29945[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 2522432	NM_001098816.3(TENM4):c.8263G>A (p.Ala2755Thr)	TENM4 (A2755T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175972	NM_001098816.3(TENM4):c.8258A>G (p.Asp2753Gly)	TENM4 (D2753G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588550	NM_001098816.3(TENM4):c.8236G>A (p.Glu2746Lys)	TENM4 (E2746K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325371	NM_001098816.3(TENM4):c.8215G>A (p.Gly2739Ser)	TENM4 (G2739S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047711	NM_001098816.3(TENM4):c.8211C>T (p.Tyr2737=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 3175971	NM_001098816.3(TENM4):c.8201T>G (p.Val2734Gly)	TENM4 (V2734G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 798041	NM_001098816.3(TENM4):c.8198G>A (p.Arg2733Gln)	TENM4 (R2733Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3357466	NM_001098816.3(TENM4):c.8176C>T (p.Gln2726Ter)	TENM4 (Q2726*)	Single nucleotide variant (nonsense)	TENM4-related disorder	GUncertain significance
Select item 3175969	NM_001098816.3(TENM4):c.8152C>T (p.Arg2718Trp)	TENM4 (R2718W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642203	NM_001098816.3(TENM4):c.8115C>T (p.Arg2705=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175968	NM_001098816.3(TENM4):c.8099G>A (p.Arg2700His)	TENM4 (R2700H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206331	NM_001098816.3(TENM4):c.8065C>T (p.Arg2689Trp)	TENM4 (R2689W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642204	NM_001098816.3(TENM4):c.8030C>T (p.Thr2677Ile)	TENM4 (T2677I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710060	NM_001098816.3(TENM4):c.8011G>A (p.Gly2671Arg)	TENM4 (G2671R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788603	NM_001098816.3(TENM4):c.8010C>T (p.Tyr2670=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3175967	NM_001098816.3(TENM4):c.8002C>T (p.Leu2668Phe)	TENM4 (L2668F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786205	NM_001098816.3(TENM4):c.8000A>G (p.Gln2667Arg)	TENM4 (Q2667R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3175966	NM_001098816.3(TENM4):c.7984C>T (p.Arg2662Cys)	TENM4 (R2662C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2437038	NM_001098816.3(TENM4):c.7939G>A (p.Val2647Ile)	TENM4 (V2647I)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 787383	NM_001098816.3(TENM4):c.7933G>A (p.Val2645Ile)	TENM4 (V2645I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2412257	NM_001098816.3(TENM4):c.7928A>G (p.Asn2643Ser)	TENM4 (N2643S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787384	NM_001098816.3(TENM4):c.7913G>A (p.Arg2638Gln)	TENM4 (R2638Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2682569	NM_001098816.3(TENM4):c.7912C>T (p.Arg2638Trp)	TENM4 (R2638W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485392	NM_001098816.3(TENM4):c.7840G>A (p.Val2614Met)	TENM4 (V2614M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485269	NM_001098816.3(TENM4):c.7840G>T (p.Val2614Leu)	TENM4 (V2614L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642205	NM_001098816.3(TENM4):c.7822C>G (p.His2608Asp)	TENM4 (H2608D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351666	NM_001098816.3(TENM4):c.7816A>T (p.Asn2606Tyr)	TENM4 (N2606Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613204	NM_001098816.3(TENM4):c.7780G>A (p.Val2594Ile)	TENM4 (V2594I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261860	NM_001098816.3(TENM4):c.7763A>G (p.Asn2588Ser)	TENM4 (N2588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787095	NM_001098816.3(TENM4):c.7729G>T (p.Gly2577Cys)	TENM4 (G2577C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2568600	NM_001098816.3(TENM4):c.7714T>C (p.Phe2572Leu)	TENM4 (F2572L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175965	NM_001098816.3(TENM4):c.7704G>C (p.Lys2568Asn)	TENM4 (K2568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057758	NM_001098816.3(TENM4):c.7692A>C (p.Ser2564=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 2642206	NM_001098816.3(TENM4):c.7686C>T (p.Ser2562=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3325344	NM_001098816.3(TENM4):c.7631G>A (p.Gly2544Asp)	TENM4 (G2544D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642207	NM_001098816.3(TENM4):c.7612C>T (p.Arg2538Trp)	TENM4 (R2538W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642208	NM_001098816.3(TENM4):c.7579C>A (p.Gln2527Lys)	TENM4 (Q2527K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2441966	NM_001098816.3(TENM4):c.7557C>G (p.Ile2519Met)	TENM4 (I2519M)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 1239586	NM_001098816.3(TENM4):c.7509C>T (p.Leu2503=)	TENM4	Single nucleotide variant (synonymous variant)	Tremor, hereditary essential, 5 +1 more	GBenign
Select item 2629046	NM_001098816.3(TENM4):c.7504G>A (p.Glu2502Lys)	TENM4 (E2502K)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 3257174	NM_001098816.3(TENM4):c.7503C>T (p.Tyr2501=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1048864	NM_001098816.3(TENM4):c.7474C>A (p.Pro2492Thr)	TENM4 (P2492T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879213	NM_001098816.3(TENM4):c.7463G>A (p.Gly2488Asp)	TENM4 (G2488D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175964	NM_001098816.3(TENM4):c.7404G>A (p.Met2468Ile)	TENM4 (M2468I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351951	NM_001098816.3(TENM4):c.7372A>C (p.Ile2458Leu)	TENM4 (I2458L)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 730596	NM_001098816.3(TENM4):c.7312C>T (p.His2438Tyr)	TENM4 (H2438Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2233247	NM_001098816.3(TENM4):c.7262A>T (p.Tyr2421Phe)	TENM4 (Y2421F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325368	NM_001098816.3(TENM4):c.7252C>T (p.Arg2418Trp)	TENM4 (R2418W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342272	NM_001098816.3(TENM4):c.7191G>A (p.Gln2397=)	TENM4	Single nucleotide variant (synonymous variant)	Tremor, hereditary essential, 5 +1 more	GBenign
Select item 2642209	NM_001098816.3(TENM4):c.7146C>T (p.Tyr2382=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2274710	NM_001098816.3(TENM4):c.7135C>A (p.Gln2379Lys)	TENM4 (Q2379K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047240	NM_001098816.3(TENM4):c.7110T>C (p.Phe2370=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 783638	NM_001098816.3(TENM4):c.7062T>C (p.Asp2354=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722298	NM_001098816.3(TENM4):c.6966G>A (p.Lys2322=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257950	NM_001098816.3(TENM4):c.6929T>A (p.Leu2310Gln)	TENM4 (L2310Q)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3325361	NM_001098816.3(TENM4):c.6917A>C (p.His2306Pro)	TENM4 (H2306P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175960	NM_001098816.3(TENM4):c.6914G>A (p.Ser2305Asn)	TENM4 (S2305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464815	NM_001098816.3(TENM4):c.6898G>A (p.Val2300Met)	TENM4 (V2300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287886	NM_001098816.3(TENM4):c.6895C>T (p.Arg2299Cys)	TENM4 (R2299C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495707	NM_001098816.3(TENM4):c.6883G>C (p.Gly2295Arg)	TENM4 (G2295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396610	NM_001098816.3(TENM4):c.6875G>A (p.Arg2292His)	TENM4 (R2292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175959	NM_001098816.3(TENM4):c.6874C>A (p.Arg2292Ser)	TENM4 (R2292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036505	NM_001098816.3(TENM4):c.6874C>T (p.Arg2292Cys)	TENM4 (R2292C)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 2475540	NM_001098816.3(TENM4):c.6853G>A (p.Gly2285Ser)	TENM4 (G2285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240132	NM_001098816.3(TENM4):c.6799G>A (p.Asp2267Asn)	TENM4 (D2267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320240	NM_001098816.3(TENM4):c.6791G>A (p.Arg2264Gln)	TENM4 (R2264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588009	NM_001098816.3(TENM4):c.6751G>A (p.Val2251Met)	TENM4 (V2251M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025129	NM_001098816.3(TENM4):c.6745G>A (p.Gly2249Ser)	TENM4 (G2249S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570806	NM_001098816.3(TENM4):c.6740G>A (p.Arg2247Gln)	TENM4 (R2247Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2274239	NM_001098816.3(TENM4):c.6739C>T (p.Arg2247Trp)	TENM4 (R2247W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337665	NM_001098816.3(TENM4):c.6737C>G (p.Thr2246Ser)	TENM4 (T2246S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642210	NM_001098816.3(TENM4):c.6731G>A (p.Arg2244His)	TENM4 (R2244H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047506	NM_001098816.3(TENM4):c.6709C>T (p.Leu2237=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 2621024	NM_001098816.3(TENM4):c.6689A>G (p.Asn2230Ser)	TENM4 (N2230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931031	NM_001098816.3(TENM4):c.6668T>C (p.Leu2223Pro)	TENM4 (L2223P)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 717250	NM_001098816.3(TENM4):c.6651C>T (p.Tyr2217=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589440	NM_001098816.3(TENM4):c.6635T>A (p.Leu2212His)	TENM4 (L2212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612991	NM_001098816.3(TENM4):c.6634C>T (p.Leu2212Phe)	TENM4 (L2212F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325364	NM_001098816.3(TENM4):c.6628A>C (p.Lys2210Gln)	TENM4 (K2210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 985158	NM_001098816.3(TENM4):c.6572G>A (p.Arg2191His)	TENM4 (R2191H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642211	NM_001098816.3(TENM4):c.6524G>A (p.Arg2175Gln)	TENM4 (R2175Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2489603	NM_001098816.3(TENM4):c.6488T>C (p.Met2163Thr)	TENM4 (M2163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325353	NM_001098816.3(TENM4):c.6482C>T (p.Ser2161Leu)	TENM4 (S2161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325342	NM_001098816.3(TENM4):c.6479G>A (p.Arg2160His)	TENM4 (R2160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642212	NM_001098816.3(TENM4):c.6386A>G (p.Asp2129Gly)	TENM4 (D2129G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784521	NM_001098816.3(TENM4):c.6354G>A (p.Glu2118=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554593	NM_001098816.3(TENM4):c.6332A>T (p.Asp2111Val)	TENM4 (D2111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 986196	NM_001098816.3(TENM4):c.6323A>G (p.Tyr2108Cys)	TENM4 (Y2108C)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5 +2 more	GUncertain significance
Select item 2401262	NM_001098816.3(TENM4):c.6298G>A (p.Glu2100Lys)	TENM4 (E2100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555844	NM_001098816.3(TENM4):c.6269G>A (p.Arg2090Gln)	TENM4 (R2090Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220560	NM_001098816.3(TENM4):c.6238C>T (p.Arg2080Cys)	TENM4 (R2080C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770978	NM_001098816.3(TENM4):c.6234C>T (p.Asn2078=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2296452	NM_001098816.3(TENM4):c.6229G>T (p.Val2077Phe)	TENM4 (V2077F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050119	NM_001098816.3(TENM4):c.6226A>G (p.Met2076Val)	TENM4 (M2076V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779309	NM_001098816.3(TENM4):c.6114A>G (p.Ala2038=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3175957	NM_001098816.3(TENM4):c.6113C>T (p.Ala2038Val)	TENM4 (A2038V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758148	NM_001098816.3(TENM4):c.6111G>A (p.Thr2037=)	TENM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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