ClinVar for Gene (Select 147166) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328647	NR_172633.1(TRIM16L):n.993A>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3328646	NR_172633.1(TRIM16L):n.1544G>C	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3182253	NR_172633.1(TRIM16L):n.1671A>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3182252	NR_172633.1(TRIM16L):n.1667T>C	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3182251	NR_172633.1(TRIM16L):n.773G>A	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3182249	NR_172633.1(TRIM16L):n.1103G>A	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3182248	NR_172633.1(TRIM16L):n.1016C>T	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3182247	NR_172633.1(TRIM16L):n.953G>A	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3182246	NR_172633.1(TRIM16L):n.891C>T	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684838	GRCh37/hg19 17p11.2(chr17:18509272-18917513)x3	FAM83G, FBXW10 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2671583	Single allele	LGALS9C, MIR33B +30 more	Duplication	not provided	GPathogenic
Select item 2647559	NC_000017.11:g.18701451T>C	TRIM16L	Single nucleotide variant	not provided	GLikely benign
Select item 2598519	NR_172633.1(TRIM16L):n.1235C>T	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2590688	NR_172633.1(TRIM16L):n.1106A>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 2538683	NR_172633.1(TRIM16L):n.909A>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2536233	NR_172633.1(TRIM16L):n.758A>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2529064	NR_172633.1(TRIM16L):n.1544G>A	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2513236	NR_172633.1(TRIM16L):n.1304C>T	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2512205	NR_172633.1(TRIM16L):n.1194C>T	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	LLGL1, MAPK7 +44 more	Copy number loss	not provided	GPathogenic
Select item 2478213	NR_172633.1(TRIM16L):n.1464T>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 2404692	NR_172633.1(TRIM16L):n.1688C>T	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2404653	NR_172633.1(TRIM16L):n.1245C>A	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2395905	NR_172633.1(TRIM16L):n.1217C>T	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2367256	NR_172633.1(TRIM16L):n.1115C>T	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2329522	NR_172633.1(TRIM16L):n.1212A>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2309327	NR_172633.1(TRIM16L):n.1098T>A	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2299917	NR_172633.1(TRIM16L):n.1245C>T	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2295091	NR_172633.1(TRIM16L):n.1674A>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2253907	NR_172633.1(TRIM16L):n.810T>C	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2208344	NR_172633.1(TRIM16L):n.1584A>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2207732	NR_172633.1(TRIM16L):n.1077A>G	TRIM16L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1808657	GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	ALKBH5, ATPAF2 +38 more	Copy number gain	not provided	GPathogenic
Select item 1808264	GRCh37/hg19 17p11.2(chr17:18599744-18882395)x3	FAM83G, FBXW10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	ALKBH5, ATPAF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 980118	GRCh37/hg19 17p11.2(chr17:18599743-18876835)x3	FBXW10, PRPSAP2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 980117	GRCh37/hg19 17p11.2(chr17:18509439-19143976)x3	GRAPL, PRPSAP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 980114	GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	SMCR8, SNORD3A +47 more	Copy number gain	not provided	GPathogenic
Select item 815915	GRCh37/hg19 17p11.2(chr17:18537316-18686905)x3	TRIM16L, TVP23B +2 more	Copy number gain	not provided	GUncertain significance
Select item 815914	GRCh37/hg19 17p11.2(chr17:18484296-18696073)x3	FBXW10, TBC1D28 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815908	GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1	ADORA2B, ALKBH5 +42 more	Copy number loss	not provided	GPathogenic
Select item 688256	GRCh37/hg19 17p11.2(chr17:18529674-18923470)x1	FAM83G, FBXW10 +5 more	Copy number loss	not provided	GUncertain significance
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564417	GRCh37/hg19 17p11.2(chr17:18615096-18917513)x3	TRIM16L, FAM83G +4 more	Copy number gain	not provided	GUncertain significance
Select item 564413	GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564412	GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564411	GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	not provided	GPathogenic
Select item 564409	GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 564408	GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	GID4, GRAP +47 more	Copy number loss	not provided	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	DRC3, LOC130060351 +248 more	Duplication	Autism	GPathogenic
Select item 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 496743	arr[hg19]17p11.2(16,757,111-20,219,651)x3	MYO15A, NT5M +47 more	Duplication	Potocki-Lupski syndrome	GPathogenic
Select item 443760	GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 443148	GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	GPathogenic
Select item 442905	GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442795	GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442542	GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442368	GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 442167	GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 442079	GRCh37/hg19 17p11.2(chr17:18465208-18922732)x1	FAM83G, FBXW10 +5 more	Copy number loss	See cases	GUncertain significance
Select item 441899	GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	See cases	GPathogenic
Select item 441875	GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441841	GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395659	GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 394560	GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	ADORA2B, AKAP10 +59 more	Copy number loss	See cases	GPathogenic
Select item 394152	GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 393895	GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 393812	GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 253648	GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic
Select item 253426	GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1	EPN2, EVPLL +45 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic

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