Related gene-specific medical variations for Gene (Select 8943) - 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: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1706797	NM_001261826.3(AP3D1):c.-194G>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1706726	NM_001261826.3(AP3D1):c.-201C>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1316661	NM_001261826.3(AP3D1):c.-177C>G	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1230683	NM_001261826.3(AP3D1):c.-182C>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 725649	NM_032482.3(DOT1L):c.81+9C>G	AP3D1, DOT1L +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File