MAB21L2[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
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 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	AADAT, ANP32C +481 more	Copy number gain	See cases	GPathogenic
Select item 148523	GRCh38/hg38 4q31.3(chr4:150307813-150937457)x4	LOC123493216, LOC123493217 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1252326	NM_001364905.1(LRBA):c.6330+5943C>G	LRBA, MAB21L2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 2076966	NM_006439.5(MAB21L2):c.48C>T (p.Tyr16=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	MAB21L2-related condition +1 more	GLikely benign
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 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 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
Select item 1490377	NM_006439.5(MAB21L2):c.200A>G (p.Glu67Gly)	LRBA, MAB21L2 (E67G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 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 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 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 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 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 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 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 1965664	NM_006439.5(MAB21L2):c.478T>C (p.Leu160=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 3041866	NM_006439.5(MAB21L2):c.657C>A (p.Thr219=)	LRBA, MAB21L2	Single nucleotide variant (synonymous variant +1 more)	MAB21L2-related condition	GLikely benign
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 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 2317202	NM_006439.5(MAB21L2):c.829C>G (p.Leu277Val)	MAB21L2, LRBA (L277V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 504470	NM_006439.5(MAB21L2):c.927dup (p.Cys310fs)	LRBA, MAB21L2 (C310fs)	Duplication (frameshift variant +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 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 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 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 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 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527130	GRCh37/hg19 4q31.3(chr4:151478271-151530763)	LRBA, MAB21L2	Copy number loss	not specified	GUncertain significance
Select item 1458653	NC_000004.11:g.(?_151504182)_(151656538_?)del	LRBA, MAB21L2	Deletion	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 1074570	NC_000004.11:g.(?_151336570)_(151520303_?)del	LRBA, MAB21L2	Deletion	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 1040778	NC_000004.11:g.(?_151336570)_(151604889_?)del	LRBA, MAB21L2	Deletion	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 915998	GRCh37/hg19 4q31.3(chr4:151441408-151719830)	LRBA, MAB21L2	Copy number loss	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 832622	NC_000004.12:g.(?_150415418)_(150817277_?)del	LRBA, MAB21L2	Deletion	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 688267	GRCh37/hg19 4q31.3(chr4:151276833-151511404)x1	LRBA, MAB21L2	Copy number loss	not provided	GUncertain significance
Select item 687200	GRCh37/hg19 4q31.3(chr4:151428984-151807861)x1	LRBA, MAB21L2	Copy number loss	not provided	GUncertain significance
Select item 562977	GRCh37/hg19 4q31.3(chr4:151357404-151633842)x1	MAB21L2, LRBA	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

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Items: 70