	NM_022779.8(DDX31):c.185C>T (p.Pro62Leu)	DDX31, GTF3C4 (P62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595754	NM_022779.8(DDX31):c.179C>A (p.Thr60Lys)	DDX31, GTF3C4 (T60K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271307	NM_022779.8(DDX31):c.155C>G (p.Pro52Arg)	DDX31, GTF3C4 (P52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271295	NM_022779.8(DDX31):c.139C>T (p.Pro47Ser)	DDX31, GTF3C4 (P47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211795	NM_022779.8(DDX31):c.77C>A (p.Pro26Gln)	DDX31, GTF3C4 (P26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3063120	GRCh37/hg19 9q34.13(chr9:135056358-135636431)x1	AK8, BARHL1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685367	GRCh37/hg19 9q34.13(chr9:135469154-135717772)x1	AK8, DDX31 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 1808330	GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)x3	BARHL1, CEL +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic

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