Related gene-specific medical variations for Gene (Select 987) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246684	NC_000004.11:g.(?_151509219)_(151514947_?)del	LRBA	Deletion	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 3246683	NC_000004.11:g.(?_151223757)_(151271331_?)dup	LRBA	Duplication	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 3246681	NC_000004.11:g.(?_151738256)_(151738429_?)dup	LRBA	Duplication	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 3246680	NC_000004.11:g.(?_151388805)_(151392911_?)del	LRBA	Deletion	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 3246678	NC_000004.11:g.(?_151682915)_(151719314_?)del	LRBA	Deletion	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 3246677	NC_000004.11:g.(?_151719213)_(151749793_?)del	LRBA	Deletion	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 3246676	NC_000004.11:g.(?_151765790)_(151774115_?)del	LRBA	Deletion	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 3246675	NC_000004.11:g.(?_151769950)_(151793927_?)del	LRBA	Deletion	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 3246672	NC_000004.11:g.(?_151792477)_(151793927_?)del	LRBA	Deletion	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 3121823	NM_006439.5(MAB21L2):c.883T>G (p.Cys295Gly)	LRBA, MAB21L2 (C295G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3064182	NM_006439.5(MAB21L2):c.840C>G (p.Tyr280Ter)	LRBA, MAB21L2 (Y280*)	Single nucleotide variant (nonsense +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GPathogenic
Select item 3041866	NM_006439.5(MAB21L2):c.657C>A (p.Thr219=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	MAB21L2-related disorder	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 2850733	NM_006439.5(MAB21L2):c.342C>G (p.Val114=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2817799	NM_006439.5(MAB21L2):c.315G>C (p.Gly105=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805073	NM_006439.5(MAB21L2):c.395T>G (p.Phe132Cys)	LRBA, MAB21L2 (F132C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2582480	NM_001364905.1(LRBA):c.6994A>G (p.Ile2332Val)	LRBA (I2332V +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2559007	NM_006439.5(MAB21L2):c.809A>G (p.Asn270Ser)	LRBA, MAB21L2 (N270S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475970	NM_006439.5(MAB21L2):c.1058C>T (p.Pro353Leu)	LRBA, MAB21L2 (P353L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442233	NM_001364905.1(LRBA):c.345dup (p.Ala116fs)	LRBA (A116fs)	Duplication (frameshift variant)	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 2433513	NM_001364905.1(LRBA):c.4832C>T (p.Thr1611Ile)	LRBA (T1611I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2433511	NM_001364905.1(LRBA):c.4369G>C (p.Glu1457Gln)	LRBA (E1457Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2433510	NM_001364905.1(LRBA):c.5453T>C (p.Phe1818Ser)	LRBA (F1818S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2317202	NM_006439.5(MAB21L2):c.829C>G (p.Leu277Val)	LRBA, MAB21L2 (L277V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2077754	NM_006439.5(MAB21L2):c.646T>A (p.Tyr216Asn)	LRBA, MAB21L2 (Y216N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2076966	NM_006439.5(MAB21L2):c.48C>T (p.Tyr16=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	MAB21L2-related disorder +1 more	GLikely benign
Select item 1965664	NM_006439.5(MAB21L2):c.478T>C (p.Leu160=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1801448	NM_001364905.1(LRBA):c.7195-22597_7195-22596insGCTGGTCGGCGGTGGCTCACGCCTGTAATCCAGCACTTTGGGGAGGCTCGAGCGGGCTGGATCAAAGGTCAGGAGATCGTGTGACCATCTTGGCTAACAACGGTTAAGCCACCGTCTCTTACAAAATACAAAAATTATCCGGGCGCGTGGCGGGCGCCTGTAGTCCCGCAGCTACTCGGGAGGCTGAGGCGGAAGAATGGCGTGAACCTGGGAGGCGTGAAGCTTGCAGTGACCGAGATGTGGTGTCGCCACTGCAATCCGGCCTGGCTAACCGAGCGGACTCCAGTCTCAAAAAAAAAAATAAAAAAAACAAAAAAAAAAAAAAGAACTTACTAA	LRBA	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1590846	NM_006439.5(MAB21L2):c.978C>T (p.Leu326=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527131	GRCh37/hg19 4q31.3(chr4:151668145-151830578)	LRBA	Copy number loss	not specified	GUncertain significance
Select item 1490377	NM_006439.5(MAB21L2):c.200A>G (p.Glu67Gly)	MAB21L2, LRBA (E67G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1340215	GRCh37/hg19 4q31.3(chr4:151803708-151953453)x1	LRBA	Copy number loss	not provided	GUncertain significance
Select item 1324677	NM_001364905.1(LRBA):c.6331-2A>G	LRBA	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 1299534	NM_006439.5(MAB21L2):c.881C>A (p.Ser294Ter)	LRBA, MAB21L2 (S294*)	Single nucleotide variant (nonsense +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GPathogenic
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 1235505	NM_006439.5(MAB21L2):c.*83G>A	LRBA, MAB21L2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1213763	NM_001364905.1(LRBA):c.6331-14021C>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1098655	NM_001364905.1(LRBA):c.4111G>A (p.Ala1371Thr)	LRBA (A1371T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1079255	NM_006439.5(MAB21L2):c.318G>A (p.Arg106=)	LRBA, MAB21L2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1034276	NM_006439.5(MAB21L2):c.7G>A (p.Ala3Thr)	LRBA, MAB21L2 (A3T)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GUncertain significance
Select item 1021340	NM_006439.5(MAB21L2):c.650C>A (p.Ser217Ter)	LRBA, MAB21L2 (S217*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 988081	NM_006439.5(MAB21L2):c.457G>A (p.Ala153Thr)	LRBA, MAB21L2 (A153T)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GUncertain significance
Select item 976482	NM_006439.5(MAB21L2):c.287_295del (p.Gly96_Ala98del)	LRBA, MAB21L2	Deletion (inframe_deletion +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GUncertain significance
Select item 973590	NM_001364905.1(LRBA):c.4333C>T (p.Arg1445Ter)	LRBA (R1445*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 931116	NM_006439.5(MAB21L2):c.343G>T (p.Glu115Ter)	LRBA, MAB21L2 (E115*)	Single nucleotide variant (nonsense +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GUncertain significance
Select item 929565	NM_006439.5(MAB21L2):c.1A>C (p.Met1Leu)	MAB21L2, LRBA (M1L)	Single nucleotide variant (missense variant +2 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic
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 804449	NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)	LRBA (S2624fs +2 more)	Deletion (frameshift variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 795955	NM_006439.5(MAB21L2):c.6C>T (p.Ile2=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 758373	NM_006439.5(MAB21L2):c.360G>C (p.Ser120=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738340	NM_006439.5(MAB21L2):c.405G>T (p.Leu135=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 687769	GRCh37/hg19 4q31.3(chr4:151284899-151403757)x3	LRBA	Copy number gain	not provided	GUncertain significance
Select item 636668	NM_001364905.1(LRBA):c.8350C>T (p.Leu2784Phe)	LRBA (L2784F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636571	NM_001364905.1(LRBA):c.2258+2T>G	LRBA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 504384	NM_006439.5(MAB21L2):c.490_491insCGCTCATCAGGG (p.Arg163_Glu164insAlaLeuIleArg)	LRBA, MAB21L2	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 450889	NM_006439.5(MAB21L2):c.977T>C (p.Leu326Pro)	MAB21L2, LRBA (L326P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 427785	NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly)	MAB21L2, LRBA (R51G)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GPathogenic
Select item 139623	NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln)	LRBA, MAB21L2 (R247Q)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic
Select item 139622	NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys)	LRBA, MAB21L2 (E49K)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic
Select item 139621	NM_006439.5(MAB21L2):c.151C>T (p.Arg51Cys)	LRBA, MAB21L2 (R51C)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic
Select item 139620	NM_006439.5(MAB21L2):c.152G>A (p.Arg51His)	LRBA, MAB21L2 (R51H)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic

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Items: 69