KCTD17[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 1285757	NC_000022.11:g.37051501A>G	KCTD17	Single nucleotide variant	not provided	GBenign
Select item 1234678	NC_000022.11:g.37051627_37051642dup	KCTD17, LOC130067340	Duplication	not provided	GBenign
Select item 2318242	NM_001282684.2(KCTD17):c.-15A>C	KCTD17, LOC130067340	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
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 1650377	NM_001282684.2(KCTD17):c.-10G>A	KCTD17, LOC130067340	Single nucleotide variant (5 prime UTR variant)	Myoclonic dystonia 26	GLikely benign
Select item 2404145	NM_001282684.2(KCTD17):c.-5C>A	KCTD17, LOC130067340	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2653111	NM_001282684.2(KCTD17):c.1A>T (p.Met1Leu)	KCTD17, LOC130067340 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 2178443	NM_001282684.2(KCTD17):c.18G>C (p.Gly6=)	KCTD17, LOC130067340	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 26	GLikely benign
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 2321877	NM_001282684.2(KCTD17):c.32C>T (p.Pro11Leu)	KCTD17, LOC130067340 (P11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2829477	NM_001282684.2(KCTD17):c.42G>A (p.Ala14=)	KCTD17, LOC130067340	Single nucleotide variant (synonymous 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 1168447	NM_001282684.2(KCTD17):c.55G>A (p.Ala19Thr)	KCTD17, LOC130067340 (A26T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2547034	NM_001282684.2(KCTD17):c.56C>T (p.Ala19Val)	KCTD17, LOC130067340 (A19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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)	Myoclonic dystonia 26 +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)	not provided +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

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