Related gene-specific medical variations for Gene (Select 390595) - ClinVar - NCBI

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

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Links from Gene

Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341500	NM_001163692.2(UBAP1L):c.910-7G>A	UBAP1L	Single nucleotide variant (intron variant)	Retinal dystrophy	GPathogenic
Select item 3341499	NM_001163692.2(UBAP1L):c.710del (p.Pro237fs)	UBAP1L (P237fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3341498	NM_001163692.2(UBAP1L):c.634_644del (p.Ser212fs)	UBAP1L (S212fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3341497	NM_001163692.2(UBAP1L):c.121-2A>C	UBAP1L	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File