ClinVar for Gene (Select 6536) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341411	NM_001024845.3(SLC6A9):c.1537-1_1538dup	SLC6A9	Duplication (intron variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 3341410	NM_001024845.3(SLC6A9):c.1274C>A (p.Thr425Asn)	SLC6A9 (T314N +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 3320170	NM_001024845.3(SLC6A9):c.706G>C (p.Val236Leu)	SLC6A9 (V309L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320167	NM_001024845.3(SLC6A9):c.1774C>T (p.Arg592Cys)	SLC6A9 (R592C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253363	NM_001024845.3(SLC6A9):c.292G>T (p.Val98Phe)	SLC6A9 (V102F +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3247692	NC_000001.10:g.(?_44201934)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3165501	NM_001024845.3(SLC6A9):c.181G>A (p.Gly61Arg)	SLC6A9 (G61R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3165499	NM_001024845.3(SLC6A9):c.1673G>A (p.Arg558Gln)	SLC6A9 (R537Q +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3165498	NM_001024845.3(SLC6A9):c.1642G>A (p.Val548Ile)	SLC6A9 (V437I +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3165497	NM_001024845.3(SLC6A9):c.1055T>C (p.Leu352Pro)	SLC6A9 (L356P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165496	NM_001024845.3(SLC6A9):c.31-807C>A	SLC6A9 (L41M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055410	NM_001024845.3(SLC6A9):c.-7C>T	SLC6A9	Single nucleotide variant (5 prime UTR variant)	SLC6A9-related disorder	GBenign
Select item 3052075	NM_001024845.3(SLC6A9):c.-4C>T	SLC6A9	Single nucleotide variant (5 prime UTR variant)	SLC6A9-related disorder	GLikely benign
Select item 3035479	NM_001024845.3(SLC6A9):c.417G>A (p.Thr139=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	SLC6A9-related disorder	GLikely benign
Select item 3031017	NM_001024845.3(SLC6A9):c.516C>T (p.Ala172=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	SLC6A9-related disorder	GLikely benign
Select item 3014873	NM_001024845.3(SLC6A9):c.1380C>T (p.Ser460=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 3001326	NM_001024845.3(SLC6A9):c.1200+17G>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2912812	NM_001024845.3(SLC6A9):c.31-682C>G	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2909902	NM_001024845.3(SLC6A9):c.1437G>C (p.Gly479=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2892732	NM_001024845.3(SLC6A9):c.31-835G>A	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2885433	NM_001024845.3(SLC6A9):c.49G>A (p.Glu17Lys)	SLC6A9 (E36K +2 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2881302	NM_001024845.3(SLC6A9):c.1537-6G>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2873969	NM_001024845.3(SLC6A9):c.963-17G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2872263	NM_001024845.3(SLC6A9):c.450C>G (p.Pro150=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2840254	NM_001024845.3(SLC6A9):c.1537-14C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2815477	NM_001024845.3(SLC6A9):c.1053C>T (p.His351=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2808298	NM_001024845.3(SLC6A9):c.1785C>T (p.Pro595=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2788542	NM_001024845.3(SLC6A9):c.1887G>A (p.Gln629=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2781958	NM_001024845.3(SLC6A9):c.31-6157A>G	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2767009	NM_001024845.3(SLC6A9):c.724-16A>G	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2766683	NM_001024845.3(SLC6A9):c.31-757C>G	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2715537	NM_001024845.3(SLC6A9):c.903C>T (p.Cys301=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2714590	NM_001024845.3(SLC6A9):c.319+13C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2696259	NM_001024845.3(SLC6A9):c.31-736C>T	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638766	NM_001024845.3(SLC6A9):c.31-805G>A	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638765	NM_001024845.3(SLC6A9):c.483C>T (p.Asp161=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2635524	NM_001024845.3(SLC6A9):c.1833C>A (p.His611Gln)	SLC6A9 (H443Q +7 more)	Single nucleotide variant (missense variant +1 more)	SLC6A9-related disorder	GUncertain significance
Select item 2634075	NM_001024845.3(SLC6A9):c.1403G>C (p.Cys468Ser)	SLC6A9 (C357S +6 more)	Single nucleotide variant (missense variant +1 more)	SLC6A9-related disorder	GUncertain significance
Select item 2615537	NM_001024845.3(SLC6A9):c.1824G>C (p.Gln608His)	SLC6A9 (Q440H +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614092	NM_001024845.3(SLC6A9):c.31-6224A>G	SLC6A9 (D22G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2613343	NM_001024845.3(SLC6A9):c.1489C>T (p.Leu497Phe)	SLC6A9 (L386F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2581302	NM_001024845.3(SLC6A9):c.31-764_31-763del	SLC6A9 (E55fs)	Microsatellite (frameshift variant +1 more)	Atypical glycine encephalopathy	GPathogenic
Select item 2573356	NM_001024845.3(SLC6A9):c.1536+1G>A	SLC6A9	Single nucleotide variant (splice donor variant)	Atypical glycine encephalopathy	GLikely pathogenic
Select item 2538075	NM_001024845.3(SLC6A9):c.484G>A (p.Ala162Thr)	SLC6A9 (A162T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532077	NM_001024845.3(SLC6A9):c.249G>A (p.Met83Ile)	SLC6A9 (M156I +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2436072	NM_001024845.3(SLC6A9):c.737C>T (p.Thr246Met)	SLC6A9 (T135M +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2425558	NC_000001.10:g.(?_44360035)_(44482805_?)dup	ARTN, ATP6V0B +6 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2421052	NM_001024845.3(SLC6A9):c.31-6221G>A	SLC6A9 (A11T +1 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2409177	NM_001024845.3(SLC6A9):c.1880G>A (p.Arg627His)	SLC6A9 (R606H +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404325	NM_001024845.3(SLC6A9):c.31-743A>G	SLC6A9 (H62R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391134	NM_001024845.3(SLC6A9):c.472G>C (p.Gly158Arg)	SLC6A9 (G158R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382875	NM_001024845.3(SLC6A9):c.1609G>A (p.Val537Met)	SLC6A9 (V541M +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2366306	NM_001024845.3(SLC6A9):c.701G>A (p.Arg234Gln)	SLC6A9 (R123Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267611	NM_001024845.3(SLC6A9):c.388G>A (p.Ala130Thr)	SLC6A9 (A149T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259841	NM_001024845.3(SLC6A9):c.262G>A (p.Gly88Ser)	SLC6A9 (G161S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258942	NM_001024845.3(SLC6A9):c.1735A>G (p.Arg579Gly)	SLC6A9 (R468G +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252501	NM_001024845.3(SLC6A9):c.964G>A (p.Asp322Asn)	SLC6A9 (D211N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214045	NM_001024845.3(SLC6A9):c.1064A>T (p.Asp355Val)	SLC6A9 (D290V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208105	NM_001024845.3(SLC6A9):c.784G>A (p.Val262Met)	SLC6A9 (V151M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2200280	NM_001024845.3(SLC6A9):c.1335+12G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2197932	NM_001024845.3(SLC6A9):c.1809C>T (p.Asp603=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2196374	NM_001024845.3(SLC6A9):c.361A>G (p.Ile121Val)	SLC6A9 (I121V +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2195999	NM_001024845.3(SLC6A9):c.31-6234G>A	SLC6A9 (A19T)	Single nucleotide variant (synonymous variant +3 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2194008	NM_001024845.3(SLC6A9):c.1537-16C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2193589	NM_001024845.3(SLC6A9):c.723+10C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2177709	NM_001024845.3(SLC6A9):c.1200+16C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2173596	NM_001024845.3(SLC6A9):c.261C>T (p.Phe87=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2171229	NM_001024845.3(SLC6A9):c.780C>T (p.Arg260=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2171173	NM_001024845.3(SLC6A9):c.1894C>T (p.Arg632Trp)	SLC6A9 (R567W +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2166260	NM_001024845.3(SLC6A9):c.962+19G>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2163710	NM_001024845.3(SLC6A9):c.990C>T (p.Asn330=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2163020	NM_001024845.3(SLC6A9):c.492C>A (p.Asn164Lys)	SLC6A9 (N53K +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2162295	NM_001024845.3(SLC6A9):c.579G>C (p.Glu193Asp)	SLC6A9 (E212D +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2161972	NM_001024845.3(SLC6A9):c.1060G>A (p.Val354Met)	SLC6A9 (V289M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161677	NM_001024845.3(SLC6A9):c.31-6212A>G	SLC6A9 (Q26R +1 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2159637	NM_001024845.3(SLC6A9):c.1862G>A (p.Gly621Asp)	SLC6A9 (G625D +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy +1 more	GUncertain significance
Select item 2158865	NM_001024845.3(SLC6A9):c.1436-11dup	SLC6A9	Duplication (intron variant)	Atypical glycine encephalopathy	GBenign
Select item 2158328	NM_001024845.3(SLC6A9):c.962+13T>C	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2153590	NM_001024845.3(SLC6A9):c.31-6245G>A	SLC6A9 (R15Q +1 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2151578	NM_001024845.3(SLC6A9):c.329A>G (p.Tyr110Cys)	SLC6A9 (Y183C +5 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2150567	NM_001024845.3(SLC6A9):c.188-7C>G	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GUncertain significance
Select item 2149203	NM_001024845.3(SLC6A9):c.31-8C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2145201	NM_001024845.3(SLC6A9):c.723+12T>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2143978	NM_001024845.3(SLC6A9):c.132C>T (p.Ala44=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2141577	NM_001024845.3(SLC6A9):c.1656C>T (p.Pro552=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2140965	NM_001024845.3(SLC6A9):c.1875C>T (p.Ser625=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GBenign
Select item 2139221	NM_001024845.3(SLC6A9):c.1435+19G>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2139167	NM_001024845.3(SLC6A9):c.1244T>C (p.Val415Ala)	SLC6A9 (V415A +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2113207	NM_001024845.3(SLC6A9):c.31-6206G>A	SLC6A9 (A16T +1 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2108331	NM_001024845.3(SLC6A9):c.1787C>T (p.Thr596Ile)	SLC6A9 (T600I +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2106681	NM_001024845.3(SLC6A9):c.449C>T (p.Pro150Leu)	SLC6A9 (P154L +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2104022	NM_001024845.3(SLC6A9):c.31-674G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GUncertain significance
Select item 2099475	NM_001024845.3(SLC6A9):c.1871_1877del (p.Gly624fs)	SLC6A9 (G559fs +7 more)	Deletion (frameshift variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2095025	NM_001024845.3(SLC6A9):c.31-765G>C	SLC6A9 (E55Q)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2085730	NM_001024845.3(SLC6A9):c.1865G>T (p.Ser622Ile)	SLC6A9 (S641I +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2084413	NM_001024845.3(SLC6A9):c.573C>T (p.Pro191=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2081915	NM_001024845.3(SLC6A9):c.31-683C>G	SLC6A9 (A82G)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2079828	NM_001024845.3(SLC6A9):c.1028C>T (p.Ser343Phe)	SLC6A9 (S278F +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance

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