ClinVar for MedGen (Select 766426) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25856031.	NM_001364905.1(LRBA):c.6056A>G (p.Glu2019Gly) GRCh37: Chr4:151512002 GRCh38: Chr4:150590850	LRBA	E2019G, E2030G	Combined immunodeficiency due to LRBA deficiency	Uncertain significance	criteria provided, single submitter
Select item 25856022.	NM_001364905.1(LRBA):c.5234C>G (p.Pro1745Arg) GRCh37: Chr4:151738347 GRCh38: Chr4:150817195	LRBA	P1745R	Combined immunodeficiency due to LRBA deficiency	Uncertain significance	criteria provided, single submitter
Select item 25853603.	NM_001364905.1(LRBA):c.5921+1G>A GRCh37: Chr4:151604702 GRCh38: Chr4:150683550	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely pathogenic	criteria provided, single submitter
Select item 25852124.	NM_001364905.1(LRBA):c.6998C>T (p.Ser2333Phe) GRCh37: Chr4:151356784 GRCh38: Chr4:150435632	LRBA	S2344F, S2333F	Combined immunodeficiency due to LRBA deficiency	Uncertain significance	criteria provided, single submitter
Select item 25844895.	NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter) GRCh37: Chr4:151818962 GRCh38: Chr4:150897810	LRBA	R645*	Combined immunodeficiency due to LRBA deficiency	Pathogenic	criteria provided, single submitter
Select item 25824806.	NM_001364905.1(LRBA):c.6994A>G (p.Ile2332Val) GRCh37: Chr4:151356788 GRCh38: Chr4:150435636	LRBA	I2332V, I2343V	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Mar 3, 2023)	criteria provided, single submitter
Select item 25725647.	NM_001364905.1(LRBA):c.5645+1G>C GRCh37: Chr4:151682934 GRCh38: Chr4:150761782	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely pathogenic	criteria provided, single submitter
Select item 25724898.	NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs) GRCh37: Chr4:151749491-151749492 GRCh38: Chr4:150828339-150828340	LRBA	S1671fs	Combined immunodeficiency due to LRBA deficiency	Likely pathogenic	criteria provided, single submitter
Select item 24441329.	NM_001364905.1(LRBA):c.8107_8110del (p.Ser2703fs) GRCh37: Chr4:151207094-151207097 GRCh38: Chr4:150285942-150285945	LRBA	S2702fs, S2703fs, S2708fs, S2714fs	Combined immunodeficiency due to LRBA deficiency	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244223310.	NM_001364905.1(LRBA):c.345dup (p.Ala116fs) GRCh37: Chr4:151850088-151850089 GRCh38: Chr4:150928936-150928937	LRBA	A116fs	Combined immunodeficiency due to LRBA deficiency	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 243351311.	NM_001364905.1(LRBA):c.4832C>T (p.Thr1611Ile) GRCh37: Chr4:151749671 GRCh38: Chr4:150828519	LRBA	T1611I	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 243351112.	NM_001364905.1(LRBA):c.4369G>C (p.Glu1457Gln) GRCh37: Chr4:151765902 GRCh38: Chr4:150844750	LRBA	E1457Q	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Feb 11, 2021)	criteria provided, single submitter
Select item 243351013.	NM_001364905.1(LRBA):c.5453T>C (p.Phe1818Ser) GRCh37: Chr4:151727488 GRCh38: Chr4:150806336	LRBA	F1818S	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Apr 21, 2021)	criteria provided, single submitter
Select item 243172414.	NM_001364905.1(LRBA):c.4158+1G>C GRCh37: Chr4:151770573 GRCh38: Chr4:150849421	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 243149015.	NM_001364905.1(LRBA):c.4466del (p.Pro1489fs) GRCh37: Chr4:151765355 GRCh38: Chr4:150844203	LRBA	P1489fs	Combined immunodeficiency due to LRBA deficiency	Likely pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 242564016.	NC_000004.11:g.(?_151814184)_(151935794_?)dup GRCh37: Chr4:151814184-151935794	LRBA		Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 242563917.	NC_000004.11:g.(?_151186874)_(151199176_?)dup GRCh37: Chr4:151186874-151199176	LRBA		Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 242563818.	NC_000004.11:g.(?_151719213)_(151935794_?)dup GRCh37: Chr4:151719213-151935794	LRBA		Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 242563719.	NC_000004.11:g.(?_151186874)_(151186984_?)dup GRCh37: Chr4:151186874-151186984	LRBA		Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 242563620.	NC_000004.11:g.(?_151604683)_(151604889_?)dup GRCh37: Chr4:151604683-151604889	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 242563521.	NC_000004.11:g.(?_151849648)_(151850237_?)del GRCh37: Chr4:151849648-151850237	LRBA		Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 242563422.	NC_000004.11:g.(?_151765232)_(151850237_?)del GRCh37: Chr4:151765232-151850237	LRBA		Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 242192723.	NM_001364905.1(LRBA):c.1755G>C (p.Lys585Asn) GRCh37: Chr4:151826990 GRCh38: Chr4:150905838	LRBA	K585N	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 241951524.	NM_001364905.1(LRBA):c.3496C>G (p.Gln1166Glu) GRCh37: Chr4:151773366 GRCh38: Chr4:150852214	LRBA	Q1166E	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 241804525.	NM_001364905.1(LRBA):c.1938T>C (p.Pro646=) GRCh37: Chr4:151818957 GRCh38: Chr4:150897805	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 241801926.	NM_001364905.1(LRBA):c.3961G>A (p.Asp1321Asn) GRCh37: Chr4:151771919 GRCh38: Chr4:150850767	LRBA	D1321N	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 241583027.	NM_001364905.1(LRBA):c.6045T>C (p.His2015=) GRCh37: Chr4:151520160 GRCh38: Chr4:150599008	LRBA		Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 241418328.	NM_001364905.1(LRBA):c.3123G>A (p.Glu1041=) GRCh37: Chr4:151773739 GRCh38: Chr4:150852587	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 241410729.	NM_001364905.1(LRBA):c.2471C>A (p.Thr824Asn) GRCh37: Chr4:151789436 GRCh38: Chr4:150868284	LRBA	T824N	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 241388630.	NM_001364905.1(LRBA):c.630A>G (p.Pro210=) GRCh37: Chr4:151842365 GRCh38: Chr4:150921213	LRBA		Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 241364631.	NM_001364905.1(LRBA):c.6020C>T (p.Ala2007Val) GRCh37: Chr4:151520185 GRCh38: Chr4:150599033	LRBA	A2007V	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 220357732.	NM_001364905.1(LRBA):c.3156del (p.Asp1053fs) GRCh37: Chr4:151773706 GRCh38: Chr4:150852554	LRBA	D1053fs	Combined immunodeficiency due to LRBA deficiency	Pathogenic (Apr 9, 2022)	criteria provided, single submitter
Select item 220258033.	NM_001364905.1(LRBA):c.5714G>C (p.Arg1905Thr) GRCh37: Chr4:151656450 GRCh38: Chr4:150735298	LRBA	R1905T	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 220218434.	NM_001364905.1(LRBA):c.5059A>G (p.Asn1687Asp) GRCh37: Chr4:151749444 GRCh38: Chr4:150828292	LRBA	N1687D	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 220157235.	NM_001364905.1(LRBA):c.345A>C (p.Thr115=) GRCh37: Chr4:151850089 GRCh38: Chr4:150928937	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 220027536.	NM_001364905.1(LRBA):c.2468C>T (p.Ala823Val) GRCh37: Chr4:151789439 GRCh38: Chr4:150868287	LRBA	A823V	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 219891237.	NM_001364905.1(LRBA):c.3790G>A (p.Val1264Met) GRCh37: Chr4:151773072 GRCh38: Chr4:150851920	LRBA	V1264M	Inborn genetic diseases, Combined immunodeficiency due to LRBA deficiency	Conflicting interpretations of pathogenicity (Jun 2, 2023)	criteria provided, conflicting interpretations
Select item 219762238.	NM_001364905.1(LRBA):c.4123A>G (p.Ile1375Val) GRCh37: Chr4:151770609 GRCh38: Chr4:150849457	LRBA	I1375V	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 219740339.	NM_001364905.1(LRBA):c.2824A>G (p.Lys942Glu) GRCh37: Chr4:151774038 GRCh38: Chr4:150852886	LRBA	K942E	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 219284340.	NM_001364905.1(LRBA):c.3899G>T (p.Arg1300Ile) GRCh37: Chr4:151771981 GRCh38: Chr4:150850829	LRBA	R1300I	Combined immunodeficiency due to LRBA deficiency	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 219275141.	NM_001364905.1(LRBA):c.3044C>G (p.Ser1015Cys) GRCh37: Chr4:151773818 GRCh38: Chr4:150852666	LRBA	S1015C	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 219021742.	NM_001364905.1(LRBA):c.2189C>T (p.Ser730Leu) GRCh37: Chr4:151793884 GRCh38: Chr4:150872732	LRBA	S730L	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 218989143.	NM_001364905.1(LRBA):c.7992C>T (p.Cys2664=) GRCh37: Chr4:151223802 GRCh38: Chr4:150302650	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 218948544.	NM_001364905.1(LRBA):c.4403G>T (p.Gly1468Val) GRCh37: Chr4:151765868 GRCh38: Chr4:150844716	LRBA	G1468V	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 218940145.	NM_001364905.1(LRBA):c.7850-7A>G GRCh37: Chr4:151223951 GRCh38: Chr4:150302799	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 218854846.	NM_001364905.1(LRBA):c.7776C>T (p.Ile2592=) GRCh37: Chr4:151231454 GRCh38: Chr4:150310302	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 218851347.	NM_001364905.1(LRBA):c.4410A>T (p.Lys1470Asn) GRCh37: Chr4:151765861 GRCh38: Chr4:150844709	LRBA	K1470N	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 218846848.	NM_001364905.1(LRBA):c.2449+1G>A GRCh37: Chr4:151791676 GRCh38: Chr4:150870524	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 218607149.	NM_001364905.1(LRBA):c.477G>A (p.Leu159=) GRCh37: Chr4:151849740 GRCh38: Chr4:150928588	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 218390750.	NM_001364905.1(LRBA):c.6162C>T (p.Ser2054=) GRCh37: Chr4:151511896 GRCh38: Chr4:150590744	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 218056651.	NM_001364905.1(LRBA):c.7405C>T (p.Gln2469Ter) GRCh37: Chr4:151247008 GRCh38: Chr4:150325856	LRBA	Q2469, Q2480	Combined immunodeficiency due to LRBA deficiency	Pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 218004752.	NM_001364905.1(LRBA):c.1755+18A>G GRCh37: Chr4:151826972 GRCh38: Chr4:150905820	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 217781853.	NM_001364905.1(LRBA):c.449-18G>A GRCh37: Chr4:151849786 GRCh38: Chr4:150928634	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 217577054.	NM_001364905.1(LRBA):c.8240A>G (p.Tyr2747Cys) GRCh37: Chr4:151203678 GRCh38: Chr4:150282526	LRBA	Y2746C, Y2747C, Y2758C, Y2752C	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 217338455.	NM_001364905.1(LRBA):c.4158+19T>C GRCh37: Chr4:151770555 GRCh38: Chr4:150849403	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 217237256.	NM_001364905.1(LRBA):c.4158+18A>G GRCh37: Chr4:151770556 GRCh38: Chr4:150849404	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 217128357.	NM_001364905.1(LRBA):c.6781-17T>C GRCh37: Chr4:151358033 GRCh38: Chr4:150436881	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 217127258.	NM_001364905.1(LRBA):c.6331-5A>G GRCh37: Chr4:151412192 GRCh38: Chr4:150491040	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Jan 17, 2020)	criteria provided, single submitter
Select item 217066459.	NM_001364905.1(LRBA):c.5080A>T (p.Thr1694Ser) GRCh37: Chr4:151749423 GRCh38: Chr4:150828271	LRBA	T1694S	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 216976160.	NM_001364905.1(LRBA):c.6123C>T (p.Asn2041=) GRCh37: Chr4:151511935 GRCh38: Chr4:150590783	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 216762061.	NM_001364905.1(LRBA):c.6330+10T>A GRCh37: Chr4:151509190 GRCh38: Chr4:150588038	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 216714562.	NM_001364905.1(LRBA):c.8291C>T (p.Thr2764Met) GRCh37: Chr4:151203627 GRCh38: Chr4:150282475	LRBA	T2763M, T2775M, T2764M, T2769M	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 216605063.	NM_001364905.1(LRBA):c.5581-4dup GRCh37: Chr4:151683002-151683003 GRCh38: Chr4:150761850-150761851	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 216571664.	NM_001364905.1(LRBA):c.5586G>A (p.Trp1862Ter) GRCh37: Chr4:151682994 GRCh38: Chr4:150761842	LRBA	W1862*	Combined immunodeficiency due to LRBA deficiency	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 216474465.	NM_001364905.1(LRBA):c.2165+12T>G GRCh37: Chr4:151814192 GRCh38: Chr4:150893040	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 216470966.	NM_001364905.1(LRBA):c.4729+9G>T GRCh37: Chr4:151752960 GRCh38: Chr4:150831808	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 216247667.	NM_001364905.1(LRBA):c.2574-17C>G GRCh37: Chr4:151789032 GRCh38: Chr4:150867880	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 215951368.	NM_001364905.1(LRBA):c.8376C>T (p.Val2792=) GRCh37: Chr4:151199097 GRCh38: Chr4:150277945	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 215903569.	NM_001364905.1(LRBA):c.946C>T (p.Leu316Phe) GRCh37: Chr4:151836828 GRCh38: Chr4:150915676	LRBA	L316F	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 215818870.	NM_001364905.1(LRBA):c.7766G>A (p.Cys2589Tyr) GRCh37: Chr4:151231464 GRCh38: Chr4:150310312	LRBA	C2594Y, C2589Y, C2600Y	Combined immunodeficiency due to LRBA deficiency	Benign (Mar 24, 2022)	criteria provided, single submitter
Select item 215810571.	NM_001364905.1(LRBA):c.7100A>C (p.Asn2367Thr) GRCh37: Chr4:151336684 GRCh38: Chr4:150415532	LRBA	N2367T, N2378T	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 215802372.	NM_001364905.1(LRBA):c.6021G>T (p.Ala2007=) GRCh37: Chr4:151520184 GRCh38: Chr4:150599032	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 215638273.	NM_001364905.1(LRBA):c.1011C>T (p.Ser337=) GRCh37: Chr4:151836763 GRCh38: Chr4:150915611	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 215557574.	NM_001364905.1(LRBA):c.767+7A>G GRCh37: Chr4:151837762 GRCh38: Chr4:150916610	LRBA		Combined immunodeficiency due to LRBA deficiency	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 215307675.	NM_001364905.1(LRBA):c.894+17A>C GRCh37: Chr4:151837536 GRCh38: Chr4:150916384	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 214923276.	NM_001364905.1(LRBA):c.2766+9C>G GRCh37: Chr4:151788814 GRCh38: Chr4:150867662	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 214847677.	NM_001364905.1(LRBA):c.4462-12A>G GRCh37: Chr4:151765371 GRCh38: Chr4:150844219	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 214728678.	NM_001364905.1(LRBA):c.2004+11G>A GRCh37: Chr4:151818880 GRCh38: Chr4:150897728	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 214716379.	NM_001364905.1(LRBA):c.305G>T (p.Cys102Phe) GRCh37: Chr4:151850129 GRCh38: Chr4:150928977	LRBA	C102F	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 214656280.	NM_001364905.1(LRBA):c.7282C>T (p.Arg2428Ter) GRCh37: Chr4:151271224 GRCh38: Chr4:150350072	LRBA	R2428, R2439	Combined immunodeficiency due to LRBA deficiency	Pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 214636481.	NM_001364905.1(LRBA):c.2767-19T>G GRCh37: Chr4:151774114 GRCh38: Chr4:150852962	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 214616482.	NM_001364905.1(LRBA):c.1547A>G (p.Gln516Arg) GRCh37: Chr4:151827504 GRCh38: Chr4:150906352	LRBA	Q516R	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 214526883.	NM_001364905.1(LRBA):c.7013A>G (p.Asn2338Ser) GRCh37: Chr4:151356769 GRCh38: Chr4:150435617	LRBA	N2338S, N2349S	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 214419584.	NM_001364905.1(LRBA):c.1516A>T (p.Met506Leu) GRCh37: Chr4:151827535 GRCh38: Chr4:150906383	LRBA	M506L	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 214340785.	NM_001364905.1(LRBA):c.6383G>T (p.Arg2128Leu) GRCh37: Chr4:151412135 GRCh38: Chr4:150490983	LRBA	R2139L, R2128L	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 214267786.	NM_001364905.1(LRBA):c.6551+8T>G GRCh37: Chr4:151408876 GRCh38: Chr4:150487724	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 214266887.	NM_001364905.1(LRBA):c.4356A>G (p.Val1452=) GRCh37: Chr4:151765915 GRCh38: Chr4:150844763	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 214153388.	NM_001364905.1(LRBA):c.6330+8G>A GRCh37: Chr4:151509192 GRCh38: Chr4:150588040	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 214065389.	NM_001364905.1(LRBA):c.2737G>A (p.Val913Ile) GRCh37: Chr4:151788852 GRCh38: Chr4:150867700	LRBA	V913I	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 213486290.	NM_001364905.1(LRBA):c.214C>G (p.Leu72Val) GRCh37: Chr4:151935581 GRCh38: Chr4:151014429	LRBA	L72V	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 213454291.	NM_001364905.1(LRBA):c.3920C>G (p.Pro1307Arg) GRCh37: Chr4:151771960 GRCh38: Chr4:150850808	LRBA	P1307R	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 213276892.	NM_001364905.1(LRBA):c.1599A>G (p.Glu533=) GRCh37: Chr4:151827452 GRCh38: Chr4:150906300	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213128693.	NM_001364905.1(LRBA):c.7966T>C (p.Leu2656=) GRCh37: Chr4:151223828 GRCh38: Chr4:150302676	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213016994.	NM_001364905.1(LRBA):c.725T>C (p.Val242Ala) GRCh37: Chr4:151837811 GRCh38: Chr4:150916659	LRBA	V242A	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 213006295.	NM_001364905.1(LRBA):c.8305G>A (p.Asp2769Asn) GRCh37: Chr4:151203613 GRCh38: Chr4:150282461	LRBA	D2774N, D2780N, D2769N, D2768N	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212977196.	NM_001364905.1(LRBA):c.6897T>A (p.Phe2299Leu) GRCh37: Chr4:151357900 GRCh38: Chr4:150436748	LRBA	F2310L, F2299L	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 212894997.	NM_001364905.1(LRBA):c.8468+19G>A GRCh37: Chr4:151198986 GRCh38: Chr4:150277834	LRBA		Combined immunodeficiency due to LRBA deficiency	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212817498.	NM_001364905.1(LRBA):c.3461_3464del (p.Leu1154fs) GRCh37: Chr4:151773398-151773401 GRCh38: Chr4:150852246-150852249	LRBA	L1154fs	Combined immunodeficiency due to LRBA deficiency	Pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 212747099.	NM_001364905.1(LRBA):c.1379C>A (p.Thr460Lys) GRCh37: Chr4:151829600 GRCh38: Chr4:150908448	LRBA	T460K	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 2127404100.	NM_001364905.1(LRBA):c.7349C>T (p.Pro2450Leu) GRCh37: Chr4:151271157 GRCh38: Chr4:150350005	LRBA	P2450L, P2461L	Combined immunodeficiency due to LRBA deficiency	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter

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