"GeneDx"[submitter] AND "IRF4"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 1272812	NM_002460.4(IRF4):c.-55-315G>A	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278447	NM_002460.4(IRF4):c.-55-232A>G	IRF4, LOC129995568	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169632	NM_002460.4(IRF4):c.207G>C (p.Ala69=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1250095	NM_002460.4(IRF4):c.217-178C>T	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266692	NM_002460.4(IRF4):c.217-110T>A	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290339	NM_002460.4(IRF4):c.403+240dup	IRF4	Duplication (intron variant)	not provided	GBenign
Select item 1182909	NM_002460.4(IRF4):c.404-213T>C	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270615	NM_002460.4(IRF4):c.492+186G>C	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169060	NM_002460.4(IRF4):c.637+9G>A	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170408	NM_002460.4(IRF4):c.637+17T>G	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273692	NM_002460.4(IRF4):c.637+38T>C	IRF4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1266066	NM_002460.4(IRF4):c.637+226T>C	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272529	NM_002460.4(IRF4):c.637+233A>G	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273865	NM_002460.4(IRF4):c.638-53G>A	IRF4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1268521	NM_002460.4(IRF4):c.745+144T>A	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276222	NM_002460.4(IRF4):c.745+283T>C	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263574	NM_002460.4(IRF4):c.1099+310T>C	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165341	NM_002460.4(IRF4):c.1212+16C>G	IRF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1178747	NM_002460.4(IRF4):c.1212+322T>A	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285812	NM_002460.4(IRF4):c.1212+327T>C	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273389	NM_002460.4(IRF4):c.*58G>A	IRF4	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1289318	NM_002460.4(IRF4):c.*284T>C	IRF4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253658	GRCh37/hg19 6p25.3(chr6:180959-2180143)x1	IRF4, GMDS +6 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic

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Items: 27