KCTD17[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285757	NC_000022.11:g.37051501A>G	KCTD17	Single nucleotide variant	not provided	GBenign
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 1110652	NM_001282684.2(KCTD17):c.93G>A (p.Gly31=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely 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 1532956	NM_001282684.2(KCTD17):c.123G>A (p.Thr41=)	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 2095344	NM_001282684.2(KCTD17):c.189+19G>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 1712159	NM_001282684.2(KCTD17):c.189+31C>T	KCTD17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253232	NM_001282684.2(KCTD17):c.189+205G>A	KCTD17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249079	NM_001282684.2(KCTD17):c.189+243C>T	KCTD17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3008646	NM_001282684.2(KCTD17):c.190-15C>T	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 2164685	NM_001282684.2(KCTD17):c.202G>A (p.Ala68Thr)	KCTD17 (A68T)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
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 2476662	NM_001282684.2(KCTD17):c.235G>A (p.Gly79Arg)	KCTD17 (G79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2071637	NM_001282684.2(KCTD17):c.283G>C (p.Asp95His)	KCTD17 (D95H)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 706655	NM_001282684.2(KCTD17):c.298+9G>C	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GBenign
Select item 1326245	NM_001282684.2(KCTD17):c.298+87C>T	KCTD17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327777	NM_001282684.2(KCTD17):c.298+147A>G	KCTD17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284251	NM_001282684.2(KCTD17):c.299-225C>T	KCTD17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686698	NM_001282684.2(KCTD17):c.299-76C>T	KCTD17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 640218	NM_001282684.2(KCTD17):c.299G>C (p.Gly100Ala)	KCTD17 (G107A +1 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26 +1 more	GUncertain significance
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 2609401	NM_001282684.2(KCTD17):c.316G>A (p.Glu106Lys)	KCTD17 (E106K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1721924	NM_001282684.2(KCTD17):c.332G>T (p.Gly111Val)	KCTD17 (G111V)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
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 1167572	NM_001282684.2(KCTD17):c.336G>A (p.Pro112=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GBenign
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 2543584	NM_001282684.2(KCTD17):c.358C>T (p.Arg120Trp)	KCTD17 (R120W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2041567	NM_001282684.2(KCTD17):c.380C>T (p.Thr127Met)	KCTD17 (T127M)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
Select item 3287823	NM_001282684.2(KCTD17):c.386C>A (p.Thr129Asn)	KCTD17 (T129N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635120	NM_001282684.2(KCTD17):c.390+1G>T	KCTD17	Single nucleotide variant (splice donor variant)	KCTD17-related disorder	GUncertain significance
Select item 542657	NM_001282684.2(KCTD17):c.390+6G>A	KCTD17	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2814754	NM_001282684.2(KCTD17):c.390+13G>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2805854	NM_001282684.2(KCTD17):c.390+20C>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 1175421	NM_001282684.2(KCTD17):c.391-182G>T	KCTD17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240910	NM_001282684.2(KCTD17):c.391-179A>G	KCTD17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2764776	NM_001282684.2(KCTD17):c.391-14C>T	KCTD17	Single nucleotide variant (intron 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 1168331	NM_001282684.2(KCTD17):c.405C>T (p.His135=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26 +1 more	GBenign
Select item 1312205	NM_001282684.2(KCTD17):c.413G>C (p.Arg138Pro)	KCTD17 (R138P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191372	NM_001282684.2(KCTD17):c.413G>A (p.Arg138His)	KCTD17 (R145H +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1974785	NM_001282684.2(KCTD17):c.436G>A (p.Glu146Lys)	KCTD17 (E146K)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
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 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 2713279	NM_001282684.2(KCTD17):c.486+4C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GUncertain significance
Select item 654507	NM_001282684.2(KCTD17):c.486+5G>A	KCTD17	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1551381	NM_001282684.2(KCTD17):c.486+20G>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 1328896	NM_001282684.2(KCTD17):c.487-241G>A	KCTD17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1686677	NM_001282684.2(KCTD17):c.487-113G>A	KCTD17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233889	NM_001282684.2(KCTD17):c.487-50C>T	KCTD17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3237472	NM_001282684.2(KCTD17):c.487-1G>C	KCTD17	Single nucleotide variant (splice acceptor variant)	Myoclonic dystonia 26	GPathogenic
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 705945	NM_001282684.2(KCTD17):c.498C>T (p.Ile166=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GBenign
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 1989483	NM_001282684.2(KCTD17):c.516C>T (p.Tyr172=)	KCTD17	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
Select item 2289314	NM_001282684.2(KCTD17):c.517G>A (p.Gly173Ser)	KCTD17 (G173S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 645834	NM_001282684.2(KCTD17):c.529C>A (p.Gln177Lys)	KCTD17 (Q184K +1 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26	GUncertain significance
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 2765450	NM_001282684.2(KCTD17):c.547dup (p.Val183fs)	KCTD17 (V183fs)	Duplication (frameshift variant)	Myoclonic dystonia 26	GPathogenic
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 542656	NM_001282684.2(KCTD17):c.569G>C (p.Ser190Thr)	KCTD17 (S197T +1 more)	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 2779403	NM_001282684.2(KCTD17):c.579C>T (p.Asn193=)	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 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 3113623	NM_001282684.2(KCTD17):c.608C>G (p.Thr203Ser)	KCTD17 (T203S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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
Select item 2813974	NM_001282684.2(KCTD17):c.612+12C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GBenign
Select item 1279772	NM_001282684.2(KCTD17):c.612+267T>C	KCTD17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2141105	NM_001282684.2(KCTD17):c.613-17C>T	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2059487	NM_001282684.2(KCTD17):c.613-14C>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 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 2817303	NM_001282684.2(KCTD17):c.653_667dup (p.Glu222_Val223insGluGluValGluGlu)	KCTD17	Duplication (inframe_insertion +1 more)	Myoclonic dystonia 26	GUncertain significance
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 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 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 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 1342816	NM_001282684.2(KCTD17):c.713-86C>A	KCTD17	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 2093187	NM_001282684.2(KCTD17):c.785-15G>A	KCTD17	Single nucleotide variant (intron variant)	Myoclonic dystonia 26	GLikely benign
Select item 2038125	NM_001282684.2(KCTD17):c.785-10C>T	KCTD17	Single nucleotide variant (intron 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 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 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 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 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 2273442	NM_001282684.2(KCTD17):c.796C>T (p.His266Tyr)	KCTD17 (H242Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3113624	NM_001282684.2(KCTD17):c.811G>A (p.Glu271Lys)	KCTD17 (E247K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 726468	NM_001282684.2(KCTD17):c.816T>G (p.Ala272=)	KCTD17 (L215R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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