C5676890[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 533066	NM_002838.5(PTPRC):c.985G>A (p.Glu329Lys)	PTPRC (E329K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GUncertain significance
Select item 1032851	NM_002838.5(PTPRC):c.1084G>A (p.Glu362Lys)	PTPRC (E362K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GUncertain significance
Select item 626155	NM_002838.5(PTPRC):c.2142+7A>G	PTPRC	Single nucleotide variant (intron variant)	PTPRC-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1032852	NM_002838.5(PTPRC):c.2885T>C (p.Ile962Thr)	PTPRC (I801T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GUncertain significance
Select item 190992	NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)	PTPRC (L1182S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 105 +4 more	GConflicting classifications of pathogenicity
Select item 1029484	NM_002838.5(PTPRC):c.3832G>C (p.Ala1278Pro)	PTPRC (A1278P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GUncertain significance
Select item 377977	NM_002185.5(IL7R):c.339A>C (p.Glu113Asp)	IL7R (E113D)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 224841	NM_002185.5(IL7R):c.361dup (p.Ile121fs)	IL7R (I121fs)	Duplication (non-coding transcript variant +1 more)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 496620	NM_000536.4(RAG2):c.218G>A (p.Arg73His)	RAG2 (R73H)	Single nucleotide variant (missense variant)	Immunodeficiency 104 +6 more	GConflicting classifications of pathogenicity