"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC130065345"[gen - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504213	NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)	LOC130065345, PANK2 (S169fs +1 more)	Deletion (5 prime UTR variant +3 more)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration +2 more	GPathogenic/Likely pathogenic
Select item 1668094	NM_001386393.1(PANK2):c.291G>A (p.Lys97=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration +1 more	GLikely benign