"PreventionGenetics, part of Exact Sciences"[submitter] AND "TOPORS"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366559	NM_005802.5(TOPORS):c.2988C>T (p.Leu996=)	TOPORS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 31 +4 more	GBenign/Likely benign
Select item 1106772	NM_005802.5(TOPORS):c.2892G>A (p.Lys964=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 732694	NM_005802.5(TOPORS):c.2679T>C (p.His893=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 95314	NM_005802.5(TOPORS):c.2547A>G (p.Ser849=)	TOPORS	Single nucleotide variant (synonymous variant)	TOPORS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1656	NM_005802.5(TOPORS):c.2474dup (p.Tyr825Ter)	TOPORS (Y760* +1 more)	Duplication (nonsense)	TOPORS-related disorder +1 more	GPathogenic
Select item 366566	NM_005802.5(TOPORS):c.2314C>T (p.Leu772=)	TOPORS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 497679	NM_005802.5(TOPORS):c.2115T>C (p.Thr705=)	TOPORS	Single nucleotide variant (synonymous variant)	TOPORS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 497288	NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr)	TOPORS (S577Y +1 more)	Single nucleotide variant (missense variant)	TOPORS-related disorder +3 more	GBenign/Likely benign
Select item 1093743	NM_005802.5(TOPORS):c.1720C>G (p.Leu574Val)	TOPORS (L509V +1 more)	Single nucleotide variant (missense variant)	TOPORS-related disorder +1 more	GLikely benign
Select item 1924960	NM_005802.5(TOPORS):c.1702T>C (p.Leu568=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 366571	NM_005802.5(TOPORS):c.1238A>C (p.Gln413Pro)	TOPORS (Q413P +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 1104279	NM_005802.5(TOPORS):c.1158T>C (p.His386=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2630536	NM_005802.5(TOPORS):c.1144G>A (p.Glu382Lys)	TOPORS (E317K +1 more)	Single nucleotide variant (missense variant)	TOPORS-related disorder	GUncertain significance
Select item 196418	NM_005802.5(TOPORS):c.814A>G (p.Ile272Val)	TOPORS (I272V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign