TSPAN15[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 2236604	NM_012339.5(TSPAN15):c.121G>C (p.Val41Leu)	TSPAN15 (V41L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183804	NM_012339.5(TSPAN15):c.139G>A (p.Val47Ile)	TSPAN15 (V47I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595605	NM_012339.5(TSPAN15):c.146G>A (p.Arg49Gln)	TSPAN15 (R49Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570524	NM_012339.5(TSPAN15):c.236T>C (p.Ile79Thr)	TSPAN15 (I79T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183806	NM_012339.5(TSPAN15):c.280G>C (p.Ala94Pro)	TSPAN15 (A94P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487687	NM_012339.5(TSPAN15):c.314T>C (p.Met105Thr)	TSPAN15 (M105T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354254	NM_012339.5(TSPAN15):c.328G>A (p.Gly110Ser)	TSPAN15 (G110S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2212854	NM_012339.5(TSPAN15):c.331G>A (p.Val111Met)	TSPAN15 (V111M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313020	NM_012339.5(TSPAN15):c.367T>C (p.Phe123Leu)	TSPAN15 (F36L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317375	NM_012339.5(TSPAN15):c.469G>A (p.Gly157Arg)	TSPAN15 (G70R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275453	NM_012339.5(TSPAN15):c.508G>A (p.Asp170Asn)	TSPAN15 (D83N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488490	NM_012339.5(TSPAN15):c.647T>A (p.Val216Glu)	TSPAN15 (V216E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321514	NM_012339.5(TSPAN15):c.716T>C (p.Leu239Pro)	TSPAN15 (L152P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183807	NM_012339.5(TSPAN15):c.848C>T (p.Ala283Val)	TSPAN15 (A283V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412091	NM_012339.5(TSPAN15):c.854G>T (p.Gly285Val)	TSPAN15 (G198V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512003	NM_012339.5(TSPAN15):c.857C>T (p.Thr286Met)	TSPAN15 (T286M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294062	NM_012339.5(TSPAN15):c.870G>T (p.Leu290Phe)	TSPAN15 (L290F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 32