LOC130067340[gene] - ClinVar

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Items: 25

	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 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)	Myoclonic dystonia 26 +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

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Items: 25