"GeneDx"[submitter] AND "KCTD17"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 1974785	NM_001282684.2(KCTD17):c.436G>A (p.Glu146Lys)	KCTD17 (E146K)	Single nucleotide variant (missense variant)	Myoclonic dystonia 26 +1 more	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 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 2289314	NM_001282684.2(KCTD17):c.517G>A (p.Gly173Ser)	KCTD17 (G173S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1279772	NM_001282684.2(KCTD17):c.612+267T>C	KCTD17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342816	NM_001282684.2(KCTD17):c.713-86C>A	KCTD17	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1327701	NM_001282684.2(KCTD17):c.875+266G>A	KCTD17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300757	NM_001282684.2(KCTD17):c.876-286_876-284dup	KCTD17	Duplication (intron variant)	not provided	GLikely benign
Select item 476040	NM_001282684.2(KCTD17):c.897C>T (p.Pro299=)	KCTD17 (R212W)	Single nucleotide variant (synonymous variant +2 more)	Myoclonic dystonia 26 +1 more	GBenign
Select item 1278626	NM_001282684.2(KCTD17):c.*233T>C	KCTD17	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 30