"Blueprint Genetics"[submitter] AND "LRBA"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287379	NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)	LRBA (R2862C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 540394	NM_001364905.1(LRBA):c.8531G>A (p.Trp2844Ter)	LRBA (W2855* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 540401	NM_001364905.1(LRBA):c.8461G>A (p.Asp2821Asn)	LRBA (D2832N +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GUncertain significance
Select item 636668	NM_001364905.1(LRBA):c.8350C>T (p.Leu2784Phe)	LRBA (L2784F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497404	NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile)	LRBA (T2686I +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 636557	NM_001364905.1(LRBA):c.7795A>G (p.Ile2599Val)	LRBA (I2599V +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 636333	NM_001364905.1(LRBA):c.6667+5C>G	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 636488	NM_001364905.1(LRBA):c.5786G>A (p.Arg1929Gln)	LRBA (R1929Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 435784	NM_001364905.1(LRBA):c.4919T>C (p.Val1640Ala)	LRBA (V1640A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 636581	NM_001364905.1(LRBA):c.3373C>G (p.Leu1125Val)	LRBA (L1125V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636571	NM_001364905.1(LRBA):c.2258+2T>G	LRBA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 636373	NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His)	LRBA (Y591H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287150	NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)	LRBA (M467V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 636898	NM_001364905.1(LRBA):c.1161+4G>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 198546	NM_001364905.1(LRBA):c.787C>G (p.Leu263Val)	LRBA (L263V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197284	NM_001364905.1(LRBA):c.549+6A>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance