"GeneDx"[submitter] AND "IQCE"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 151093	GRCh38/hg38 7p22.3(chr7:2469943-2566182)x3	BRAT1, GRIFIN +13 more	Copy number gain	See cases	GUncertain significance
Select item 871385	NM_152558.5(IQCE):c.572_579+1del	IQCE	Deletion (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 3342736	NM_152558.5(IQCE):c.825-8T>G	IQCE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 522174	NM_152558.5(IQCE):c.1333C>T (p.Arg445Ter)	IQCE (R445* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3368250	NM_152558.5(IQCE):c.1613A>G (p.Lys538Arg)	IQCE (K473R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262902	NM_152558.5(IQCE):c.1969+89T>G	IQCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3342735	NM_152558.5(IQCE):c.2042del (p.Asp681fs)	IQCE (D616fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 253802	GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4	CYP2W1, PSMG3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3359828	NM_152558.5(IQCE):c.900_909del (p.Val301fs)	IQCE (V236fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance