"Genetic Services Laboratory, University of Chicago"[submitter] AND "L - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282955	NM_001364905.1(LRBA):c.*9G>T	LRBA	Single nucleotide variant (3 prime UTR variant)	not specified	GConflicting classifications of pathogenicity
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 724342	NM_001364905.1(LRBA):c.8517C>T (p.Asn2839=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely benign
Select item 1337222	NM_001364905.1(LRBA):c.8163G>T (p.Arg2721Ser)	LRBA (R2720S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 849670	NM_001364905.1(LRBA):c.7690A>G (p.Ile2564Val)	LRBA (I2575V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 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 999270	NM_001364905.1(LRBA):c.7177G>A (p.Val2393Ile)	LRBA (V2393I +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 658306	NM_001364905.1(LRBA):c.7021C>T (p.Arg2341Cys)	LRBA (R2352C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1337560	NM_001364905.1(LRBA):c.5227A>G (p.Ser1743Gly)	LRBA (S1743G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 473180	NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign
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 435784	NM_001364905.1(LRBA):c.4919T>C (p.Val1640Ala)	LRBA (V1640A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 473175	NM_001364905.1(LRBA):c.3874G>A (p.Val1292Ile)	LRBA (V1292I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign
Select item 439870	NM_001364905.1(LRBA):c.3826-5A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign/Likely benign
Select item 502304	NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=)	LRBA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 473174	NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp)	LRBA (G1230D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 287734	NM_001364905.1(LRBA):c.3407C>T (p.Pro1136Leu)	LRBA (P1136L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 439871	NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val)	LRBA (G1117V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GConflicting classifications of pathogenicity
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 435785	NM_001364905.1(LRBA):c.2811G>A (p.Arg937=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 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 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 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 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 540402	NM_001364905.1(LRBA):c.1513A>G (p.Ile505Val)	LRBA (I505V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 522233	NM_001364905.1(LRBA):c.1015-10del	LRBA	Deletion (intron variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign
Select item 1338654	NM_001364905.1(LRBA):c.459del (p.Asp154fs)	LRBA (D154fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1165254	NM_001364905.1(LRBA):c.217-10del	LRBA	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1337366	NM_001364905.1(LRBA):c.84T>C (p.Thr28=)	LRBA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign

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Items: 34