ClinVar for Gene (Select 57565) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2594920	NM_020805.3(KLHL14):c.195C>A (p.His65Gln)	KLHL14 (H65Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511201	NM_020805.3(KLHL14):c.677A>G (p.Asp226Gly)	KLHL14 (D226G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487891	NM_020805.3(KLHL14):c.1400C>G (p.Ala467Gly)	KLHL14 (A467G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486044	NM_020805.3(KLHL14):c.221G>A (p.Gly74Asp)	KLHL14 (G74D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472202	NM_020805.3(KLHL14):c.118C>G (p.Gln40Glu)	KLHL14 (Q40E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462990	NM_020805.3(KLHL14):c.865G>C (p.Val289Leu)	KLHL14 (V289L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407275	NM_020805.3(KLHL14):c.1099G>A (p.Val367Ile)	KLHL14 (V367I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354367	NM_020805.3(KLHL14):c.299C>T (p.Pro100Leu)	KLHL14 (P100L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343240	NM_020805.3(KLHL14):c.710C>T (p.Ala237Val)	KLHL14 (A237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341889	NM_020805.3(KLHL14):c.1355G>A (p.Arg452His)	KLHL14 (R452H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341449	NM_020805.3(KLHL14):c.107C>T (p.Thr36Ile)	KLHL14 (T36I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337952	NM_020805.3(KLHL14):c.1448A>C (p.Glu483Ala)	KLHL14 (E483A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305576	NM_020805.3(KLHL14):c.699G>C (p.Glu233Asp)	KLHL14 (E233D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304863	NM_020805.3(KLHL14):c.1556G>A (p.Arg519His)	KLHL14 (R519H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273144	NM_020805.3(KLHL14):c.1027C>A (p.Gln343Lys)	KLHL14 (Q343K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255816	NM_020805.3(KLHL14):c.1141G>C (p.Asp381His)	KLHL14 (D381H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222781	NM_020805.3(KLHL14):c.736C>G (p.Leu246Val)	KLHL14 (L246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218247	NM_020805.3(KLHL14):c.1615G>A (p.Val539Met)	KLHL14 (V539M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217011	NM_020805.3(KLHL14):c.1321G>A (p.Val441Met)	KLHL14 (V441M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +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 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
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443561	GRCh37/hg19 18q12.1(chr18:30299358-30800098)x1	CCDC178, KLHL14	Copy number loss	See cases	GUncertain significance
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 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 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
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	LOC130062386, LOC130062387 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	LINC01900, LINC01908 +282 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 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LINC01902, LINC01903 +1005 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 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 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 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 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58