C4748304[trait identifier] AND "Baylor Genetics"[submitter] - 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 1028934	NM_001013838.3(CARMIL2):c.745G>A (p.Glu249Lys)	CARMIL2 (E249K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 2671920	NM_001013838.3(CARMIL2):c.1681C>T (p.Arg561Trp)	CARMIL2 (R525W +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 2439755	NM_001013838.3(CARMIL2):c.3444TGG[1] (p.Gly1150del)	CARMIL2 (G1114del +1 more)	Microsatellite (inframe_deletion)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 1028933	NM_001013838.3(CARMIL2):c.3827G>A (p.Arg1276Lys)	CARMIL2 (R1240K +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File