"Baylor Genetics"[submitter] AND "LRBA"[gene] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582480	NM_001364905.1(LRBA):c.6994A>G (p.Ile2332Val)	LRBA (I2332V +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1034276	NM_006439.5(MAB21L2):c.7G>A (p.Ala3Thr)	LRBA, MAB21L2 (A3T)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GUncertain significance
Select item 1031079	NM_001364905.1(LRBA):c.6223C>T (p.Leu2075Phe)	LRBA (L2075F +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 657092	NM_001364905.1(LRBA):c.5899G>A (p.Ala1967Thr)	LRBA (A1967T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GUncertain significance
Select item 1033135	NM_001364905.1(LRBA):c.5754+15T>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GConflicting classifications of pathogenicity
Select item 647675	NM_001364905.1(LRBA):c.5744C>T (p.Ala1915Val)	LRBA (A1915V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 1031078	NM_001364905.1(LRBA):c.5470C>T (p.Arg1824Trp)	LRBA (R1824W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 935759	NM_001364905.1(LRBA):c.5401G>A (p.Glu1801Lys)	LRBA (E1801K)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1031077	NM_001364905.1(LRBA):c.4618A>C (p.Ile1540Leu)	LRBA (I1540L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 941205	NM_001364905.1(LRBA):c.4186C>G (p.Gln1396Glu)	LRBA (Q1396E)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 973589	NM_001364905.1(LRBA):c.4159-1G>T	LRBA	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely pathogenic
Select item 1031076	NM_001364905.1(LRBA):c.3826-13A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 658702	NM_001364905.1(LRBA):c.3263A>G (p.Glu1088Gly)	LRBA (E1088G)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1031075	NM_001364905.1(LRBA):c.2671T>C (p.Tyr891His)	LRBA (Y891H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 836351	NM_001364905.1(LRBA):c.2504G>A (p.Ser835Asn)	LRBA (S835N)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1033134	NM_001364905.1(LRBA):c.1937C>G (p.Pro646Arg)	LRBA (P646R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	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 624048	NM_001364905.1(LRBA):c.782A>G (p.Lys261Arg)	LRBA (K261R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 960632	NM_001364905.1(LRBA):c.637A>G (p.Ser213Gly)	LRBA (S213G)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2442233	NM_001364905.1(LRBA):c.345dup (p.Ala116fs)	LRBA (A116fs)	Duplication (frameshift variant)	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 625973	NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)	LRBA (I65T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21