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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 489321	NM_005802.5(TOPORS):c.2995A>T (p.Arg999Ter)	TOPORS (R999* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 143130	NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)	TOPORS (E787fs +1 more)	Microsatellite (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 224754	NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter)	TOPORS (R847* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 95313	NM_005802.5(TOPORS):c.2319T>C (p.Ser773=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 449617	NM_005802.5(TOPORS):c.605G>C (p.Arg202Thr)	TOPORS (R202T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450158	NM_005802.5(TOPORS):c.74C>T (p.Ser25Leu)	TOPORS (S25L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 981063	NM_005802.5(TOPORS):c.29C>A (p.Pro10Gln)	TOPORS (P10Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 432596	NM_005802.5(TOPORS):c.17C>T (p.Pro6Leu)	TOPORS (P6L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACO1, ADAMTSL1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic