"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LRBA"[gene - ClinVar

Search results

Items: 87

	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)	LRBA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 809687	NM_001364905.1(LRBA):c.8450C>T (p.Ala2817Val)	LRBA (A2817V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1695112	NM_001364905.1(LRBA):c.8426G>A (p.Cys2809Tyr)	LRBA (C2808Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 540415	NM_001364905.1(LRBA):c.8328G>A (p.Leu2776=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 751417	NM_001364905.1(LRBA):c.8200C>T (p.Leu2734Phe)	LRBA (L2734F +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GLikely benign
Select item 804448	NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)	LRBA (N2727fs +3 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1298970	NM_001364905.1(LRBA):c.8064G>T (p.Glu2688Asp)	LRBA (E2687D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779633	NM_001364905.1(LRBA):c.8061T>C (p.Tyr2687=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1167474	NM_001364905.1(LRBA):c.8018-13dup	LRBA	Duplication (intron variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign/Likely benign
Select item 960851	NM_001364905.1(LRBA):c.7888G>A (p.Val2630Ile)	LRBA (V2630I +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 493401	NM_001364905.1(LRBA):c.7849+2T>C	LRBA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1176173	NM_001364905.1(LRBA):c.7619A>G (p.His2540Arg)	LRBA (H2540R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439869	NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)	LRBA (T2533P +2 more)	Single nucleotide variant (missense variant)	LRBA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 540407	NM_001364905.1(LRBA):c.7404T>C (p.Ser2468=)	LRBA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1176174	NM_001364905.1(LRBA):c.7010G>A (p.Arg2337Gln)	LRBA (R2337Q +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GUncertain significance
Select item 1176175	NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter)	LRBA (R2337* +1 more)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to LRBA deficiency +1 more	GPathogenic
Select item 197550	NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)	LRBA (T2307N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 950031	NM_001364905.1(LRBA):c.6848A>T (p.Asp2283Val)	LRBA (D2283V +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 1176176	NM_001364905.1(LRBA):c.6829del (p.Tyr2277fs)	LRBA (Y2277fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 837277	NM_001364905.1(LRBA):c.6827G>A (p.Arg2276His)	LRBA (R2287H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 624047	NM_001364905.1(LRBA):c.6766A>G (p.Arg2256Gly)	LRBA (R2256G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3027084	NM_001364905.1(LRBA):c.6735A>T (p.Glu2245Asp)	LRBA (E2245D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809688	NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter)	LRBA (R2203* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 540405	NM_001364905.1(LRBA):c.6387A>C (p.Ser2129=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 740585	NM_001364905.1(LRBA):c.6375A>G (p.Thr2125=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3027346	NM_006439.5(MAB21L2):c.498T>G (p.Tyr166Ter)	LRBA, MAB21L2 (Y166*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 707229	NM_006439.5(MAB21L2):c.954C>T (p.His318=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 546966	NM_001364905.1(LRBA):c.6274G>A (p.Glu2092Lys)	LRBA (E2103K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809689	NM_001364905.1(LRBA):c.6273C>T (p.Ser2091=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1298971	NM_001364905.1(LRBA):c.6079C>T (p.Gln2027Ter)	LRBA (Q2027* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 809690	NM_001364905.1(LRBA):c.6037G>A (p.Val2013Met)	LRBA (V2013M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779635	NM_001364905.1(LRBA):c.6036C>T (p.Ala2012=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 644705	NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)	LRBA (G1969A)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 1045586	NM_001364905.1(LRBA):c.5876A>G (p.Asn1959Ser)	LRBA (N1959S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 577813	NM_001364905.1(LRBA):c.5831A>G (p.Tyr1944Cys)	LRBA (Y1944C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 809691	NM_001364905.1(LRBA):c.5522T>C (p.Leu1841Pro)	LRBA (L1841P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1012505	NM_001364905.1(LRBA):c.5502G>A (p.Leu1834=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely benign
Select item 425340	NM_001364905.1(LRBA):c.5241T>C (p.Asn1747=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign/Likely benign
Select item 2655122	NM_001364905.1(LRBA):c.5069C>T (p.Ala1690Val)	LRBA (A1690V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 540408	NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)	LRBA (N1677S)	Single nucleotide variant (missense variant)	LRBA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 872270	NM_001364905.1(LRBA):c.4975G>A (p.Gly1659Arg)	LRBA (G1659R)	Single nucleotide variant (missense variant)	not provided	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 1448158	NM_001364905.1(LRBA):c.4793C>T (p.Ser1598Leu)	LRBA (S1598L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 809692	NM_001364905.1(LRBA):c.4763C>T (p.Thr1588Met)	LRBA (T1588M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 540409	NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val)	LRBA (F1531V)	Single nucleotide variant (missense variant)	LRBA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 809693	NM_001364905.1(LRBA):c.4228C>G (p.Leu1410Val)	LRBA (L1410V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809694	NM_001364905.1(LRBA):c.4112C>T (p.Ala1371Val)	LRBA (A1371V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498961	NM_001364905.1(LRBA):c.4080C>T (p.Leu1360=)	LRBA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 522232	NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related condition +2 more	GBenign/Likely benign
Select item 473173	NM_001364905.1(LRBA):c.3373C>T (p.Leu1125=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely benign
Select item 2655123	NM_001364905.1(LRBA):c.3264G>A (p.Glu1088=)	LRBA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 947589	NM_001364905.1(LRBA):c.3244A>G (p.Ile1082Val)	LRBA (I1082V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 872271	NM_001364905.1(LRBA):c.3202A>G (p.Thr1068Ala)	LRBA (T1068A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879617	NM_001364905.1(LRBA):c.3196A>G (p.Ile1066Val)	LRBA (I1066V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790906	NM_001364905.1(LRBA):c.3009T>A (p.Ser1003=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2018710	NM_001364905.1(LRBA):c.2820A>G (p.Gln940=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely benign
Select item 872272	NM_001364905.1(LRBA):c.2766+2T>C	LRBA	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 473172	NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)	LRBA (A892T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 966624	NM_001364905.1(LRBA):c.2662G>A (p.Glu888Lys)	LRBA (E888K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 594578	NM_001364905.1(LRBA):c.2637G>A (p.Lys879=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1675967	NM_001364905.1(LRBA):c.2586A>G (p.Gln862=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GLikely benign
Select item 289297	NM_001364905.1(LRBA):c.2526T>C (p.Phe842=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related condition +3 more	GBenign/Likely benign
Select item 218542	NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)	LRBA (N815S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1176177	NM_001364905.1(LRBA):c.2439A>G (p.Ile813Met)	LRBA (I813M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289382	NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 283042	NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile)	LRBA (V737I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GConflicting classifications of pathogenicity
Select item 845723	NM_001364905.1(LRBA):c.1931C>T (p.Pro644Leu)	LRBA (P644L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 567806	NM_001364905.1(LRBA):c.1924+4_1924+7del	LRBA	Microsatellite (splice donor variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 1444794	NM_001364905.1(LRBA):c.1774A>G (p.Thr592Ala)	LRBA (T592A)	Single nucleotide variant (missense variant)	not provided +1 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 284747	NM_001364905.1(LRBA):c.1713C>T (p.His571=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1176178	NM_001364905.1(LRBA):c.1691del (p.Leu564fs)	LRBA (L564fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 287150	NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)	LRBA (M467V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 758352	NM_001364905.1(LRBA):c.1071C>T (p.Phe357=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related condition +2 more	GLikely benign
Select item 444642	NM_001364905.1(LRBA):c.839del (p.Lys280fs)	LRBA (K280fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 932581	NM_001364905.1(LRBA):c.834A>G (p.Ser278=)	LRBA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624048	NM_001364905.1(LRBA):c.782A>G (p.Lys261Arg)	LRBA (K261R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1012506	NM_001364905.1(LRBA):c.240G>A (p.Leu80=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GConflicting classifications of pathogenicity
Select item 425341	NM_001364905.1(LRBA):c.114G>T (p.Gly38=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 719011	NM_001364905.1(LRBA):c.52G>A (p.Gly18Arg)	LRBA (G18R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign
Select item 3024633	GRCh37/hg19 4q31.3(chr4:151592672-152212605)x3	LRBA, PRSS48 +3 more	Copy number gain	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 809723	GRCh37/hg19 4q31.3(chr4:151207085-151207186)x1	LRBA	Copy number loss	not provided	GLikely pathogenic
Select item 809722	GRCh37/hg19 4q31.3(chr4:151203602-151203798)x1	LRBA	Copy number loss	not provided	GLikely pathogenic
Select item 809721	GRCh37/hg19 4q31.3(chr4:151199005-151199156)x1	LRBA	Copy number loss	not provided	GLikely pathogenic
Select item 809720	GRCh37/hg19 4q31.3(chr4:151186874-151186964)x1	LRBA	Copy number loss	not provided	GLikely pathogenic
Select item 547107	GRCh37/hg19 4q31.3(chr4:151678774-152065504)x3	LRBA, RPS3A +2 more	Copy number gain	not provided	GLikely benign

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: 87