1630[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 296

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	ACAA2, ADNP2 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 59964	GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1	C18orf54, CCDC68 +62 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	LOC130062661, LOC130062662 +340 more	Copy number loss	See cases	GPathogenic
Select item 1077125	NM_005215.4(DCC):c.2T>C (p.Met1Thr)	DCC (M1T)	Single nucleotide variant (missense variant +1 more)	Partial agenesis of the corpus callosum	GLikely pathogenic
Select item 3059262	NM_005215.4(DCC):c.8A>G (p.Asn3Ser)	DCC (N3S)	Single nucleotide variant (missense variant)	DCC-related disorder	GLikely benign
Select item 446759	NM_005215.4(DCC):c.31_91+7622del	DCC	Deletion (splice donor variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2	GPathogenic
Select item 2311293	NM_005215.4(DCC):c.49C>G (p.Leu17Val)	DCC (L17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1255454	NM_005215.4(DCC):c.67T>C (p.Phe23Leu)	DCC (F23L)	Single nucleotide variant (missense variant)	Mirror movements 1 +1 more	GBenign
Select item 709096	NM_005215.4(DCC):c.91+7G>A	DCC	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC130062755, LOC130062756 +644 more	Copy number loss	See cases	GPathogenic
Select item 2648721	NM_005215.4(DCC):c.120G>A (p.Leu40=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1305425	NM_005215.4(DCC):c.163G>C (p.Gly55Arg)	DCC (G55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310734	NM_005215.4(DCC):c.225G>C (p.Lys75Asn)	DCC (K75N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386158	NM_005215.4(DCC):c.250G>A (p.Gly84Arg)	DCC (G84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333224	NM_005215.4(DCC):c.263G>C (p.Arg88Thr)	DCC (R88T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780478	NM_005215.4(DCC):c.303C>T (p.Asn101=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1255455	NM_005215.4(DCC):c.354G>A (p.Glu118=)	DCC	Single nucleotide variant (synonymous variant)	DCC-related disorder +2 more	GBenign
Select item 1030892	NM_005215.4(DCC):c.371C>T (p.Ser124Phe)	DCC (S124F)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 187794	NM_005215.4(DCC):c.377C>A (p.Ser126Ter)	DCC (S126*)	Single nucleotide variant (nonsense)	Mirror movements 1	Gnot provided
Select item 3035293	NM_005215.4(DCC):c.384T>A (p.Ile128=)	DCC	Single nucleotide variant (synonymous variant)	DCC-related disorder	GLikely benign
Select item 2439657	NM_005215.4(DCC):c.437_440del (p.Thr146fs)	DCC (T146fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2483635	NM_005215.4(DCC):c.439G>A (p.Glu147Lys)	DCC (E147K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080407	NM_005215.4(DCC):c.443C>A (p.Ser148Tyr)	DCC (S148Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 17075	NM_005215.4(DCC):c.503T>C (p.Met168Thr)	DCC (M168T)	Single nucleotide variant (missense variant)	Esophageal carcinoma, somatic	GPathogenic
Select item 2206998	NM_005215.4(DCC):c.526A>G (p.Asn176Asp)	DCC (N176D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 187789	NM_005215.4(DCC):c.527A>G (p.Asn176Ser)	DCC (N176S)	Single nucleotide variant (missense variant)	Mirror movements 1	Gnot provided
Select item 1804232	NM_005215.4(DCC):c.532C>G (p.Gln178Glu)	DCC (Q178E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648722	NM_005215.4(DCC):c.549C>T (p.Ile183=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 187795	NM_005215.4(DCC):c.571dup (p.Val191fs)	DCC (V191fs)	Duplication (frameshift variant)	Mirror movements 1	GPathogenic
Select item 2615298	NM_005215.4(DCC):c.581C>T (p.Ser194Phe)	DCC (S194F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 803493	NM_005215.4(DCC):c.601C>G (p.Arg201Gly)	DCC (R201G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2429878	NM_005215.4(DCC):c.617A>T (p.Asp206Val)	DCC (D206V)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 1311001	NM_005215.4(DCC):c.628T>G (p.Tyr210Asp)	DCC (Y210D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504683	NM_005215.4(DCC):c.632G>C (p.Arg211Pro)	DCC (R211P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985551	NM_005215.4(DCC):c.643C>T (p.Arg215Ter)	DCC (R215*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 745786	NM_005215.4(DCC):c.654C>A (p.Ala218=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2581572	NM_005215.4(DCC):c.698-17G>T	DCC	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2648723	NM_005215.4(DCC):c.706C>T (p.Leu236=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3052273	NM_005215.4(DCC):c.709C>T (p.His237Tyr)	DCC (H237Y)	Single nucleotide variant (missense variant)	DCC-related disorder	GBenign
Select item 2662231	NM_005215.4(DCC):c.709C>A (p.His237Asn)	DCC (H237N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442734	NM_005215.4(DCC):c.743A>G (p.Asn248Ser)	DCC (N248S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930503	NM_005215.4(DCC):c.769G>A (p.Ala257Thr)	DCC (A257T)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2	GUncertain significance
Select item 2648724	NM_005215.4(DCC):c.783T>C (p.Cys261=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446724	NM_005215.4(DCC):c.788_794del (p.Val263fs)	DCC (V263fs)	Deletion (frameshift variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2	GPathogenic
Select item 1312381	NM_005215.4(DCC):c.793G>A (p.Gly265Ser)	DCC (G265S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 187796	NM_005215.4(DCC):c.823C>T (p.Arg275Ter)	DCC (R275*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2504839	NM_005215.4(DCC):c.840C>G (p.Ile280Met)	DCC (I280M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177892	NM_005215.4(DCC):c.848+13T>G	DCC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3080408	NM_005215.4(DCC):c.851C>G (p.Ser284Cys)	DCC (S284C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247670	NM_005215.4(DCC):c.898G>T (p.Val300Leu)	DCC (V300L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375281	NM_005215.4(DCC):c.925del (p.Thr309fs)	DCC (T309fs)	Deletion (frameshift variant)	Mirror movements 1 +1 more	GPathogenic
Select item 998135	NM_005215.4(DCC):c.947del (p.Asn316fs)	DCC (N316fs)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 723447	NM_005215.4(DCC):c.944A>C (p.Lys315Thr)	DCC (K315T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2498740	NM_005215.4(DCC):c.965_966dup (p.Ala323fs)	DCC (A323fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2304010	NM_005215.4(DCC):c.986-3C>T	DCC	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2508534	NM_005215.4(DCC):c.994T>C (p.Trp332Arg)	DCC (W332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1309019	NM_005215.4(DCC):c.1054T>C (p.Cys352Arg)	DCC (C352R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306650	NM_005215.4(DCC):c.1060G>A (p.Val354Ile)	DCC (V354I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773345	NM_005215.4(DCC):c.1062C>T (p.Val354=)	DCC	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2272564	NM_005215.4(DCC):c.1081A>G (p.Thr361Ala)	DCC (T361A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 793420	NM_005215.4(DCC):c.1083T>G (p.Thr361=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1204338	NM_005215.4(DCC):c.1084G>A (p.Val362Met)	DCC (V362M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446590	NM_005215.4(DCC):c.1117C>T (p.Pro373Ser)	DCC (P373S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 187797	NM_005215.4(DCC):c.1140+1G>A	DCC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 785591	NM_005215.4(DCC):c.1143A>T (p.Gly381=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1128530	NM_005215.4(DCC):c.1150A>C (p.Asn384His)	DCC (N384H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2429879	NM_005215.4(DCC):c.1154T>A (p.Leu385Ter)	DCC (L385*)	Single nucleotide variant (nonsense)	Mirror movements 1	GPathogenic
Select item 3080388	NM_005215.4(DCC):c.1156C>G (p.Arg386Gly)	DCC (R386G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727883	NM_005215.4(DCC):c.1157G>A (p.Arg386Gln)	DCC (R386Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2487046	NM_005215.4(DCC):c.1234A>G (p.Ser412Gly)	DCC (S412G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300440	NM_005215.4(DCC):c.1247T>G (p.Ile416Ser)	DCC (I416S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412758	NM_005215.4(DCC):c.1256del (p.Lys419fs)	DCC (K419fs)	Deletion (frameshift variant)	Mirror movements 1	GLikely pathogenic
Select item 719574	NM_005215.4(DCC):c.1256A>G (p.Lys419Arg)	DCC (K419R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2579282	GRCh38/hg38 18q21.2(chr18:53157259-53340005)x1	DCC, MIR4528	Copy number loss	Mirror movements 1	GUncertain significance
Select item 2503235	NM_005215.4(DCC):c.1268C>G (p.Pro423Arg)	DCC (P423R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2217001	NM_005215.4(DCC):c.1274C>T (p.Ser425Phe)	DCC (S425F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049482	NM_005215.4(DCC):c.1301A>G (p.Asp434Gly)	DCC (D434G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648725	NM_005215.4(DCC):c.1317G>A (p.Leu439=)	DCC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 187798	NM_005215.4(DCC):c.1336_1337insAGCC (p.Arg446fs)	DCC (R446fs)	Insertion (frameshift variant)	Mirror movements 1	Gnot provided
Select item 3034874	NM_005215.4(DCC):c.1364C>T (p.Ala455Val)	DCC (A455V)	Single nucleotide variant (missense variant)	DCC-related disorder	GLikely benign
Select item 3033426	NM_005215.4(DCC):c.1380A>C (p.Gln460His)	DCC (Q460H)	Single nucleotide variant (missense variant)	DCC-related disorder	GBenign

<< First< Prev

Page of 3