"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 318798	NM_001770.6(CD19):c.381G>A (p.Ser127=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 318800	NM_001770.6(CD19):c.390T>A (p.Gly130=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318801	NM_001770.6(CD19):c.395T>G (p.Leu132Arg)	CD19 (L132R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318803	NM_001770.6(CD19):c.520C>G (p.Leu174Val)	CD19 (L174V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 618002	NM_001770.6(CD19):c.962G>A (p.Arg321Lys)	CD19 (R321K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 439464	NM_001770.6(CD19):c.1133A>C (p.Tyr378Ser)	CD19 (Y378S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 811565	NM_001770.6(CD19):c.1198+2T>G	CD19	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 3	GLikely pathogenic
Select item 439463	NM_001770.6(CD19):c.1303+1G>C	CD19	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 993807	NM_001770.6(CD19):c.1486+18T>A	CD19	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 3 +1 more	GBenign
Select item 318811	NM_001770.6(CD19):c.1541G>A (p.Arg514His)	CD19 (R514H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign