Unique variants in gene GALC

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

80 entries on 1 page. Showing entries 1 - 80.
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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.-327G>C likely benign r.(?) p.(=) g.88459835C>G - GALC(NM_001201402.1):c.9G>C (p.G3=) - GALC_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 2 - c.-327G>T likely benign, VUS r.(?) p.(=) g.88459835C>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 likely benign r.(?) p.(=) g.88459826A>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 benign r.(?) p.(=) g.88459795C>T - GALC(NM_001201402.1):c.49G>A (p.A17T) - GALC_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-285G>A likely benign r.(?) p.(=) g.88459793C>T - GALC(NM_001201402.1):c.51G>A (p.A17=) - GALC_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-275A>G likely benign r.(?) p.(=) g.88459783T>C - GALC(NM_001201402.1):c.61A>G (p.(Ile21Val)) - GALC_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.41C>G likely benign r.(?) p.(Ala14Gly) g.88459468G>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 benign r.(?) p.(=) g.88459467C>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 likely benign r.(?) p.(=) g.88459449G>A - GALC(NM_000153.3):c.60C>T (p.A20=) - GALC_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.61G>C benign r.(?) p.(Ala21Pro) g.88459448C>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 likely benign r.(?) p.(Gly22Asp) g.88459444C>T - GALC(NM_000153.3):c.65G>A (p.G22D) - GALC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.65G>C VUS r.(?) p.(Gly22Ala) g.88459444C>G - GALC(NM_000153.3):c.65G>C (p.G22A) - GALC_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.75C>A benign r.(?) p.(=) g.88459434G>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 benign r.(?) p.(=) g.88459413C>A - GALC(NM_000153.3):c.96G>T (p.L32=) - GALC_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.154G>A VUS r.(?) p.(Gly52Ser) g.88459355C>T - GALC(NM_000153.3):c.154G>A (p.G52S) - GALC_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.158G>C VUS r.(?) p.(Arg53Pro) g.88459351C>G - GALC(NM_000153.3):c.158G>C (p.R53P) - GALC_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.195+10A>G benign r.(=) p.(=) g.88459304T>C - GALC(NM_000153.3):c.195+10A>G - GALC_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.195+19G>A likely benign r.(=) p.(=) g.88459295C>T - GALC(NM_000153.3):c.195+19G>A - GALC_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.196-9T>C likely benign r.(=) p.(=) g.88454876A>G - GALC(NM_000153.3):c.196-9T>C - GALC_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.196-3dup likely benign r.spl? p.? g.88454879dup - GALC(NM_000153.3):c.196-3dupT - GALC_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 4 c.196G>A likely pathogenic, ACMG: 4 r.(?) p.(Ala66Thr) g.88454867C>T - - - GALC_000057 - PubMed: Tumienė 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.264+1G>A pathogenic r.spl? p.? g.88454798C>T - GALC(NM_000153.3):c.264+1G>A - GALC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.264+17T>G benign r.(=) p.(=) g.88454782A>C - GALC(NM_000153.3):c.264+17T>G - GALC_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.328+1G>T likely pathogenic r.spl? p.? g.88454487C>A - GALC(NM_000153.3):c.328+1G>T - GALC_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.328+6A>G likely benign r.(=) p.(=) g.88454482T>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 benign r.(=) p.(=) g.88454469A>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 likely benign r.(=) p.(=) g.88452957_88452959del - GALC(NM_000153.3):c.329-10_329-8delCTC - GALC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 3 - c.330C>T benign r.(?) p.(=) g.88452945G>A - GALC(NM_000153.3):c.330C>T (p.D110=) - GALC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/., +/. 5 4 c.334A>G VUS r.(?) p.(Thr112Ala) g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A) - GALC_000004 VKGL data sharing initiative Nederland PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen, Johan den Dunnen
-/. 1 - c.397T>C benign r.(?) p.(=) g.88452878A>G - GALC(NM_000153.3):c.397T>C (p.L133=) - GALC_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.409G>T VUS r.(?) p.(Ala137Ser) g.88452866C>A - GALC(NM_000153.3):c.409G>T (p.A137S) - GALC_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.411_413del likely pathogenic r.(?) p.(Lys139del) g.88452862_88452864del - GALC(NM_000153.3):c.411_413delTAA (p.K139del) - GALC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.430del pathogenic r.(?) p.(Ile144Leufs*27) g.88452845del - GALC(NM_000153.3):c.430delA (p.I144Lfs*27) - GALC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.443-11T>G likely benign r.(=) p.(=) g.88450888A>C - GALC(NM_000153.3):c.443-11T>G - GALC_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.461C>A likely benign r.(?) p.(Pro154His) g.88450859G>T - GALC(NM_000153.3):c.461C>A (p.P154H) - GALC_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.525C>T likely benign r.(?) p.(=) g.88450795G>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 likely benign r.(?) p.(Thr177Asn) g.88450790G>T - GALC(NM_000153.3):c.530C>A (p.T177N) - GALC_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.542G>A likely pathogenic r.(?) p.(Gly181Asp) g.88450778C>T - GALC(NM_000153.3):c.542G>A (p.G181D) - GALC_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., ./. 13 5 c.550C>T benign r.(?) p.(Arg184Cys) g.88450770G>A g.87984426G>A GALC(NM_000153.3):c.550C>T (p.R184C) - GALC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Gerard C.P. Schaafsma, VKGL-NL_AMC
+/. 1 - c.621+1G>A pathogenic r.spl? p.? g.88448548C>T - GALC(NM_000153.3):c.621+1G>A - GALC_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.621+15A>G likely benign r.(=) p.(=) g.88448534T>C - GALC(NM_000153.3):c.621+15A>G - GALC_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.621+24T>C benign r.(=) p.(=) g.88448525A>G - GALC(NM_000153.3):c.621+24T>C - GALC_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.742G>A benign r.(?) p.(Asp248Asn) g.88442712C>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 likely pathogenic, ACMG: 4 r.(?) p.(Gly284Ser) g.88434737C>T - - - GALC_000056 - PubMed: Tumienė 2018 - - Germline - - - - - Johan den Dunnen
-/., ./. 3 9 c.913A>G benign r.(?) p.(Ile305Val) 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, Gerard C.P. Schaafsma
?/. 1 - c.916G>A VUS r.(?) p.(Ala306Thr) g.88431966C>T - GALC(NM_000153.3):c.916G>A (p.A306T) - GALC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.927A>C VUS r.(?) p.(Leu309Phe) g.88431955T>G - GALC(NM_000153.3):c.927A>C (p.L309F) - GALC_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.956A>G VUS r.(?) p.(Tyr319Cys) g.88431926T>C - GALC(NM_000153.3):c.956A>G (p.Y319C) - GALC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.984G>A benign r.(?) p.(=) g.88431898C>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 likely benign r.(?) p.(Val336Met) g.88431876C>T - GALC(NM_000153.3):c.1006G>A (p.V336M) - GALC_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1072C>T benign r.(?) p.(=) g.88429817G>A - GALC(NM_000153.3):c.1072C>T (p.L358=) - GALC_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/., +/. 6 10i c.1162-4del likely benign, benign r.spl? p.? g.88417106del, g.88417096del - 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 pathogenic r.(?) p.(Pro400Leufs*57) g.88417056del - GALC(NM_000153.3):c.1199delC (p.P400Lfs*57) - GALC_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1208A>T pathogenic r.(?) p.(Asn403Ile) g.88417046T>A - GALC(NM_000153.3):c.1208A>T (p.N403I) - GALC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1302C>T benign r.(?) p.(=) g.88416225G>A - GALC(NM_000153.3):c.1302C>T (p.S434=) - GALC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1350C>T benign r.(?) p.(=) g.88414211G>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) g.88414158G>C g.87947814G>C - - GALC_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. 2 - c.1586C>T pathogenic r.(?) p.(Thr529Met) g.88411981G>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 pathogenic r.(?) p.(Arg531Cys) g.88411976G>A - GALC(NM_000153.3):c.1591C>T (p.R531C) - GALC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1620A>G benign r.(?) p.(=) g.88411947T>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 likely benign r.(?) p.(=) g.88411938G>A - GALC(NM_000153.3):c.1629C>T (p.A543=) - GALC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.1630G>A pathogenic r.(?) p.(Asp544Asn) g.88411937C>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 likely benign r.(?) p.(=) g.88411935A>G - GALC(NM_000153.3):c.1632T>C (p.D544=) - GALC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1670+19A>T likely benign r.(=) p.(=) g.88411878T>A - GALC(NM_000153.3):c.1670+19A>T - GALC_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1671-15C>T benign r.(=) p.(=) g.88407917G>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 benign r.(?) p.(Ile562Thr) g.88407888A>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 benign r.(?) p.(=) g.88407875T>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 pathogenic r.(?) p.(Tyr567Ser) g.88407873T>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 likely benign r.(?) p.(Thr570Ser) g.88407864G>C - GALC(NM_000153.3):c.1709C>G (p.T570S) - GALC_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1731C>T likely benign r.(?) p.(=) g.88407842G>A - GALC(NM_000153.3):c.1731C>T (p.F577=) - GALC_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1788C>T benign r.(?) p.(=) g.88407785G>A - GALC(NM_000153.3):c.1788C>T (p.F596=) - GALC_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.1814dup pathogenic r.(?) p.(Tyr605*) g.88407759dup - 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 benign r.spl? p.? g.88407734G>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 benign r.(=) p.(=) g.88407728_88407729dup - GALC(NM_000153.3):c.1834+21_1834+22dupTT - GALC_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1834+22dup benign r.(=) p.(=) g.88407729dup - 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 benign r.(?) p.(Thr641Ala) g.88401213T>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) g.88401147A>C - NM_001201401: c.T1918G; p.W640G - GALC_000005 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1997T>C likely pathogenic r.(?) p.(Ile666Thr) g.88401137A>G - GALC(NM_000153.3):c.1997T>C (p.I666T) - GALC_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2006_2009del pathogenic r.(?) p.(His669Profs*19) g.88401129_88401132del - GALC(NM_000153.3):c.2006_2009delACTC (p.H669Pfs*19) - GALC_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*723G>A benign r.(=) p.(=) g.88400353C>T - GALC(NM_000153.3):c.*723G>A - GALC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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