4433[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 3021253	NM_002080.4(GOT2):c.1278C>T (p.His426=)	GOT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441781	NM_002080.4(GOT2):c.1256G>A (p.Gly419Asp)	GOT2 (G376D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 82	GUncertain significance
Select item 2176327	NM_002080.4(GOT2):c.1251C>T (p.Asn417=)	GOT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733891	NM_002080.4(GOT2):c.1248C>T (p.Ser416=)	GOT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2560162	NM_002080.4(GOT2):c.1244C>G (p.Ser415Cys)	GOT2 (S372C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2792175	NM_002080.4(GOT2):c.1239C>T (p.Val413=)	GOT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029681	NM_002080.4(GOT2):c.1214A>G (p.Asp405Gly)	GOT2 (D362G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566877	NM_002080.4(GOT2):c.1180C>T (p.Leu394=)	GOT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747258	NM_002080.4(GOT2):c.1178G>A (p.Arg393Gln)	GOT2 (R350Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1640898	NM_002080.4(GOT2):c.1177C>T (p.Arg393Trp)	GOT2 (R350W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 734481	NM_002080.4(GOT2):c.1171-8C>G	GOT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2981014	NM_002080.4(GOT2):c.1171-15C>A	GOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743771	NM_002080.4(GOT2):c.1171-17T>G	GOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876494	NM_002080.4(GOT2):c.1170+10T>G	GOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935868	NM_002080.4(GOT2):c.1170G>A (p.Gln390=)	GOT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1961271	NM_002080.4(GOT2):c.1151C>T (p.Thr384Ile)	GOT2 (T341I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281991	NM_002080.4(GOT2):c.1131A>C (p.Gln377His)	GOT2 (Q377H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2189369	NM_002080.4(GOT2):c.1126G>A (p.Asp376Asn)	GOT2 (D376N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614801	NM_002080.4(GOT2):c.1125C>T (p.Thr375=)	GOT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1419631	NM_002080.4(GOT2):c.1115A>G (p.Gln372Arg)	GOT2 (Q372R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 691281	NM_002080.4(GOT2):c.1097G>T (p.Gly366Val)	GOT2 (G323V +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2064625	NM_002080.4(GOT2):c.1090A>G (p.Lys364Glu)	GOT2 (K364E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2570661	NM_002080.4(GOT2):c.1084C>T (p.Leu362Phe)	GOT2 (L319F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 82	GUncertain significance
Select item 1393222	NM_002080.4(GOT2):c.1082A>G (p.Asn361Ser)	GOT2 (N318S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080831	NM_002080.4(GOT2):c.1069C>G (p.Gln357Glu)	GOT2 (Q314E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2593725	NM_002080.4(GOT2):c.1049G>A (p.Arg350His)	GOT2 (R350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068034	NM_002080.4(GOT2):c.1048C>T (p.Arg350Cys)	GOT2 (R307C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 82	GUncertain significance
Select item 1285299	NM_002080.4(GOT2):c.1037T>G (p.Val346Gly)	GOT2 (V303G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 82 +1 more	GBenign
Select item 2979097	NM_002080.4(GOT2):c.1020-13G>A	GOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610737	NM_002080.4(GOT2):c.1020-15A>G	GOT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2978257	NM_002080.4(GOT2):c.1019+17del	GOT2	Deletion (intron variant)	not provided	GLikely benign
Select item 691279	NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly)	GOT2 (R294G +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2335077	NM_002080.4(GOT2):c.988A>G (p.Ile330Val)	GOT2 (I287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1368160	NM_002080.4(GOT2):c.974G>A (p.Arg325Gln)	GOT2 (R282Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2055195	NM_002080.4(GOT2):c.972C>G (p.Ala324=)	GOT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1952250	NM_002080.4(GOT2):c.924G>C (p.Leu308Phe)	GOT2 (L265F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420473	NM_002080.4(GOT2):c.908G>A (p.Arg303Lys)	GOT2 (R260K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410156	NM_002080.4(GOT2):c.893C>G (p.Ala298Gly)	GOT2 (A255G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368594	NM_002080.4(GOT2):c.893C>T (p.Ala298Val)	GOT2 (A298V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689143	NM_002080.4(GOT2):c.880G>C (p.Val294Leu)	GOT2 (V251L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 82	GUncertain significance
Select item 1603723	NM_002080.4(GOT2):c.853+16C>T	GOT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1403005	NM_002080.4(GOT2):c.850T>C (p.Tyr284His)	GOT2 (Y284H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285300	NM_002080.4(GOT2):c.816C>T (p.Cys272=)	GOT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 82 +1 more	GBenign
Select item 3101033	NM_002080.4(GOT2):c.803G>A (p.Gly268Asp)	GOT2 (G225D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281994	NM_002080.4(GOT2):c.795C>G (p.Ile265Met)	GOT2 (I222M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 691280	NM_002080.4(GOT2):c.784C>G (p.Arg262Gly)	GOT2 (R219G +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1709516	NM_002080.4(GOT2):c.722T>G (p.Phe241Cys)	GOT2 (F198C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 82	GUncertain significance
Select item 2068462	NM_002080.4(GOT2):c.720G>A (p.Ala240=)	GOT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416474	NM_002080.4(GOT2):c.719C>T (p.Ala240Val)	GOT2 (A197V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533724	NM_002080.4(GOT2):c.703-9C>T	GOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930753	NM_002080.4(GOT2):c.703-20G>A	GOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599796	NM_002080.4(GOT2):c.702+19C>G	GOT2, LOC126862363	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2130013	NM_002080.4(GOT2):c.702+10A>T	GOT2, LOC126862363	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052285	NM_002080.4(GOT2):c.702+10A>G	GOT2, LOC126862363	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3281993	NM_002080.4(GOT2):c.689C>T (p.Ala230Val)	GOT2, LOC126862363 (A230V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321606	NM_002080.4(GOT2):c.670G>A (p.Glu224Lys)	GOT2, LOC126862363 (E224K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1632278	NM_002080.4(GOT2):c.665G>A (p.Arg222His)	GOT2, LOC126862363 (R179H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1370391	NM_002080.4(GOT2):c.662C>T (p.Pro221Leu)	GOT2, LOC126862363 (P178L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574087	NM_002080.4(GOT2):c.657G>A (p.Val219=)	GOT2, LOC126862363	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085716	NM_002080.4(GOT2):c.651G>A (p.Thr217=)	GOT2, LOC126862363	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2332708	NM_002080.4(GOT2):c.650C>A (p.Thr217Lys)	GOT2, LOC126862363 (T174K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 691278	NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del)	GOT2, LOC126862363 (L209del +1 more)	Microsatellite (inframe_deletion)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2268900	NM_002080.4(GOT2):c.602T>C (p.Ile201Thr)	GOT2, LOC126862363 (I201T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1964506	NM_002080.4(GOT2):c.597+19G>A	GOT2, LOC126862363	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674447	NM_002080.4(GOT2):c.597+18G>A	GOT2, LOC126862363	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1390821	NM_002080.4(GOT2):c.589G>A (p.Asp197Asn)	GOT2, LOC126862363 (D154N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2383391	NM_002080.4(GOT2):c.584T>C (p.Val195Ala)	GOT2, LOC126862363 (V195A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2176748	NM_002080.4(GOT2):c.580G>A (p.Ala194Thr)	GOT2, LOC126862363 (A194T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570660	NM_002080.4(GOT2):c.569A>T (p.Asp190Val)	LOC126862363, GOT2 (D147V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 82	GUncertain significance
Select item 1555382	NM_002080.4(GOT2):c.562G>A (p.Gly188Ser)	GOT2, LOC126862363 (G145S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1905821	NM_002080.4(GOT2):c.539G>A (p.Arg180Gln)	GOT2, LOC126862363 (R180Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281992	NM_002080.4(GOT2):c.478C>T (p.Pro160Ser)	GOT2, LOC126862363 (P117S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781207	NM_002080.4(GOT2):c.460G>A (p.Asp154Asn)	GOT2, LOC126862363 (D154N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2746722	NM_002080.4(GOT2):c.436-3del	GOT2, LOC126862363	Deletion (intron variant)	not provided	GBenign
Select item 1987456	NM_002080.4(GOT2):c.436-14G>A	GOT2, LOC126862363	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632147	NM_002080.4(GOT2):c.435+17C>G	GOT2, LOC126862363	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922208	NM_002080.4(GOT2):c.435+10G>A	GOT2, LOC126862363	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661265	NM_002080.4(GOT2):c.435+3G>A	GOT2, LOC126862363	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966603	NM_002080.4(GOT2):c.376-19G>A	GOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924760	NM_002080.4(GOT2):c.376-20C>T	GOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903761	NM_002080.4(GOT2):c.372C>A (p.Gly124=)	GOT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 777034	NM_002080.4(GOT2):c.354C>T (p.Ser118=)	GOT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1599384	NM_002080.4(GOT2):c.351C>T (p.Asn117=)	GOT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2077580	NM_002080.4(GOT2):c.333A>C (p.Glu111Asp)	GOT2 (E111D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2210701	NM_002080.4(GOT2):c.274T>G (p.Leu92Val)	GOT2 (L92V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1919081	NM_002080.4(GOT2):c.272dup (p.Asn91fs)	GOT2 (N91fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2072201	NM_002080.4(GOT2):c.265G>T (p.Ala89Ser)	GOT2 (A89S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646583	NM_002080.4(GOT2):c.264C>T (p.Ala88=)	GOT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1933187	NM_002080.4(GOT2):c.247G>T (p.Ala83Ser)	GOT2 (A83S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2196909	NM_002080.4(GOT2):c.242G>A (p.Arg81His)	GOT2 (R81H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164866	NM_002080.4(GOT2):c.241C>T (p.Arg81Cys)	GOT2 (R81C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002169	NM_002080.4(GOT2):c.238G>A (p.Val80Ile)	GOT2 (V80I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169801	NM_002080.4(GOT2):c.233C>T (p.Pro78Leu)	GOT2 (P78L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 82 +1 more	GUncertain significance
Select item 1285301	NM_002080.4(GOT2):c.228T>G (p.Val76=)	GOT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 82 +1 more	GBenign

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