TSACC[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 3264671	NM_005998.5(CCT3):c.10C>T (p.His4Tyr)	CCT3, TSACC (H4Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329377	NM_001304817.2(TSACC):c.7C>T (p.Arg3Trp)	TSACC (R3W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336688	NM_001304817.2(TSACC):c.32A>G (p.Lys11Arg)	TSACC (K29R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271604	NM_001304817.2(TSACC):c.44A>C (p.Lys15Thr)	TSACC (K33T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270240	NM_001304817.2(TSACC):c.47A>T (p.Glu16Val)	TSACC (E16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378190	NM_001304817.2(TSACC):c.85T>G (p.Ser29Ala)	TSACC (S29A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183554	NM_001304817.2(TSACC):c.131T>G (p.Phe44Cys)	TSACC (F44C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329379	NM_001304817.2(TSACC):c.164T>C (p.Val55Ala)	TSACC (V73A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329380	NM_001304817.2(TSACC):c.172A>G (p.Lys58Glu)	TSACC (K76E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329378	NM_001304817.2(TSACC):c.250A>C (p.Met84Leu)	TSACC (D80A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767710	NM_001304817.2(TSACC):c.284C>T (p.Thr95Ile)	TSACC (T95I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	CRABP2, DAP3 +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	BGLAP, BNIPL +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 685546	GRCh37/hg19 1q22(chr1:156037369-156463980)x3	BGLAP, CCT3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 33