ClinVar for MedGen (Select 387782) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065478	NM_004170.6(SLC1A1):c.484-2A>G	SLC1A1	Single nucleotide variant (splice acceptor variant)	Dicarboxylic aminoaciduria	GLikely pathogenic
Select item 1034055	NM_004170.6(SLC1A1):c.768-4C>G	SLC1A1	Single nucleotide variant (intron variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 976601	NM_004170.6(SLC1A1):c.173T>A (p.Ile58Asn)	SLC1A1 (I58N)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 976565	NM_004170.6(SLC1A1):c.398C>A (p.Thr133Asn)	SLC1A1 (T133N)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 976564	NM_004170.6(SLC1A1):c.274C>A (p.Leu92Met)	SLC1A1 (L92M)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 976563	NM_004170.6(SLC1A1):c.262G>A (p.Gly88Arg)	SLC1A1 (G88R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 930648	NM_004170.6(SLC1A1):c.875+8A>G	SLC1A1	Single nucleotide variant (intron variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 915208	NM_004170.6(SLC1A1):c.*1812T>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 915207	NM_004170.6(SLC1A1):c.*1809T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 915206	NM_004170.6(SLC1A1):c.*1805A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 915181	NM_004170.6(SLC1A1):c.*842G>T	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 915180	NM_004170.6(SLC1A1):c.*828G>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 915179	NM_004170.6(SLC1A1):c.*767A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 915178	NM_004170.6(SLC1A1):c.*673G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 915177	NM_004170.6(SLC1A1):c.*671A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913972	NM_004170.6(SLC1A1):c.*1784G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GLikely benign
Select item 913971	NM_004170.6(SLC1A1):c.*1516G>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GLikely benign
Select item 913970	NM_004170.6(SLC1A1):c.*1504T>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913936	NM_004170.6(SLC1A1):c.*591G>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913935	NM_004170.6(SLC1A1):c.*570G>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913934	NM_004170.6(SLC1A1):c.*567T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913933	NM_004170.6(SLC1A1):c.*526C>T	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GLikely benign
Select item 913932	NM_004170.6(SLC1A1):c.*475A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GLikely benign
Select item 913890	NM_004170.6(SLC1A1):c.1071C>T (p.Phe357=)	SLC1A1	Single nucleotide variant (synonymous variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913889	NM_004170.6(SLC1A1):c.961G>A (p.Ala321Thr)	SLC1A1 (A321T)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913888	NM_004170.6(SLC1A1):c.944G>A (p.Arg315Gln)	SLC1A1 (R315Q)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913887	NM_004170.6(SLC1A1):c.920T>C (p.Ile307Thr)	SLC1A1 (I307T)	Single nucleotide variant (missense variant)	SLC1A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 913585	NM_004170.6(SLC1A1):c.*1393C>T	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913584	NM_004170.6(SLC1A1):c.*1228C>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913583	NM_004170.6(SLC1A1):c.*1154A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913550	NM_004170.6(SLC1A1):c.*406G>T	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913549	NM_004170.6(SLC1A1):c.*253A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913548	NM_004170.6(SLC1A1):c.*188G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GLikely benign
Select item 913547	NM_004170.6(SLC1A1):c.*175G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913511	NM_004170.6(SLC1A1):c.807G>A (p.Lys269=)	SLC1A1	Single nucleotide variant (synonymous variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913510	NM_004170.6(SLC1A1):c.789G>C (p.Leu263Phe)	SLC1A1 (L263F)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria +1 more	GUncertain significance
Select item 913509	NM_004170.6(SLC1A1):c.767+7A>C	SLC1A1	Single nucleotide variant (intron variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913508	NM_004170.6(SLC1A1):c.583-11T>G	SLC1A1	Single nucleotide variant (intron variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913507	NM_004170.6(SLC1A1):c.578C>T (p.Ser193Phe)	SLC1A1 (S193F)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 913457	NM_004170.6(SLC1A1):c.91+10G>A	SLC1A1	Single nucleotide variant (intron variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 912466	NM_004170.6(SLC1A1):c.*853G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 912465	NM_004170.6(SLC1A1):c.*852C>T	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 912464	NM_004170.6(SLC1A1):c.*849G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 912436	NM_004170.6(SLC1A1):c.1346T>C (p.Met449Thr)	SLC1A1 (M449T)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria +1 more	GUncertain significance
Select item 912435	NM_004170.6(SLC1A1):c.1302C>A (p.Thr434=)	SLC1A1	Single nucleotide variant (synonymous variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 912382	NM_004170.6(SLC1A1):c.519C>T (p.Ser173=)	SLC1A1	Single nucleotide variant (synonymous variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 912381	NM_004170.6(SLC1A1):c.497G>A (p.Arg166His)	SLC1A1 (R166H)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 912380	NM_004170.6(SLC1A1):c.484-12T>A	SLC1A1	Single nucleotide variant (intron variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 912379	NM_004170.6(SLC1A1):c.472T>G (p.Cys158Gly)	SLC1A1 (C158G)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 912330	NM_004170.6(SLC1A1):c.73G>C (p.Val25Leu)	SLC1A1 (V25L)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 790061	NM_004170.6(SLC1A1):c.195C>G (p.Leu65=)	SLC1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 733732	NM_004170.6(SLC1A1):c.750C>T (p.Ile250=)	SLC1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 733731	NM_004170.6(SLC1A1):c.261C>T (p.Ser87=)	SLC1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 713810	NM_004170.6(SLC1A1):c.1200G>A (p.Thr400=)	SLC1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632543	NM_004170.6(SLC1A1):c.1194-1G>C	SLC1A1	Single nucleotide variant (splice acceptor variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 620038	NM_004170.6(SLC1A1):c.860C>G (p.Ala287Gly)	SLC1A1 (A287G)	Single nucleotide variant (missense variant)	Schizophrenia 18 +1 more	GLikely benign
Select item 367093	NM_004170.6(SLC1A1):c.*1621T>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367092	NM_004170.6(SLC1A1):c.*1603A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GBenign
Select item 367091	NM_004170.6(SLC1A1):c.*1597T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367090	NM_004170.6(SLC1A1):c.*1588A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GBenign
Select item 367089	NM_004170.6(SLC1A1):c.*1545T>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367088	NM_004170.6(SLC1A1):c.*1485A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367087	NM_004170.6(SLC1A1):c.*1374T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367086	NM_004170.6(SLC1A1):c.*1361T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GBenign
Select item 367085	NM_004170.6(SLC1A1):c.*1344T>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367084	NM_004170.6(SLC1A1):c.*1250G>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GBenign
Select item 367083	NM_004170.6(SLC1A1):c.*1215T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367082	NM_004170.6(SLC1A1):c.*1100T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367081	NM_004170.6(SLC1A1):c.*1076A>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367080	NM_004170.6(SLC1A1):c.*1063A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367079	NM_004170.6(SLC1A1):c.*987T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367078	NM_004170.6(SLC1A1):c.*948G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367077	NM_004170.6(SLC1A1):c.*887T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367076	NM_004170.6(SLC1A1):c.*726G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367075	NM_004170.6(SLC1A1):c.*719T>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367074	NM_004170.6(SLC1A1):c.*675A>G	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367073	NM_004170.6(SLC1A1):c.*657AT[11]	SLC1A1	Microsatellite (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367072	NM_004170.6(SLC1A1):c.*657AT[9]	SLC1A1	Microsatellite (3 prime UTR variant)	Dicarboxylic aminoaciduria	GBenign
Select item 367071	NM_004170.6(SLC1A1):c.*629C>T	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367070	NM_004170.6(SLC1A1):c.*614T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367069	NM_004170.6(SLC1A1):c.*438T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367068	NM_004170.6(SLC1A1):c.*425T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367067	NM_004170.6(SLC1A1):c.*366T>C	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GBenign
Select item 367066	NM_004170.6(SLC1A1):c.*355A>T	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367065	NM_004170.6(SLC1A1):c.*161G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367064	NM_004170.6(SLC1A1):c.*111G>T	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367063	NM_004170.6(SLC1A1):c.*43C>T	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367062	NM_004170.6(SLC1A1):c.*2G>A	SLC1A1	Single nucleotide variant (3 prime UTR variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367061	NM_004170.6(SLC1A1):c.1521C>A (p.Gly507=)	SLC1A1	Single nucleotide variant (synonymous variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367060	NM_004170.6(SLC1A1):c.1483G>A (p.Glu495Lys)	SLC1A1 (E495K)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367059	NM_004170.6(SLC1A1):c.1398C>T (p.Ser466=)	SLC1A1	Single nucleotide variant (synonymous variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367058	NM_004170.6(SLC1A1):c.1254C>G (p.Thr418=)	SLC1A1	Single nucleotide variant (synonymous variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367057	NM_004170.6(SLC1A1):c.1231G>A (p.Val411Met)	SLC1A1 (V411M)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367056	NM_004170.6(SLC1A1):c.1227T>C (p.Ala409=)	SLC1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 367055	NM_004170.6(SLC1A1):c.1194-10G>A	SLC1A1	Single nucleotide variant (intron variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367054	NM_004170.6(SLC1A1):c.1193+11G>A	SLC1A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 367053	NM_004170.6(SLC1A1):c.1150T>C (p.Leu384=)	SLC1A1	Single nucleotide variant (synonymous variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367052	NM_004170.6(SLC1A1):c.1110T>C (p.Thr370=)	SLC1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 367051	NM_004170.6(SLC1A1):c.1087G>A (p.Ala363Thr)	SLC1A1 (A363T)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 367050	NM_004170.6(SLC1A1):c.893T>C (p.Ile298Thr)	SLC1A1 (I298T)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance

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