Related gene-specific medical variations for Gene (Select 93183) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247752	NC_000001.10:g.(?_160000258)_(160001799_?)del	PIGM	Deletion	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2582401	NM_145167.3(PIGM):c.538A>T (p.Lys180Ter)	PIGM (K180*)	Single nucleotide variant (nonsense)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely pathogenic
Select item 394295	GRCh37/hg19 1q23.2(chr1:159997893-160000549)x1	PIGM	Copy number loss	See cases	GUncertain significance

Format

Sort by

Choose Destination