Variants in gene GALK1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)	rs376790302	0.00010
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)	rs375690568	0.00007
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)	rs371517491	0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)	rs754967473	0.00004
NM_000154.2(GALK1):c.94G>A (p.Val32Met)	rs104894576	0.00003
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)	rs771067891
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)	rs2061563475
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)	rs2143605190
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)	rs2061599016
NM_000154.2(GALK1):c.364del (p.Leu122fs)	rs2061596711
NM_000154.2(GALK1):c.410del (p.Gly137fs)	rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs)	rs767329054
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)	rs767799179
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
NM_000154.2(GALK1):c.793+2T>G
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)	rs770087254

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.