TSKS[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 147632	GRCh38/hg38 19q13.33(chr19:49623273-49747363)x3	ADM5, BCL2L12 +17 more	Copy number gain	See cases	GBenign
Select item 1801817	NM_021733.2(TSKS):c.1731C>A (p.Ser577Arg)	TSKS (S577R)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2536016	NM_021733.2(TSKS):c.1724G>A (p.Gly575Glu)	TSKS (G575E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564294	NM_021733.2(TSKS):c.1709C>T (p.Thr570Met)	TSKS (T570M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329608	NM_021733.2(TSKS):c.1634C>A (p.Ala545Asp)	TSKS (A545D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491082	NM_021733.2(TSKS):c.1624G>A (p.Glu542Lys)	TSKS (E542K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518369	NM_021733.2(TSKS):c.1583G>A (p.Arg528Gln)	TSKS (R528Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332483	NM_021733.2(TSKS):c.1483C>T (p.His495Tyr)	TSKS (H495Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183731	NM_021733.2(TSKS):c.1446G>C (p.Arg482Ser)	TSKS (R482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550727	NM_021733.2(TSKS):c.1409G>A (p.Arg470Gln)	TSKS (R470Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241096	NM_021733.2(TSKS):c.1357G>A (p.Ala453Thr)	TSKS (A453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183730	NM_021733.2(TSKS):c.1327C>T (p.Arg443Trp)	TSKS (R443W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510995	NM_021733.2(TSKS):c.1325A>G (p.Asp442Gly)	TSKS (D442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329610	NM_021733.2(TSKS):c.1316T>C (p.Met439Thr)	TSKS (M439T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539177	NM_021733.2(TSKS):c.1126C>G (p.Gln376Glu)	TSKS (Q376E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183727	NM_021733.2(TSKS):c.1076G>A (p.Gly359Asp)	TSKS (G359D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540559	NM_021733.2(TSKS):c.1000G>T (p.Val334Leu)	TSKS (V334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390579	NM_021733.2(TSKS):c.948C>A (p.Ser316Arg)	TSKS (S316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544583	NM_021733.2(TSKS):c.889G>A (p.Gly297Ser)	TSKS (G297S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516448	NM_021733.2(TSKS):c.853C>T (p.Pro285Ser)	TSKS (P285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515628	NM_021733.2(TSKS):c.806C>G (p.Ser269Cys)	TSKS (S269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329609	NM_021733.2(TSKS):c.790C>T (p.Pro264Ser)	TSKS (P264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183742	NM_021733.2(TSKS):c.787A>G (p.Lys263Glu)	TSKS (K263E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183741	NM_021733.2(TSKS):c.757G>A (p.Glu253Lys)	TSKS (E253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183740	NM_021733.2(TSKS):c.750G>C (p.Gln250His)	TSKS (Q250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183739	NM_021733.2(TSKS):c.733G>A (p.Glu245Lys)	TSKS (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542642	NM_021733.2(TSKS):c.707C>T (p.Pro236Leu)	TSKS (P236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606097	NM_021733.2(TSKS):c.679C>T (p.Leu227Phe)	TSKS (L227F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183738	NM_021733.2(TSKS):c.661G>C (p.Glu221Gln)	TSKS (E221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183736	NM_021733.2(TSKS):c.633C>G (p.Asn211Lys)	TSKS (N211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270597	NM_021733.2(TSKS):c.619G>A (p.Glu207Lys)	TSKS (E207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183735	NM_021733.2(TSKS):c.535C>T (p.Arg179Trp)	TSKS (R179W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183734	NM_021733.2(TSKS):c.481G>A (p.Val161Met)	TSKS (V161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183733	NM_021733.2(TSKS):c.466C>T (p.Arg156Trp)	TSKS (R156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382808	NM_021733.2(TSKS):c.458A>G (p.Lys153Arg)	TSKS (K153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183732	NM_021733.2(TSKS):c.398T>A (p.Leu133Gln)	TSKS (L133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325572	NM_021733.2(TSKS):c.385A>G (p.Ile129Val)	TSKS (I129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353413	NM_021733.2(TSKS):c.265G>A (p.Ala89Thr)	TSKS (A89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217352	NM_021733.2(TSKS):c.243C>A (p.Asn81Lys)	TSKS (N81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222714	NM_021733.2(TSKS):c.230C>T (p.Ser77Leu)	TSKS (S77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287522	NM_021733.2(TSKS):c.161C>T (p.Ser54Leu)	TSKS (S54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183729	NM_021733.2(TSKS):c.125G>A (p.Arg42Gln)	TSKS (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183728	NM_021733.2(TSKS):c.124C>G (p.Arg42Gly)	TSKS (R42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397311	NM_021733.2(TSKS):c.124C>T (p.Arg42Trp)	TSKS (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496159	NM_021733.2(TSKS):c.80G>A (p.Ser27Asn)	TSKS (S27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361493	NM_021733.2(TSKS):c.68C>T (p.Thr23Met)	TSKS (T23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350467	NM_021733.2(TSKS):c.55G>A (p.Gly19Arg)	TSKS (G19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621732	NM_021733.2(TSKS):c.16G>A (p.Val6Met)	TSKS (V6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 61