ABHD3[gene] - ClinVar

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Items: 53

	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 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 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 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 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 2351353	NM_138340.5(ABHD3):c.1220A>T (p.Glu407Val)	ABHD3, LOC129390960 (E407V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324331	NM_138340.5(ABHD3):c.1169T>C (p.Met390Thr)	ABHD3, LOC129390960 (M390T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231250	NM_138340.5(ABHD3):c.1112C>G (p.Ser371Cys)	ABHD3 (S371C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205506	NM_138340.5(ABHD3):c.899C>G (p.Ser300Cys)	ABHD3 (S247C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775465	NM_138340.5(ABHD3):c.819C>T (p.Thr273=)	ABHD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131027	NM_138340.5(ABHD3):c.739G>A (p.Val247Ile)	ABHD3 (V247I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402848	NM_138340.5(ABHD3):c.710C>T (p.Thr237Met)	ABHD3 (T184M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392601	NM_138340.5(ABHD3):c.698T>C (p.Ile233Thr)	ABHD3 (I180T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539874	NM_138340.5(ABHD3):c.697A>T (p.Ile233Phe)	ABHD3 (I180F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131015	NM_138340.5(ABHD3):c.628C>T (p.Pro210Ser)	ABHD3 (P210S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2366090	NM_138340.5(ABHD3):c.559C>A (p.Pro187Thr)	ABHD3 (P187T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2488176	NM_138340.5(ABHD3):c.530G>A (p.Arg177Lys)	ABHD3 (R177K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322323	NM_138340.5(ABHD3):c.426C>G (p.Ile142Met)	ABHD3 (I142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131005	NM_138340.5(ABHD3):c.376G>A (p.Asp126Asn)	ABHD3 (D126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548680	NM_138340.5(ABHD3):c.311C>T (p.Pro104Leu)	ABHD3, LOC130062250 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349189	NM_138340.5(ABHD3):c.250G>A (p.Val84Ile)	ABHD3 (V84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322240	NM_138340.5(ABHD3):c.213C>A (p.Asp71Glu)	ABHD3 (D71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395089	NM_138340.5(ABHD3):c.191G>A (p.Ser64Asn)	ABHD3 (S64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322403	NM_138340.5(ABHD3):c.116G>A (p.Gly39Asp)	ABHD3, LOC130062251 (G39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 2422760	NC_000018.9:g.(?_18963480)_(21534612_?)dup	ABHD3, ANKRD29 +15 more	Duplication	Niemann-Pick disease, type C1	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 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 686554	GRCh37/hg19 18q11.2(chr18:19047402-19737070)x3	ABHD3, ESCO1 +5 more	Copy number gain	not provided	GUncertain significance
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 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 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 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 395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	ABHD3, AFG3L2 +40 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: 53