"Invitae"[submitter] AND "DARS1-AS1"[gene] - 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: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 650197	NC_000002.12:g.(?_135950413)_(136118080_?)del	CXCR4, DARS1 +9 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2979616	NM_001349.4(DARS1):c.66+18C>T	DARS1, DARS1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1912555	NM_001349.4(DARS1):c.39G>A (p.Lys13=)	DARS1, DARS1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 808803	NM_001349.4(DARS1):c.10GCCAGC[3] (p.4AS[3])	DARS1, DARS1-AS1 +1 more	Microsatellite (non-coding transcript variant +2 more)	not provided	GConflicting classifications of pathogenicity

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File