Unique variants in gene HEXA

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

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 benign r.(?) p.(=) g.72668539T>C - - - HEXA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1A>T pathogenic r.(?) p.? g.72668313T>A - HEXA(NM_000520.5):c.1A>T (p.M1?) - HEXA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.8G>C likely benign r.(?) p.(Ser3Thr) g.72668306C>G - HEXA(NM_001318825.1):c.8G>C (p.S3T) - chr15_005155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.9C>T benign r.(?) p.(=) g.72668305G>A - HEXA(NM_000520.5):c.9C>T (p.S3=) - HEXA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.65C>T VUS r.(?) p.(Ala22Val) g.72668249G>A - HEXA(NM_000520.4):c.65C>T (p.(Ala22Val)) - HEXA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.234G>A pathogenic r.(?) p.(Trp78*) g.72668080C>T - - - HEXA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.409C>T pathogenic r.(?) p.(Arg137*) g.72647903G>A - - - HEXA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.508C>T pathogenic r.(?) p.(Arg170Trp) g.72645471G>A - HEXA(NM_000520.5):c.508C>T (p.R170W) - HEXA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/. 2 - c.533G>A pathogenic r.(?) p.(Arg178His) 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
?/. 1 - c.548T>A VUS r.(?) p.(Leu183His) g.72645431A>T - HEXA(NM_000520.5):c.548T>A (p.L183H) - HEXA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.672+30T>G benign r.(=) p.(=) g.72643444A>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
?/., -?/. 2 - c.739C>T VUS, likely benign r.(?) p.(Arg247Trp) g.72642925G>A - HEXA(NM_000520.5):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W) - HEXA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 - c.745C>T pathogenic r.(?) p.(Arg249Trp) g.72642919G>A - HEXA(NM_000520.5):c.745C>T (p.R249W) - HEXA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.746G>A VUS r.(?) p.(Arg249Gln) g.72642918C>T - HEXA(NM_001318825.1):c.779G>A (p.R260Q) - HEXA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.749G>A pathogenic r.(?) p.(Gly250Asp) g.72642915C>T - HEXA(NM_000520.5):c.749G>A (p.G250D) - HEXA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.759G>A benign, likely benign r.(?) p.(=) g.72642905C>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
?/., +/. 2 - c.805G>A pathogenic r.(?) p.(Gly269Ser) g.72642859C>T g.72350518C>T HEXA(NM_000520.5):c.805G>A (p.G269S) - HEXA_000004 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, VKGL-NL
+/. 1 - c.805+1G>A pathogenic r.spl? p.? g.72642858C>T - HEXA(NM_000520.5):c.805+1G>A - HEXA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 8 c.915_917del - r.(?) p.(Phe305del) g.72641489_72641491del g.72349148_72349150del 915_917delCTT - HEXA_000005 - - - - Germline - - - - - Claire Guissart
?/., +/. 2 - c.1073+1G>A pathogenic r.(=), r.spl? p.(=), p.? g.72640388C>T g.72348047C>T INTRON 9, IVS9+1G>A, CHR15:70427442G>A, HEXA(NM_000520.5):c.1073+1G>A - HEXA_000001 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, VKGL-NL
-/. 1 - c.1074-94C>A benign r.(=) p.(=) g.72640193G>T - HEXA(NM_000520.5):c.1074-94C>A - HEXA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1107C>T likely benign r.(?) p.(=) g.72640066G>A - HEXA(NM_000520.5):c.1107C>T (p.G369=) - HEXA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1154C>T VUS r.(?) p.(Pro385Leu) g.72639044G>A - - - HEXA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1216C>T likely benign r.(?) p.(=) g.72638982G>A - HEXA(NM_001318825.1):c.1249C>T (p.L417=) - HEXA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1273_1274insTATC - r.(?) p.(Tyr427Ilefs*5) g.72638924_72638925insGATA g.72346583_72346584insGATA - - HEXA_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 - c.1274_1277dup likely pathogenic r.(?) p.(Tyr427Ilefs*5) g.72638921_72638924dup - HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)) - HEXA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1306A>G benign r.(?) p.(Ile436Val) g.72638892T>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 likely benign r.(?) p.(=) g.72638659A>G - HEXA(NM_000520.5):c.1338T>C (p.P446=) - HEXA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1421+1G>C pathogenic r.spl? p.? g.72638575C>G - HEXA(NM_000520.5):c.1421+1G>C - HEXA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1422-69G>A benign r.(=) p.(=) g.72637960C>T - HEXA(NM_000520.5):c.1422-69G>A - HEXA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1432G>A pathogenic r.(?) p.(Gly478Arg) g.72637881C>T - - - HEXA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1443C>T likely benign r.(?) p.(=) g.72637870G>A - HEXA(NM_001318825.1):c.1476C>T (p.A492=) - HEXA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1490A>G VUS r.(?) p.(Tyr497Cys) g.72637823T>C - HEXA(NM_000520.5):c.1490A>G (p.Y497C) - HEXA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1496G>A pathogenic r.(?) p.(Arg499His) g.72637817C>T - HEXA(NM_000520.5):c.1496G>A (p.R499H) - HEXA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1518A>G benign r.(?) p.(=) g.72637795T>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 likely benign r.(=) p.(=) g.72636487A>G - HEXA(NM_000520.5):c.1527-6T>C - HEXA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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