SLC13A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 1717681	NM_022829.6(SLC13A3):c.1804C>T (p.Leu602Phe)	SLC13A3 (L504F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170817	NM_022829.6(SLC13A3):c.1798C>T (p.Arg600Trp)	SLC13A3 (R553W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109854	NM_022829.6(SLC13A3):c.1796T>A (p.Phe599Tyr)	SLC13A3 (F501Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408746	NM_022829.6(SLC13A3):c.1757A>G (p.Asn586Ser)	SLC13A3 (N504S +4 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate +2 more	GUncertain significance
Select item 1904571	NM_022829.6(SLC13A3):c.1748A>C (p.Tyr583Ser)	SLC13A3 (Y485S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431291	NM_022829.6(SLC13A3):c.1748A>T (p.Tyr583Phe)	SLC13A3 (Y536F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015203	NM_022829.6(SLC13A3):c.1745T>G (p.Met582Arg)	SLC13A3 (M484R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582995	NM_022829.6(SLC13A3):c.1737G>A (p.Trp579Ter)	SLC13A3 (W481* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1946620	NM_022829.6(SLC13A3):c.1730C>T (p.Pro577Leu)	SLC13A3 (P530L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902006	NM_022829.6(SLC13A3):c.1720G>A (p.Gly574Ser)	SLC13A3 (G492S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349965	NM_022829.6(SLC13A3):c.1691A>C (p.Asn564Thr)	SLC13A3 (N564T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629316	NM_022829.6(SLC13A3):c.1659G>C (p.Leu553=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625425	NM_022829.6(SLC13A3):c.1642G>A (p.Gly548Ser)	SLC13A3 (G548S +4 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	GPathogenic
Select item 161765	NM_022829.6(SLC13A3):c.1637G>A (p.Arg546Gln)	SLC13A3 (R546Q +4 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate +1 more	GUncertain significance
Select item 2187941	NM_022829.6(SLC13A3):c.1636C>T (p.Arg546Trp)	SLC13A3 (R448W +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1641683	NM_022829.6(SLC13A3):c.1632+20A>G	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542032	NM_022829.6(SLC13A3):c.1632+13del	SLC13A3	Deletion (intron variant)	not provided	GBenign
Select item 2768125	NM_022829.6(SLC13A3):c.1632+6T>C	SLC13A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1632979	NM_022829.6(SLC13A3):c.1602C>T (p.Phe534=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418537	NM_022829.6(SLC13A3):c.1571C>T (p.Pro524Leu)	SLC13A3 (P426L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920475	NM_022829.6(SLC13A3):c.1546G>A (p.Gly516Ser)	SLC13A3 (G434S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2315845	NM_022829.6(SLC13A3):c.1543G>A (p.Val515Ile)	SLC13A3 (V433I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067573	NM_022829.6(SLC13A3):c.1533T>G (p.Ile511Met)	SLC13A3 (I429M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521731	NM_022829.6(SLC13A3):c.1519del (p.Leu507fs)	SLC13A3 (L425fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1599672	NM_022829.6(SLC13A3):c.1518C>G (p.Pro506=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2550356	NM_022829.6(SLC13A3):c.1513C>T (p.His505Tyr)	SLC13A3 (H407Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1536670	NM_022829.6(SLC13A3):c.1507A>C (p.Arg503=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715478	NM_022829.6(SLC13A3):c.1495-19C>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2502844	NM_022829.6(SLC13A3):c.1478C>T (p.Pro493Leu)	SLC13A3 (P395L +4 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	GLikely pathogenic
Select item 1955569	NM_022829.6(SLC13A3):c.1463T>C (p.Ile488Thr)	SLC13A3 (I488T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168839	NM_022829.6(SLC13A3):c.1458G>C (p.Ala486=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2959091	NM_022829.6(SLC13A3):c.1457C>T (p.Ala486Val)	SLC13A3 (A404V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975465	NM_022829.6(SLC13A3):c.1426G>A (p.Ala476Thr)	SLC13A3 (A394T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888583	NM_022829.6(SLC13A3):c.1417G>A (p.Val473Met)	SLC13A3 (V426M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976396	NM_022829.6(SLC13A3):c.1408C>T (p.Leu470Phe)	SLC13A3 (L470F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081206	NM_022829.6(SLC13A3):c.1392C>T (p.Pro464=)	SLC13A3	Single nucleotide variant (synonymous variant)	SLC13A3-related disorder +1 more	GBenign/Likely benign
Select item 1972025	NM_022829.6(SLC13A3):c.1388C>T (p.Pro463Leu)	SLC13A3 (P381L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043634	NM_022829.6(SLC13A3):c.1384G>A (p.Val462Met)	SLC13A3 (V412M +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2880204	NM_022829.6(SLC13A3):c.1371C>T (p.His457=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398251	NM_022829.6(SLC13A3):c.1365G>T (p.Gln455His)	SLC13A3 (Q405H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377585	NM_022829.6(SLC13A3):c.1360G>A (p.Gly454Arg)	SLC13A3 (G356R +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1597476	NM_022829.6(SLC13A3):c.1344G>A (p.Leu448=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071936	NM_022829.6(SLC13A3):c.1333-4G>A	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599599	NM_022829.6(SLC13A3):c.1333-4G>T	SLC13A3	Single nucleotide variant (intron variant)	SLC13A3-related disorder +1 more	GBenign
Select item 2175601	NM_022829.6(SLC13A3):c.1333-5C>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792915	NM_022829.6(SLC13A3):c.1333-16G>A	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594525	NM_022829.6(SLC13A3):c.1311C>T (p.Phe437=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168840	NM_022829.6(SLC13A3):c.1278C>T (p.Pro426=)	SLC13A3	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate +2 more	GBenign
Select item 1640691	NM_022829.6(SLC13A3):c.1272A>G (p.Thr424=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501197	NM_022829.6(SLC13A3):c.1241C>T (p.Pro414Leu)	SLC13A3 (P364L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190665	NM_022829.6(SLC13A3):c.1235C>T (p.Thr412Ile)	SLC13A3 (T314I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918406	NM_022829.6(SLC13A3):c.1220-17del	SLC13A3	Deletion (intron variant)	not provided	GLikely benign
Select item 1981197	NM_022829.6(SLC13A3):c.1219+8G>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181598	NM_022829.6(SLC13A3):c.1197C>A (p.Leu399=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1596259	NM_022829.6(SLC13A3):c.1179G>A (p.Pro393=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825140	NM_022829.6(SLC13A3):c.1167_1169del (p.Leu389del)	SLC13A3 (L339del +4 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2722811	NM_022829.6(SLC13A3):c.1169T>A (p.Phe390Tyr)	SLC13A3 (F292Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113347	NM_022829.6(SLC13A3):c.1163T>A (p.Ile388Asn)	SLC13A3 (I306N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464838	NM_022829.6(SLC13A3):c.1147G>A (p.Val383Met)	SLC13A3 (V301M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415146	NM_022829.6(SLC13A3):c.1146C>T (p.Gly382=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164306	NM_022829.6(SLC13A3):c.1144G>A (p.Gly382Ser)	SLC13A3 (G332S +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2077752	NM_022829.6(SLC13A3):c.1143C>T (p.Thr381=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607957	NM_022829.6(SLC13A3):c.1134T>C (p.Asp378=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559397	NM_022829.6(SLC13A3):c.1121+18C>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1914632	NM_022829.6(SLC13A3):c.1121+15A>G	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1422982	NM_022829.6(SLC13A3):c.1115A>G (p.Asn372Ser)	SLC13A3 (N325S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945282	NM_022829.6(SLC13A3):c.1110C>T (p.Leu370=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2132787	NM_022829.6(SLC13A3):c.1109T>C (p.Leu370Pro)	SLC13A3 (L323P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1028783	NM_022829.6(SLC13A3):c.1106G>A (p.Ser369Asn)	SLC13A3 (S271N +3 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate +1 more	GUncertain significance
Select item 1930451	NM_022829.6(SLC13A3):c.1083G>A (p.Pro361=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2418426	NM_022829.6(SLC13A3):c.1076G>A (p.Arg359Gln)	SLC13A3 (R261Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1430041	NM_022829.6(SLC13A3):c.1075C>T (p.Arg359Trp)	SLC13A3 (R261W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1927406	NM_022829.6(SLC13A3):c.1062C>T (p.Ile354=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2130875	NM_022829.6(SLC13A3):c.1033_1035del (p.Val345del)	SLC13A3 (V247del +3 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1164176	NM_022829.6(SLC13A3):c.1035T>A (p.Val345=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1425471	NM_022829.6(SLC13A3):c.1024G>A (p.Glu342Lys)	SLC13A3 (E244K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 625426	NM_022829.6(SLC13A3):c.1016+3A>G	SLC13A3	Single nucleotide variant (intron variant)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate +1 more	GConflicting classifications of pathogenicity
Select item 1570967	NM_022829.6(SLC13A3):c.1002C>T (p.Asn334=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958405	NM_022829.6(SLC13A3):c.994T>A (p.Tyr332Asn)	SLC13A3 (Y282N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2047153	NM_022829.6(SLC13A3):c.990A>G (p.Glu330=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628479	NM_022829.6(SLC13A3):c.987G>A (p.Arg329=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438893	NM_022829.6(SLC13A3):c.974G>A (p.Arg325Gln)	SLC13A3 (R325Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599801	NM_022829.6(SLC13A3):c.957T>C (p.Asn319=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2041622	NM_022829.6(SLC13A3):c.950G>C (p.Arg317Thr)	SLC13A3 (R317T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173422	NM_022829.6(SLC13A3):c.919A>T (p.Arg307Trp)	SLC13A3 (R260W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164907	NM_022829.6(SLC13A3):c.908G>C (p.Gly303Ala)	SLC13A3 (G205A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1927598	NM_022829.6(SLC13A3):c.904G>A (p.Gly302Arg)	SLC13A3 (G252R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616814	NM_022829.6(SLC13A3):c.903C>T (p.Tyr301=)	SLC13A3	Single nucleotide variant (synonymous variant)	SLC13A3-related disorder +1 more	GBenign/Likely benign
Select item 2723826	NM_022829.6(SLC13A3):c.891C>T (p.Ile297=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1957965	NM_022829.6(SLC13A3):c.878G>C (p.Gly293Ala)	SLC13A3 (G293A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910682	NM_022829.6(SLC13A3):c.857T>C (p.Met286Thr)	SLC13A3 (M188T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2743357	NM_022829.6(SLC13A3):c.835T>C (p.Phe279Leu)	SLC13A3 (F232L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172819	NM_022829.6(SLC13A3):c.825C>T (p.Phe275=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2607656	NM_022829.6(SLC13A3):c.814G>A (p.Val272Met)	SLC13A3 (V272M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1648763	NM_022829.6(SLC13A3):c.813C>T (p.Asp271=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2896030	NM_022829.6(SLC13A3):c.804G>A (p.Pro268=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1991390	NM_022829.6(SLC13A3):c.795-12G>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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