Unique variants in the HEXA gene

Information The variants shown are described using the NM_000520.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.-226A>G r.(?) p.(=) - benign g.72668539T>C g.72376198T>C - - HEXA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1A>T r.(?) p.(Met1?) - pathogenic g.72668313T>A g.72375972T>A HEXA(NM_000520.5):c.1A>T (p.M1?) - HEXA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.8G>C r.(?) p.(Ser3Thr) - likely benign g.72668306C>G g.72375965C>G HEXA(NM_001318825.1):c.8G>C (p.S3T) - HEXA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.9C>T r.(?) p.(Ser3=) - benign g.72668305G>A g.72375964G>A HEXA(NM_000520.5):c.9C>T (p.S3=) - HEXA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.65C>T r.(?) p.(Ala22Val) - VUS g.72668249G>A g.72375908G>A HEXA(NM_000520.4):c.65C>T (p.(Ala22Val)) - HEXA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.234G>A r.(?) p.(Trp78Ter) - pathogenic g.72668080C>T g.72375739C>T - - HEXA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., +/. 2 - c.409C>T r.(?) p.(Arg137*), p.(Arg137Ter) - likely pathogenic (recessive), pathogenic g.72647903G>A g.72355562G>A - - HEXA_000022 VKGL data sharing initiative Nederland PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs121907962 Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 - c.508C>T r.(?) p.(Arg170Trp) - pathogenic g.72645471G>A g.72353130G>A HEXA(NM_000520.5):c.508C>T (p.R170W) - HEXA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., +?/., +/. 3 - c.533G>A r.(?) p.(Arg178His) - VUS, likely pathogenic, pathogenic g.72645446C>T g.72353105C>T HEXA(NM_000520.5):c.533G>A (p.R178H) - HEXA_000003 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 - c.548T>A r.(?) p.(Leu183His) - VUS g.72645431A>T g.72353090A>T HEXA(NM_000520.5):c.548T>A (p.L183H) - HEXA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.590A>C r.(?) p.(Lys197Thr) - VUS g.72643556T>G - - - HEXA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.672+30T>G r.(=) p.(=) - benign g.72643444A>C g.72351103A>C HEXA(NM_000520.5):c.672+30T>G, HEXA(NM_001318825.1):c.705+30T>G - HEXA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/., -?/. 3 - c.739C>T r.(?) p.(Arg247Trp) - VUS, likely benign g.72642925G>A g.72350584G>A 1 more item - HEXA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Leiden
+/. 1 - c.745C>T r.(?) p.(Arg249Trp) - pathogenic g.72642919G>A g.72350578G>A HEXA(NM_000520.5):c.745C>T (p.R249W) - HEXA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.746G>A r.(?) p.(Arg249Gln) - VUS g.72642918C>T g.72350577C>T HEXA(NM_001318825.1):c.779G>A (p.R260Q) - HEXA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.749G>A r.(?) p.(Gly250Asp) - pathogenic g.72642915C>T g.72350574C>T HEXA(NM_000520.5):c.749G>A (p.G250D) - HEXA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.759G>A r.(?) p.(Val253=) - benign, likely benign g.72642905C>T g.72350564C>T HEXA(NM_000520.5):c.759G>A (p.V253=) - HEXA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
?/., +/. 3 - c.805G>A r.(?) p.(Gly269Ser) ACMG VUS, pathogenic g.72642859C>T g.72350518C>T HEXA(NM_000520.5):c.805G>A (p.G269S) - HEXA_000004 Navon et al. 1989. Science 243: 1471, VKGL data sharing initiative Nederland - - rs121907954 Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, Andreas Laner, VKGL-NL_Groningen
+/. 1 - c.805+1G>A r.spl? p.? - pathogenic g.72642858C>T g.72350517C>T HEXA(NM_000520.5):c.805+1G>A - HEXA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 8 c.915_917del r.(?) p.(Phe305del) - pathogenic g.72641494_72641496del g.72349153_72349155del 915_917delCTT - HEXA_000005 - - - - Germline - - - - - Claire Guissart
+/., ?/. 3 - c.1073+1G>A r.(?), r.(=), r.spl? p.(?), p.(=), p.? ACMG pathogenic, VUS g.72640388C>T g.72348047C>T INTRON 9, IVS9+1G>A, CHR15:70427442G>A, HEXA(NM_000520.5):c.1073+1G>A - HEXA_000001 ACMG: PVS1,PM2,PM3; phase unknown, sister also affected, VKGL data sharing initiative Nederland - - rs76173977 Germline, CLASSIFICATION record - - - - - Andreas Laner, Gerard C.P. Schaafsma, VKGL-NL_Groningen
-/. 1 - c.1074-94C>A r.(=) p.(=) - benign g.72640193G>T g.72347852G>T HEXA(NM_000520.5):c.1074-94C>A - HEXA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1107C>T r.(?) p.(Gly369=) - likely benign g.72640066G>A g.72347725G>A HEXA(NM_000520.5):c.1107C>T (p.G369=) - HEXA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/., +?/. 2 - c.1154C>T r.(?) p.(Pro385Leu) - VUS, likely pathogenic (recessive) g.72639044G>A g.72346703G>A - - HEXA_000021 VKGL data sharing initiative Nederland PubMed: Grozeva 2015, Journal: Grozeva 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Johan den Dunnen
?/. 1 - c.1178G>A r.(?) p.(Arg393Gln) - VUS g.72639020C>T g.72346679C>T - - HEXA_000040 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs370266293 Germline - 5/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.1182G>C r.(?) p.(Glu394Asp) - likely benign g.72639016C>G - HEXA(NM_001318825.1):c.1215G>C (p.E405D) - HEXA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1216C>T r.(?) p.(Leu406=) - likely benign g.72638982G>A g.72346641G>A HEXA(NM_001318825.1):c.1249C>T (p.L417=) - HEXA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., +?/., +/. 3 - c.1274_1277dup r.(?) p.(Tyr427Ilefs*5), p.(Tyr427IlefsTer5) - VUS, likely pathogenic, pathogenic g.72638921_72638924dup g.72346580_72346583dup 1 more item - HEXA_000002, HEXA_000020 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 - c.1305C>T r.(?) p.(Tyr435Tyr) ACMG pathogenic g.72638893G>A g.72346552G>A - - HEXA_000038 1 more item - - rs587779406 Germline - - - - - Andreas Laner
-/. 3 - c.1306A>G r.(?) p.(Ile436Val) - benign g.72638892T>C g.72346551T>C HEXA(NM_000520.5):c.1306A>G (p.I436V) - HEXA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.1338T>C r.(?) p.(Pro446=) - likely benign g.72638659A>G g.72346318A>G HEXA(NM_000520.5):c.1338T>C (p.P446=) - HEXA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1421+1G>C r.spl? p.? - pathogenic g.72638575C>G g.72346234C>G HEXA(NM_000520.5):c.1421+1G>C - HEXA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1422-69G>A r.(=) p.(=) - benign g.72637960C>T g.72345619C>T HEXA(NM_000520.5):c.1422-69G>A - HEXA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1432G>A r.(?) p.(Gly478Arg) - pathogenic g.72637881C>T g.72345540C>T - - HEXA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1435G>A r.(?) p.(Ala479Thr) - likely benign g.72637878C>T g.72345537C>T - - HEXA_000039 1 homozygous; Clinindb (India), 39 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145012038 Germline - 1/2795 individuals, 39/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.1443C>T r.(?) p.(Ala481=) - likely benign g.72637870G>A g.72345529G>A HEXA(NM_001318825.1):c.1476C>T (p.A492=) - HEXA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1490A>G r.(?) p.(Tyr497Cys) - VUS g.72637823T>C g.72345482T>C HEXA(NM_000520.5):c.1490A>G (p.Y497C) - HEXA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1496G>A r.(?) p.(Arg499His) - pathogenic g.72637817C>T g.72345476C>T HEXA(NM_000520.5):c.1496G>A (p.R499H) - HEXA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.1518A>G r.(?) p.(Glu506=) - benign g.72637795T>C g.72345454T>C HEXA(NM_000520.5):c.1518A>G (p.E506=) - HEXA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.1527-6T>C r.(=) p.(=) - likely benign g.72636487A>G g.72344146A>G HEXA(NM_000520.5):c.1527-6T>C - HEXA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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