ClinVar Miner

List of variants in gene GALC reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.391T>C (p.Trp131Arg) rs746507078 0.00002
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.1252-2A>G rs1166863449 0.00001
NM_000153.4(GALC):c.1913G>T (p.Gly638Val) rs1162671660 0.00001
NM_000153.4(GALC):c.582+1G>A rs750881596 0.00001
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938 0.00001
NM_000153.4(GALC):c.621+1G>A rs759511006 0.00001
NM_000153.4(GALC):c.622-1G>T rs1886499951 0.00001
NC_000014.9:g.(?_87934712)_(87949951_?)del
NC_000014.9:g.(?_87949835)_(87949941_?)del
NC_000014.9:g.(?_87963374)_(87963521_?)dup
NC_000014.9:g.(?_87965495)_(87968500_?)dup
NM_000153.4(GALC):c.1033+1G>A rs2139996044
NM_000153.4(GALC):c.1034-1G>C
NM_000153.4(GALC):c.1034-2A>G
NM_000153.4(GALC):c.1151T>A (p.Ile384Asn)
NM_000153.4(GALC):c.1161+1del rs1555381417
NM_000153.4(GALC):c.1161+2T>A
NM_000153.4(GALC):c.1162-1G>A
NM_000153.4(GALC):c.1251+1del
NM_000153.4(GALC):c.1276T>G (p.Trp426Gly) rs2139961618
NM_000153.4(GALC):c.1338+1G>C rs1555379669
NM_000153.4(GALC):c.1338+1G>T rs1555379669
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile) rs750431739
NM_000153.4(GALC):c.1469A>G (p.Tyr490Cys)
NM_000153.4(GALC):c.1592G>T (p.Arg531Leu) rs200378205
NM_000153.4(GALC):c.1670+1G>A rs749597090
NM_000153.4(GALC):c.1670+1G>T rs749597090
NM_000153.4(GALC):c.1736C>A (p.Ala579Glu) rs1423625765
NM_000153.4(GALC):c.1757G>A (p.Gly586Asp) rs2139941444
NM_000153.4(GALC):c.1829A>C (p.Asp610Ala) rs754732860
NM_000153.4(GALC):c.1859G>C (p.Gly620Ala)
NM_000153.4(GALC):c.1898C>G (p.Thr633Arg) rs766762599
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_000153.4(GALC):c.199A>C (p.Thr67Pro) rs2139759522
NM_000153.4(GALC):c.2002A>G (p.Thr668Ala) rs1884498480
NM_000153.4(GALC):c.200C>A (p.Thr67Asn)
NM_000153.4(GALC):c.200C>T (p.Thr67Ile) rs1478697086
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.2042T>C (p.Val681Ala)
NM_000153.4(GALC):c.2042T>G (p.Val681Gly)
NM_000153.4(GALC):c.236G>C (p.Arg79Pro)
NM_000153.4(GALC):c.264+1G>A rs1458925593
NM_000153.4(GALC):c.264+2T>C
NM_000153.4(GALC):c.264+3A>C rs1567014543
NM_000153.4(GALC):c.316G>A (p.Gly106Arg)
NM_000153.4(GALC):c.329-1G>A rs1365632054
NM_000153.4(GALC):c.329-2A>G rs2139755114
NM_000153.4(GALC):c.349A>C (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.388G>C (p.Glu130Gln)
NM_000153.4(GALC):c.389A>G (p.Glu130Gly)
NM_000153.4(GALC):c.443-1G>C rs1886890531
NM_000153.4(GALC):c.443-2A>G rs1595236714
NM_000153.4(GALC):c.582+1G>C
NM_000153.4(GALC):c.582+2T>C
NM_000153.4(GALC):c.593A>C (p.Glu198Ala)
NM_000153.4(GALC):c.752+1G>A rs2140016050
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
NM_000153.4(GALC):c.764C>A (p.Pro255His) rs1886148366
NM_000153.4(GALC):c.822A>C (p.Glu274Asp)
NM_000153.4(GALC):c.851G>A (p.Gly284Asp)
NM_000153.4(GALC):c.856G>C (p.Gly286Arg)
NM_000153.4(GALC):c.868C>A (p.Arg290Ser)
NM_000153.4(GALC):c.940T>C (p.Tyr314His) rs2139996434
NM_000153.4(GALC):c.953C>T (p.Pro318Leu)

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