"TENM4-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 798041	NM_001098816.3(TENM4):c.8198G>A (p.Arg2733Gln)	TENM4 (R2733Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 710060	NM_001098816.3(TENM4):c.8011G>A (p.Gly2671Arg)	TENM4 (G2671R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2485392	NM_001098816.3(TENM4):c.7840G>A (p.Val2614Met)	TENM4 (V2614M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 787095	NM_001098816.3(TENM4):c.7729G>T (p.Gly2577Cys)	TENM4 (G2577C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 2629046	NM_001098816.3(TENM4):c.7504G>A (p.Glu2502Lys)	TENM4 (E2502K)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 2642209	NM_001098816.3(TENM4):c.7146C>T (p.Tyr2382=)	TENM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 3036505	NM_001098816.3(TENM4):c.6874C>T (p.Arg2292Cys)	TENM4 (R2292C)	Single nucleotide variant (missense variant)	TENM4-related disorder	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 779309	NM_001098816.3(TENM4):c.6114A>G (p.Ala2038=)	TENM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3058127	NM_001098816.3(TENM4):c.6110C>T (p.Thr2037Met)	TENM4 (T2037M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 721964	NM_001098816.3(TENM4):c.5809C>G (p.Leu1937Val)	TENM4 (L1937V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3030525	NM_001098816.3(TENM4):c.5732G>T (p.Gly1911Val)	TENM4 (G1911V)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 788829	NM_001098816.3(TENM4):c.5612C>G (p.Pro1871Arg)	TENM4 (P1871R)	Single nucleotide variant (missense variant)	TENM4-related disorder +1 more	GBenign/Likely benign
Select item 730091	NM_001098816.3(TENM4):c.5545A>G (p.Thr1849Ala)	TENM4 (T1849A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3041789	NM_001098816.3(TENM4):c.5535C>T (p.Arg1845=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GBenign
Select item 2235238	NM_001098816.3(TENM4):c.5383G>A (p.Val1795Met)	TENM4 (V1795M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2538559	NM_001098816.3(TENM4):c.5270G>A (p.Arg1757Gln)	TENM4 (R1757Q)	Single nucleotide variant (missense variant)	TENM4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3030588	NM_001098816.3(TENM4):c.5213T>C (p.Ile1738Thr)	TENM4 (I1738T)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 3039735	NM_001098816.3(TENM4):c.4926G>A (p.Leu1642=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GBenign
Select item 734958	NM_001098816.3(TENM4):c.4659C>T (p.Ala1553=)	TENM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3030838	NM_001098816.3(TENM4):c.4603A>C (p.Lys1535Gln)	TENM4 (K1535Q)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 871652	NM_001098816.3(TENM4):c.4558A>G (p.Asn1520Asp)	TENM4 (N1520D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3034337	NM_001098816.3(TENM4):c.4380G>A (p.Lys1460=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GBenign
Select item 3035630	NM_001098816.3(TENM4):c.4332G>A (p.Arg1444=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 714015	NM_001098816.3(TENM4):c.4081A>G (p.Ile1361Val)	TENM4 (I1361V)	Single nucleotide variant (missense variant)	TENM4-related disorder +1 more	GBenign
Select item 3039401	NM_001098816.3(TENM4):c.4008C>T (p.Cys1336=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 3044469	NM_001098816.3(TENM4):c.3624C>T (p.Gly1208=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 3049467	NM_001098816.3(TENM4):c.3351T>C (p.Ile1117=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 3053442	NM_001098816.3(TENM4):c.3299G>A (p.Arg1100His)	TENM4 (R1100H)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 3033687	NM_001098816.3(TENM4):c.3087G>A (p.Thr1029=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 773828	NM_001098816.3(TENM4):c.2894A>G (p.Asn965Ser)	TENM4 (N965S)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5 +2 more	GBenign
Select item 773250	NM_001098816.3(TENM4):c.2789C>T (p.Thr930Ile)	TENM4 (T930I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3033035	NM_001098816.3(TENM4):c.2751T>C (p.Asp917=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 771449	NM_001098816.3(TENM4):c.2709C>A (p.Gly903=)	TENM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3033759	NM_001098816.3(TENM4):c.2514C>T (p.Cys838=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 2642225	NM_001098816.3(TENM4):c.2238C>T (p.Cys746=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder +1 more	GLikely benign
Select item 3061658	NM_001098816.3(TENM4):c.2179+9A>G	TENM4	Single nucleotide variant (intron variant)	TENM4-related disorder	GLikely benign
Select item 3037483	NM_001098816.3(TENM4):c.2109C>T (p.His703=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GBenign
Select item 2373010	NM_001098816.3(TENM4):c.2003C>T (p.Ser668Leu)	TENM4 (S668L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3048886	NM_001098816.3(TENM4):c.1979-9A>T	TENM4	Single nucleotide variant (intron variant)	TENM4-related disorder	GLikely benign
Select item 785372	NM_001098816.3(TENM4):c.1962C>T (p.Gly654=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder +1 more	GBenign
Select item 3025394	NM_001098816.3(TENM4):c.1568C>G (p.Pro523Arg)	TENM4 (P523R)	Single nucleotide variant (missense variant)	TENM4-related disorder +1 more	GBenign
Select item 3053870	NM_001098816.3(TENM4):c.1542G>A (p.Pro514=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 3030471	NM_001098816.3(TENM4):c.1523G>A (p.Arg508Gln)	TENM4 (R508Q)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 3035057	NM_001098816.3(TENM4):c.1398C>T (p.Phe466=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 3046036	NM_001098816.3(TENM4):c.1312G>T (p.Val438Leu)	TENM4 (V438L)	Single nucleotide variant (missense variant)	TENM4-related disorder	GLikely benign
Select item 768469	NM_001098816.3(TENM4):c.1255+9G>T	TENM4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3030093	NM_001098816.3(TENM4):c.1084+2T>A	TENM4	Single nucleotide variant (splice donor variant)	TENM4-related disorder	GUncertain significance
Select item 2642233	NM_001098816.3(TENM4):c.816C>T (p.Gly272=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder +1 more	GBenign/Likely benign
Select item 3061337	NM_001098816.3(TENM4):c.751A>G (p.Asn251Asp)	TENM4 (N251D)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 719080	NM_001098816.3(TENM4):c.738C>T (p.Pro246=)	TENM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3042746	NM_001098816.3(TENM4):c.718C>T (p.Leu240=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GLikely benign
Select item 3044014	NM_001098816.3(TENM4):c.533CGC[6] (p.Pro182_Leu183insPro)	TENM4	Microsatellite (inframe insertion)	TENM4-related disorder	GLikely benign
Select item 3056958	NM_001098816.3(TENM4):c.153C>T (p.Asp51=)	TENM4	Single nucleotide variant (synonymous variant)	TENM4-related disorder	GBenign
Select item 2628927	NM_001098816.3(TENM4):c.119G>C (p.Ser40Thr)	TENM4 (S40T)	Single nucleotide variant (missense variant)	TENM4-related disorder	GUncertain significance
Select item 710824	NM_001098816.3(TENM4):c.41G>A (p.Arg14Gln)	TENM4 (R14Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 59