ClinVar for MedGen (Select 934910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (intron 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 (intron 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 (intron variant +1 more)	Atypical glycine encephalopathy	GLikely benign
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 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 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 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 (intron 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
Select item 2077192	NM_001024845.3(SLC6A9):c.744G>A (p.Thr248=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2075770	NM_001024845.3(SLC6A9):c.622G>A (p.Gly208Arg)	SLC6A9 (G208R +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2074820	NM_001024845.3(SLC6A9):c.187+17G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2072587	NM_001024845.3(SLC6A9):c.1820T>A (p.Val607Asp)	SLC6A9 (V542D +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2070485	NM_001024845.3(SLC6A9):c.133G>A (p.Val45Met)	SLC6A9 (V118M +2 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2070031	NM_001024845.3(SLC6A9):c.1708-5T>C	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 2068008	NM_001024845.3(SLC6A9):c.1434C>T (p.Tyr478=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2065840	NM_001024845.3(SLC6A9):c.31-6243C>T	SLC6A9 (R16W)	Single nucleotide variant (synonymous variant +3 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2065839	NM_001024845.3(SLC6A9):c.1524C>T (p.Pro508=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2063272	NM_001024845.3(SLC6A9):c.1227A>G (p.Thr409=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2060597	NM_001024845.3(SLC6A9):c.408G>A (p.Ser136=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2058070	NM_001024845.3(SLC6A9):c.1007A>G (p.Tyr336Cys)	SLC6A9 (Y225C +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2055792	NM_001024845.3(SLC6A9):c.1002C>T (p.Ser334=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2053846	NM_001024845.3(SLC6A9):c.31-6251A>G	SLC6A9 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 2045427	NM_001024845.3(SLC6A9):c.1176T>C (p.Leu392=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2038750	NM_001024845.3(SLC6A9):c.690C>T (p.Leu230=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 2018590	NM_001024845.3(SLC6A9):c.31-676C>G	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GUncertain significance
Select item 2017709	NM_001024845.3(SLC6A9):c.144C>G (p.Gly48=)	SLC6A9	Single nucleotide variant (synonymous variant +3 more)	Atypical glycine encephalopathy	GLikely benign
Select item 1987730	NM_001024845.3(SLC6A9):c.1891T>G (p.Ser631Ala)	SLC6A9 (S610A +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1983883	NM_001024845.3(SLC6A9):c.1682G>A (p.Arg561His)	SLC6A9 (R561H +6 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1980341	NM_001024845.3(SLC6A9):c.962+13T>G	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1974070	NM_001024845.3(SLC6A9):c.1182G>A (p.Leu394=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 1972426	NM_001024845.3(SLC6A9):c.458C>T (p.Thr153Met)	SLC6A9 (T157M +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1968755	NM_001024845.3(SLC6A9):c.963-5A>C	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1963691	NM_001024845.3(SLC6A9):c.31-856G>C	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1963257	NM_001024845.3(SLC6A9):c.220A>G (p.Ile74Val)	SLC6A9 (I53V +4 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1958136	NM_001024845.3(SLC6A9):c.629T>C (p.Phe210Ser)	SLC6A9 (F214S +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1956938	NM_001024845.3(SLC6A9):c.1820T>G (p.Val607Gly)	SLC6A9 (V439G +7 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1945677	NM_001024845.3(SLC6A9):c.1200+5G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GUncertain significance
Select item 1926581	NM_001024845.3(SLC6A9):c.962+14G>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1921295	NM_001024845.3(SLC6A9):c.779G>A (p.Arg260His)	SLC6A9 (R279H +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1919148	NM_001024845.3(SLC6A9):c.1335+16G>A	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1912912	NM_001024845.3(SLC6A9):c.31-6218C>T	SLC6A9 (R12C +1 more)	Single nucleotide variant (missense variant +2 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1908821	NM_001024845.3(SLC6A9):c.1860G>T (p.Val620=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	Atypical glycine encephalopathy	GLikely benign
Select item 1903252	NM_001024845.3(SLC6A9):c.31-825G>A	SLC6A9 (V35I)	Single nucleotide variant (missense variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1902586	NM_001024845.3(SLC6A9):c.31-821A>G	SLC6A9 (Q36R)	Single nucleotide variant (intron variant +1 more)	Atypical glycine encephalopathy	GUncertain significance
Select item 1900433	NM_001024845.3(SLC6A9):c.859-6C>T	SLC6A9	Single nucleotide variant (intron variant)	Atypical glycine encephalopathy	GLikely benign
Select item 1699386	NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs)	SLC6A9 (A398fs +6 more)	Deletion (frameshift variant +1 more)	Atypical glycine encephalopathy	GUncertain significance

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