ClinVar for Gene (Select 348932) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165438	NM_182632.3(SLC6A18):c.907G>A (p.Ala303Thr)	SLC6A18 (A303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165437	NM_182632.3(SLC6A18):c.776C>A (p.Thr259Asn)	SLC6A18 (T259N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165436	NM_182632.3(SLC6A18):c.472G>A (p.Val158Met)	SLC6A18 (V158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165435	NM_182632.3(SLC6A18):c.440G>A (p.Gly147Glu)	SLC6A18 (G147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165434	NM_182632.3(SLC6A18):c.338T>A (p.Leu113Gln)	SLC6A18 (L113Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165433	NM_182632.3(SLC6A18):c.265G>A (p.Val89Met)	SLC6A18 (V89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165432	NM_182632.3(SLC6A18):c.220G>A (p.Val74Ile)	SLC6A18 (V74I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165431	NM_182632.3(SLC6A18):c.1820C>T (p.Thr607Met)	SLC6A18 (T607M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165430	NM_182632.3(SLC6A18):c.181G>A (p.Val61Ile)	SLC6A18 (V61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165429	NM_182632.3(SLC6A18):c.1804G>A (p.Asp602Asn)	SLC6A18 (D602N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165428	NM_182632.3(SLC6A18):c.1775C>A (p.Thr592Asn)	SLC6A18 (T592N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165427	NM_182632.3(SLC6A18):c.1733C>T (p.Pro578Leu)	SLC6A18 (P578L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165426	NM_182632.3(SLC6A18):c.1687T>C (p.Tyr563His)	SLC6A18 (Y563H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165425	NM_182632.3(SLC6A18):c.1543T>C (p.Tyr515His)	SLC6A18 (Y515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165424	NM_182632.3(SLC6A18):c.1419T>A (p.Asn473Lys)	SLC6A18 (N473K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165423	NM_182632.3(SLC6A18):c.1328C>A (p.Ala443Asp)	SLC6A18 (A443D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165422	NM_182632.3(SLC6A18):c.1184A>G (p.His395Arg)	SLC6A18 (H395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165421	NM_182632.3(SLC6A18):c.1169C>T (p.Thr390Met)	SLC6A18 (T390M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165420	NM_182632.3(SLC6A18):c.1061A>G (p.Asn354Ser)	SLC6A18 (N354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	ADAMTS16, ADCY2 +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655273	NM_182632.3(SLC6A18):c.1383G>A (p.Leu461=)	SLC6A18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655272	NM_182632.3(SLC6A18):c.1335T>C (p.Thr445=)	SLC6A18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655271	NM_182632.3(SLC6A18):c.588G>A (p.Met196Ile)	SLC6A18 (M196I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621528	NM_182632.3(SLC6A18):c.1883G>A (p.Arg628His)	SLC6A18 (R628H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606265	NM_182632.3(SLC6A18):c.866C>T (p.Ala289Val)	SLC6A18 (A289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591946	NM_182632.3(SLC6A18):c.247C>T (p.Arg83Trp)	SLC6A18 (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2570367	NM_182632.3(SLC6A18):c.1681A>C (p.Lys561Gln)	SLC6A18 (K561Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568697	NM_182632.3(SLC6A18):c.1227G>A (p.Met409Ile)	SLC6A18 (M409I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543292	NM_182632.3(SLC6A18):c.535A>G (p.Ile179Val)	SLC6A18 (I179V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542909	NM_182632.3(SLC6A18):c.1262C>A (p.Thr421Asn)	SLC6A18 (T421N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539841	NM_182632.3(SLC6A18):c.1879A>T (p.Met627Leu)	SLC6A18 (M627L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539840	NM_182632.3(SLC6A18):c.1273G>A (p.Val425Ile)	SLC6A18 (V425I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523126	NM_182632.3(SLC6A18):c.1030G>A (p.Asp344Asn)	SLC6A18 (D344N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496573	NM_182632.3(SLC6A18):c.769G>A (p.Ala257Thr)	SLC6A18 (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496485	NM_182632.3(SLC6A18):c.877G>A (p.Ala293Thr)	SLC6A18 (A293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481621	NM_182632.3(SLC6A18):c.271A>T (p.Thr91Ser)	SLC6A18 (T91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479002	NM_182632.3(SLC6A18):c.1258G>A (p.Gly420Arg)	SLC6A18 (G420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459154	NM_182632.3(SLC6A18):c.490C>T (p.Arg164Trp)	SLC6A18 (R164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457853	NM_182632.3(SLC6A18):c.1282C>A (p.Pro428Thr)	SLC6A18 (P428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457687	NM_182632.3(SLC6A18):c.1264G>A (p.Val422Met)	SLC6A18 (V422M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2427645	NC_000005.9:g.(?_1201766)_(1443312_?)dup	CLPTM1L, SLC6A18 +3 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2427644	NC_000005.9:g.(?_482643)_(1895829_?)del	BRD9, CEP72 +16 more	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 2412541	NM_182632.3(SLC6A18):c.1120T>C (p.Phe374Leu)	SLC6A18 (F374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409099	NM_182632.3(SLC6A18):c.55C>T (p.Pro19Ser)	SLC6A18 (P19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407944	NM_182632.3(SLC6A18):c.127C>T (p.Arg43Trp)	SLC6A18 (R43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405468	NM_182632.3(SLC6A18):c.505A>T (p.Ile169Phe)	SLC6A18 (I169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398153	NM_182632.3(SLC6A18):c.755G>A (p.Arg252Gln)	SLC6A18 (R252Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398152	NM_182632.3(SLC6A18):c.1678G>A (p.Glu560Lys)	SLC6A18 (E560K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395869	NM_182632.3(SLC6A18):c.1096C>G (p.Leu366Val)	SLC6A18 (L366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389973	NM_182632.3(SLC6A18):c.302G>C (p.Gly101Ala)	SLC6A18 (G101A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378339	NM_182632.3(SLC6A18):c.1667C>T (p.Pro556Leu)	SLC6A18 (P556L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376711	NM_182632.3(SLC6A18):c.908C>T (p.Ala303Val)	SLC6A18 (A303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372615	NM_182632.3(SLC6A18):c.1571G>A (p.Ser524Asn)	SLC6A18 (S524N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372375	NM_182632.3(SLC6A18):c.424G>A (p.Asp142Asn)	SLC6A18 (D142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369519	NM_182632.3(SLC6A18):c.580G>A (p.Val194Met)	SLC6A18 (V194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361111	NM_182632.3(SLC6A18):c.1502G>A (p.Cys501Tyr)	SLC6A18 (C501Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358461	NM_182632.3(SLC6A18):c.1063G>A (p.Ala355Thr)	SLC6A18 (A355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352554	NM_182632.3(SLC6A18):c.754C>T (p.Arg252Trp)	SLC6A18 (R252W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340644	NM_182632.3(SLC6A18):c.1864C>A (p.Arg622Ser)	SLC6A18 (R622S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336444	NM_182632.3(SLC6A18):c.1402C>A (p.Leu468Met)	SLC6A18 (L468M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330313	NM_182632.3(SLC6A18):c.32C>T (p.Ala11Val)	SLC6A18 (A11V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298583	NM_182632.3(SLC6A18):c.1823A>G (p.Asp608Gly)	SLC6A18 (D608G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295252	NM_182632.3(SLC6A18):c.993C>G (p.Ile331Met)	SLC6A18 (I331M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291830	NM_182632.3(SLC6A18):c.1487G>A (p.Gly496Glu)	SLC6A18 (G496E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288089	NM_182632.3(SLC6A18):c.1525G>A (p.Gly509Arg)	SLC6A18 (G509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274979	NM_182632.3(SLC6A18):c.142T>C (p.Cys48Arg)	SLC6A18 (C48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260826	NM_182632.3(SLC6A18):c.1189C>A (p.Pro397Thr)	SLC6A18 (P397T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252452	NM_182632.3(SLC6A18):c.199G>A (p.Glu67Lys)	SLC6A18 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224737	NM_182632.3(SLC6A18):c.1495C>T (p.Arg499Trp)	SLC6A18 (R499W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212127	NM_182632.3(SLC6A18):c.830G>A (p.Ser277Asn)	SLC6A18 (S277N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808992	GRCh37/hg19 5p15.33(chr5:676464-1274326)x3	BRD9, NKD2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808819	GRCh37/hg19 5p15.33(chr5:1097653-1260917)x3	SLC12A7, SLC6A18 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1711872	GRCh37/hg19 5p15.33(chr5:113576-2027194)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GPathogenic
Select item 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1705881	GRCh37/hg19 5p15.33(chr5:26141-2537457)x3	NDUFS6, NKD2 +24 more	Copy number gain	Global developmental delay	GUncertain significance
Select item 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1459245	NC_000005.9:g.(?_218471)_(1895829_?)del	AHRR, BRD9 +21 more	Deletion	Parkinsonism-dystonia, infantile	GPathogenic
Select item 1341193	GRCh37/hg19 5p15.33(chr5:862397-1288682)x3	BRD9, NKD2 +5 more	Copy number gain	not provided	GUncertain significance

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