Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000153.3(GALC):c.2041G>A (p.Val681Met) | 2581 | GALC | Uncertain significance | 200607029 | RCV000206966; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88401093 | 88401093 | NM_000153.3:c.2041G>A | NP_000144.2:p.Val681Met | NC_000014.8:g.88401093C>T | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.1796T>G (p.Ile599Ser) | 2581 | GALC | Pathogenic | 387906953 | RCV000023589; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88407777 | 88407777 | NM_000153.3:c.1796T>G | NP_000144.2:p.Ile599Ser | NC_000014.8:g.88407777A>C | OMIM Allelic Variant:606890.0004 | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.1700A>C (p.Tyr567Ser) | 2581 | GALC | Likely pathogenic | 752537626 | RCV000169344; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88407873 | 88407873 | NM_000153.3:c.1700A>C | NP_000144.2:p.Tyr567Ser | NC_000014.8:g.88407873T>G | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.1657G>A (p.Gly553Arg) | 2581 | GALC | Likely pathogenic | 748573754 | RCV000169525; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88411910 | 88411910 | NM_000153.3:c.1657G>A | NP_000144.2:p.Gly553Arg | NC_000014.8:g.88411910C>T | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.1630G>A (p.Asp544Asn) | 2581 | GALC | Pathogenic | 387906952 | RCV000023588; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88411937 | 88411937 | NM_000153.3:c.1630G>A | NP_000144.2:p.Asp544Asn | NC_000014.8:g.88411937C>T | OMIM Allelic Variant:606890.0003 | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.1592G>A (p.Arg531His) | 2581 | GALC | Pathogenic | 200378205 | RCV000174662; RCV000153296; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005; MedGen:CN221809 | 14 | 88411975 | 88411975 | NM_000153.3:c.1592G>A | NP_000144.2:p.Arg531His | NC_000014.8:g.88411975C>T | HGMD:CM990620 | C0023521 245200 Galactosylceramide beta-galactosidase deficiency; CN221809 not provided | | |
NM_000153.3(GALC):c.1591C>T (p.Arg531Cys) | 2581 | GALC | Likely pathogenic | 749893889 | RCV000169377; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88411976 | 88411976 | NM_000153.3:c.1591C>T | NP_000144.2:p.Arg531Cys | NC_000014.8:g.88411976G>A | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.1543G>A (p.Glu515Lys) | 2581 | GALC | Likely pathogenic | 794727116 | RCV000174663; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88412024 | 88412024 | NM_000153.3:c.1543G>A | NP_000144.2:p.Glu515Lys | NC_000014.8:g.88412024C>T | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.1472delA (p.Lys491Argfs) | 2581 | GALC | Pathogenic | 771489305 | RCV000169172; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88414089 | 88414089 | NM_000153.3:c.1472delA | NP_000144.2:p.Lys491Argfs | NC_000014.8:g.88414089delT | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.1161+2T>G | 2581 | GALC | Pathogenic | 398123175 | RCV000173647; RCV000078189; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005; MedGen:CN221809 | 14 | 88429726 | 88429726 | NM_000153.3:c.1161+2T>G | | NC_000014.8:g.88429726A>C | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency; CN221809 not provided | | |
NM_000153.3(GALC):c.1153G>T (p.Glu385Ter) | 2581 | GALC | Pathogenic | 121908010 | RCV000004022; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88429736 | 88429736 | NM_000153.3:c.1153G>T | NP_000144.2:p.Glu385Ter | NC_000014.8:g.88429736C>A | OMIM Allelic Variant:606890.0001 | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.955delT (p.Tyr319Metfs) | 2581 | GALC | Likely pathogenic | 786204454 | RCV000169089; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88431927 | 88431927 | NM_000153.3:c.955delT | NP_000144.2:p.Tyr319Metfs | NC_000014.8:g.88431927delA | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.953C>G (p.Pro318Arg) | 2581 | GALC | Pathogenic | 387906954 | RCV000023594; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88431929 | 88431929 | NM_000153.3:c.953C>G | NP_000144.2:p.Pro318Arg | NC_000014.8:g.88431929G>C | OMIM Allelic Variant:606890.0009 | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.908+1G>A | 2581 | GALC | Likely pathogenic | 750524447 | RCV000169153; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88434678 | 88434678 | NM_000153.3:c.908+1G>A | | NC_000014.8:g.88434678C>T | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.862T>C (p.Trp288Arg) | 2581 | GALC | Likely pathogenic | 398123177 | RCV000180100; RCV000078208; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005; MedGen:CN221809 | 14 | 88434725 | 88434725 | NM_000153.3:c.862T>C | NP_000144.2:p.Trp288Arg | NC_000014.8:g.88434725A>G | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency; CN221809 not provided | | |
NM_000153.3(GALC):c.857G>A (p.Gly286Asp) | 2581 | GALC | Likely pathogenic;Pathogenic | 199847983 | RCV000023593; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88434730 | 88434730 | NM_000153.3:c.857G>A | NP_000144.2:p.Gly286Asp | NC_000014.8:g.88434730C>T | OMIM Allelic Variant:606890.0008 | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.658C>T (p.Arg220Ter) | 2581 | GALC | Likely pathogenic | 766310671 | RCV000169413; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88442796 | 88442796 | NM_000153.3:c.658C>T | NP_000144.2:p.Arg220Ter | NC_000014.8:g.88442796G>A | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.599C>A (p.Ser200Ter) | 2581 | GALC | Likely pathogenic | 786204618 | RCV000169386; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88448571 | 88448571 | NM_000153.3:c.599C>A | NP_000144.2:p.Ser200Ter | NC_000014.8:g.88448571G>T | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.489G>A (p.Trp163Ter) | 2581 | GALC | Likely pathogenic | 761550284 | RCV000169212; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88450831 | 88450831 | NM_000153.3:c.489G>A | NP_000144.2:p.Trp163Ter | NC_000014.8:g.88450831C>T | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.430delA (p.Ile144Leufs) | 2581 | GALC | Pathogenic | 775277935 | RCV000178046; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88452845 | 88452845 | NM_000153.3:c.430delA | NP_000144.2:p.Ile144Leufs | NC_000014.8:g.88452845delT | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.388G>A (p.Glu130Lys) | 2581 | GALC | Likely pathogenic | 374635469 | RCV000169155; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88452887 | 88452887 | NM_000153.3:c.388G>A | NP_000144.2:p.Glu130Lys | NC_000014.8:g.88452887C>T | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.334A>G (p.Thr112Ala) | 2581 | GALC | Pathogenic | 147313927 | RCV000178047; RCV000078200; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005; MedGen:CN221809 | 14 | 88452941 | 88452941 | NM_000153.3:c.334A>G | NP_000144.2:p.Thr112Ala | NC_000014.8:g.88452941T>C | HGMD:CM960678 | C0023521 245200 Galactosylceramide beta-galactosidase deficiency; CN221809 not provided | | |
NM_000153.3(GALC):c.331G>A (p.Gly111Ser) | 2581 | GALC | Pathogenic | 756690487 | RCV000195270; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88452944 | 88452944 | NM_000153.3:c.331G>A | NP_000144.2:p.Gly111Ser | NC_000014.8:g.88452944C>T | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.205C>T (p.Arg69Ter) | 2581 | GALC | Pathogenic | 771111145 | RCV000175531; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88454858 | 88454858 | NM_000153.3:c.205C>T | NP_000144.2:p.Arg69Ter | NC_000014.8:g.88454858G>A | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.169G>A (p.Gly57Ser) | 2581 | GALC | Pathogenic | 11623 | RCV000173074; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88459340 | 88459340 | NM_000153.3:c.169G>A | NP_000144.2:p.Gly57Ser | NC_000014.8:g.88459340C>T | - | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |
NM_000153.3(GALC):c.121G>A (p.Gly41Ser) | 2581 | GALC | Pathogenic | 387906955 | RCV000023595; | N | MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005 | 14 | 88459388 | 88459388 | NM_000153.3:c.121G>A | NP_000144.2:p.Gly41Ser | NC_000014.8:g.88459388C>T | OMIM Allelic Variant:606890.0010 | C0023521 245200 Galactosylceramide beta-galactosidase deficiency | | |