ClinVar for MedGen (Select 904244) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242200	NM_001282684.2(KCTD17):c.760C>A (p.Pro254Thr)	KCTD17 (P254T)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 3237472	NM_001282684.2(KCTD17):c.487-1G>C	KCTD17	Single nucleotide variant (splice acceptor variant)	Myoclonic dystonia 26	GPathogenic
Select item 3019546	NM_001282684.2(KCTD17):c.634G>A (p.Glu212Lys)	KCTD17 (E212K)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 3008646	NM_001282684.2(KCTD17):c.190-15C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2989972	NM_001282684.2(KCTD17):c.360G>A (p.Arg120=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 2987975	NM_001282684.2(KCTD17):c.875+15G>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2966044	NM_001282684.2(KCTD17):c.-11C>G	KCTD17, LOC130067340	Single nucleotide variant (5 prime UTR variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2911460	NM_001282684.2(KCTD17):c.941T>C (p.Ile314Thr)	KCTD17 (I314T +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 2888261	NM_001282684.2(KCTD17):c.40G>T (p.Ala14Ser)	KCTD17, LOC130067340 (A14S)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2845364	NM_001282684.2(KCTD17):c.415G>T (p.Val139Leu)	KCTD17 (V139L)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2843163	NM_001282684.2(KCTD17):c.842G>C (p.Arg281Pro)	KCTD17 (R257P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2829477	NM_001282684.2(KCTD17):c.42G>A (p.Ala14=)	KCTD17, LOC130067340	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 2817303	NM_001282684.2(KCTD17):c.653_667dup (p.Glu222_Val223insGluGluValGluGlu)	KCTD17	Duplication (inframe_insertion +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 2814754	NM_001282684.2(KCTD17):c.390+13G>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2813974	NM_001282684.2(KCTD17):c.612+12C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GBenign
Select item 2805854	NM_001282684.2(KCTD17):c.390+20C>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2792111	NM_001282684.2(KCTD17):c.199G>C (p.Gly67Arg)	KCTD17 (G67R)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2779403	NM_001282684.2(KCTD17):c.579C>T (p.Asn193=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 2765450	NM_001282684.2(KCTD17):c.547dup (p.Val183fs)	KCTD17 (V183fs)	Duplication (frameshift variant)	Myoclonic dystonia 26	GPathogenic
Select item 2764776	NM_001282684.2(KCTD17):c.391-14C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2754093	NM_001282684.2(KCTD17):c.557A>G (p.Lys186Arg)	KCTD17 (K186R)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2713279	NM_001282684.2(KCTD17):c.486+4C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2705042	NM_001282684.2(KCTD17):c.489G>T (p.Leu163=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 2627319	NM_001282684.2(KCTD17):c.794C>T (p.Pro265Leu)	KCTD17 (P241L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2419720	NM_001282684.2(KCTD17):c.875+9C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2279970	NM_001282684.2(KCTD17):c.331G>A (p.Gly111Ser)	KCTD17 (G111S)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26 +1 more	GConflicting classifications of pathogenicity
Select item 2201990	NM_001282684.2(KCTD17):c.906G>A (p.Glu302=)	KCTD17	Single nucleotide variant (synonymous variant +1 more)	Myoclonic dystonia 26	GLikely benign
Select item 2196040	NM_001282684.2(KCTD17):c.898G>T (p.Gly300Ter)	KCTD17 (G276* +2 more)	Single nucleotide variant (nonsense +2 more)	Myoclonic dystonia 26	GUncertain significance
Select item 2178443	NM_001282684.2(KCTD17):c.18G>C (p.Gly6=)	KCTD17, LOC130067340	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 2164685	NM_001282684.2(KCTD17):c.202G>A (p.Ala68Thr)	KCTD17 (A68T)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2156075	NM_001282684.2(KCTD17):c.876-20T>G	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2154972	NM_001282684.2(KCTD17):c.795G>A (p.Pro265=)	KCTD17 (R208H)	Single nucleotide variant (synonymous variant +2 more)	Myoclonic dystonia 26	GLikely benign
Select item 2151438	NM_001282684.2(KCTD17):c.892G>A (p.Ala298Thr)	KCTD17 (A298T +2 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 2141105	NM_001282684.2(KCTD17):c.613-17C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2107604	NM_001282684.2(KCTD17):c.898G>A (p.Gly300Arg)	KCTD17 (G276R +2 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26	GLikely benign
Select item 2107504	NM_001282684.2(KCTD17):c.770C>T (p.Pro257Leu)	KCTD17 (P257L)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 2095344	NM_001282684.2(KCTD17):c.189+19G>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2093187	NM_001282684.2(KCTD17):c.785-15G>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2083794	NM_001282684.2(KCTD17):c.849C>T (p.Leu283=)	KCTD17	Single nucleotide variant (synonymous variant +2 more)	Myoclonic dystonia 26	GLikely benign
Select item 2078736	NM_001282684.2(KCTD17):c.771G>A (p.Pro257=)	KCTD17	Single nucleotide variant (synonymous variant +1 more)	Myoclonic dystonia 26	GLikely benign
Select item 2073166	NM_001282684.2(KCTD17):c.57A>C (p.Ala19=)	KCTD17, LOC130067340	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 2071637	NM_001282684.2(KCTD17):c.283G>C (p.Asp95His)	KCTD17 (D95H)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2071443	NM_001282684.2(KCTD17):c.876-5dup	KCTD17	Duplication (intron variant)	Myoclonic dystonia 26	GBenign
Select item 2070588	NM_001282684.2(KCTD17):c.876-13C>G	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2068942	NM_001282684.2(KCTD17):c.475C>T (p.Arg159Cys)	KCTD17 (R159C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2062678	NM_001282684.2(KCTD17):c.346A>C (p.Ile116Leu)	KCTD17 (I116L)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2061604	NM_001282684.2(KCTD17):c.601C>T (p.Arg201Cys)	KCTD17 (R201C)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26 +2 more	GConflicting classifications of pathogenicity
Select item 2060770	NM_001282684.2(KCTD17):c.790C>T (p.Arg264Cys)	KCTD17 (R240C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2059487	NM_001282684.2(KCTD17):c.613-14C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2051515	NM_001282684.2(KCTD17):c.656AGGTGGAGG[1] (p.219EVE[1])	KCTD17	Microsatellite (inframe_deletion +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 2041567	NM_001282684.2(KCTD17):c.380C>T (p.Thr127Met)	KCTD17 (T127M)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 2038125	NM_001282684.2(KCTD17):c.785-10C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2037840	NM_001282684.2(KCTD17):c.617C>T (p.Thr206Met)	KCTD17 (T206M)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26 +1 more	GUncertain significance
Select item 2024019	NM_001282684.2(KCTD17):c.735T>G (p.Ala245=)	KCTD17	Single nucleotide variant (synonymous variant +1 more)	Myoclonic dystonia 26	GLikely benign
Select item 1992304	NM_001282684.2(KCTD17):c.6G>C (p.Arg2Ser)	KCTD17, LOC130067340 (R2S)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 1989483	NM_001282684.2(KCTD17):c.516C>T (p.Tyr172=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1974785	NM_001282684.2(KCTD17):c.436G>A (p.Glu146Lys)	KCTD17 (E146K)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 1966258	NM_001282684.2(KCTD17):c.90G>C (p.Val30=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1924264	NM_001282684.2(KCTD17):c.580G>A (p.Gly194Arg)	KCTD17 (G194R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1721924	NM_001282684.2(KCTD17):c.332G>T (p.Gly111Val)	KCTD17 (G111V)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 1650377	NM_001282684.2(KCTD17):c.-10G>A	KCTD17, LOC130067340	Single nucleotide variant (5 prime UTR variant)	Myoclonic dystonia 26	GLikely benign
Select item 1572806	NM_001282684.2(KCTD17):c.255C>G (p.Leu85=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1551381	NM_001282684.2(KCTD17):c.486+20G>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 1539741	NM_001282684.2(KCTD17):c.876-13_876-12del	KCTD17	Microsatellite (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 1539668	NM_001282684.2(KCTD17):c.875+14C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 1532973	NM_001282684.2(KCTD17):c.42G>T (p.Ala14=)	KCTD17, LOC130067340	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1532956	NM_001282684.2(KCTD17):c.123G>A (p.Thr41=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1516101	NM_001282684.2(KCTD17):c.332G>A (p.Gly111Asp)	KCTD17 (G111D)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 1512543	NM_001282684.2(KCTD17):c.856C>G (p.Pro286Ala)	KCTD17 (P262A +1 more)	Single nucleotide variant (missense variant +2 more)	Myoclonic dystonia 26	GUncertain significance
Select item 1473076	NM_001282684.2(KCTD17):c.17G>A (p.Gly6Glu)	KCTD17, LOC130067340 (G6E)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 1444805	NM_001282684.2(KCTD17):c.571A>G (p.Thr191Ala)	KCTD17 (T191A)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 1433864	NM_001282684.2(KCTD17):c.854G>A (p.Arg285His)	KCTD17 (R261H +1 more)	Single nucleotide variant (missense variant +2 more)	Myoclonic dystonia 26	GUncertain significance
Select item 1365211	NM_001282684.2(KCTD17):c.668T>C (p.Val223Ala)	KCTD17 (V223A)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 1364106	NM_001282684.2(KCTD17):c.20A>G (p.Glu7Gly)	KCTD17, LOC130067340 (E7G)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 1168447	NM_001282684.2(KCTD17):c.55G>A (p.Ala19Thr)	KCTD17, LOC130067340 (A26T +1 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26 +1 more	GBenign
Select item 1168331	NM_001282684.2(KCTD17):c.405C>T (p.His135=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26 +1 more	GBenign
Select item 1167572	NM_001282684.2(KCTD17):c.336G>A (p.Pro112=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GBenign
Select item 1137992	NM_001282684.2(KCTD17):c.234C>T (p.Phe78=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1123314	NM_001282684.2(KCTD17):c.391-8G>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 1116437	NM_001282684.2(KCTD17):c.499G>A (p.Gly167Ser)	KCTD17 (G167S)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GLikely benign
Select item 1115160	NM_001282684.2(KCTD17):c.444G>A (p.Thr148=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1110652	NM_001282684.2(KCTD17):c.93G>A (p.Gly31=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1105944	NM_001282684.2(KCTD17):c.306G>A (p.Leu102=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1095722	NM_001282684.2(KCTD17):c.144C>T (p.Ser48=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 1081498	NM_001282684.2(KCTD17):c.777C>T (p.Pro259=)	KCTD17	Single nucleotide variant (synonymous variant +1 more)	Myoclonic dystonia 26 +1 more	GLikely benign
Select item 1027881	NM_001282684.2(KCTD17):c.5G>C (p.Arg2Thr)	KCTD17, LOC130067340 (R9T +1 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 1022760	NM_001282684.2(KCTD17):c.522C>T (p.Ser174=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 846140	NM_001282684.2(KCTD17):c.785G>A (p.Gly262Asp)	KCTD17 (G269D +3 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 843510	NM_001282684.2(KCTD17):c.41C>T (p.Ala14Val)	KCTD17, LOC130067340 (A21V +1 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 706813	NM_001282684.2(KCTD17):c.699T>C (p.Asp233=)	KCTD17	Single nucleotide variant (synonymous variant +1 more)	Myoclonic dystonia 26	GLikely benign
Select item 706655	NM_001282684.2(KCTD17):c.298+9G>C	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GBenign
Select item 706228	NM_001282684.2(KCTD17):c.882C>T (p.Tyr294=)	KCTD17 (Q207*)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 706046	NM_001282684.2(KCTD17):c.894A>T (p.Ala298=)	KCTD17 (T211S)	Single nucleotide variant (synonymous variant +2 more)	Myoclonic dystonia 26	GLikely benign
Select item 705945	NM_001282684.2(KCTD17):c.498C>T (p.Ile166=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GBenign
Select item 703874	NM_001282684.2(KCTD17):c.791G>A (p.Arg264His)	KCTD17 (R271H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 694415	NM_001282684.2(KCTD17):c.99G>A (p.Thr33=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GBenign/Likely benign
Select item 665524	NM_001282684.2(KCTD17):c.535G>A (p.Glu179Lys)	KCTD17 (E186K +1 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 661812	NM_001282684.2(KCTD17):c.688G>T (p.Val230Leu)	KCTD17 (V237L +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 26	GUncertain significance
Select item 655603	NM_001282684.2(KCTD17):c.611A>C (p.Lys204Thr)	KCTD17 (K211T +1 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance

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