All transcript variants in gene GALC

Information The variants shown are described using the NM_000153.3 transcript reference sequence.

150 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
-?/. - c.-327G>C r.(?) p.(=) - likely benign g.88459835C>G g.87993491C>G GALC(NM_001201402.1):c.9G>C (p.G3=) - GALC_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-327G>T r.(?) p.(=) - likely benign g.88459835C>A g.87993491C>A GALC(NM_001201402.1):c.9G>T (p.G3=) - GALC_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-327G>T r.(?) p.(=) - VUS g.88459835C>A g.87993491C>A GALC(NM_001201402.1):c.9G>T (p.G3=) - GALC_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-318T>C r.(?) p.(=) - likely benign g.88459826A>G g.87993482A>G GALC(NM_001201402.1):c.18T>C (p.H6=) - GALC_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-318T>C r.(?) p.(=) - likely benign g.88459826A>G g.87993482A>G GALC(NM_001201402.1):c.18T>C (p.H6=) - GALC_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-287G>A r.(?) p.(=) - benign g.88459795C>T g.87993451C>T GALC(NM_001201402.1):c.49G>A (p.A17T) - GALC_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-285G>A r.(?) p.(=) - likely benign g.88459793C>T g.87993449C>T GALC(NM_001201402.1):c.51G>A (p.A17=) - GALC_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-275A>G r.(?) p.(=) - likely benign g.88459783T>C g.87993439T>C GALC(NM_001201402.1):c.61A>G (p.(Ile21Val)) - GALC_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.41C>G r.(?) p.(Ala14Gly) - likely benign g.88459468G>C g.87993124G>C GALC(NM_000153.3):c.41C>G (p.A14G, p.(Ala14Gly)) - GALC_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.41C>G r.(?) p.(Ala14Gly) - likely benign g.88459468G>C g.87993124G>C GALC(NM_000153.3):c.41C>G (p.A14G, p.(Ala14Gly)) - GALC_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.42G>C r.(?) p.(Ala14=) - benign g.88459467C>G g.87993123C>G GALC(NM_000153.3):c.42G>C (p.A14=) - GALC_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.42G>C r.(?) p.(Ala14=) - benign g.88459467C>G g.87993123C>G GALC(NM_000153.3):c.42G>C (p.A14=) - GALC_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.60C>T r.(?) p.(Ala20=) - likely benign g.88459449G>A g.87993105G>A GALC(NM_000153.3):c.60C>T (p.A20=) - GALC_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.60C>T r.(?) p.(Ala20=) - likely benign g.88459449G>A - GALC(NM_000153.3):c.60C>T (p.A20=) - GALC_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.61G>C r.(?) p.(Ala21Pro) - benign g.88459448C>G g.87993104C>G GALC(NM_000153.3):c.61G>C (p.A21P) - GALC_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.61G>C r.(?) p.(Ala21Pro) - benign g.88459448C>G g.87993104C>G GALC(NM_000153.3):c.61G>C (p.A21P) - GALC_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.61G>C r.(?) p.(Ala21Pro) - benign g.88459448C>G g.87993104C>G GALC(NM_000153.3):c.61G>C (p.A21P) - GALC_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.65G>A r.(?) p.(Gly22Asp) - likely benign g.88459444C>T g.87993100C>T GALC(NM_000153.3):c.65G>A (p.G22D) - GALC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.65G>C r.(?) p.(Gly22Ala) - VUS g.88459444C>G g.87993100C>G GALC(NM_000153.3):c.65G>C (p.G22A) - GALC_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.75C>A r.(?) p.(Gly25=) - benign g.88459434G>T g.87993090G>T GALC(NM_000153.3):c.75C>A (p.G25=) - GALC_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.75C>A r.(?) p.(Gly25=) - benign g.88459434G>T g.87993090G>T GALC(NM_000153.3):c.75C>A (p.G25=) - GALC_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.82G>A r.(?) p.(Ala28Thr) - likely benign g.88459427C>T - GALC(NM_000153.3):c.82G>A (p.A28T) - GALC_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.96G>T r.(?) p.(Leu32=) - benign g.88459413C>A g.87993069C>A GALC(NM_000153.3):c.96G>T (p.L32=) - GALC_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.154G>A r.(?) p.(Gly52Ser) - VUS g.88459355C>T g.87993011C>T GALC(NM_000153.3):c.154G>A (p.G52S) - GALC_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.158G>C r.(?) p.(Arg53Pro) - VUS g.88459351C>G g.87993007C>G GALC(NM_000153.3):c.158G>C (p.R53P) - GALC_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.195+10A>G r.(=) p.(=) - benign g.88459304T>C g.87992960T>C GALC(NM_000153.3):c.195+10A>G - GALC_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.195+19G>A r.(=) p.(=) - likely benign g.88459295C>T g.87992951C>T GALC(NM_000153.3):c.195+19G>A - GALC_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.196-9T>C r.(=) p.(=) - likely benign g.88454876A>G g.87988532A>G GALC(NM_000153.3):c.196-9T>C - GALC_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.196-3dup r.spl? p.? - likely benign g.88454879dup g.87988535dup GALC(NM_000153.3):c.196-3dupT - GALC_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 4 c.196G>A r.(?) p.(Ala66Thr) ACMG likely pathogenic g.88454867C>T g.87988523C>T - - GALC_000057 - PubMed: Tumienė 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.264+1G>A r.spl? p.? - pathogenic g.88454798C>T g.87988454C>T GALC(NM_000153.3):c.264+1G>A - GALC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.264+17T>G r.(=) p.(=) - benign g.88454782A>C g.87988438A>C GALC(NM_000153.3):c.264+17T>G - GALC_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.328+1G>T r.spl? p.? - likely pathogenic g.88454487C>A g.87988143C>A GALC(NM_000153.3):c.328+1G>T - GALC_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.328+6A>G r.(=) p.(=) - likely benign g.88454482T>C g.87988138T>C GALC(NM_000153.3):c.328+6A>G - GALC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.328+6A>G r.(=) p.(=) - likely benign g.88454482T>C g.87988138T>C GALC(NM_000153.3):c.328+6A>G - GALC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.328+19T>A r.(=) p.(=) - benign g.88454469A>T g.87988125A>T GALC(NM_000153.3):c.328+19T>A - GALC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.328+19T>A r.(=) p.(=) - benign g.88454469A>T g.87988125A>T GALC(NM_000153.3):c.328+19T>A - GALC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.329-10_329-8del r.(=) p.(=) - likely benign g.88452957_88452959del g.87986613_87986615del GALC(NM_000153.3):c.329-10_329-8delCTC - GALC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.329-10_329-8del r.(=) p.(=) - likely benign g.88452957_88452959del g.87986613_87986615del GALC(NM_000153.3):c.329-10_329-8delCTC - GALC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.330C>T r.(?) p.(Asp110=) - benign g.88452945G>A g.87986601G>A GALC(NM_000153.3):c.330C>T (p.D110=) - GALC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.330C>T r.(?) p.(Asp110=) - benign g.88452945G>A g.87986601G>A GALC(NM_000153.3):c.330C>T (p.D110=) - GALC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.330C>T r.(?) p.(Asp110=) - benign g.88452945G>A g.87986601G>A GALC(NM_000153.3):c.330C>T (p.D110=) - GALC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.330C>T r.(=) p.(=) - likely benign g.88452945G>A g.87986601G>A - - GALC_000039 95 heterozygous; Clinindb (India) Faruq 2020, submtted - rs11552556 Germline - 95/2795 individuals - 0 - Mohammed Faruq
-?/. - c.330C>T r.(=) p.(=) - likely benign g.88452945G>A g.87986601G>A - - GALC_000039 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs11552556 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 4 c.334A>G r.(?) p.(Thr112Ala) - pathogenic g.88452941T>C g.87986597T>C - - GALC_000004 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.334A>G r.(?) p.(Thr112Ala) - VUS g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A) - GALC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.334A>G r.(?) p.(Thr112Ala) - VUS g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A) - GALC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.334A>G r.(?) p.(Thr112Ala) - VUS g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A) - GALC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.334A>G r.(?) p.(Thr112Ala) - VUS g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A) - GALC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.334A>G r.(?) p.(Thr112Ala) - VUS g.88452941T>C g.87986597T>C - - GALC_000004 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs147313927 Germline - 7/2793 individuals - 0 - Mohammed Faruq
-/. - c.397T>C r.(?) p.(Leu133=) - benign g.88452878A>G g.87986534A>G GALC(NM_000153.3):c.397T>C (p.L133=) - GALC_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.409G>T r.(?) p.(Ala137Ser) - VUS g.88452866C>A g.87986522C>A GALC(NM_000153.3):c.409G>T (p.A137S) - GALC_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.411_413del r.(?) p.(Lys139del) - likely pathogenic g.88452862_88452864del g.87986518_87986520del GALC(NM_000153.3):c.411_413delTAA (p.K139del) - GALC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.430del r.(?) p.(Ile144LeufsTer27) - pathogenic g.88452845del g.87986501del GALC(NM_000153.3):c.430delA (p.I144Lfs*27) - GALC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.443-11T>G r.(=) p.(=) - likely benign g.88450888A>C g.87984544A>C GALC(NM_000153.3):c.443-11T>G - GALC_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.461C>A r.(?) p.(Pro154His) - likely benign g.88450859G>T g.87984515G>T GALC(NM_000153.3):c.461C>A (p.P154H) - GALC_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.525C>T r.(?) p.(Val175=) - likely benign g.88450795G>A g.87984451G>A GALC(NM_000153.3):c.525C>T (p.V175=) - GALC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.525C>T r.(?) p.(Val175=) - likely benign g.88450795G>A g.87984451G>A GALC(NM_000153.3):c.525C>T (p.V175=) - GALC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.530C>A r.(?) p.(Thr177Asn) - likely benign g.88450790G>T g.87984446G>T GALC(NM_000153.3):c.530C>A (p.T177N) - GALC_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.542G>A r.(?) p.(Gly181Asp) - likely pathogenic g.88450778C>T g.87984434C>T GALC(NM_000153.3):c.542G>A (p.G181D) - GALC_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 5 c.550C>T r.(?) p.(Arg184Cys) - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
-/. - c.550C>T r.(?) p.(Arg184Cys) - benign g.88450770G>A g.87984426G>A GALC(NM_000153.3):c.550C>T (p.R184C) - GALC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.550C>T r.(?) p.(Arg184Cys) - benign g.88450770G>A g.87984426G>A GALC(NM_000153.3):c.550C>T (p.R184C) - GALC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.550C>T r.(?) p.(Arg184Cys) - likely benign g.88450770G>A g.87984426G>A - - GALC_000001 160 heterozygous; Clinindb (India) Faruq 2020, submtted - rs1805078 Germline - 160/2795 individuals - 0 - Mohammed Faruq
-?/. - c.550C>T r.(?) p.(Arg184Cys) - likely benign g.88450770G>A g.87984426G>A - - GALC_000001 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs1805078 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. - c.621+1G>A r.spl? p.? - pathogenic g.88448548C>T g.87982204C>T GALC(NM_000153.3):c.621+1G>A - GALC_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.621+15A>G r.(=) p.(=) - likely benign g.88448534T>C g.87982190T>C GALC(NM_000153.3):c.621+15A>G - GALC_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.621+24T>C r.(=) p.(=) - benign g.88448525A>G g.87982181A>G GALC(NM_000153.3):c.621+24T>C - GALC_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.742G>A r.(?) p.(Asp248Asn) - benign g.88442712C>T g.87976368C>T GALC(NM_000153.3):c.742G>A (p.D248N) - GALC_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.742G>A r.(?) p.(Asp248Asn) - benign g.88442712C>T g.87976368C>T GALC(NM_000153.3):c.742G>A (p.D248N) - GALC_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 9 c.850G>A r.(?) p.(Gly284Ser) ACMG likely pathogenic g.88434737C>T g.87968393C>T - - GALC_000056 - PubMed: Tumienė 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.857G>A r.(?) p.(Gly286Asp) - likely pathogenic g.88434730C>T g.87968386C>T - - GALC_000088 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs199847983 Germline - 1/2795 individuals - 0 - Mohammed Faruq
./. 9 c.913A>G r.(?) p.(Ile305Val) - VUS g.88431969T>C g.87965625T>C - - GALC_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 9 c.913A>G r.(?) p.(Ile305Val) - VUS g.88431969T>C g.87965625T>C - - GALC_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
-/. - c.913A>G r.(?) p.(Ile305Val) - benign g.88431969T>C g.87965625T>C GALC(NM_000153.3):c.913A>G (p.I305V) - GALC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.916G>A r.(?) p.(Ala306Thr) - VUS g.88431966C>T g.87965622C>T GALC(NM_000153.3):c.916G>A (p.A306T) - GALC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.927A>C r.(?) p.(Leu309Phe) - VUS g.88431955T>G g.87965611T>G GALC(NM_000153.3):c.927A>C (p.L309F) - GALC_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.956A>G r.(?) p.(Tyr319Cys) - VUS g.88431926T>C g.87965582T>C GALC(NM_000153.3):c.956A>G (p.Y319C) - GALC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.956A>G r.(?) p.(Tyr319Cys) - VUS g.88431926T>C g.87965582T>C - - GALC_000029 conflicting interpretations of pathogenicity; 43 heterozygous; Clinindb (India) Faruq 2020, submtted - rs183105855 Germline - 43/2795 individuals - 0 - Mohammed Faruq
?/. - c.956A>G r.(?) p.(Tyr319Cys) - VUS g.88431926T>C g.87965582T>C - - GALC_000029 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs183105855 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-/. - c.984G>A r.(?) p.(Gln328=) - benign g.88431898C>T g.87965554C>T GALC(NM_000153.3):c.984G>A (p.Q328=) - GALC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.984G>A r.(?) p.(Gln328=) - benign g.88431898C>T g.87965554C>T GALC(NM_000153.3):c.984G>A (p.Q328=) - GALC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.984G>A r.(?) p.(Gln328=) - benign g.88431898C>T g.87965554C>T GALC(NM_000153.3):c.984G>A (p.Q328=) - GALC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1006G>A r.(?) p.(Val336Met) - likely benign g.88431876C>T g.87965532C>T GALC(NM_000153.3):c.1006G>A (p.V336M) - GALC_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1072C>T r.(?) p.(Leu358=) - benign g.88429817G>A g.87963473G>A GALC(NM_000153.3):c.1072C>T (p.L358=) - GALC_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1110C>G r.(?) p.(Tyr370Ter) - pathogenic g.88429779G>C - GALC(NM_000153.3):c.1110C>G (p.Y370*) - GALC_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 10i c.1162-4del r.spl? p.? - pathogenic g.88417106del g.87950762del NM_000153: c.1162-4T>- - GALC_000006 - PubMed: Karaca 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.1162-4del r.spl? p.? - benign g.88417106del g.87950762del GALC(NM_000153.3):c.1162-4del (p.?), GALC(NM_000153.3):c.1162-4delT - GALC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1162-4del r.spl? p.? - benign g.88417106del g.87950762del GALC(NM_000153.3):c.1162-4del (p.?), GALC(NM_000153.3):c.1162-4delT - GALC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1162-4del r.spl? p.? - benign g.88417106del g.87950762del GALC(NM_000153.3):c.1162-4del (p.?), GALC(NM_000153.3):c.1162-4delT - GALC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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