C4014767[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975917	NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter)	GPIHBP1 (W141*)	Single nucleotide variant (nonsense +1 more)	Hyperlipoproteinemia, type 1D	GLikely pathogenic
Select item 144016	NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)	GPIHBP1 (G175R)	Single nucleotide variant (missense variant +1 more)	Hyperlipoproteinemia, type 1D +3 more	GConflicting classifications of pathogenicity