Related gene-specific medical variations for Gene (Select 101929384) - 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: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2479953	NM_001122848.3(SLC6A12):c.263C>T (p.Pro88Leu)	SLC6A12, SLC6A12-AS1 (P88L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2281348	NM_001122848.3(SLC6A12):c.236T>G (p.Phe79Cys)	SLC6A12, SLC6A12-AS1 (F79C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 781056	NM_001122848.3(SLC6A12):c.294A>G (p.Gln98=)	SLC6A12, SLC6A12-AS1	Single nucleotide variant (synonymous 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