List of variants in gene GALC reported as likely pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000153.4(GALC):c.349A>G (p.Met117Val)	rs145580093	0.00057
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000153.4(GALC):c.1592G>A (p.Arg531His)	rs200378205	0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met)	rs200607029	0.00004
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)	rs374635469	0.00003
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)	rs780750448	0.00003
NM_000153.4(GALC):c.1934T>G (p.Leu645Arg)	rs780593419	0.00002
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)	rs375867319	0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	rs387906952	0.00001
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)	rs779864190	0.00001
NM_000153.4(GALC):c.1913G>T (p.Gly638Val)	rs1162671660	0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)	rs756690487	0.00001
NM_000153.4(GALC):c.461C>A (p.Pro154His)	rs758557526	0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)	rs761550284	0.00001
NM_000153.4(GALC):c.582+1G>A	rs750881596	0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	rs1436074042	0.00001
NM_000153.4(GALC):c.787G>A (p.Ala263Thr)	rs1308816724	0.00001
NM_000153.4(GALC):c.982C>T (p.Gln328Ter)	rs1337518083	0.00001
NM_000153.4(GALC):c.1021del (p.Val341fs)	rs1057517382
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter)	rs1555381559
NM_000153.4(GALC):c.1083dup (p.Gly362fs)	rs767236077
NM_000153.4(GALC):c.1450C>T (p.Gln484Ter)
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)	rs202135871
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)	rs794727116
NM_000153.4(GALC):c.1736C>A (p.Ala579Glu)	rs1423625765
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
NM_000153.4(GALC):c.1842G>A (p.Trp614Ter)	rs1884767890
NM_000153.4(GALC):c.1897dup (p.Thr633fs)	rs1555378538
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)	rs1884501856
NM_000153.4(GALC):c.2003C>T (p.Thr668Ile)
NM_000153.4(GALC):c.236G>A (p.Arg79His)
NM_000153.4(GALC):c.293dup (p.Leu98fs)	rs757799254
NM_000153.4(GALC):c.349A>C (p.Met117Leu)	rs145580093
NM_000153.4(GALC):c.560A>T (p.Asp187Val)	rs997021099
NM_000153.4(GALC):c.764C>G (p.Pro255Arg)	rs1886148366
NM_000153.4(GALC):c.832A>C (p.Thr278Pro)	rs886042645
NM_000153.4(GALC):c.862T>C (p.Trp288Arg)	rs398123177

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