"LRBA-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 52

	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 disorder +3 more	GConflicting classifications of pathogenicity
Select item 2629236	NM_001364905.1(LRBA):c.8534A>G (p.His2845Arg)	LRBA (H2844R +3 more)	Single nucleotide variant (missense variant)	LRBA-related disorder	GUncertain significance
Select item 836509	NM_001364905.1(LRBA):c.8515A>G (p.Asn2839Asp)	LRBA (N2838D +3 more)	Single nucleotide variant (missense variant)	LRBA-related disorder +1 more	GUncertain significance
Select item 1416030	NM_001364905.1(LRBA):c.8430C>G (p.Asp2810Glu)	LRBA (D2809E +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 713202	NM_001364905.1(LRBA):c.8403G>C (p.Lys2801Asn)	LRBA (K2801N +3 more)	Single nucleotide variant (missense variant)	LRBA-related disorder +1 more	GBenign/Likely benign
Select item 751417	NM_001364905.1(LRBA):c.8200C>T (p.Leu2734Phe)	LRBA (L2734F +3 more)	Single nucleotide variant (missense variant)	LRBA-related disorder +2 more	GLikely benign
Select item 1116598	NM_001364905.1(LRBA):c.7887C>G (p.Val2629=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GLikely benign
Select item 720276	NM_001364905.1(LRBA):c.7605G>A (p.Ala2535=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GLikely benign
Select item 439869	NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)	LRBA (T2533P +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +3 more	GConflicting classifications of pathogenicity
Select item 197550	NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)	LRBA (T2307N +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GConflicting classifications of pathogenicity
Select item 639957	NM_001364905.1(LRBA):c.6192C>T (p.Ala2064=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 748229	NM_001364905.1(LRBA):c.6046+7G>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GConflicting classifications of pathogenicity
Select item 657092	NM_001364905.1(LRBA):c.5899G>A (p.Ala1967Thr)	LRBA (A1967T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GUncertain significance
Select item 1666780	NM_001364905.1(LRBA):c.5755-10dup	LRBA	Duplication (intron variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign/Likely benign
Select item 1515835	NM_001364905.1(LRBA):c.5369C>T (p.Pro1790Leu)	LRBA (P1790L)	Single nucleotide variant (missense variant)	LRBA-related disorder +1 more	GUncertain significance
Select item 779636	NM_001364905.1(LRBA):c.5031T>C (p.Asn1677=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign/Likely benign
Select item 540408	NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)	LRBA (N1677S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1977241	NM_001364905.1(LRBA):c.4908A>G (p.Ala1636=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely benign
Select item 540414	NM_001364905.1(LRBA):c.4713G>A (p.Glu1571=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GBenign
Select item 540409	NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val)	LRBA (F1531V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 725384	NM_001364905.1(LRBA):c.4377A>G (p.Gln1459=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely benign
Select item 1634824	NM_001364905.1(LRBA):c.4350C>T (p.Val1450=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign/Likely benign
Select item 540413	NM_001364905.1(LRBA):c.4323G>A (p.Arg1441=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GLikely benign
Select item 1156651	NM_001364905.1(LRBA):c.4251T>C (p.Leu1417=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GLikely benign
Select item 522232	NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +2 more	GBenign/Likely benign
Select item 581781	NM_001364905.1(LRBA):c.3691A>G (p.Ser1231Gly)	LRBA (S1231G)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 713203	NM_001364905.1(LRBA):c.3684T>C (p.Cys1228=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GBenign
Select item 282001	NM_001364905.1(LRBA):c.3568A>G (p.Met1190Val)	LRBA (M1190V)	Single nucleotide variant (missense variant)	LRBA-related disorder +2 more	GBenign
Select item 1157306	NM_001364905.1(LRBA):c.3531T>C (p.Ser1177=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GLikely benign
Select item 1102340	NM_001364905.1(LRBA):c.3414A>G (p.Ala1138=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GLikely benign
Select item 1088426	NM_001364905.1(LRBA):c.3392A>G (p.Asp1131Gly)	LRBA (D1131G)	Single nucleotide variant (missense variant)	LRBA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 724830	NM_001364905.1(LRBA):c.3012A>G (p.Ala1004=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely benign
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 594578	NM_001364905.1(LRBA):c.2637G>A (p.Lys879=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +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)	not specified +3 more	GBenign/Likely benign
Select item 733686	NM_001364905.1(LRBA):c.2472C>T (p.Thr824=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GBenign/Likely benign
Select item 540416	NM_001364905.1(LRBA):c.2469G>A (p.Ala823=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 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 1132224	NM_001364905.1(LRBA):c.2361G>C (p.Leu787=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GLikely benign
Select item 289382	NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2637021	NM_001364905.1(LRBA):c.2149C>T (p.Gln717Ter)	LRBA (Q717*)	Single nucleotide variant (nonsense)	LRBA-related disorder	GLikely pathogenic
Select item 540417	NM_001364905.1(LRBA):c.2064T>C (p.His688=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GLikely benign
Select item 2418045	NM_001364905.1(LRBA):c.1938T>C (p.Pro646=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely benign
Select item 284747	NM_001364905.1(LRBA):c.1713C>T (p.His571=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 540404	NM_001364905.1(LRBA):c.1689C>A (p.Pro563=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder +1 more	GBenign
Select item 758352	NM_001364905.1(LRBA):c.1071C>T (p.Phe357=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GLikely benign
Select item 664474	NM_001364905.1(LRBA):c.894+6T>C	LRBA	Single nucleotide variant (intron variant)	LRBA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3054635	NM_001364905.1(LRBA):c.843A>G (p.Ser281=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder	GLikely benign
Select item 2630492	NM_001364905.1(LRBA):c.386C>G (p.Thr129Ser)	LRBA (T129S)	Single nucleotide variant (missense variant)	LRBA-related disorder	GUncertain significance
Select item 625973	NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)	LRBA (I65T)	Single nucleotide variant (missense variant)	LRBA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3048744	NM_001364905.1(LRBA):c.87A>G (p.Glu29=)	LRBA	Single nucleotide variant (synonymous variant)	LRBA-related disorder	GLikely benign

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Items: 52