ClinVar for Gene (Select 79896) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325911	NM_024838.5(THNSL1):c.2023A>G (p.Ile675Val)	ENKUR, THNSL1 (I675V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325910	NM_024838.5(THNSL1):c.997C>T (p.Leu333Phe)	ENKUR, THNSL1 (L333F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325909	NM_024838.5(THNSL1):c.1184A>G (p.Lys395Arg)	ENKUR, THNSL1 (K395R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325908	NM_024838.5(THNSL1):c.1598C>G (p.Ala533Gly)	ENKUR, THNSL1 (A533G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275437	NM_145010.4(ENKUR):c.230A>G (p.Asn77Ser)	ENKUR, THNSL1 (N77S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275436	NM_145010.4(ENKUR):c.718G>A (p.Asp240Asn)	ENKUR, THNSL1 (D178N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275435	NM_145010.4(ENKUR):c.676C>T (p.Arg226Cys)	ENKUR, THNSL1 (R226C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177070	NM_024838.5(THNSL1):c.74C>T (p.Thr25Met)	ENKUR, THNSL1 (T25M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177069	NM_024838.5(THNSL1):c.556C>A (p.Leu186Ile)	ENKUR, THNSL1 (L186I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177068	NM_024838.5(THNSL1):c.2185G>A (p.Val729Ile)	ENKUR, THNSL1 (V729I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177067	NM_024838.5(THNSL1):c.2054A>G (p.Asn685Ser)	ENKUR, THNSL1 (N685S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177066	NM_024838.5(THNSL1):c.1895A>G (p.Tyr632Cys)	ENKUR, THNSL1 (Y632C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177065	NM_024838.5(THNSL1):c.1814C>G (p.Ala605Gly)	ENKUR, THNSL1 (A605G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177064	NM_024838.5(THNSL1):c.1685C>T (p.Pro562Leu)	ENKUR, THNSL1 (P562L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177063	NM_024838.5(THNSL1):c.1456G>A (p.Ala486Thr)	ENKUR, THNSL1 (A486T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177062	NM_024838.5(THNSL1):c.1400C>T (p.Ser467Leu)	ENKUR, THNSL1 (S467L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177061	NM_024838.5(THNSL1):c.1205C>T (p.Ala402Val)	ENKUR, THNSL1 (A402V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177060	NM_024838.5(THNSL1):c.1190A>G (p.Asp397Gly)	ENKUR, THNSL1 (D397G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177059	NM_024838.5(THNSL1):c.1157T>C (p.Val386Ala)	ENKUR, THNSL1 (V386A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177058	NM_024838.5(THNSL1):c.1052A>C (p.Lys351Thr)	ENKUR, THNSL1 (K351T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088894	NM_145010.4(ENKUR):c.622C>T (p.His208Tyr)	ENKUR, THNSL1 (H208Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088893	NM_145010.4(ENKUR):c.482G>A (p.Arg161Gln)	ENKUR, THNSL1 (R161Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088892	NM_145010.4(ENKUR):c.368C>T (p.Pro123Leu)	ENKUR, THNSL1 (P123L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088891	NM_145010.4(ENKUR):c.244G>A (p.Val82Met)	ENKUR, THNSL1 (V20M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088890	NM_145010.4(ENKUR):c.178A>G (p.Lys60Glu)	ENKUR, THNSL1 (K60E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684600	GRCh37/hg19 10p12.2-12.1(chr10:24560328-25536166)x3	ARHGAP21, ENKUR +4 more	Copy number gain	not provided	GUncertain significance
Select item 2640359	NM_024838.5(THNSL1):c.201G>A (p.Gly67=)	ENKUR, THNSL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640358	NM_145010.4(ENKUR):c.83T>A (p.Ile28Lys)	ENKUR, THNSL1 (I28K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2640357	NM_145010.4(ENKUR):c.685A>G (p.Arg229Gly)	ENKUR, THNSL1 (R167G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2623120	NM_024838.5(THNSL1):c.107C>T (p.Thr36Ile)	ENKUR, THNSL1 (T36I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593039	NM_024838.5(THNSL1):c.832G>A (p.Gly278Arg)	ENKUR, THNSL1 (G278R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591642	NM_024838.5(THNSL1):c.1882A>G (p.Ile628Val)	ENKUR, THNSL1 (I628V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2545279	NM_024838.5(THNSL1):c.385A>C (p.Ile129Leu)	ENKUR, THNSL1 (I129L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530540	NM_024838.5(THNSL1):c.810G>C (p.Lys270Asn)	ENKUR, THNSL1 (K270N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528318	NM_024838.5(THNSL1):c.766A>G (p.Ile256Val)	ENKUR, THNSL1 (I256V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524004	NM_145010.4(ENKUR):c.520C>G (p.Arg174Gly)	ENKUR, THNSL1 (R174G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513363	NM_024838.5(THNSL1):c.683C>T (p.Ser228Leu)	ENKUR, THNSL1 (S228L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492463	NM_024838.5(THNSL1):c.634G>A (p.Val212Ile)	ENKUR, THNSL1 (V212I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481371	NM_145010.4(ENKUR):c.419G>A (p.Gly140Glu)	ENKUR, THNSL1 (G140E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2478658	NM_024838.5(THNSL1):c.1774A>G (p.Asn592Asp)	ENKUR, THNSL1 (N592D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476139	NM_145010.4(ENKUR):c.489G>T (p.Glu163Asp)	ENKUR, THNSL1 (E101D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466016	NM_024838.5(THNSL1):c.1465G>C (p.Asp489His)	ENKUR, THNSL1 (D489H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409165	NM_024838.5(THNSL1):c.434T>C (p.Leu145Pro)	ENKUR, THNSL1 (L145P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403236	NM_024838.5(THNSL1):c.1652T>C (p.Leu551Pro)	ENKUR, THNSL1 (L551P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389974	NM_024838.5(THNSL1):c.1174C>T (p.Arg392Cys)	ENKUR, THNSL1 (R392C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388580	NM_024838.5(THNSL1):c.1891A>G (p.Thr631Ala)	ENKUR, THNSL1 (T631A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383689	NM_145010.4(ENKUR):c.568G>A (p.Asp190Asn)	ENKUR, THNSL1 (D128N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380897	NM_145010.4(ENKUR):c.44C>G (p.Pro15Arg)	ENKUR, THNSL1 (P15R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362064	NM_024838.5(THNSL1):c.2142G>T (p.Gln714His)	ENKUR, THNSL1 (Q714H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336449	NM_024838.5(THNSL1):c.1448A>G (p.His483Arg)	ENKUR, THNSL1 (H483R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334188	NM_024838.5(THNSL1):c.1621A>T (p.Thr541Ser)	ENKUR, THNSL1 (T541S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329547	NM_145010.4(ENKUR):c.391G>A (p.Gly131Arg)	ENKUR, THNSL1 (G69R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319640	NM_024838.5(THNSL1):c.1012T>C (p.Phe338Leu)	ENKUR, THNSL1 (F338L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315603	NM_024838.5(THNSL1):c.1738G>A (p.Ala580Thr)	ENKUR, THNSL1 (A580T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297269	NM_145010.4(ENKUR):c.110A>G (p.Asp37Gly)	ENKUR, THNSL1 (D37G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287887	NM_024838.5(THNSL1):c.544A>G (p.Met182Val)	ENKUR, THNSL1 (M182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284896	NM_024838.5(THNSL1):c.527A>G (p.Gln176Arg)	ENKUR, THNSL1 (Q176R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273083	NM_024838.5(THNSL1):c.1731C>A (p.His577Gln)	ENKUR, THNSL1 (H577Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262228	NM_024838.5(THNSL1):c.145A>G (p.Thr49Ala)	ENKUR, THNSL1 (T49A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253378	NM_145010.4(ENKUR):c.114C>G (p.Asp38Glu)	ENKUR, THNSL1 (D38E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249216	NM_024838.5(THNSL1):c.1188T>A (p.Asn396Lys)	ENKUR, THNSL1 (N396K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245244	NM_024838.5(THNSL1):c.1135T>G (p.Ser379Ala)	ENKUR, THNSL1 (S379A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239867	NM_024838.5(THNSL1):c.491G>A (p.Arg164His)	ENKUR, THNSL1 (R164H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237928	NM_024838.5(THNSL1):c.871A>G (p.Arg291Gly)	ENKUR, THNSL1 (R291G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223459	NM_024838.5(THNSL1):c.1593C>G (p.Ile531Met)	ENKUR, THNSL1 (I531M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220656	NM_024838.5(THNSL1):c.1724A>G (p.His575Arg)	ENKUR, THNSL1 (H575R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213732	NM_145010.4(ENKUR):c.263T>G (p.Val88Gly)	ENKUR, THNSL1 (V26G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 800559	NM_145010.4(ENKUR):c.224-1del	ENKUR, THNSL1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 758211	NM_145010.4(ENKUR):c.448-8C>A	ENKUR, THNSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 443842	GRCh37/hg19 10p12.1(chr10:24628319-26747630)x1	APBB1IP, ARHGAP21 +7 more	Copy number loss	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
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
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 144415	GRCh38/hg38 10p12.2-12.1(chr10:24111341-25350640)x1	GPR158-AS1, KIAA1217 +35 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 82