Full data view for gene ABHD5

Information The variants shown are described using the NM_016006.4 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-324372G>A r.(?) p.(=) Unknown - likely benign g.43408113G>A g.43366621G>A - - ANO10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-324067del r.(?) p.(=) Unknown - VUS g.43408418del - ANO10(NM_018075.5):c.1965delG (p.K656Rfs*108) - ABHD5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-318267A>G r.(?) p.(=) Unknown - VUS g.43414218A>G g.43372726A>G ANO10(NM_001204831.2):c.*33+2T>C - ANO10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-258399A>T r.(?) p.(=) Unknown - likely benign g.43474086A>T g.43432594A>T ANO10(NM_018075.4):c.1914+17T>A - ANO10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-258344T>C r.(?) p.(=) Unknown - VUS g.43474141T>C g.43432649T>C ANO10(NM_018075.4):c.1876A>G (p.R626G) - ANO10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-258332T>C r.(?) p.(=) Unknown - likely pathogenic g.43474153T>C g.43432661T>C ANO10(NM_018075.4):c.1864A>G (p.M622V) - ABHD5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-258311C>T r.(?) p.(=) Unknown - likely pathogenic g.43474174C>T g.43432682C>T ANO10(NM_018075.4):c.1843G>A (p.D615N) - ANO10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-258286C>G r.(?) p.(=) Unknown - VUS g.43474199C>G g.43432707C>G - - ANO10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-141186G>A r.(?) p.(=) Unknown - likely benign g.43591299G>A g.43549807G>A ANO10(NM_001204831.2):c.1710C>T (p.N570=) - ABHD5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-141159C>G r.(?) p.(=) Unknown - likely benign g.43591326C>G g.43549834C>G ANO10(NM_018075.4):c.1683G>C (p.T561=) - ANO10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-141158G>A r.(?) p.(=) Unknown - benign g.43591327G>A g.43549835G>A ANO10(NM_001204831.3):c.1682C>T (p.T561M), ANO10(NM_018075.4):c.1682C>T (p.T561M) - ANO10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-141158G>A r.(?) p.(=) Unknown - benign g.43591327G>A g.43549835G>A ANO10(NM_001204831.3):c.1682C>T (p.T561M), ANO10(NM_018075.4):c.1682C>T (p.T561M) - ANO10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-141158G>A r.(?) p.(=) Unknown - benign g.43591327G>A g.43549835G>A ANO10(NM_001204831.3):c.1682C>T (p.T561M), ANO10(NM_018075.4):c.1682C>T (p.T561M) - ANO10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-129771A>G r.(?) p.(=) Unknown - likely benign g.43602714A>G g.43561222A>G ANO10(NM_001204831.3):c.1474T>C (p.L492=) - ANO10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-129682C>T r.(?) p.(=) Unknown - benign g.43602803C>T g.43561311C>T ANO10(NM_001204831.3):c.1385G>A (p.R462Q), ANO10(NM_018075.4):c.1385G>A (p.R462Q) - ANO10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-129682C>T r.(?) p.(=) Unknown - benign g.43602803C>T g.43561311C>T ANO10(NM_001204831.3):c.1385G>A (p.R462Q), ANO10(NM_018075.4):c.1385G>A (p.R462Q) - ANO10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-129682C>T r.(?) p.(=) Unknown - benign g.43602803C>T g.43561311C>T ANO10(NM_001204831.3):c.1385G>A (p.R462Q), ANO10(NM_018075.4):c.1385G>A (p.R462Q) - ANO10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-129678C>T r.(?) p.(=) Unknown - likely benign g.43602807C>T g.43561315C>T ANO10(NM_001204831.2):c.1381G>A (p.V461M) - ABHD5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-129659C>G r.(?) p.(=) Unknown - VUS g.43602826C>G - ANO10(NM_018075.5):c.1362G>C (p.(Trp454Cys)) - ABHD5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125366G>A r.(?) p.(=) Unknown - benign g.43607119G>A g.43565627G>A ANO10(NM_018075.4):c.1293+26C>T - ANO10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125349T>C r.(?) p.(=) Unknown - benign g.43607136T>C g.43565644T>C ANO10(NM_001204831.3):c.1293+9A>G, ANO10(NM_018075.4):c.1293+9A>G - ANO10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125349T>C r.(?) p.(=) Unknown - benign g.43607136T>C g.43565644T>C ANO10(NM_001204831.3):c.1293+9A>G, ANO10(NM_018075.4):c.1293+9A>G - ANO10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125349T>C r.(?) p.(=) Unknown - benign g.43607136T>C g.43565644T>C ANO10(NM_001204831.3):c.1293+9A>G, ANO10(NM_018075.4):c.1293+9A>G - ANO10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-125338G>A r.(?) p.(=) Unknown - pathogenic g.43607147G>A g.43565655G>A - - ANO10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-125329G>C r.(?) p.(=) Unknown - VUS g.43607156G>C g.43565664G>C ANO10(NM_001204831.2):c.1282C>G (p.L428V) - ANO10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-125261C>A r.(?) p.(=) Unknown - likely benign g.43607224C>A g.43565732C>A ANO10(NM_001204831.2):c.1219-5G>T - ANO10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125246_-125243dup r.(?) p.(=) Unknown - benign g.43607239_43607242dup - ANO10(NM_001204831.3):c.1219-9_1219-6dupTTTT - ABHD5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125245_-125243dup r.(?) p.(=) Unknown - benign g.43607240_43607242dup - ANO10(NM_001204831.3):c.1219-8_1219-6dupTTT - ABHD5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125244_-125243del r.(?) p.(=) Unknown - benign g.43607241_43607242del - ANO10(NM_001204831.3):c.1219-7_1219-6delTT - ABHD5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125244_-125243del r.(?) p.(=) Unknown - benign g.43607241_43607242del - ANO10(NM_001204831.3):c.1219-7_1219-6delTT, ANO10(NM_001346464.2):c.1219-7_1219-6delTT - ABHD5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125244_-125243dup r.(?) p.(=) Unknown - benign g.43607241_43607242dup g.43565749_43565750dup ANO10(NM_001204831.2):c.1219-7_1219-6dupTT - ABHD5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-125243del r.(?) p.(=) Unknown - likely benign g.43607242del g.43565750del ANO10(NM_001204831.2):c.1219-6delT, ANO10(NM_001204831.3):c.1219-6delT - ANO10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125243del r.(?) p.(=) Unknown - benign g.43607242del - ANO10(NM_001204831.2):c.1219-6delT, ANO10(NM_001204831.3):c.1219-6delT - ANO10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-125243dup r.(?) p.(=) Unknown - benign g.43607242dup g.43565750dup ANO10(NM_001204831.1):c.1219-6dup (p.(=)), ANO10(NM_001204831.2):c.1219-6dupT - ABHD5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-125243dup r.(?) p.(=) Unknown - likely benign g.43607242dup g.43565750dup ANO10(NM_001204831.1):c.1219-6dup (p.(=)), ANO10(NM_001204831.2):c.1219-6dupT - ABHD5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-114272C>T r.(?) p.(=) Unknown - likely benign g.43618213C>T - ANO10(NM_018075.5):c.1133G>A (p.R378Q) - ABHD5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-114205T>C r.(?) p.(=) Unknown - benign g.43618280T>C g.43576788T>C ANO10(NM_001204831.3):c.1066A>G (p.S356G), ANO10(NM_018075.4):c.1066A>G (p.S356G) - ANO10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-114205T>C r.(?) p.(=) Unknown - benign g.43618280T>C g.43576788T>C ANO10(NM_001204831.3):c.1066A>G (p.S356G), ANO10(NM_018075.4):c.1066A>G (p.S356G) - ANO10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-114205T>C r.(?) p.(=) Unknown - benign g.43618280T>C g.43576788T>C ANO10(NM_001204831.3):c.1066A>G (p.S356G), ANO10(NM_018075.4):c.1066A>G (p.S356G) - ANO10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-114160C>G r.(?) p.(=) Unknown - VUS g.43618325C>G g.43576833C>G - - ANO10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-114150G>A r.(?) p.(=) Unknown - likely benign g.43618335G>A - ANO10(NM_001346464.1):c.1011C>T (p.F337=) - ABHD5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-114148A>C r.(?) p.(=) Unknown - VUS g.43618337A>C g.43576845A>C - - ANO10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-114119T>C r.(?) p.(=) Unknown - likely benign g.43618366T>C g.43576874T>C ANO10(NM_001204831.2):c.980A>G (p.Y327C), ANO10(NM_001204831.3):c.980A>G (p.Y327C) - ANO10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-114119T>C r.(?) p.(=) Unknown - likely benign g.43618366T>C g.43576874T>C ANO10(NM_001204831.2):c.980A>G (p.Y327C), ANO10(NM_001204831.3):c.980A>G (p.Y327C) - ANO10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-114103C>T r.(?) p.(=) Unknown - VUS g.43618382C>T g.43576890C>T ANO10(NM_001204831.2):c.964G>A (p.V322M) - ANO10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-114063G>A r.(?) p.(=) Unknown - likely benign g.43618422G>A g.43576930G>A ANO10(NM_001204831.2):c.924C>T (p.Y308=) - ANO10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-113929C>T r.(?) p.(=) Unknown - likely benign g.43618556C>T g.43577064C>T ANO10(NM_001204831.2):c.790G>A (p.G264S) - ANO10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-113927C>T r.(?) p.(=) Unknown - benign g.43618558C>T g.43577066C>T ANO10(NM_018075.4):c.788G>A (p.R263H) - ANO10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-113927C>T r.(?) p.(=) Unknown - likely benign g.43618558C>T g.43577066C>T ANO10(NM_018075.4):c.788G>A (p.R263H) - ANO10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-113824C>A r.(?) p.(=) Unknown - VUS g.43618661C>A g.43577169C>A - - ANO10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-110534G>A r.(?) p.(=) Unknown - benign g.43621951G>A g.43580459G>A ANO10(NM_018075.4):c.486C>T (p.L162=) - ANO10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-110515C>T r.(?) p.(=) Unknown - likely benign g.43621970C>T g.43580478C>T ANO10(NM_001204831.2):c.473-6G>A - ANO10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-92471_-92469del r.(?) p.(=) Unknown - likely benign g.43640014_43640016del g.43598522_43598524del ANO10(NM_001204831.2):c.472+10_472+12delTAT - ABHD5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-90508A>C r.(?) p.(=) Unknown - VUS g.43641977A>C g.43600485A>C ANO10(NM_001204831.2):c.236T>G (p.M79R) - ANO10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-90495A>T r.(?) p.(=) Unknown - VUS g.43641990A>T g.43600498A>T - - ANO10_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-90422C>G r.(?) p.(=) Unknown - VUS g.43642063C>G - ANO10(NM_001346464.1):c.150G>C (p.L50F) - ABHD5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-85145T>A r.(?) p.(=) Unknown - likely benign g.43647340T>A g.43605848T>A ANO10(NM_001204831.2):c.5A>T (p.K2I) - ABHD5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-69013A>G r.(?) p.(=) Unknown - likely benign g.43663472A>G g.43621980A>G - - ANO10_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12G>A r.(?) p.(Glu4=) Unknown - benign g.43732496G>A g.43691004G>A ABHD5(NM_016006.6):c.12G>A (p.E4=) - ABHD5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14A>C r.(?) p.(Glu5Ala) Unknown - VUS g.43732498A>C - ABHD5(NM_016006.4):c.14A>C (p.(Glu5Ala)) - ABHD5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26A>G r.(?) p.(Asp9Gly) Unknown - likely benign g.43732510A>G g.43691018A>G ABHD5(NM_016006.5):c.26A>G (p.D9G) - ABHD5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201G>C r.(?) p.(Lys67Asn) Unknown - likely benign g.43743774G>C g.43702282G>C ABHD5(NM_016006.4):c.201G>C (p.(Lys67Asn)), ABHD5(NM_016006.6):c.201G>C (p.K67N) - ABHD5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.201G>C r.(?) p.(Lys67Asn) Unknown - VUS g.43743774G>C g.43702282G>C ABHD5(NM_016006.4):c.201G>C (p.(Lys67Asn)), ABHD5(NM_016006.6):c.201G>C (p.K67N) - ABHD5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341G>T r.(?) p.(Arg114Leu) Parent #1 - likely benign g.43743914G>T g.43702422G>T - - ABHD5_000015 32 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148743497 Germline - 32/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 32 Mohammed Faruq
?/. - c.525A>C r.(?) p.(Leu175Phe) Unknown - VUS g.43753219A>C - ABHD5(NM_016006.4):c.525A>C (p.(Leu175Phe)) - ABHD5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598G>A r.(?) p.(Ala200Thr) Unknown - VUS g.43753292G>A g.43711800G>A ABHD5(NM_016006.4):c.598G>A (p.(Ala200Thr)) - ABHD5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.778G>A r.(?) p.(Glu260Lys) Parent #1 - pathogenic g.43759167G>A g.43717675G>A - - ABHD5_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28939078 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.792G>A r.(?) p.(=) Unknown - likely benign g.43759181G>A - ABHD5(NM_016006.6):c.792G>A (p.(Lys264=)) - ABHD5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.895T>C r.(?) p.(Cys299Arg) Unknown - VUS g.43759284T>C - ABHD5(NM_016006.6):c.895T>C (p.(Cys299Arg)) - ABHD5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.