"Revvity Omics, Revvity"[submitter] AND "LRBA"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1063720	NM_001364905.1(LRBA):c.4486G>A (p.Gly1496Ser)	LRBA (G1496S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	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 836351	NM_001364905.1(LRBA):c.2504G>A (p.Ser835Asn)	LRBA (S835N)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 842111	NM_001364905.1(LRBA):c.2164C>T (p.Arg722Cys)	LRBA (R722C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 946540	NM_001364905.1(LRBA):c.1879G>A (p.Ala627Thr)	LRBA (A627T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 935212	NM_001364905.1(LRBA):c.499C>T (p.Arg167Cys)	LRBA (R167C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance