"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LRBA"[gene] - ClinVar

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Items: 35

	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 968943	NM_001364905.1(LRBA):c.8527C>T (p.Arg2843Trp)	LRBA (R2843W +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	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 548025	NM_001364905.1(LRBA):c.7687C>T (p.Leu2563Phe)	LRBA (L2574F +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 439869	NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)	LRBA (T2533P +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3379560	NM_001364905.1(LRBA):c.7546A>T (p.Thr2516Ser)	LRBA (T2516S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683649	NM_001364905.1(LRBA):c.7389dup (p.Gly2464fs)	LRBA (G2464fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 962034	NM_001364905.1(LRBA):c.7339A>G (p.Ile2447Val)	LRBA (I2458V +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GUncertain significance
Select item 1398543	NM_001364905.1(LRBA):c.7283G>C (p.Arg2428Pro)	LRBA (R2428P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 567653	NM_001364905.1(LRBA):c.6662T>C (p.Ile2221Thr)	LRBA (I2221T +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GConflicting classifications of pathogenicity
Select item 571369	NM_001364905.1(LRBA):c.6214C>T (p.Pro2072Ser)	LRBA (P2083S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1959795	NM_001364905.1(LRBA):c.6199G>A (p.Val2067Ile)	LRBA (V2067I +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 951846	NM_001364905.1(LRBA):c.6053A>G (p.Asp2018Gly)	LRBA (D2018G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 580329	NM_001364905.1(LRBA):c.6049A>C (p.Thr2017Pro)	LRBA (T2017P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2682871	NM_001364905.1(LRBA):c.5456C>T (p.Ala1819Val)	LRBA (A1819V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 473179	NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala)	LRBA (V1695A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 932580	NM_001364905.1(LRBA):c.4907C>G (p.Ala1636Gly)	LRBA (A1636G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3291221	NM_001364905.1(LRBA):c.4760C>T (p.Thr1587Ile)	LRBA (T1587I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3379561	NM_001364905.1(LRBA):c.4463G>A (p.Ser1488Asn)	LRBA (S1488N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 834208	NM_001364905.1(LRBA):c.3942G>A (p.Met1314Ile)	LRBA (M1314I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163445	NM_001364905.1(LRBA):c.3856G>A (p.Gly1286Arg)	LRBA (G1286R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853240	NM_001364905.1(LRBA):c.3502G>C (p.Asp1168His)	LRBA (D1168H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 218543	NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala)	LRBA (T1167A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 843751	NM_001364905.1(LRBA):c.3394A>T (p.Asn1132Tyr)	LRBA (N1132Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1504463	NM_001364905.1(LRBA):c.3362A>G (p.Glu1121Gly)	LRBA (E1121G)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 1163446	NM_001364905.1(LRBA):c.3056T>A (p.Met1019Lys)	LRBA (M1019K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163447	NM_001364905.1(LRBA):c.2338A>G (p.Thr780Ala)	LRBA (T780A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 838605	NM_001364905.1(LRBA):c.2112G>A (p.Met704Ile)	LRBA (M704I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GUncertain significance
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 473167	NM_001364905.1(LRBA):c.1541C>T (p.Ala514Val)	LRBA (A514V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 645712	NM_001364905.1(LRBA):c.1259C>T (p.Thr420Met)	LRBA (T420M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 840978	NM_001364905.1(LRBA):c.1216C>T (p.Leu406Phe)	LRBA (L406F)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
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 3379562	NM_001364905.1(LRBA):c.463A>G (p.Met155Val)	LRBA (M155V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 35