C3553512[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 540389	NM_001364905.1(LRBA):c.7637A>G (p.Gln2546Arg)	LRBA (Q2557R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 579451	NM_001364905.1(LRBA):c.5942G>A (p.Arg1981His)	LRBA (R1981H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 934488	NM_001364905.1(LRBA):c.5941C>T (p.Arg1981Cys)	LRBA (R1981C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 473179	NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala)	LRBA (V1695A)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 640287	NM_001364905.1(LRBA):c.4947T>A (p.Asn1649Lys)	LRBA (N1649K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 933334	NM_001364905.1(LRBA):c.4513A>G (p.Arg1505Gly)	LRBA (R1505G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1106597	NM_001364905.1(LRBA):c.4339+18G>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 618199	NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala)	LRBA (T1251A)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
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 743723	NM_001364905.1(LRBA):c.2275A>C (p.Met759Leu)	LRBA (M759L)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GBenign/Likely benign
Select item 283042	NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile)	LRBA (V737I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1558030	NM_001364905.1(LRBA):c.2067+11A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GBenign/Likely benign
Select item 968938	NM_001364905.1(LRBA):c.1923_1924+11del	LRBA	Deletion (splice donor variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 960632	NM_001364905.1(LRBA):c.637A>G (p.Ser213Gly)	LRBA (S213G)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance