ClinVar for MedGen (Select 766426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235014	NM_001364905.1(LRBA):c.4759_4762del (p.Thr1587fs)	LRBA (T1587fs)	Deletion (frameshift variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 3065039	NM_001364905.1(LRBA):c.2351A>T (p.Tyr784Phe)	LRBA (Y784F)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 3064747	NM_001364905.1(LRBA):c.1412GAG[1] (p.Gly472del)	LRBA (G472del)	Microsatellite (inframe_deletion)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 3064386	NM_001364905.1(LRBA):c.894+5A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 3023793	NM_001364905.1(LRBA):c.1602+19T>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3023615	NM_001364905.1(LRBA):c.2049C>T (p.Tyr683=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3021394	NM_001364905.1(LRBA):c.2285A>G (p.His762Arg)	LRBA (H762R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 3021136	NM_001364905.1(LRBA):c.8451G>T (p.Ala2817=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3019325	NM_001364905.1(LRBA):c.7042-20T>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3018368	NM_001364905.1(LRBA):c.6330+16G>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3017524	NM_001364905.1(LRBA):c.5214C>T (p.Ser1738=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3017000	NM_001364905.1(LRBA):c.1860G>A (p.Thr620=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3016634	NM_001364905.1(LRBA):c.8307T>C (p.Asp2769=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3014352	NM_001364905.1(LRBA):c.756A>G (p.Pro252=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3012087	NM_001364905.1(LRBA):c.2166-7C>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3010123	NM_001364905.1(LRBA):c.2961A>C (p.Thr987=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3008984	NM_001364905.1(LRBA):c.5922-20G>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3005970	NM_001364905.1(LRBA):c.2970T>C (p.Asn990=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3005482	NM_001364905.1(LRBA):c.3501T>C (p.Thr1167=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3005315	NM_001364905.1(LRBA):c.4794A>T (p.Ser1598=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3005263	NM_001364905.1(LRBA):c.4570-20C>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3002837	NM_001364905.1(LRBA):c.5645+14_5645+18del	LRBA	Microsatellite (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3002167	NM_001364905.1(LRBA):c.2909G>A (p.Gly970Glu)	LRBA (G970E)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 3001078	NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)	LRBA (R310*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to LRBA deficiency	GPathogenic/Likely pathogenic
Select item 2997743	NM_001364905.1(LRBA):c.111A>G (p.Pro37=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2996114	NM_001364905.1(LRBA):c.6448+15A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2995953	NM_001364905.1(LRBA):c.2736G>A (p.Trp912Ter)	LRBA (W912*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 2995684	NM_001364905.1(LRBA):c.2784C>T (p.His928=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2994036	NM_001364905.1(LRBA):c.6756C>G (p.Pro2252=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2993958	NM_001364905.1(LRBA):c.5085G>A (p.Val1695=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2992633	NM_001364905.1(LRBA):c.3345A>G (p.Val1115=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2987636	NM_001364905.1(LRBA):c.6551+20A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2987527	NM_001364905.1(LRBA):c.6516T>G (p.Val2172=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2987224	NM_001364905.1(LRBA):c.7194+17C>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2986850	NM_001364905.1(LRBA):c.3516A>G (p.Gln1172=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2984684	NM_001364905.1(LRBA):c.5755-19del	LRBA	Deletion (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2982657	NM_001364905.1(LRBA):c.8331C>T (p.Ser2777=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2982040	NM_001364905.1(LRBA):c.6864T>C (p.Phe2288=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2981387	NM_001364905.1(LRBA):c.2592T>G (p.Ser864=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2980994	NM_001364905.1(LRBA):c.690T>C (p.Gly230=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2980252	NM_001364905.1(LRBA):c.2445C>T (p.Asn815=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2979507	NM_001364905.1(LRBA):c.4203A>G (p.Glu1401=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2978394	NM_001364905.1(LRBA):c.4876G>A (p.Ala1626Thr)	LRBA (A1626T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2978162	NM_001364905.1(LRBA):c.5172-11C>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2975208	NM_001364905.1(LRBA):c.2004+15C>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2973379	NM_001364905.1(LRBA):c.4729+19T>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2973074	NM_001364905.1(LRBA):c.888A>G (p.Pro296=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2969733	NM_001364905.1(LRBA):c.5148C>G (p.Pro1716=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2967139	NM_001364905.1(LRBA):c.1602+17T>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2964594	NM_001364905.1(LRBA):c.7971G>A (p.Leu2657=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2964155	NM_001364905.1(LRBA):c.449-13C>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2962961	NM_001364905.1(LRBA):c.7042-4A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2956922	NM_001364905.1(LRBA):c.3030A>G (p.Gln1010=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2955895	NM_001364905.1(LRBA):c.6047-12T>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2955088	NM_001364905.1(LRBA):c.8469-13G>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2954569	NM_001364905.1(LRBA):c.767+11C>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2918636	NM_001364905.1(LRBA):c.3507T>G (p.Thr1169=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2917799	NM_001364905.1(LRBA):c.6449-6T>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2915991	NM_001364905.1(LRBA):c.2053C>T (p.Leu685=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2915221	NM_001364905.1(LRBA):c.1647T>C (p.Leu549=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2913944	NM_001364905.1(LRBA):c.5581-5T>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2911931	NM_001364905.1(LRBA):c.4569+11A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2907781	NM_001364905.1(LRBA):c.5305+9G>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2907502	NM_001364905.1(LRBA):c.6009A>G (p.Thr2003=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2904923	NM_001364905.1(LRBA):c.895-18T>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2903161	NM_001364905.1(LRBA):c.6331-7T>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2902917	NM_001364905.1(LRBA):c.5131C>T (p.Leu1711=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2900567	NM_001364905.1(LRBA):c.5518+2T>C	LRBA	Single nucleotide variant (splice donor variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 2898824	NM_001364905.1(LRBA):c.7140C>T (p.Val2380=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2898270	NM_001364905.1(LRBA):c.5796G>A (p.Glu1932=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2898269	NM_001364905.1(LRBA):c.5968C>A (p.Arg1990=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2896126	NM_001364905.1(LRBA):c.7362+18A>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2894293	NM_001364905.1(LRBA):c.3768G>A (p.Leu1256=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2889813	NM_001364905.1(LRBA):c.6667+18A>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2889665	NM_001364905.1(LRBA):c.6046+15C>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2889289	NM_001364905.1(LRBA):c.1077T>C (p.Gly359=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2883464	NM_001364905.1(LRBA):c.2259-17T>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2882376	NM_001364905.1(LRBA):c.5518+8G>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2882046	NM_001364905.1(LRBA):c.2259-14T>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2880520	NM_001364905.1(LRBA):c.6546A>G (p.Gln2182=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2876228	NM_001364905.1(LRBA):c.2367+17dup	LRBA	Duplication (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2875304	NM_001364905.1(LRBA):c.6551+1G>T	LRBA	Single nucleotide variant (splice donor variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 2873664	NM_001364905.1(LRBA):c.1608C>T (p.Ser536=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2872331	NM_001364905.1(LRBA):c.4569+18T>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2867902	NM_001364905.1(LRBA):c.2187A>T (p.Ala729=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2866997	NM_001364905.1(LRBA):c.3298T>C (p.Ser1100Pro)	LRBA (S1100P)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2864253	NM_001364905.1(LRBA):c.1993T>C (p.Leu665=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2863165	NM_001364905.1(LRBA):c.993A>G (p.Thr331=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2862836	NM_001364905.1(LRBA):c.6194-2A>G	LRBA	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 2862686	NM_001364905.1(LRBA):c.6021G>A (p.Ala2007=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2862528	NM_001364905.1(LRBA):c.5755-6T>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2861908	NM_001364905.1(LRBA):c.6459G>T (p.Met2153Ile)	LRBA (M2153I +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2856299	NM_001364905.1(LRBA):c.5921+12C>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2856276	NM_001364905.1(LRBA):c.6047-9T>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2855567	NM_001364905.1(LRBA):c.4955C>T (p.Pro1652Leu)	LRBA (P1652L)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2854293	NM_001364905.1(LRBA):c.3815A>G (p.His1272Arg)	LRBA (H1272R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2851786	NM_001364905.1(LRBA):c.5856A>G (p.Gln1952=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2849348	NM_001364905.1(LRBA):c.7447C>A (p.Gln2483Lys)	LRBA (Q2483K +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2843979	NM_001364905.1(LRBA):c.6330+17G>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2841946	NM_001364905.1(LRBA):c.6551+3A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance

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