ClinVar for Gene (Select 6532) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242851	NC_000017.10:g.(?_28524804)_(29624377_?)del	ADAP2, ATAD5 +11 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3165467	NM_001045.6(SLC6A4):c.1870G>T (p.Asp624Tyr)	SLC6A4 (D624Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165466	NM_001045.6(SLC6A4):c.1547A>G (p.Tyr516Cys)	SLC6A4 (Y516C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165465	NM_001045.6(SLC6A4):c.1265T>C (p.Phe422Ser)	SLC6A4 (F422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165464	NM_001045.6(SLC6A4):c.1070G>A (p.Cys357Tyr)	SLC6A4 (C357Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 3049771	NM_001045.6(SLC6A4):c.1818+4C>T	SLC6A4	Single nucleotide variant (intron variant)	SLC6A4-related disorder	GLikely benign
Select item 3047658	NM_001045.6(SLC6A4):c.165G>A (p.Ala55=)	SLC6A4	Single nucleotide variant (synonymous variant)	SLC6A4-related disorder	GLikely benign
Select item 3040244	NM_001045.6(SLC6A4):c.1299G>C (p.Thr433=)	SLC6A4	Single nucleotide variant (synonymous variant)	SLC6A4-related disorder	GLikely benign
Select item 3034406	NM_001045.6(SLC6A4):c.1125G>A (p.Ser375=)	LOC130060631, SLC6A4	Single nucleotide variant (synonymous variant)	SLC6A4-related disorder	GLikely benign
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2545495	NM_001045.6(SLC6A4):c.1319T>A (p.Phe440Tyr)	SLC6A4 (F440Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542184	NM_001045.6(SLC6A4):c.566C>T (p.Ser189Phe)	SLC6A4 (S189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541450	NM_001045.6(SLC6A4):c.836A>G (p.Lys279Arg)	SLC6A4 (K279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540522	NM_001045.6(SLC6A4):c.641C>T (p.Ser214Phe)	SLC6A4 (S214F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2403475	NM_001045.6(SLC6A4):c.1382G>A (p.Arg461His)	SLC6A4 (R461H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389873	NM_001045.6(SLC6A4):c.991G>T (p.Ala331Ser)	SLC6A4 (A331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286506	NM_001045.6(SLC6A4):c.1396G>A (p.Val466Met)	SLC6A4 (V466M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280090	NM_001045.6(SLC6A4):c.1832G>C (p.Ser611Thr)	SLC6A4 (S611T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263752	NM_001045.6(SLC6A4):c.1366C>A (p.His456Asn)	SLC6A4 (H456N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226627	NM_001045.6(SLC6A4):c.1366C>T (p.His456Tyr)	SLC6A4 (H456Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1300132	NM_001045.6(SLC6A4):c.1745dup (p.Thr583fs)	SLC6A4 (T583fs)	Duplication (frameshift variant)	Obsessive-compulsive disorder	GLikely pathogenic
Select item 1031015	NM_001045.6(SLC6A4):c.837+2T>C	SLC6A4	Single nucleotide variant (splice donor variant)	Obsessive-compulsive disorder	GUncertain significance
Select item 891755	NM_001045.6(SLC6A4):c.1238C>T (p.Ala413Val)	SLC6A4 (A413V)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 891754	NM_001045.6(SLC6A4):c.1317G>C (p.Thr439=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	GUncertain significance
Select item 891753	NM_001045.6(SLC6A4):c.1318-11G>A	SLC6A4	Single nucleotide variant (intron variant)	Behavior disorder	GUncertain significance
Select item 891752	NM_001045.6(SLC6A4):c.1368C>T (p.His456=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	GLikely benign
Select item 891682	NM_001045.6(SLC6A4):c.*538A>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891681	NM_001045.6(SLC6A4):c.*564T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891621	NM_001045.6(SLC6A4):c.*1900T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891620	NM_001045.6(SLC6A4):c.*1933T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891619	NM_001045.6(SLC6A4):c.*2094G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891569	NM_001045.6(SLC6A4):c.73G>A (p.Gly25Arg)	SLC6A4 (G25R)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 891568	NM_001045.6(SLC6A4):c.134A>G (p.Asn45Ser)	SLC6A4 (N45S)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 891567	NM_001045.6(SLC6A4):c.178C>T (p.Arg60Trp)	SLC6A4 (R60W)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 891566	NM_001045.6(SLC6A4):c.204C>A (p.Thr68=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	GUncertain significance
Select item 891508	NM_001045.6(SLC6A4):c.1390C>T (p.Arg464Trp)	SLC6A4 (R464W)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 891507	NM_001045.6(SLC6A4):c.1393T>C (p.Phe465Leu)	SLC6A4 (F465L)	Single nucleotide variant (missense variant)	Behavior disorder	GLikely benign
Select item 891506	NM_001045.6(SLC6A4):c.1395C>T (p.Phe465=)	SLC6A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 891505	NM_001045.6(SLC6A4):c.1514C>T (p.Ala505Val)	SLC6A4 (A505V)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 891504	NM_001045.6(SLC6A4):c.1706A>G (p.Asn569Ser)	SLC6A4 (N569S)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 891429	NM_001045.6(SLC6A4):c.*768T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891428	NM_001045.6(SLC6A4):c.*906G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891427	NM_001045.6(SLC6A4):c.*1060G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891426	NM_001045.6(SLC6A4):c.*1123G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891374	NM_001045.6(SLC6A4):c.*2160G>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 891373	NM_001045.6(SLC6A4):c.*2192G>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891372	NM_001045.6(SLC6A4):c.*2353A>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 891371	NM_001045.6(SLC6A4):c.*2388C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GBenign
Select item 891370	NM_001045.6(SLC6A4):c.*2389A>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 891369	NM_001045.6(SLC6A4):c.*2412G>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891368	NM_001045.6(SLC6A4):c.*2495G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891367	NM_001045.6(SLC6A4):c.*2703A>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GLikely benign
Select item 890011	NM_001045.6(SLC6A4):c.393G>A (p.Pro131=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	GUncertain significance
Select item 890010	NM_001045.6(SLC6A4):c.469A>G (p.Ile157Val)	SLC6A4 (I157V)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 890009	NM_001045.6(SLC6A4):c.623A>G (p.Asn208Ser)	SLC6A4 (N208S)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 890008	NM_001045.6(SLC6A4):c.674C>T (p.Thr225Met)	SLC6A4 (T225M)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 890007	NM_001045.6(SLC6A4):c.684T>C (p.Ala228=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	GUncertain significance
Select item 889950	NM_001045.6(SLC6A4):c.*11G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889949	NM_001045.6(SLC6A4):c.*130G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889948	NM_001045.6(SLC6A4):c.*162C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889947	NM_001045.6(SLC6A4):c.*186C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889946	NM_001045.6(SLC6A4):c.*328A>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 889889	NM_001045.6(SLC6A4):c.*1211G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889888	NM_001045.6(SLC6A4):c.*1262A>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889887	NM_001045.6(SLC6A4):c.*1642C>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889820	NM_001045.6(SLC6A4):c.*2836C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889819	NM_001045.6(SLC6A4):c.*2957C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 889818	NM_001045.6(SLC6A4):c.*2970G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889817	NM_001045.6(SLC6A4):c.*3047A>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GLikely benign
Select item 889816	NM_001045.6(SLC6A4):c.*3227G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889815	NM_001045.6(SLC6A4):c.*3318T>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889814	NM_001045.6(SLC6A4):c.*3448G>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 889813	NM_001045.6(SLC6A4):c.*3831T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889383	NM_001045.6(SLC6A4):c.-269C>A	LOC110806262, SLC6A4	Single nucleotide variant (5 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889382	NM_001045.6(SLC6A4):c.-218C>A	SLC6A4	Single nucleotide variant (5 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889329	NM_001045.6(SLC6A4):c.732G>T (p.Gly244=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	GUncertain significance
Select item 889328	NM_001045.6(SLC6A4):c.837+4A>T	SLC6A4	Single nucleotide variant (intron variant)	Behavior disorder	GUncertain significance
Select item 889327	NM_001045.6(SLC6A4):c.878C>T (p.Ser293Phe)	SLC6A4 (S293F)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 889263	NM_001045.6(SLC6A4):c.*359T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889205	NM_001045.6(SLC6A4):c.*1658T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889204	NM_001045.6(SLC6A4):c.*1727C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 889138	NM_001045.6(SLC6A4):c.*3891A>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 786433	NM_001045.6(SLC6A4):c.924T>C (p.Gly308=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder +1 more	GConflicting classifications of pathogenicity
Select item 708975	NM_001045.6(SLC6A4):c.705C>T (p.His235=)	SLC6A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
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 322552	NM_001045.5(SLC6A4):c.-503delC	LOC110806262, SLC6A4	Deletion	Behavior disorder	GUncertain significance
Select item 322551	NM_001045.5(SLC6A4):c.-499G>C	SLC6A4, LOC110806262	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 322550	NM_001045.5(SLC6A4):c.-482T>C	LOC110806262, SLC6A4	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 322549	NM_001045.5(SLC6A4):c.-348A>G	LOC110806262, SLC6A4	Single nucleotide variant	Behavior disorder	GUncertain significance
Select item 322548	NM_001045.5(SLC6A4):c.-307G>A	LOC110806262, SLC6A4	Single nucleotide variant	Behavior disorder	GUncertain significance
Select item 322547	NM_001045.6(SLC6A4):c.-232G>A	LOC110806262, SLC6A4	Single nucleotide variant (5 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322546	NM_001045.6(SLC6A4):c.-185C>A	SLC6A4	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 322545	NM_001045.6(SLC6A4):c.-173C>G	SLC6A4	Single nucleotide variant (5 prime UTR variant)	Behavior disorder	GLikely benign

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