6532[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 889138	NM_001045.6(SLC6A4):c.*3891A>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889813	NM_001045.6(SLC6A4):c.*3831T>C	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 889815	NM_001045.6(SLC6A4):c.*3318T>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 889816	NM_001045.6(SLC6A4):c.*3227G>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 889818	NM_001045.6(SLC6A4):c.*2970G>A	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 889820	NM_001045.6(SLC6A4):c.*2836C>T	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 891368	NM_001045.6(SLC6A4):c.*2495G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891369	NM_001045.6(SLC6A4):c.*2412G>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
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 891371	NM_001045.6(SLC6A4):c.*2388C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GBenign
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 891373	NM_001045.6(SLC6A4):c.*2192G>C	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 322503	NM_001045.6(SLC6A4):c.*2112C>T	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 322504	NM_001045.6(SLC6A4):c.*2091dup	SLC6A4	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 322505	NM_001045.6(SLC6A4):c.*2091del	SLC6A4	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 322506	NM_001045.6(SLC6A4):c.*2085A>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322507	NM_001045.6(SLC6A4):c.*2019C>T	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 891621	NM_001045.6(SLC6A4):c.*1900T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322508	NM_001045.6(SLC6A4):c.*1767G>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder +1 more	GUncertain significance
Select item 322509	NM_001045.6(SLC6A4):c.*1748C>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 322510	NM_001045.6(SLC6A4):c.*1665T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GLikely benign
Select item 889205	NM_001045.6(SLC6A4):c.*1658T>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 322511	NM_001045.6(SLC6A4):c.*1576C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322512	NM_001045.6(SLC6A4):c.*1329G>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 889889	NM_001045.6(SLC6A4):c.*1211G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322513	NM_001045.6(SLC6A4):c.*1179G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322514	NM_001045.6(SLC6A4):c.*1178C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322515	NM_001045.6(SLC6A4):c.*1127T>C	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 891427	NM_001045.6(SLC6A4):c.*1060G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322516	NM_001045.6(SLC6A4):c.*1029C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322517	NM_001045.6(SLC6A4):c.*995C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GLikely benign
Select item 891428	NM_001045.6(SLC6A4):c.*906G>A	SLC6A4	Single nucleotide variant (3 prime UTR 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 322518	NM_001045.6(SLC6A4):c.*670T>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 322520	NM_001045.6(SLC6A4):c.*597C>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322519	NM_001045.6(SLC6A4):c.*597C>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GLikely benign
Select item 891681	NM_001045.6(SLC6A4):c.*564T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 891682	NM_001045.6(SLC6A4):c.*538A>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322521	NM_001045.6(SLC6A4):c.*463T>G	SLC6A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 322522	NM_001045.6(SLC6A4):c.*442A>T	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322523	NM_001045.6(SLC6A4):c.*441T>C	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322524	NM_001045.6(SLC6A4):c.*433G>A	SLC6A4	Single nucleotide variant (3 prime UTR variant)	Behavior disorder	GUncertain significance
Select item 322525	NM_001045.6(SLC6A4):c.*407G>A	SLC6A4	Single nucleotide variant (3 prime UTR 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 322526	NM_001045.6(SLC6A4):c.*350G>A	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 322527	NM_001045.6(SLC6A4):c.*242G>A	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 889948	NM_001045.6(SLC6A4):c.*162C>T	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 322528	NM_001045.6(SLC6A4):c.*97G>C	SLC6A4	Single nucleotide variant (3 prime UTR 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 3165467	NM_001045.6(SLC6A4):c.1870G>T (p.Asp624Tyr)	SLC6A4 (D624Y)	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 3049771	NM_001045.6(SLC6A4):c.1818+4C>T	SLC6A4	Single nucleotide variant (intron variant)	SLC6A4-related disorder	GLikely benign
Select item 322529	NM_001045.6(SLC6A4):c.1815A>C (p.Lys605Asn)	SLC6A4 (K605N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 322530	NM_001045.6(SLC6A4):c.1782T>C (p.Ala594=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	GUncertain significance
Select item 3445030	NM_001045.6(SLC6A4):c.1759A>G (p.Ile587Val)	SLC6A4 (I587V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1300132	NM_001045.6(SLC6A4):c.1745dup (p.Thr583fs)	SLC6A4 (T583fs)	Duplication (frameshift variant)	Obsessive-compulsive disorder	GLikely pathogenic
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 322531	NM_001045.6(SLC6A4):c.1572C>T (p.Asp524=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	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 891505	NM_001045.6(SLC6A4):c.1514C>T (p.Ala505Val)	SLC6A4 (A505V)	Single nucleotide variant (missense variant)	Behavior disorder	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 891506	NM_001045.6(SLC6A4):c.1395C>T (p.Phe465=)	SLC6A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 891508	NM_001045.6(SLC6A4):c.1390C>T (p.Arg464Trp)	SLC6A4 (R464W)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
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 891752	NM_001045.6(SLC6A4):c.1368C>T (p.His456=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	GLikely benign
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 2545495	NM_001045.6(SLC6A4):c.1319T>A (p.Phe440Tyr)	SLC6A4 (F440Y)	Single nucleotide variant (missense variant)	not specified	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 891754	NM_001045.6(SLC6A4):c.1317G>C (p.Thr439=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior disorder	GUncertain significance
Select item 322532	NM_001045.6(SLC6A4):c.1317G>A (p.Thr439=)	SLC6A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 12935	NM_001045.6(SLC6A4):c.1273A>G (p.Ile425Val)	SLC6A4 (I425V)	Single nucleotide variant (missense variant)	Behavior disorder	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 322533	NM_001045.6(SLC6A4):c.1257G>A (p.Ala419=)	SLC6A4	Single nucleotide variant (synonymous variant)	Behavior 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 322534	NM_001045.6(SLC6A4):c.1205-9C>T	SLC6A4	Single nucleotide variant (intron variant)	Behavior disorder	GUncertain significance
Select item 322535	NM_001045.6(SLC6A4):c.1149C>T (p.Leu383=)	LOC130060631, SLC6A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 3165464	NM_001045.6(SLC6A4):c.1070G>A (p.Cys357Tyr)	SLC6A4 (C357Y)	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 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 889327	NM_001045.6(SLC6A4):c.878C>T (p.Ser293Phe)	SLC6A4 (S293F)	Single nucleotide variant (missense variant)	Behavior disorder	GUncertain significance
Select item 322536	NM_001045.6(SLC6A4):c.847G>T (p.Val283Leu)	SLC6A4 (V283L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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