ClinVar for Gene (Select 388662) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353107	NM_001010898.4(SLC6A17):c.518A>G (p.Gln173Arg)	SLC6A17 (Q173R)	Single nucleotide variant (missense variant)	SLC6A17-related disorder	GUncertain significance
Select item 3345134	NM_001010898.4(SLC6A17):c.2036_2062del (p.Lys679_Pro687del)	SLC6A17	Deletion (inframe_deletion)	SLC6A17-related disorder	GUncertain significance
Select item 3320137	NM_001010898.4(SLC6A17):c.322A>G (p.Ile108Val)	SLC6A17 (I108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320136	NM_001010898.4(SLC6A17):c.1381A>C (p.Met461Leu)	SLC6A17 (M461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320135	NM_001010898.4(SLC6A17):c.1579T>G (p.Ser527Ala)	SLC6A17 (S527A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3165418	NM_001010898.4(SLC6A17):c.548T>C (p.Val183Ala)	SLC6A17 (V183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3165416	NM_001010898.4(SLC6A17):c.2135G>A (p.Arg712His)	SLC6A17 (R712H)	Single nucleotide variant (missense variant)	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 3165414	NM_001010898.4(SLC6A17):c.1918C>T (p.His640Tyr)	SLC6A17 (H640Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3165412	NM_001010898.4(SLC6A17):c.1763T>G (p.Ile588Ser)	SLC6A17 (I588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3165409	NM_001010898.4(SLC6A17):c.1154G>A (p.Arg385Gln)	SLC6A17 (R385Q)	Single nucleotide variant (missense variant)	not specified	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 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	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 3058006	NM_001010898.4(SLC6A17):c.1908C>T (p.Phe636=)	SLC6A17	Single nucleotide variant (synonymous variant)	SLC6A17-related disorder	GLikely 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 3044213	NM_001010898.4(SLC6A17):c.2013T>C (p.Asp671=)	SLC6A17	Single nucleotide variant (synonymous variant)	SLC6A17-related disorder	GLikely benign
Select item 3025564	NM_001010898.4(SLC6A17):c.1743T>C (p.Ala581=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2682285	NM_001010898.4(SLC6A17):c.2139T>A (p.Tyr713Ter)	SLC6A17 (Y713*)	Single nucleotide variant (nonsense)	not specified	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 2599077	NM_001010898.4(SLC6A17):c.1144G>T (p.Val382Phe)	SLC6A17 (V382F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2490819	NM_001010898.4(SLC6A17):c.1234G>A (p.Val412Met)	SLC6A17 (V412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
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 2410662	NM_001010898.4(SLC6A17):c.1327A>G (p.Ile443Val)	SLC6A17 (I443V)	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 2299195	NM_001010898.4(SLC6A17):c.1484T>C (p.Met495Thr)	SLC6A17 (M495T)	Single nucleotide variant (missense variant)	not specified	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 2221065	NM_001010898.4(SLC6A17):c.1687C>A (p.Arg563Ser)	SLC6A17 (R563S)	Single nucleotide variant (missense variant)	not specified	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 1879090	NM_001010898.4(SLC6A17):c.2175G>A (p.Ser725=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809023	GRCh37/hg19 1p13.3(chr1:110662135-111401322)x3	KCNA10, KCNA2 +7 more	Copy number gain	not provided	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 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 1690592	NM_001010898.4(SLC6A17):c.1567T>C (p.Phe523Leu)	SLC6A17 (F523L)	Single nucleotide variant (missense variant)	See cases	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 1338695	NM_001010898.4(SLC6A17):c.1174G>A (p.Val392Ile)	SLC6A17 (V392I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1337259	NM_001010898.4(SLC6A17):c.1806C>T (p.Ile602=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1336151	NM_001010898.4(SLC6A17):c.696C>T (p.Leu232=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 +1 more	GBenign
Select item 1333111	NM_001010898.4(SLC6A17):c.168T>C (p.Asp56=)	SLC6A17, SLC6A17-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1131812	NM_001010898.4(SLC6A17):c.2134C>T (p.Arg712Cys)	SLC6A17 (R712C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1131475	NM_001010898.4(SLC6A17):c.1876G>A (p.Val626Ile)	SLC6A17 (V626I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1119707	NM_001010898.4(SLC6A17):c.1541G>A (p.Arg514His)	SLC6A17 (R514H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	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 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 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 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 791806	NM_001010898.4(SLC6A17):c.2154G>C (p.Leu718=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 774397	NM_001010898.4(SLC6A17):c.327C>T (p.Ile109=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765440	NM_001010898.4(SLC6A17):c.726C>T (p.Val242=)	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 748157	NM_001010898.4(SLC6A17):c.672C>T (p.Asn224=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746398	NM_001010898.4(SLC6A17):c.925T>C (p.Leu309=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 738995	NM_001010898.4(SLC6A17):c.1029G>A (p.Thr343=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736353	NM_001010898.4(SLC6A17):c.1545C>T (p.Ser515=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724078	NM_001010898.4(SLC6A17):c.2145C>T (p.Ser715=)	SLC6A17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723416	NM_001010898.4(SLC6A17):c.286+10A>G	SLC6A17, SLC6A17-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 713882	NM_001010898.4(SLC6A17):c.697G>A (p.Val233Met)	SLC6A17 (V233M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	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 436767	NM_001010898.4(SLC6A17):c.1941C>G (p.Gly647=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 436766	NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met)	SLC6A17 (V575M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 436765	NM_001010898.4(SLC6A17):c.1287C>T (p.Asp429=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified +2 more	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 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 436762	NM_001010898.4(SLC6A17):c.525G>A (p.Pro175=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 436761	NM_001010898.4(SLC6A17):c.303C>A (p.Pro101=)	SLC6A17	Single nucleotide variant (synonymous variant)	not specified	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 207864	NM_001010898.4(SLC6A17):c.2021G>A (p.Arg674His)	SLC6A17 (R674H)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
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 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 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +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 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 98