"GeneDx"[submitter] AND "LRBA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 1265200	NM_001364905.1(LRBA):c.8469-52_8469-48dup	LRBA	Duplication (intron variant)	not provided	GBenign
Select item 1257255	NM_001364905.1(LRBA):c.8468+182A>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272209	NM_001364905.1(LRBA):c.8468+132G>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 568471	NM_001364905.1(LRBA):c.8440C>T (p.Arg2814Trp)	LRBA (R2814W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 403047	NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu)	LRBA (S2809L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 403048	NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr)	LRBA (A2704T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 802091	NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)	LRBA (W2632R +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GConflicting classifications of pathogenicity
Select item 643414	NM_001364905.1(LRBA):c.7859T>G (p.Ile2620Ser)	LRBA (I2631S +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 1244620	NM_001364905.1(LRBA):c.7850-306G>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403049	NM_001364905.1(LRBA):c.7849+10A>G	LRBA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1260145	NM_001364905.1(LRBA):c.7694-292T>C	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246272	NM_001364905.1(LRBA):c.7693+215G>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182252	NM_001364905.1(LRBA):c.7693+25C>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280628	NM_001364905.1(LRBA):c.7630+31G>A	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1420829	NM_001364905.1(LRBA):c.7571C>G (p.Ala2524Gly)	LRBA (A2524G +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 816968	NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter)	LRBA (R2461* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1232004	NM_001364905.1(LRBA):c.7363-186G>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264210	NM_001364905.1(LRBA):c.7363-244G>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251388	NM_001364905.1(LRBA):c.7195-141T>C	LRBA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1226754	NM_001364905.1(LRBA):c.7194+308C>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278515	NM_001364905.1(LRBA):c.7194+251_7194+254dup	LRBA	Duplication (intron variant)	not provided	GBenign
Select item 1310469	NM_001364905.1(LRBA):c.7194+4A>G	LRBA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1269206	NM_001364905.1(LRBA):c.6922-40C>A	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1259021	NM_001364905.1(LRBA):c.6922-274G>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245606	NM_001364905.1(LRBA):c.6921+278C>G	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265528	NM_001364905.1(LRBA):c.6921+60C>G	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 649962	NM_001364905.1(LRBA):c.6921A>G (p.Ile2307Met)	LRBA (I2307M +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 473183	NM_001364905.1(LRBA):c.6781-3C>T	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290230	NM_001364905.1(LRBA):c.6668-241C>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262013	NM_001364905.1(LRBA):c.6667+257A>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303672	NM_001364905.1(LRBA):c.6664G>A (p.Ala2222Thr)	LRBA (A2222T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314758	NM_001364905.1(LRBA):c.6553C>T (p.Arg2185Cys)	LRBA (R2185C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1265206	NM_001364905.1(LRBA):c.6552-202C>G	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289516	NM_001364905.1(LRBA):c.6551+130_6551+131del	LRBA	Deletion (intron variant)	not provided	GBenign
Select item 1288951	NM_001364905.1(LRBA):c.6551+84A>G	LRBA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1309362	NM_001364905.1(LRBA):c.6512G>T (p.Arg2171Leu)	LRBA (R2171L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373388	NM_001364905.1(LRBA):c.6443A>G (p.Asn2148Ser)	LRBA (N2159S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1287363	NM_001364905.1(LRBA):c.6331-159A>G	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252326	NC_000004.12:g.150582105G>C	LRBA, MAB21L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3368140	NM_001364905.1(LRBA):c.6330+4697G>C	LRBA, MAB21L2 (R108G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504384	NM_006439.5(MAB21L2):c.490_491insCGCTCATCAGGG (p.Arg163_Glu164insAlaLeuIleArg)	LRBA, MAB21L2	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 504470	NM_006439.5(MAB21L2):c.927dup (p.Cys310fs)	LRBA, MAB21L2 (C310fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 450889	NM_006439.5(MAB21L2):c.977T>C (p.Leu326Pro)	LRBA, MAB21L2 (L326P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1235505	NM_006439.5(MAB21L2):c.*83G>A	LRBA, MAB21L2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1248606	NM_006439.5(MAB21L2):c.*114T>C	LRBA, MAB21L2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 197442	NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn)	LRBA (D2119N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3370777	NM_001364905.1(LRBA):c.6233C>T (p.Pro2078Leu)	LRBA (P2078L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243948	NM_001364905.1(LRBA):c.6193+150A>C	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
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 57896	GRCh38/hg38 4q31.3(chr4:150703713-151282758)x3	LOC108281188, LOC121056744 +13 more	Copy number gain	See cases	GUncertain significance
Select item 1231266	NM_001364905.1(LRBA):c.5646-71G>A	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1229301	NM_001364905.1(LRBA):c.5645+167T>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403050	NM_001364905.1(LRBA):c.5550T>C (p.Val1850=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1289549	NM_001364905.1(LRBA):c.5518+250del	LRBA	Deletion (intron variant)	not provided	GBenign
Select item 1257125	NM_001364905.1(LRBA):c.5518+249_5518+250del	LRBA	Deletion (intron variant)	not provided	GBenign
Select item 1223253	NM_001364905.1(LRBA):c.5518+203C>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302519	NM_001364905.1(LRBA):c.5434C>T (p.Arg1812Cys)	LRBA (R1812C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 450665	NM_001364905.1(LRBA):c.5424_5434del (p.Ala1808_Pro1809insTer)	LRBA	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1270577	NM_001364905.1(LRBA):c.4730-299_4730-298del	LRBA	Deletion (intron variant)	not provided	GBenign
Select item 1263049	NM_001364905.1(LRBA):c.4730-301_4730-300insA	LRBA	Insertion (intron variant)	not provided	GBenign
Select item 1286907	NM_001364905.1(LRBA):c.4730-302_4730-301insA	LRBA	Insertion (intron variant)	not provided	GBenign
Select item 1240605	NM_001364905.1(LRBA):c.4730-301C>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232428	NM_001364905.1(LRBA):c.4730-303A>C	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365473	NM_001364905.1(LRBA):c.4728T>C (p.Ser1576=)	LRBA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 963268	NM_001364905.1(LRBA):c.4723C>T (p.Leu1575Phe)	LRBA (L1575F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196133	NM_001364905.1(LRBA):c.4569+9C>T	LRBA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1309363	NM_001364905.1(LRBA):c.4340-5T>C	LRBA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1283521	NM_001364905.1(LRBA):c.4339+255del	LRBA	Deletion (intron variant)	not provided	GBenign
Select item 1225543	NM_001364905.1(LRBA):c.4339+253_4339+255del	LRBA	Deletion (intron variant)	not provided	GBenign
Select item 1314757	NM_001364905.1(LRBA):c.4339+4A>C	LRBA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1310211	NM_001364905.1(LRBA):c.4300A>T (p.Met1434Leu)	LRBA (M1434L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3370967	NM_001364905.1(LRBA):c.3999G>A (p.Trp1333Ter)	LRBA (W1333*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 390618	NM_001364905.1(LRBA):c.3859A>G (p.Ile1287Val)	LRBA (I1287V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GBenign/Likely benign
Select item 1006852	NM_001364905.1(LRBA):c.3829T>C (p.Ser1277Pro)	LRBA (S1277P)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 540379	NM_001364905.1(LRBA):c.3743A>G (p.Asn1248Ser)	LRBA (N1248S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1525073	NM_001364905.1(LRBA):c.3742A>G (p.Asn1248Asp)	LRBA (N1248D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2663263	NM_001364905.1(LRBA):c.3583A>G (p.Thr1195Ala)	LRBA (T1195A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281585	NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly)	LRBA (A1090G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 432310	NM_001364905.1(LRBA):c.2516G>A (p.Arg839His)	LRBA (R839H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218542	NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)	LRBA (N815S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1222915	NM_001364905.1(LRBA):c.2368-284A>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237518	NM_001364905.1(LRBA):c.2367+96A>C	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245858	NM_001364905.1(LRBA):c.2258+173T>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389282	NM_001364905.1(LRBA):c.2166-10A>G	LRBA	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 1283841	NM_001364905.1(LRBA):c.1756-140G>A	LRBA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1224143	NM_001364905.1(LRBA):c.1756-207G>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233412	NM_001364905.1(LRBA):c.1756-238T>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272170	NM_001364905.1(LRBA):c.1755+202T>G	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174165	NM_001364905.1(LRBA):c.1360-40A>G	LRBA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1166827	NM_001364905.1(LRBA):c.1347A>G (p.Ala449=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 439867	NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser)	LRBA (N439S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GUncertain significance
Select item 1303373	NM_001364905.1(LRBA):c.1180G>C (p.Ala394Pro)	LRBA (A394P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1247375	NM_001364905.1(LRBA):c.1161+101del	LRBA	Deletion (intron variant)	not provided	GBenign
Select item 473165	NM_001364905.1(LRBA):c.1144T>C (p.Leu382=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign
Select item 1274778	NM_001364905.1(LRBA):c.1015-159A>G	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
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 1246249	NM_001364905.1(LRBA):c.646-154C>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222477	NM_001364905.1(LRBA):c.646-264T>G	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign

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