"GeneDx"[submitter] AND "TFRC"[gene] - ClinVar

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Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 59687	GRCh38/hg38 3q29(chr3:195917073-196336765)x3	DYNLT2B, LINC00885 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59688	GRCh38/hg38 3q29(chr3:196035777-196189197)x3	LINC00885, LOC115995537 +15 more	Copy number gain	See cases	GUncertain significance
Select item 1282201	NM_001128148.3(TFRC):c.2041-100G>A	TFRC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1289074	NM_001128148.3(TFRC):c.2041-111_2041-109del	TFRC	Deletion (intron variant)	not provided	GBenign
Select item 1241215	NM_001128148.3(TFRC):c.2041-109del	TFRC	Deletion (intron variant)	not provided	GBenign
Select item 1230076	NM_001128148.3(TFRC):c.2041-113_2041-109del	TFRC	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1272893	NM_001128148.3(TFRC):c.2040+290dup	TFRC	Duplication (intron variant)	not provided	GBenign
Select item 1224841	NM_001128148.3(TFRC):c.1900-248G>A	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280483	NM_001128148.3(TFRC):c.1900-280C>T	TFRC	Single nucleotide variant (intron variant)	not provided	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 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 1236742	NM_001128148.3(TFRC):c.1677+158C>T	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248055	NM_001128148.3(TFRC):c.1596-92G>A	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254001	NM_001128148.3(TFRC):c.1469-188A>G	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280043	NM_001128148.3(TFRC):c.1469-190G>C	TFRC	Single nucleotide variant (intron variant)	not provided	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 1263942	NM_001128148.3(TFRC):c.1319-105T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225440	NM_001128148.3(TFRC):c.1319-212T>A	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274924	NM_001128148.3(TFRC):c.1199-207T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250833	NM_001128148.3(TFRC):c.1199-318G>A	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226676	NM_001128148.3(TFRC):c.1198+180del	TFRC	Deletion (intron variant)	not provided	GBenign
Select item 1259801	NM_001128148.3(TFRC):c.1198+166del	TFRC	Deletion (intron variant)	not provided	GBenign
Select item 1269913	NM_001128148.3(TFRC):c.1198+23_1198+25del	TFRC	Deletion (intron variant)	not provided	GBenign
Select item 1261652	NM_001128148.3(TFRC):c.1198+22_1198+25del	TFRC	Deletion (intron variant)	not provided	GBenign
Select item 1268142	NM_001128148.3(TFRC):c.1040+148T>A	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252312	NM_001128148.3(TFRC):c.801+277C>A	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278770	NM_001128148.3(TFRC):c.687+320C>G	TFRC	Single nucleotide variant (intron variant)	not provided	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 1252364	NM_001128148.3(TFRC):c.585-153G>A	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221755	NM_001128148.3(TFRC):c.585-231A>G	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178062	NM_001128148.3(TFRC):c.434+254G>A	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264166	NM_001128148.3(TFRC):c.434+198G>T	TFRC	Single nucleotide variant (intron variant)	not provided	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 1272037	NM_001128148.3(TFRC):c.238+280del	TFRC	Deletion (intron variant)	not provided	GBenign
Select item 1275445	NM_001128148.3(TFRC):c.238+93dup	TFRC	Duplication (intron variant)	not provided	GBenign
Select item 1286329	NM_001128148.3(TFRC):c.238+92A>T	TFRC	Single nucleotide variant (intron variant)	not provided	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
Select item 1229194	NM_001128148.3(TFRC):c.-23-305T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253577	GRCh37/hg19 3q29(chr3:195690241-197299811)x1	NRROS, SENP5 +19 more	Copy number loss	See cases	GPathogenic

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Items: 48