388662[geneid] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1034371	NM_001010898.4(SLC6A17):c.29G>A (p.Arg10His)	SLC6A17, SLC6A17-AS1 (R10H)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 745853	NM_001010898.4(SLC6A17):c.81C>G (p.Leu27=)	SLC6A17, SLC6A17-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2463405	NM_001010898.4(SLC6A17):c.164T>C (p.Leu55Pro)	SLC6A17, SLC6A17-AS1 (L55P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1333111	NM_001010898.4(SLC6A17):c.168T>C (p.Asp56=)	SLC6A17, SLC6A17-AS1	Single nucleotide variant (synonymous variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GBenign
Select item 1333112	NM_001010898.4(SLC6A17):c.169G>A (p.Ala57Thr)	SLC6A17, SLC6A17-AS1 (A57T)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GBenign
Select item 3165411	NM_001010898.4(SLC6A17):c.175G>A (p.Asp59Asn)	SLC6A17, SLC6A17-AS1 (D59N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165415	NM_001010898.4(SLC6A17):c.208A>G (p.Ile70Val)	SLC6A17, SLC6A17-AS1 (I70V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2518688	NM_001010898.4(SLC6A17):c.221T>C (p.Ile74Thr)	SLC6A17, SLC6A17-AS1 (I74T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 723416	NM_001010898.4(SLC6A17):c.286+10A>G	SLC6A17, SLC6A17-AS1	Single nucleotide variant (intron variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome +2 more	GConflicting classifications of pathogenicity
Select item 436761	NM_001010898.4(SLC6A17):c.303C>A (p.Pro101=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 774397	NM_001010898.4(SLC6A17):c.327C>T (p.Ile109=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709501	NM_001010898.4(SLC6A17):c.351G>T (p.Glu117Asp)	SLC6A17 (E117D)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 2268928	NM_001010898.4(SLC6A17):c.371T>C (p.Ile124Thr)	SLC6A17 (I124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1709502	NM_001010898.4(SLC6A17):c.374G>A (p.Arg125His)	SLC6A17 (R125H)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 2638987	NM_001010898.4(SLC6A17):c.414C>A (p.Arg138=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774584	NM_001010898.4(SLC6A17):c.424A>G (p.Ile142Val)	SLC6A17 (I142V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 187769	NM_001010898.4(SLC6A17):c.484G>A (p.Gly162Arg)	SLC6A17 (G162R)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GPathogenic
Select item 436768	NM_001010898.4(SLC6A17):c.489G>C (p.Trp163Cys)	SLC6A17 (W163C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436762	NM_001010898.4(SLC6A17):c.525G>A (p.Pro175=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3165418	NM_001010898.4(SLC6A17):c.548T>C (p.Val183Ala)	SLC6A17 (V183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748157	NM_001010898.4(SLC6A17):c.672C>T (p.Asn224=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336151	NM_001010898.4(SLC6A17):c.696C>T (p.Leu232=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 713882	NM_001010898.4(SLC6A17):c.697G>A (p.Val233Met)	SLC6A17 (V233M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 765440	NM_001010898.4(SLC6A17):c.726C>T (p.Val242=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165419	NM_001010898.4(SLC6A17):c.727G>A (p.Val243Ile)	SLC6A17 (V243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1031719	NM_001010898.4(SLC6A17):c.754-4G>A	SLC6A17	Single nucleotide variant (intron variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 436763	NM_001010898.4(SLC6A17):c.824G>A (p.Arg275Gln)	SLC6A17 (R275Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1031720	NM_001010898.4(SLC6A17):c.852G>A (p.Met284Ile)	SLC6A17 (M284I)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 3062084	NM_001010898.4(SLC6A17):c.895C>T (p.Arg299Trp)	SLC6A17 (R299W)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 1336172	NM_001010898.4(SLC6A17):c.896G>A (p.Arg299Gln)	SLC6A17 (R299Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746398	NM_001010898.4(SLC6A17):c.925T>C (p.Leu309=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738995	NM_001010898.4(SLC6A17):c.1029G>A (p.Thr343=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765336	NM_001010898.4(SLC6A17):c.1104C>T (p.Val368=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436764	NM_001010898.4(SLC6A17):c.1105G>A (p.Glu369Lys)	SLC6A17 (E369K)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome +1 more	GUncertain significance
Select item 3064781	NM_001010898.4(SLC6A17):c.1129T>C (p.Tyr377His)	SLC6A17 (Y377H)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 2599077	NM_001010898.4(SLC6A17):c.1144G>T (p.Val382Phe)	SLC6A17 (V382F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165409	NM_001010898.4(SLC6A17):c.1154G>A (p.Arg385Gln)	SLC6A17 (R385Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338695	NM_001010898.4(SLC6A17):c.1174G>A (p.Val392Ile)	SLC6A17 (V392I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490819	NM_001010898.4(SLC6A17):c.1234G>A (p.Val412Met)	SLC6A17 (V412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436765	NM_001010898.4(SLC6A17):c.1287C>T (p.Asp429=)	SLC6A17	Single nucleotide variant (synonymous variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome +2 more	GLikely benign
Select item 2410662	NM_001010898.4(SLC6A17):c.1327A>G (p.Ile443Val)	SLC6A17 (I443V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299195	NM_001010898.4(SLC6A17):c.1484T>C (p.Met495Thr)	SLC6A17 (M495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1119707	NM_001010898.4(SLC6A17):c.1541G>A (p.Arg514His)	SLC6A17 (R514H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 736353	NM_001010898.4(SLC6A17):c.1545C>T (p.Ser515=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1690592	NM_001010898.4(SLC6A17):c.1567T>C (p.Phe523Leu)	SLC6A17 (F523L)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2585674	NM_001010898.4(SLC6A17):c.1581G>A (p.Ser527=)	SLC6A17	Single nucleotide variant (synonymous variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GBenign
Select item 2221065	NM_001010898.4(SLC6A17):c.1687C>A (p.Arg563Ser)	SLC6A17 (R563S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436766	NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met)	SLC6A17 (V575M)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome +1 more	GUncertain significance
Select item 3025564	NM_001010898.4(SLC6A17):c.1743T>C (p.Ala581=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165412	NM_001010898.4(SLC6A17):c.1763T>G (p.Ile588Ser)	SLC6A17 (I588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337259	NM_001010898.4(SLC6A17):c.1806C>T (p.Ile602=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2585675	NM_001010898.4(SLC6A17):c.1816-10C>T	SLC6A17	Single nucleotide variant (intron variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GBenign
Select item 3165413	NM_001010898.4(SLC6A17):c.1868C>T (p.Thr623Ile)	SLC6A17 (T623I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1131475	NM_001010898.4(SLC6A17):c.1876G>A (p.Val626Ile)	SLC6A17 (V626I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 187770	NM_001010898.4(SLC6A17):c.1898C>G (p.Pro633Arg)	SLC6A17 (P633R)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GPathogenic
Select item 3058006	NM_001010898.4(SLC6A17):c.1908C>T (p.Phe636=)	SLC6A17	Single nucleotide variant (synonymous variant)	SLC6A17-related disorder	GLikely benign
Select item 3165414	NM_001010898.4(SLC6A17):c.1918C>T (p.His640Tyr)	SLC6A17 (H640Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436767	NM_001010898.4(SLC6A17):c.1941C>G (p.Gly647=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1034370	NM_001010898.4(SLC6A17):c.1957G>A (p.Val653Met)	SLC6A17 (V653M)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 2212230	NM_001010898.4(SLC6A17):c.1976G>A (p.Arg659His)	SLC6A17 (R659H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307259	NM_001010898.4(SLC6A17):c.1997A>T (p.Asn666Ile)	SLC6A17 (N666I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044213	NM_001010898.4(SLC6A17):c.2013T>C (p.Asp671=)	SLC6A17	Single nucleotide variant (synonymous variant)	SLC6A17-related disorder	GLikely benign
Select item 1337593	NM_001010898.4(SLC6A17):c.2018C>A (p.Thr673Asn)	SLC6A17 (T673N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207864	NM_001010898.4(SLC6A17):c.2021G>A (p.Arg674His)	SLC6A17 (R674H)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 376873	NM_001010898.4(SLC6A17):c.2036A>G (p.Lys679Arg)	SLC6A17 (K679R)	Single nucleotide variant (missense variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome +1 more	GBenign/Likely benign
Select item 3056474	NM_001010898.4(SLC6A17):c.2049G>A (p.Glu683=)	SLC6A17	Single nucleotide variant (synonymous variant)	SLC6A17-related disorder	GBenign
Select item 2411121	NM_001010898.4(SLC6A17):c.2129A>G (p.Asn710Ser)	SLC6A17 (N710S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1131812	NM_001010898.4(SLC6A17):c.2134C>T (p.Arg712Cys)	SLC6A17 (R712C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3165416	NM_001010898.4(SLC6A17):c.2135G>A (p.Arg712His)	SLC6A17 (R712H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682285	NM_001010898.4(SLC6A17):c.2139T>A (p.Tyr713Ter)	SLC6A17 (Y713*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 724078	NM_001010898.4(SLC6A17):c.2145C>T (p.Ser715=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165417	NM_001010898.4(SLC6A17):c.2146G>A (p.Gly716Ser)	SLC6A17 (G716S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791806	NM_001010898.4(SLC6A17):c.2154G>C (p.Leu718=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1879090	NM_001010898.4(SLC6A17):c.2175G>A (p.Ser725=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1809023	GRCh37/hg19 1p13.3(chr1:110662135-111401322)x3	KCNA10, KCNA2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1459387	NC_000001.10:g.(?_110603355)_(111147404_?)del	ALX3, KCNA10 +8 more	Deletion	Developmental and epileptic encephalopathy, 32	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 93