"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CARMIL2"[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: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1063548	NM_001013838.3(CARMIL2):c.226G>A (p.Ala76Thr)	CARMIL2 (A76T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1613154	NM_001013838.3(CARMIL2):c.1509+14C>A	CARMIL2	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GBenign/Likely benign
Select item 1581961	NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu)	CARMIL2 (D482E +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1164990	NM_001013838.3(CARMIL2):c.3221+20T>C	CARMIL2	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GBenign/Likely benign
Select item 1539447	NM_001013838.3(CARMIL2):c.3894G>A (p.Ala1298=)	CARMIL2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GLikely benign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File