14015[HGNC] - ClinVar

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Items: 93

	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 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 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 58779	GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3	C18orf21, CELF4 +75 more	Copy number gain	See cases	GPathogenic
Select item 146664	GRCh38/hg38 18q12.2(chr18:36798395-37271836)x3	CELF4, KIAA1328 +6 more	Copy number gain	See cases	GBenign
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 155245	GRCh38/hg38 18q12.2-12.3(chr18:36972277-42228852)x3	LINC01901, CELF4 +31 more	Copy number gain	See cases	GLikely benign
Select item 155617	GRCh38/hg38 18q12.2(chr18:36980196-37529163)x3	CELF4, KIAA1328 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2463480	NM_020180.4(CELF4):c.1259G>T (p.Gly420Val)	CELF4 (G286V +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3048187	NM_020180.4(CELF4):c.1242G>C (p.Gln414His)	CELF4 (Q280H +13 more)	Single nucleotide variant (missense variant +1 more)	CELF4-related disorder	GUncertain significance
Select item 728639	NM_020180.4(CELF4):c.1218G>A (p.Pro406=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2510974	NM_020180.4(CELF4):c.1217C>T (p.Pro406Leu)	CELF4 (P273L +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718289	NM_020180.4(CELF4):c.1143C>T (p.Ala381=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2513720	NM_020180.4(CELF4):c.1141G>A (p.Ala381Thr)	CELF4 (A379T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230118	NM_020180.4(CELF4):c.1122C>A (p.Asp374Glu)	CELF4 (D373E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268664	NM_020180.4(CELF4):c.1117G>A (p.Ala373Thr)	CELF4 (A371T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3053005	NM_020180.4(CELF4):c.1074C>T (p.Phe358=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related disorder	GLikely benign
Select item 2394021	NM_020180.4(CELF4):c.1061C>T (p.Ala354Val)	CELF4 (A220V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250998	NM_020180.4(CELF4):c.1036C>T (p.Pro346Ser)	CELF4 (P336S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535776	NM_020180.4(CELF4):c.1027G>A (p.Gly343Ser)	CELF4 (G210S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3265722	NM_020180.4(CELF4):c.1016A>G (p.Asn339Ser)	CELF4 (N339S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039626	NM_020180.4(CELF4):c.1012G>A (p.Val338Met)	CELF4 (V204M +8 more)	Single nucleotide variant (missense variant +1 more)	CELF4-related disorder	GLikely benign
Select item 3141949	NM_020180.4(CELF4):c.985G>A (p.Val329Met)	CELF4 (V327M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060581	NM_020180.4(CELF4):c.984C>T (p.Ala328=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related disorder	GBenign
Select item 2227302	NM_020180.4(CELF4):c.949+3G>A	CELF4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3038143	NM_020180.4(CELF4):c.930A>G (p.Ala310=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related disorder	GLikely benign
Select item 2648684	NM_020180.4(CELF4):c.900G>A (p.Ala300=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2470443	NM_020180.4(CELF4):c.880G>A (p.Ala294Thr)	CELF4 (A161T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2466795	NM_020180.4(CELF4):c.838G>A (p.Ala280Thr)	CELF4 (A146T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3049299	NM_020180.4(CELF4):c.837C>T (p.Val279=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related disorder	GLikely benign
Select item 2688761	NM_020180.4(CELF4):c.808C>T (p.Gln270Ter)	CELF4 (Q136* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3037495	NM_020180.4(CELF4):c.801+7G>A	CELF4	Single nucleotide variant (intron variant)	CELF4-related disorder	GBenign
Select item 2572258	NM_020180.4(CELF4):c.796C>T (p.Gln266Ter)	CELF4 (Q132* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2920695	NM_020180.4(CELF4):c.792C>A (p.Tyr264Ter)	CELF4 (Y140* +6 more)	Single nucleotide variant (nonsense +1 more)	Developmental disorder	GLikely pathogenic
Select item 2546197	NM_020180.4(CELF4):c.736G>A (p.Gly246Ser)	CELF4 (G235S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801784	NM_020180.4(CELF4):c.658-152G>A	CELF4, LOC105372068	Single nucleotide variant (intron variant)	Myoepithelial tumor	GUncertain significance
Select item 2601545	NM_020180.4(CELF4):c.656C>G (p.Pro219Arg)	CELF4, LOC105372068 (P218R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 985392	NM_020180.4(CELF4):c.655C>A (p.Pro219Thr)	CELF4, LOC105372068 (P208T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141948	NM_020180.4(CELF4):c.547A>G (p.Ile183Val)	CELF4, LOC105372068 (I59V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141947	NM_020180.4(CELF4):c.541T>C (p.Cys181Arg)	CELF4, LOC105372068 (C171R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552408	NM_020180.4(CELF4):c.509G>T (p.Arg170Leu)	CELF4, LOC105372068 (R170L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773600	NM_020180.4(CELF4):c.381G>A (p.Pro127=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3048420	NM_020180.4(CELF4):c.327G>A (p.Leu109=)	CELF4	Single nucleotide variant (synonymous variant +2 more)	CELF4-related disorder	GLikely benign
Select item 3041530	NM_020180.4(CELF4):c.207C>T (p.Asp69=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related disorder	GLikely benign
Select item 493234	NM_020180.4(CELF4):c.74G>A (p.Ser25Asn)	CELF4 (S25N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2335486	NM_020180.4(CELF4):c.52C>A (p.Leu18Ile)	CELF4 (L18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265724	NM_020180.4(CELF4):c.7A>G (p.Ile3Val)	CELF4 (I3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
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 1808952	GRCh37/hg19 18q12.2(chr18:33908661-35007766)x3	CELF4, FHOD3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808371	GRCh37/hg19 18q12.2(chr18:34278224-34957600)x3	CELF4, FHOD3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526612	GRCh37/hg19 18q12.2(chr18:34804037-35370979)	CELF4, KIAA1328	Copy number gain	not specified	GUncertain significance
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
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 979693	GRCh37/hg19 18q12.2(chr18:34801423-34965488)x1	CELF4, KIAA1328	Copy number loss	not provided	GUncertain significance
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 816008	GRCh37/hg19 18q12.2-12.3(chr18:35075741-42526183)x1	RIT2, SYT4 +3 more	Copy number loss	not provided	GPathogenic
Select item 816002	GRCh37/hg19 18q12.2(chr18:34829775-35915856)x3	CELF4	Copy number gain	not provided	GUncertain significance
Select item 687924	GRCh37/hg19 18q12.2(chr18:33946587-34851756)x1	CELF4, FHOD3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 686097	GRCh37/hg19 18q12.2(chr18:34779451-34965366)x3	CELF4, KIAA1328	Copy number gain	not provided	GUncertain significance
Select item 625733	GRCh37/hg19 18q12.2(chr18:33554981-36939357)	C18orf21, CELF4 +7 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 564520	GRCh37/hg19 18q12.2(chr18:34276535-34965488)x3	KIAA1328, TPGS2 +2 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
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442113	GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1	ASXL3, C18orf21 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 93