31[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 386

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	AATF, ACACA +38 more	Copy number loss	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 155596	GRCh37/hg19 17q12(chr17:34822465-36283612)x3	AATF, ACACA +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 154005	GRCh37/hg19 17q12(chr17:34822465-36283807)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153885	GRCh37/hg19 17q12(chr17:34822466-36316161)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153855	GRCh37/hg19 17q12(chr17:34822466-36283612)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153818	GRCh37/hg19 17q12(chr17:34822465-36350005)x3	AATF, ACACA +31 more	Copy number gain	See cases	GLikely pathogenic
Select item 153746	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153717	GRCh37/hg19 17q12(chr17:34822466-36393628)x1	AATF, ACACA +31 more	Copy number loss	See cases	GPathogenic
Select item 152579	GRCh37/hg19 17q12(chr17:34856055-36248859)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 148852	GRCh37/hg19 17q12(chr17:34817422-36188700)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 60477	GRCh37/hg19 17q12(chr17:34899836-36224189)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 60474	GRCh37/hg19 17q12(chr17:34851537-36173763)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 60472	GRCh37/hg19 17q12(chr17:34817422-36168104)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 58169	GRCh37/hg19 17q12(chr17:34817422-36173763)x3	AATF, ACACA +28 more	Copy number gain	See cases	GPathogenic
Select item 58168	GRCh37/hg19 17q12(chr17:34815184-36209228)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 57515	GRCh37/hg19 17q12(chr17:34899836-36177728)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 144685	GRCh37/hg19 17q12(chr17:35076189-36248926)x1	AATF, ACACA +25 more	Copy number loss	See cases	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	LOC126862543, LOC126862544 +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 545221	Single allele	AATF, ACACA +37 more	Duplication	Autism	GLikely pathogenic
Select item 545220	NC_000017.11:g.(?_36357256)_(37995300_?)del	AATF, ACACA +37 more	Deletion	Schizophrenia	GPathogenic
Select item 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 160879	GRCh38/hg38 17q12(chr17:36357258-37889296)x3	AATF, ACACA +35 more	Copy number gain	See cases	GPathogenic
Select item 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 60471	GRCh38/hg38 17q12(chr17:36422657-37890225)x1	AATF, ACACA +34 more	Copy number loss	See cases	GPathogenic
Select item 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 more	Deletion	Autism	GPathogenic
Select item 148853	GRCh38/hg38 17q12(chr17:36446545-38225796)x1	AATF, ACACA +39 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 149614	GRCh38/hg38 17q12(chr17:36461608-37889296)x3	AATF, ACACA +33 more	Copy number gain	See cases	GLikely pathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2579204	GRCh38/hg38 17q12(chr17:36486532-37745203)x1	AATF, ACACA +32 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 60473	GRCh38/hg38 17q12(chr17:36493974-37890225)x1	AATF, ACACA +33 more	Copy number loss	See cases	GPathogenic
Select item 160874	GRCh38/hg38 17q12(chr17:36500215-37889296)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 32491	GRCh38/hg38 17q12(chr17:36500215-37889296)x3	ACACA, C17orf78 +32 more	Copy number gain	See cases	GPathogenic
Select item 149644	GRCh38/hg38 17q12(chr17:36500465-37889304)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 153059	GRCh38/hg38 17q12(chr17:36566143-37808105)x3	AATF, ACACA +29 more	Copy number gain	See cases	GUncertain significance
Select item 1338823	GRCh38/hg38 17q12(chr17:36719878-37889304)	DDX52, AATF +25 more	Copy number loss	Diaphragmatic eventration	GUncertain significance
Select item 3001168	NM_198834.3(ACACA):c.7118G>A (p.Arg2373Gln)	ACACA (R2373Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967853	NM_198834.3(ACACA):c.7080G>C (p.Thr2360=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2473189	NM_198834.3(ACACA):c.7043A>G (p.Asn2348Ser)	ACACA (N2348S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1987384	NM_198834.3(ACACA):c.7028+20C>T	ACACA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1905814	NM_198834.3(ACACA):c.7028+12G>A	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987855	NM_198834.3(ACACA):c.7028+11C>T	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959426	NM_198834.3(ACACA):c.7014C>T (p.Leu2338=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2954715	NM_198834.3(ACACA):c.7008C>T (p.Tyr2336=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001182	NM_198834.3(ACACA):c.6969G>A (p.Ser2323=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559339	NM_198834.3(ACACA):c.6924G>A (p.Ala2308=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1030416	NM_198834.3(ACACA):c.6923C>T (p.Ala2308Val)	ACACA (A2193V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1631976	NM_198834.3(ACACA):c.6879A>G (p.Glu2293=)	ACACA, LOC126862545	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783953	NM_198834.3(ACACA):c.6876G>A (p.Val2292=)	ACACA, LOC126862545	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343742	NM_198834.3(ACACA):c.6812A>G (p.Asn2271Ser)	ACACA, LOC126862545 (N2156S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1429605	NM_198834.3(ACACA):c.6739A>T (p.Thr2247Ser)	ACACA, LOC126862545 (T2210S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683417	NM_198834.3(ACACA):c.6720+2dup	ACACA	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2333287	NM_198834.3(ACACA):c.6694C>T (p.Arg2232Trp)	ACACA (R2195W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2018408	NM_198834.3(ACACA):c.6682G>A (p.Asp2228Asn)	ACACA (D2113N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1799553	NM_198834.3(ACACA):c.6641C>A (p.Pro2214His)	ACACA (P2214H +3 more)	Single nucleotide variant (missense variant)	Acetyl-CoA: carboxylase deficiency	GPathogenic/Likely pathogenic
Select item 1600886	NM_198834.3(ACACA):c.6634C>T (p.Leu2212=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder +1 more	GBenign/Likely benign
Select item 1900468	NM_198834.3(ACACA):c.6593G>A (p.Arg2198Gln)	ACACA (R2103Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443958	NM_198834.3(ACACA):c.6592C>T (p.Arg2198Trp)	ACACA (R2083W +2 more)	Single nucleotide variant (missense variant)	Acetyl-CoA: carboxylase deficiency	GPathogenic
Select item 2781203	NM_198834.3(ACACA):c.6577C>G (p.Leu2193Val)	ACACA (L2098V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559757	NM_198834.3(ACACA):c.6576G>A (p.Glu2192=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990396	NM_198834.3(ACACA):c.6566G>A (p.Gly2189Glu)	ACACA (G2094E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3047022	NM_198834.3(ACACA):c.6534C>T (p.Asp2178=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 2234718	NM_198834.3(ACACA):c.6526C>T (p.Arg2176Trp)	ACACA (R2061W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2130259	NM_198834.3(ACACA):c.6483A>G (p.Val2161=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931437	NM_198834.3(ACACA):c.6452+6G>T	ACACA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 559340	NM_198834.3(ACACA):c.6444A>C (p.Arg2148=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder +1 more	GBenign
Select item 1976725	NM_198834.3(ACACA):c.6442C>T (p.Arg2148Ter)	ACACA (R2111* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1974002	NM_198834.3(ACACA):c.6361C>G (p.Pro2121Ala)	ACACA (P2006A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911747	NM_198834.3(ACACA):c.6282C>T (p.Tyr2094=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder +1 more	GLikely benign
Select item 2969497	NM_198834.3(ACACA):c.6275-6C>T	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961433	NM_198834.3(ACACA):c.6275-16G>T	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2188127	NM_198834.3(ACACA):c.6213C>T (p.Asn2071=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990723	NM_198834.3(ACACA):c.6210C>T (p.Phe2070=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171699	NM_198834.3(ACACA):c.6189G>C (p.Thr2063=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2042389	NM_198834.3(ACACA):c.6189G>A (p.Thr2063=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531074	NM_198834.3(ACACA):c.6189= (p.Thr2063=)	ACACA	Variation (no sequence alteration)	not provided	GBenign
Select item 2618738	NM_198834.3(ACACA):c.6188C>T (p.Thr2063Met)	ACACA (T1948M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2792877	NM_198834.3(ACACA):c.6042-3C>T	ACACA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2968363	NM_198834.3(ACACA):c.6042-14T>C	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531510	NM_198834.3(ACACA):c.6041+7G>A	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963838	NM_198834.3(ACACA):c.6033T>C (p.Gly2011=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115613	NM_198834.3(ACACA):c.6029T>C (p.Val2010Ala)	ACACA (V1895A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040867	NM_198834.3(ACACA):c.6024G>C (p.Val2008=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 493213	NM_198834.3(ACACA):c.6020C>T (p.Thr2007Ile)	ACACA (T2007I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930122	NM_198834.3(ACACA):c.5945-22TTTC[2]	ACACA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1991751	NM_198834.3(ACACA):c.5945-13T>C	ACACA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2336691	NM_198834.3(ACACA):c.5875A>T (p.Ile1959Phe)	ACACA (I1864F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3003525	NM_198834.3(ACACA):c.5824-20C>T	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023032	NM_198834.3(ACACA):c.5737C>T (p.His1913Tyr)	ACACA (H1798Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963560	NM_198834.3(ACACA):c.5708A>G (p.Asn1903Ser)	ACACA (N1808S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2959450	NM_198834.3(ACACA):c.5700C>T (p.Tyr1900=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 4