29588[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 152984	GRCh38/hg38 18q12.1(chr18:32462656-34463256)x1	ASXL3, CCDC178 +12 more	Copy number loss	See cases	GBenign
Select item 2536865	NM_001105528.4(CCDC178):c.2596G>A (p.Asp866Asn)	CCDC178 (D866N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227462	NM_001105528.4(CCDC178):c.2551A>G (p.Ile851Val)	CCDC178 (I851V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138902	NM_001105528.4(CCDC178):c.2459A>G (p.Gln820Arg)	CCDC178 (Q782R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138901	NM_001105528.4(CCDC178):c.2371A>G (p.Ile791Val)	CCDC178 (I791V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264107	NM_001105528.4(CCDC178):c.2349A>C (p.Lys783Asn)	CCDC178 (K783N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332528	NM_001105528.4(CCDC178):c.2342A>G (p.Tyr781Cys)	CCDC178 (Y781C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229849	NM_001105528.4(CCDC178):c.2320A>C (p.Lys774Gln)	CCDC178 (K736Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305539	NM_001105528.4(CCDC178):c.2288A>G (p.Tyr763Cys)	CCDC178 (Y725C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648634	NM_001105528.4(CCDC178):c.2273G>T (p.Arg758Leu)	CCDC178 (R720L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2255745	NM_001105528.4(CCDC178):c.2182G>A (p.Asp728Asn)	CCDC178 (D690N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327770	NM_001105528.4(CCDC178):c.2122A>G (p.Thr708Ala)	CCDC178 (T670A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371356	NM_001105528.4(CCDC178):c.2039A>G (p.Glu680Gly)	CCDC178 (E680G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358432	NM_001105528.4(CCDC178):c.2038G>A (p.Glu680Lys)	CCDC178 (E680K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138900	NM_001105528.4(CCDC178):c.2032A>G (p.Lys678Glu)	CCDC178 (K678E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264103	NM_001105528.4(CCDC178):c.2015A>G (p.Asn672Ser)	CCDC178 (N672S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138899	NM_001105528.4(CCDC178):c.1970C>G (p.Thr657Ser)	CCDC178 (T619S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138898	NM_001105528.4(CCDC178):c.1969A>G (p.Thr657Ala)	CCDC178 (T657A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474704	NM_001105528.4(CCDC178):c.1942T>C (p.Ser648Pro)	CCDC178 (S610P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518899	NM_001105528.4(CCDC178):c.1939C>T (p.Arg647Cys)	CCDC178 (R609C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610134	NM_001105528.4(CCDC178):c.1934G>A (p.Ser645Asn)	CCDC178 (S607N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138897	NM_001105528.4(CCDC178):c.1927A>T (p.Thr643Ser)	CCDC178 (T643S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138896	NM_001105528.4(CCDC178):c.1885T>A (p.Leu629Ile)	CCDC178 (L629I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558346	NM_001105528.4(CCDC178):c.1878G>T (p.Lys626Asn)	CCDC178 (K626N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589201	NM_001105528.4(CCDC178):c.1870A>G (p.Lys624Glu)	CCDC178 (K624E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138894	NM_001105528.4(CCDC178):c.1802A>G (p.Asp601Gly)	CCDC178 (D601G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321564	NM_001105528.4(CCDC178):c.1789A>G (p.Ile597Val)	CCDC178 (I597V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368942	NM_001105528.4(CCDC178):c.1756C>T (p.Pro586Ser)	CCDC178 (P586S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354874	NM_001105528.4(CCDC178):c.1718G>C (p.Arg573Thr)	CCDC178 (R573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264100	NM_001105528.4(CCDC178):c.1697G>A (p.Arg566Gln)	CCDC178 (R566Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295618	NM_001105528.4(CCDC178):c.1687G>A (p.Ala563Thr)	CCDC178 (A563T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339390	NM_001105528.4(CCDC178):c.1667A>G (p.Tyr556Cys)	CCDC178 (Y556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648635	NM_001105528.4(CCDC178):c.1587G>A (p.Lys529=)	CCDC178	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3264105	NM_001105528.4(CCDC178):c.1557G>C (p.Met519Ile)	CCDC178 (M519I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354360	NM_001105528.4(CCDC178):c.1544A>G (p.Lys515Arg)	CCDC178 (K515R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2380668	NM_001105528.4(CCDC178):c.1511G>A (p.Arg504His)	CCDC178 (R504H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272114	NM_001105528.4(CCDC178):c.1434A>T (p.Glu478Asp)	CCDC178 (E478D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296083	NM_001105528.4(CCDC178):c.1417A>G (p.Lys473Glu)	CCDC178 (K473E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264099	NM_001105528.4(CCDC178):c.1376A>G (p.Asp459Gly)	CCDC178 (D459G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606850	NM_001105528.4(CCDC178):c.1367T>A (p.Leu456His)	CCDC178 (L456H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412343	NM_001105528.4(CCDC178):c.1349C>T (p.Thr450Met)	CCDC178 (T450M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368908	NM_001105528.4(CCDC178):c.1324A>G (p.Ile442Val)	CCDC178 (I442V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324402	NM_001105528.4(CCDC178):c.1288A>G (p.Ile430Val)	CCDC178 (I430V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264102	NM_001105528.4(CCDC178):c.1280C>T (p.Thr427Ile)	CCDC178 (T427I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138893	NM_001105528.4(CCDC178):c.1215G>C (p.Trp405Cys)	CCDC178 (W405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138892	NM_001105528.4(CCDC178):c.1162T>A (p.Ser388Thr)	CCDC178 (S388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624257	NM_001105528.4(CCDC178):c.1157T>C (p.Leu386Ser)	CCDC178 (L386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254134	NM_001105528.4(CCDC178):c.1117A>C (p.Thr373Pro)	CCDC178 (T373P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264101	NM_001105528.4(CCDC178):c.1112A>G (p.Glu371Gly)	CCDC178 (E371G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138890	NM_001105528.4(CCDC178):c.1081G>A (p.Val361Ile)	CCDC178 (V361I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138889	NM_001105528.4(CCDC178):c.1072G>T (p.Val358Leu)	CCDC178 (V358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138888	NM_001105528.4(CCDC178):c.1064C>T (p.Ser355Phe)	CCDC178 (S355F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264106	NM_001105528.4(CCDC178):c.1030A>G (p.Ile344Val)	CCDC178 (I344V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157413	NC_000018.10:g.33322025_33429787dup	CCDC178, LOC126862724	Duplication	Small for gestational age	Gnot provided
Select item 2255491	NM_001105528.4(CCDC178):c.1015G>A (p.Ala339Thr)	CCDC178 (A339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322207	NM_001105528.4(CCDC178):c.1010T>C (p.Ile337Thr)	CCDC178 (I337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264104	NM_001105528.4(CCDC178):c.988A>T (p.Ile330Phe)	CCDC178 (I330F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477279	NM_001105528.4(CCDC178):c.662A>T (p.His221Leu)	CCDC178 (H221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597631	NM_001105528.4(CCDC178):c.652C>A (p.Gln218Lys)	CCDC178 (Q218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315094	NM_001105528.4(CCDC178):c.646G>A (p.Ala216Thr)	CCDC178 (A216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648636	NM_001105528.4(CCDC178):c.348G>A (p.Arg116=)	CCDC178	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2466063	NM_001105528.4(CCDC178):c.248G>A (p.Arg83His)	CCDC178 (R83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539180	NM_001105528.4(CCDC178):c.211G>T (p.Val71Leu)	CCDC178 (V71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 2455945	NM_001105528.4(CCDC178):c.119G>A (p.Gly40Asp)	CCDC178 (G40D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138905	NM_001105528.4(CCDC178):c.64A>G (p.Thr22Ala)	CCDC178 (T22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138904	NM_001105528.4(CCDC178):c.46C>A (p.Gln16Lys)	CCDC178 (Q16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2684873	GRCh37/hg19 18q12.1(chr18:30618697-30915045)x3	CCDC178	Copy number gain	not provided	GUncertain significance
Select item 1807800	GRCh37/hg19 18q12.1(chr18:30988810-31359711)x1	ASXL3, CCDC178	Copy number loss	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1341112	GRCh37/hg19 18q12.1(chr18:30480874-30536147)x1	CCDC178	Copy number loss	not provided	GLikely benign
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 687160	GRCh37/hg19 18q12.1(chr18:30863773-31433693)x1	ASXL3, CCDC178 +1 more	Copy number loss	not provided	GPathogenic
Select item 564554	GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1	ASXL3, C18orf21 +22 more	Copy number loss	not provided	GPathogenic
Select item 564527	GRCh37/hg19 18q12.1(chr18:29943744-30863202)x3	CCDC178, GAREM1 +1 more	Copy number gain	not provided	GLikely benign
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic

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