ClinVar for Gene (Select 64849) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022290	NM_022829.6(SLC13A3):c.185C>T (p.Thr62Met)	SLC13A3 (T15M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016114	NM_022829.6(SLC13A3):c.731T>C (p.Ile244Thr)	SLC13A3 (I146T +2 more)	Single nucleotide variant (missense variant +1 more)	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 3013845	NM_022829.6(SLC13A3):c.595G>A (p.Ala199Thr)	SLC13A3 (A199T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011895	NM_022829.6(SLC13A3):c.188C>T (p.Ala63Val)	SLC13A3 (A16V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010531	NM_022829.6(SLC13A3):c.618C>G (p.His206Gln)	SLC13A3 (H159Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999375	NM_022829.6(SLC13A3):c.51G>C (p.Leu17=)	SLC13A3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2991859	NM_022829.6(SLC13A3):c.331C>T (p.Arg111Ter)	SLC13A3 (R13* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2976178	NM_022829.6(SLC13A3):c.337G>A (p.Ala113Thr)	SLC13A3 (A113T +2 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 2970161	NM_022829.6(SLC13A3):c.634G>T (p.Val212Phe)	SLC13A3 (R189S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2958405	NM_022829.6(SLC13A3):c.994T>A (p.Tyr332Asn)	SLC13A3 (Y282N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897248	NM_022829.6(SLC13A3):c.579G>A (p.Thr193=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896827	NM_022829.6(SLC13A3):c.237C>A (p.Asn79Lys)	SLC13A3 (N32K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2894118	NM_022829.6(SLC13A3):c.496A>C (p.Lys166Gln)	SLC13A3 (K166Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891165	NM_022829.6(SLC13A3):c.194T>G (p.Leu65Arg)	SLC13A3 (L65R +1 more)	Single nucleotide variant (missense variant +1 more)	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 2880204	NM_022829.6(SLC13A3):c.1371C>T (p.His457=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835482	NM_022829.6(SLC13A3):c.692G>A (p.Trp231Ter)	SLC13A3 (W231* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 2794214	NM_022829.6(SLC13A3):c.112-15C>A	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 2768125	NM_022829.6(SLC13A3):c.1632+6T>C	SLC13A3	Single nucleotide variant (intron variant)	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 2723826	NM_022829.6(SLC13A3):c.891C>T (p.Ile297=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2715478	NM_022829.6(SLC13A3):c.1495-19C>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652371	NM_022829.6(SLC13A3):c.541+1540A>C	SLC13A3	Single nucleotide variant (intron variant)	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)	Inborn genetic diseases	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 2550356	NM_022829.6(SLC13A3):c.1513C>T (p.His505Tyr)	SLC13A3 (H407Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539003	NM_022829.6(SLC13A3):c.248C>T (p.Pro83Leu)	SLC13A3 (P83L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2427138	NC_000020.10:g.(?_45279930)_(45358147_?)dup	SLC13A3, SLC2A10 +1 more	Duplication	not provided	GUncertain significance
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 2418426	NM_022829.6(SLC13A3):c.1076G>A (p.Arg359Gln)	SLC13A3 (R261Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 2413220	NM_022829.6(SLC13A3):c.145G>A (p.Ala49Thr)	SLC13A3 (A2T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2372704	NM_022829.6(SLC13A3):c.551G>A (p.Arg184Gln)	SLC13A3 (R137Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315845	NM_022829.6(SLC13A3):c.1543G>A (p.Val515Ile)	SLC13A3 (V433I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293491	NM_022829.6(SLC13A3):c.97G>T (p.Ala33Ser)	SLC13A3 (A33S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2234743	NM_022829.6(SLC13A3):c.371C>T (p.Pro124Leu)	SLC13A3 (P124L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193298	NM_022829.6(SLC13A3):c.144G>A (p.Met48Ile)	SLC13A3 (M1I +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2190887	NM_022829.6(SLC13A3):c.205C>T (p.Leu69Phe)	SLC13A3 (L22F +1 more)	Single nucleotide variant (missense variant +1 more)	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 2187941	NM_022829.6(SLC13A3):c.1636C>T (p.Arg546Trp)	SLC13A3 (R448W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183233	NM_022829.6(SLC13A3):c.523G>A (p.Glu175Lys)	SLC13A3 (E128K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181598	NM_022829.6(SLC13A3):c.1197C>A (p.Leu399=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2175601	NM_022829.6(SLC13A3):c.1333-5C>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2172819	NM_022829.6(SLC13A3):c.825C>T (p.Phe275=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2164306	NM_022829.6(SLC13A3):c.1144G>A (p.Gly382Ser)	SLC13A3 (G332S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140199	NM_022829.6(SLC13A3):c.777G>T (p.Leu259=)	SLC13A3 (C237F)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 2081206	NM_022829.6(SLC13A3):c.1392C>T (p.Pro464=)	SLC13A3	Single nucleotide variant (synonymous variant)	SLC13A3-related condition +1 more	GBenign/Likely benign
Select item 2077784	NM_022829.6(SLC13A3):c.578C>T (p.Thr193Met)	SLC13A3 (T95M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2071936	NM_022829.6(SLC13A3):c.1333-4G>A	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2059040	NM_022829.6(SLC13A3):c.6G>A (p.Ala2=)	SLC13A3	Single nucleotide variant (synonymous variant +2 more)	not provided	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 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 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 2024041	NM_022829.6(SLC13A3):c.112-10C>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021285	NM_022829.6(SLC13A3):c.378-9G>A	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017810	NM_022829.6(SLC13A3):c.15AGC[3] (p.Ala8_Lys9insAla)	SLC13A3	Microsatellite (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 2017376	NM_022829.6(SLC13A3):c.135C>T (p.Ile45=)	SLC13A3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2012158	NM_022829.6(SLC13A3):c.236A>G (p.Asn79Ser)	SLC13A3 (N32S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2011094	NM_022829.6(SLC13A3):c.242T>G (p.Val81Gly)	SLC13A3 (V81G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1991390	NM_022829.6(SLC13A3):c.795-12G>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990281	NM_022829.6(SLC13A3):c.650C>T (p.Pro217Leu)	SLC13A3 (P119L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981197	NM_022829.6(SLC13A3):c.1219+8G>T	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1973946	NM_022829.6(SLC13A3):c.786G>A (p.Gln262=)	SLC13A3 (S240N)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 1962983	NM_022829.6(SLC13A3):c.342C>G (p.Leu114=)	SLC13A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1948475	NM_022829.6(SLC13A3):c.147G>A (p.Ala49=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948296	NM_022829.6(SLC13A3):c.668A>T (p.Glu223Val)	SLC13A3 (E176V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947726	NM_022829.6(SLC13A3):c.558C>T (p.Asn186=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947464	NM_022829.6(SLC13A3):c.587A>G (p.Gln196Arg)	SLC13A3 (Q149R +2 more)	Single nucleotide variant (missense variant +1 more)	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 1945282	NM_022829.6(SLC13A3):c.1110C>T (p.Leu370=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1939644	NM_022829.6(SLC13A3):c.9G>T (p.Ala3=)	SLC13A3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 1927406	NM_022829.6(SLC13A3):c.1062C>T (p.Ile354=)	SLC13A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1925823	NM_022829.6(SLC13A3):c.314A>G (p.Glu105Gly)	SLC13A3 (E58G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925144	NM_022829.6(SLC13A3):c.202G>A (p.Val68Ile)	SLC13A3 (V21I +1 more)	Single nucleotide variant (missense variant +1 more)	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 1918406	NM_022829.6(SLC13A3):c.1220-17del	SLC13A3	Deletion (intron variant)	not provided	GLikely benign
Select item 1914632	NM_022829.6(SLC13A3):c.1121+15A>G	SLC13A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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