TOP1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 708476	NM_003286.4(TOP1):c.144G>A (p.Lys48=)	TOP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777300	NM_003286.4(TOP1):c.241C>T (p.His81Tyr)	TOP1 (H81Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2314035	NM_003286.4(TOP1):c.284G>A (p.Arg95Gln)	TOP1 (R95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328040	NM_003286.4(TOP1):c.482A>G (p.Lys161Arg)	TOP1 (K161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717596	NM_003286.4(TOP1):c.528C>T (p.Pro176=)	TOP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2235813	NM_003286.4(TOP1):c.532A>C (p.Asn178His)	TOP1 (N178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035753	NM_003286.4(TOP1):c.585G>A (p.Pro195=)	TOP1	Single nucleotide variant (synonymous variant)	TOP1-related disorder	GLikely benign
Select item 713745	NM_003286.4(TOP1):c.594A>G (p.Glu198=)	TOP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2602401	NM_003286.4(TOP1):c.735A>C (p.Lys245Asn)	TOP1 (K245N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328041	NM_003286.4(TOP1):c.957G>A (p.Met319Ile)	PLCG1-AS1, TOP1 (M319I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 783862	NM_003286.4(TOP1):c.1047G>A (p.Arg349=)	PLCG1-AS1, TOP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 799492	NM_003286.4(TOP1):c.1101C>T (p.His367=)	PLCG1-AS1, TOP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3328042	NM_003286.4(TOP1):c.1181C>T (p.Ser394Phe)	PLCG1-AS1, TOP1 (S394F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 996729	NM_003286.4(TOP1):c.1217A>T (p.His406Leu)	PLCG1-AS1, TOP1 (H406L)	Single nucleotide variant (non-coding transcript variant +1 more)	Autism spectrum disorder	Gassociation
Select item 16774	NM_003286.4(TOP1):c.1252G>A (p.Glu418Lys)	PLCG1-AS1, TOP1 (E418K)	Single nucleotide variant (missense variant)	DNA topoisomerase I, camptothecin-resistant	GPathogenic
Select item 3046725	NM_003286.4(TOP1):c.1446C>T (p.Ile482=)	PLCG1-AS1, TOP1	Single nucleotide variant (synonymous variant)	TOP1-related disorder	GLikely benign
Select item 3181157	NM_003286.4(TOP1):c.1543C>T (p.His515Tyr)	PLCG1-AS1, TOP1 (H515Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242774	NM_003286.4(TOP1):c.1598A>G (p.Asp533Gly)	PLCG1-AS1, TOP1 (D533G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242703	NM_003286.4(TOP1):c.1748= (p.Gly583=)	PLCG1-AS1, TOP1	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 16773	NM_003286.2(TOP1):c.[1598A>G;1748G=]	PLCG1-AS1, TOP1 (D533G)	Single nucleotide variant (no sequence alteration +1 more)	DNA topoisomerase I, camptothecin-resistant	GPathogenic
Select item 3039907	NM_003286.4(TOP1):c.1875T>C (p.Ala625=)	PLCG1-AS1, TOP1	Single nucleotide variant (synonymous variant)	TOP1-related disorder	GLikely benign
Select item 3181158	NM_003286.4(TOP1):c.1882A>G (p.Ile628Val)	PLCG1-AS1, TOP1 (I628V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749280	NM_003286.4(TOP1):c.2040G>A (p.Thr680=)	PLCG1-AS1, TOP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2281169	NM_003286.4(TOP1):c.2078G>A (p.Arg693Lys)	PLCG1-AS1, TOP1 (R693K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264205	NM_003286.4(TOP1):c.2083G>C (p.Glu695Gln)	PLCG1-AS1, TOP1 (E695Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 30