ClinVar for Gene (Select 284111) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371192	NM_177550.5(SLC13A5):c.348G>C (p.Trp116Cys)	SLC13A5 (W116C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343556	NM_177550.5(SLC13A5):c.116C>T (p.Ala39Val)	SLC13A5 (A39V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341890	NM_177550.5(SLC13A5):c.839+8T>G	SLC13A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3318877	NM_177550.5(SLC13A5):c.1226G>A (p.Gly409Asp)	SLC13A5 (G366D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318876	NM_177550.5(SLC13A5):c.181C>A (p.Leu61Ile)	SLC13A5 (L61I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3256781	NM_177550.5(SLC13A5):c.368+1G>A	SLC13A5	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 25	GLikely pathogenic
Select item 3256119	Single allele	SLC13A5	Deletion	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243183	NC_000017.10:g.(?_6526182)_(6599280_?)del	C17orf100, KIAA0753 +3 more	Deletion	not provided	GPathogenic
Select item 3243105	NC_000017.10:g.(?_6607177)_(6610495_?)del	SLC13A5	Deletion	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 3243104	NC_000017.10:g.(?_6609941)_(6616652_?)del	SLC13A5	Deletion	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 3239356	NM_177550.5(SLC13A5):c.1157-1G>T	SLC13A5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3162966	NM_177550.5(SLC13A5):c.71T>G (p.Leu24Arg)	SLC13A5 (L24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162965	NM_177550.5(SLC13A5):c.70C>G (p.Leu24Val)	SLC13A5 (L24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162964	NM_177550.5(SLC13A5):c.643G>T (p.Ala215Ser)	SLC13A5 (A172S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3162963	NM_177550.5(SLC13A5):c.1399G>A (p.Ala467Thr)	SLC13A5 (A424T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162962	NM_177550.5(SLC13A5):c.1324G>A (p.Ala442Thr)	SLC13A5 (A425T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162961	NM_177550.5(SLC13A5):c.121G>A (p.Val41Ile)	SLC13A5 (V41I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068619	NM_177550.5(SLC13A5):c.1247del (p.Gly416fs)	SLC13A5 (G373fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 25	GLikely pathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3021292	NM_177550.5(SLC13A5):c.548-13G>C	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 3018821	NM_177550.5(SLC13A5):c.547+19C>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2998701	NM_177550.5(SLC13A5):c.1275+9T>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2983161	NM_177550.5(SLC13A5):c.812G>A (p.Trp271Ter)	SLC13A5 (W228* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 2962874	NM_177550.5(SLC13A5):c.716+19C>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2919552	NM_177550.5(SLC13A5):c.267G>C (p.Leu89=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2908345	NM_177550.5(SLC13A5):c.1403C>A (p.Thr468Asn)	SLC13A5 (T468N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2908088	NM_177550.5(SLC13A5):c.271C>T (p.Leu91=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2905346	NM_177550.5(SLC13A5):c.60C>G (p.Thr20=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2904233	NM_177550.5(SLC13A5):c.717G>A (p.Glu239=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2901056	NM_177550.5(SLC13A5):c.366A>G (p.Ala122=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2888655	NM_177550.5(SLC13A5):c.1276-15C>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2882137	NM_177550.5(SLC13A5):c.450C>T (p.Pro150=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2872951	NM_177550.5(SLC13A5):c.561T>A (p.Ile187=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2871850	NM_177550.5(SLC13A5):c.839+8T>C	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2867558	NM_177550.5(SLC13A5):c.231+12C>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2861854	NM_177550.5(SLC13A5):c.1437+20G>C	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2859868	NM_177550.5(SLC13A5):c.570C>T (p.Gly190=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2848938	NM_177550.5(SLC13A5):c.1055+10G>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2840820	NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2839547	NM_177550.5(SLC13A5):c.1157-68GT[38]	SLC13A5	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2838947	NM_177550.5(SLC13A5):c.1156+1_1156+5del	SLC13A5	Deletion (splice donor variant)	Developmental and epileptic encephalopathy, 25	GLikely pathogenic
Select item 2830647	NM_177550.5(SLC13A5):c.48C>T (p.Ile16=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2822068	NM_177550.5(SLC13A5):c.858C>T (p.Gly286=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2821805	NM_177550.5(SLC13A5):c.368+16C>G	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2812164	NM_177550.5(SLC13A5):c.522C>T (p.Asp174=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2811441	NM_177550.5(SLC13A5):c.72G>A (p.Leu24=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2805383	NM_177550.5(SLC13A5):c.1056-15C>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2803069	NM_177550.5(SLC13A5):c.1182T>A (p.Pro394=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2802697	NM_177550.5(SLC13A5):c.1383G>A (p.Glu461=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2802014	NM_177550.5(SLC13A5):c.646del (p.Ala216fs)	SLC13A5 (A173fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 2791689	NM_177550.5(SLC13A5):c.657G>A (p.Gly219=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2784986	NM_177550.5(SLC13A5):c.102+19C>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2766623	NM_177550.5(SLC13A5):c.368+9G>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2765976	NM_177550.5(SLC13A5):c.1484C>T (p.Thr495Ile)	SLC13A5 (T478I +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 2762713	NM_177550.5(SLC13A5):c.1157-19_1157-18insTGTA	SLC13A5	Insertion (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2760744	NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs)	SLC13A5 (S6fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 2753469	NM_177550.5(SLC13A5):c.1371C>T (p.Ala457=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2752008	NM_177550.5(SLC13A5):c.629T>C (p.Leu210Pro)	SLC13A5 (L167P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2747865	NM_177550.5(SLC13A5):c.378G>C (p.Leu126=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2746878	NM_177550.5(SLC13A5):c.102+20A>G	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2745562	NM_177550.5(SLC13A5):c.793C>T (p.Leu265=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2733611	NM_177550.5(SLC13A5):c.1157-16T>G	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2733477	NM_177550.5(SLC13A5):c.1156+7C>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2731234	NM_177550.5(SLC13A5):c.570C>A (p.Gly190=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2730138	NM_177550.5(SLC13A5):c.716+15G>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2729167	NM_177550.5(SLC13A5):c.368+12T>C	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2727263	NM_177550.5(SLC13A5):c.66C>T (p.Leu22=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2713170	NM_177550.5(SLC13A5):c.816C>T (p.Leu272=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2712893	NM_177550.5(SLC13A5):c.1157-68GT[9]	SLC13A5	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2707561	NM_177550.5(SLC13A5):c.1096del (p.Leu366fs)	SLC13A5 (L349fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 2700536	NM_177550.5(SLC13A5):c.1242A>G (p.Leu414=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2696460	NM_177550.5(SLC13A5):c.103-20C>G	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2696304	NM_177550.5(SLC13A5):c.1438-19C>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2689996	NM_177550.5(SLC13A5):c.454G>A (p.Val152Met)	SLC13A5 (V109M +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2672678	NM_177550.5(SLC13A5):c.1206C>G (p.Thr402=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 2647315	NM_177550.5(SLC13A5):c.156A>G (p.Glu52=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647314	NM_177550.5(SLC13A5):c.1686T>C (p.Asn562=)	SLC13A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630802	NM_177550.5(SLC13A5):c.424A>G (p.Thr142Ala)	SLC13A5 (T125A +2 more)	Single nucleotide variant (missense variant)	SLC13A5-related disorder	GUncertain significance
Select item 2621526	NM_177550.5(SLC13A5):c.243G>C (p.Gln81His)	SLC13A5 (Q38H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604216	NM_177550.5(SLC13A5):c.54C>G (p.Phe18Leu)	SLC13A5 (F18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588641	NM_177550.5(SLC13A5):c.1175A>G (p.Tyr392Cys)	SLC13A5 (Y349C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2579197	GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0	SLC13A5	Copy number loss	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 2546282	NM_177550.5(SLC13A5):c.1564G>T (p.Val522Phe)	SLC13A5 (V479F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476296	NM_177550.5(SLC13A5):c.1321C>T (p.His441Tyr)	SLC13A5 (H441Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444707	NM_177550.5(SLC13A5):c.1635C>G (p.Asn545Lys)	SLC13A5 (N499K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435974	NM_177550.5(SLC13A5):c.1159A>G (p.Arg387Gly)	SLC13A5 (R344G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2427557	NC_000017.10:g.(?_5289526)_(6616652_?)dup	AIPL1, C17orf100 +14 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2427556	NC_000017.10:g.(?_6607177)_(6616652_?)dup	SLC13A5	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2427555	NC_000017.10:g.(?_6607177)_(6607395_?)del	SLC13A5	Deletion	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 2423609	NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met)	SLC13A5 (I488M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2419466	NM_177550.5(SLC13A5):c.339G>A (p.Thr113=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2418985	NM_177550.5(SLC13A5):c.1055+14T>G	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2314844	NM_177550.5(SLC13A5):c.59C>T (p.Thr20Ile)	SLC13A5 (T20I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203789	NM_177550.5(SLC13A5):c.943G>A (p.Ala315Thr)	SLC13A5 (A298T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202314	NM_177550.5(SLC13A5):c.949A>T (p.Ile317Phe)	SLC13A5 (I300F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2200789	NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser)	SLC13A5 (L407S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2197513	NM_177550.5(SLC13A5):c.822T>C (p.Phe274=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign

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