"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1282201	NM_001128148.3(TFRC):c.2041-100G>A	TFRC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230076	NM_001128148.3(TFRC):c.2041-113_2041-109del	TFRC	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1237075	NM_001128148.3(TFRC):c.1678-4G>A	TFRC	Single nucleotide variant (intron variant)	TFRC-related combined immunodeficiency +2 more	GBenign
Select item 1135661	NM_001128148.3(TFRC):c.1678-5_1678-4inv	TFRC	Inversion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1230584	NM_001128148.3(TFRC):c.1678-5T>C	TFRC	Single nucleotide variant (intron variant)	TFRC-related combined immunodeficiency +2 more	GBenign
Select item 1166955	NM_001128148.3(TFRC):c.1678-12G>A	TFRC	Single nucleotide variant (intron variant)	TFRC-related combined immunodeficiency +2 more	GBenign
Select item 2628290	NM_001128148.3(TFRC):c.1468+84T>C	TFRC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1268321	NM_001128148.3(TFRC):c.1468+77G>A	TFRC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1273355	NM_001128148.3(TFRC):c.1468+39A>G	TFRC	Single nucleotide variant (intron variant)	TFRC-related combined immunodeficiency +2 more	GBenign
Select item 1238317	NM_001128148.3(TFRC):c.1468+25G>T	TFRC	Single nucleotide variant (intron variant)	TFRC-related combined immunodeficiency +2 more	GBenign
Select item 1168227	NM_001128148.3(TFRC):c.1404+17C>A	TFRC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1164901	NM_001128148.3(TFRC):c.687+9A>G	TFRC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1164902	NM_001128148.3(TFRC):c.424G>A (p.Gly142Ser)	TFRC (G142S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1287037	NM_001128148.3(TFRC):c.239-29A>T	TFRC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1243070	NM_001128148.3(TFRC):c.37-135T>C	TFRC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1287653	NM_001128148.3(TFRC):c.-23-28C>T	TFRC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign