Unique variants in gene GALC

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

82 entries on 1 page. Showing entries 1 - 82.
Legend  

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.-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
-?/., ?/. 2 - c.-327G>T r.(?) p.(=) - likely benign, 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_AMC, VKGL-NL_Rotterdam
-?/. 2 - 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, VKGL-NL_AMC
-/. 1 - 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 - - - - - VKGL-NL_AMC
-?/. 1 - 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
-?/. 1 - 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
-?/. 2 - 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, VKGL-NL_Rotterdam
-/. 2 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - 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
-/. 3 - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - 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
?/. 1 - 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
-/. 2 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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 - - - - - VKGL-NL_AMC
?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
+?/. 1 4 c.196G>A r.(?) p.(Ala66Thr) ACMG likely pathogenic g.88454867C>T g.87988523C>T - - GALC_000057 - PubMed: Tumienė 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - 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 - - - - - VKGL-NL_AMC
+?/. 1 - 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
-?/. 2 - 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, VKGL-NL_Rotterdam
-/. 2 - 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 - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 2 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/., -/. 5 - c.330C>T r.(=), r.(?) p.(=), p.(Asp110=) - likely benign, benign g.88452945G>A g.87986601G>A GALC(NM_000153.3):c.330C>T (p.D110=) - GALC_000039 95 heterozygous; Clinindb (India), 1 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs11552556 Germline, CLASSIFICATION record - 95/2795 individuals, 1/2795 individuals - - - Mohammed Faruq, VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/., +/. 6 4 c.334A>G r.(?) p.(Thr112Ala) - VUS, pathogenic g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A) - GALC_000004 VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted, PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - rs147313927 CLASSIFICATION record, Germline - 7/2793 individuals - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen, Mohammed Faruq, Johan den Dunnen
-/. 1 - 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 - - - - - VKGL-NL_AMC
?/. 1 - 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
+?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-?/. 1 - 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
-?/. 2 - 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, VKGL-NL_Rotterdam
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - 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
-?/., -/., ./. 15 5 c.550C>T r.(?) p.(Arg184Cys) - likely benign, benign, VUS g.88450770G>A g.87984426G>A GALC(NM_000153.3):c.550C>T (p.R184C) - GALC_000001 160 heterozygous; Clinindb (India), 1 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs1805078 Germline, CLASSIFICATION record - 160/2795 individuals, 1/2795 individuals - - - Mohammed Faruq, VKGL-NL_Rotterdam, Gerard C.P. Schaafsma, VKGL-NL_AMC
+/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/. 2 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 9 c.850G>A r.(?) p.(Gly284Ser) ACMG likely pathogenic g.88434737C>T g.87968393C>T - - GALC_000056 - PubMed: Tumienė 2018 - - Germline - - - - - Johan den Dunnen
+?/. 1 - 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 - - - Mohammed Faruq
-/., ./. 3 9 c.913A>G r.(?) p.(Ile305Val) - benign, VUS g.88431969T>C g.87965625T>C GALC(NM_000153.3):c.913A>G (p.I305V) - GALC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, Gerard C.P. Schaafsma
?/. 1 - 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 - - - - - VKGL-NL_AMC
?/. 1 - 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
?/. 3 - c.956A>G r.(?) p.(Tyr319Cys) - VUS g.88431926T>C g.87965582T>C GALC(NM_000153.3):c.956A>G (p.Y319C) - GALC_000029 conflicting interpretations of pathogenicity; 43 heterozygous; Clinindb (India), 2 more items Faruq 2020, submtted - rs183105855 Germline, CLASSIFICATION record - 43/2795 individuals, 1/2795 individuals - - - Mohammed Faruq, VKGL-NL_Rotterdam
-/. 3 - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - 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
-/. 1 - 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
-?/., -/., +/. 6 10i c.1162-4del r.spl? p.? - likely benign, benign, pathogenic g.88417106del g.87950762del GALC(NM_000153.3):c.1162-4del (p.?), GALC(NM_000153.3):c.1162-4delT, NM_000153: c.1162-4T>- - GALC_000006, GALC_000027 VKGL data sharing initiative Nederland PubMed: Karaca 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Groningen, VKGL-NL_AMC, Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 - c.1199del r.(?) p.(Pro400LeufsTer57) - pathogenic g.88417056del g.87950712del GALC(NM_000153.3):c.1199delC (p.P400Lfs*57) - GALC_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1208A>T r.(?) p.(Asn403Ile) - pathogenic g.88417046T>A g.87950702T>A GALC(NM_000153.3):c.1208A>T (p.N403I) - GALC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1302C>T r.(?) p.(Ser434=) - benign g.88416225G>A g.87949881G>A GALC(NM_000153.3):c.1302C>T (p.S434=) - GALC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.1350C>T r.(?) p.(Ser450=) - benign g.88414211G>A g.87947867G>A GALC(NM_000153.3):c.1350C>T (p.S450=) - GALC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_AMC
./. 1 13 c.1403C>G r.(?) p.(Thr468Ser) - VUS g.88414158G>C g.87947814G>C - - GALC_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. 2 - c.1586C>T r.(?) p.(Thr529Met) - pathogenic g.88411981G>A g.87945637G>A GALC(NM_000153.3):c.1586C>T (p.T529M) - GALC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+/. 1 - c.1591C>T r.(?) p.(Arg531Cys) - pathogenic g.88411976G>A g.87945632G>A GALC(NM_000153.3):c.1591C>T (p.R531C) - GALC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., +/. 2 - c.1592G>A r.(?) p.(Arg531His) - likely pathogenic, pathogenic g.88411975C>T g.87945631C>T GALC(NM_000153.3):c.1592G>A (p.R531H) - GALC_000087 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs200378205 Germline, CLASSIFICATION record - 1/2795 individuals - - - Mohammed Faruq, VKGL-NL_AMC
-/. 2 - c.1620= r.(=) p.(Thr540=) - benign g.88411947T>C g.87945603T>C GALC(NM_000153.3):c.1620A>G (p.T540=) - GALC_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.1629C>T r.(?) p.(Ala543=) - likely benign g.88411938G>A g.87945594G>A GALC(NM_000153.3):c.1629C>T (p.A543=) - GALC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.1630G>A r.(?) p.(Asp544Asn) - pathogenic g.88411937C>T g.87945593C>T GALC(NM_000153.3):c.1630G>A (p.D544N) - GALC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-?/. 1 - c.1632T>C r.(?) p.(Asp544=) - likely benign g.88411935A>G g.87945591A>G GALC(NM_000153.3):c.1632T>C (p.D544=) - GALC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1670+19A>T r.(=) p.(=) - likely benign g.88411878T>A g.87945534T>A GALC(NM_000153.3):c.1670+19A>T - GALC_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.1671-15C>T r.(=) p.(=) - benign g.88407917G>A g.87941573G>A GALC(NM_000153.3):c.1671-15C>T - GALC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 3 - c.1685T>C r.(?) p.(Ile562Thr) - benign g.88407888A>G g.87941544A>G GALC(NM_000153.3):c.1685T>C (p.I562T) - GALC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 2 - c.1698A>T r.(?) p.(Val566=) - benign g.88407875T>A g.87941531T>A GALC(NM_000153.3):c.1698A>T (p.V566=) - GALC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
+/. 2 - c.1700A>C r.(?) p.(Tyr567Ser) - pathogenic g.88407873T>G g.87941529T>G GALC(NM_000153.3):c.1700A>C (p.Y567S) - GALC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
-?/. 1 - c.1709C>G r.(?) p.(Thr570Ser) - likely benign g.88407864G>C g.87941520G>C GALC(NM_000153.3):c.1709C>G (p.T570S) - GALC_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1731C>T r.(?) p.(Phe577=) - likely benign g.88407842G>A g.87941498G>A GALC(NM_000153.3):c.1731C>T (p.F577=) - GALC_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1788C>T r.(?) p.(Phe596=) - benign g.88407785G>A g.87941441G>A GALC(NM_000153.3):c.1788C>T (p.F596=) - GALC_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.1814dup r.(?) p.(Tyr605Ter) - pathogenic g.88407759dup g.87941415dup GALC(NM_000153.3):c.1814dupA (p.Y605*) - GALC_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 2 - c.1834+5C>G r.spl? p.? - benign g.88407734G>C g.87941390G>C GALC(NM_000153.3):c.1834+5C>G - GALC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.1834+21_1834+22dup r.(=) p.(=) - benign g.88407728_88407729dup g.87941384_87941385dup GALC(NM_000153.3):c.1834+21_1834+22dupTT - GALC_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1834+22dup r.(=) p.(=) - benign g.88407729dup g.87941385dup GALC(NM_000153.3):c.1834+22dupT, GALC(NM_000153.3):c.1834+9_1834+10insT - GALC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 2 - c.1921A>G r.(?) p.(Thr641Ala) - benign g.88401213T>C g.87934869T>C GALC(NM_000153.3):c.1921A>G (p.T641A) - GALC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 17 c.1987T>G r.(?) p.(Trp663Gly) - pathogenic g.88401147A>C g.87934803A>C NM_001201401: c.T1918G; p.W640G - GALC_000005 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1997T>C r.(?) p.(Ile666Thr) - likely pathogenic g.88401137A>G g.87934793A>G GALC(NM_000153.3):c.1997T>C (p.I666T) - GALC_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2006_2009del r.(?) p.(His669ProfsTer19) - pathogenic g.88401129_88401132del g.87934785_87934788del GALC(NM_000153.3):c.2006_2009delACTC (p.H669Pfs*19) - GALC_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*723G>A r.(=) p.(=) - benign g.88400353C>T g.87934009C>T GALC(NM_000153.3):c.*723G>A - GALC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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