ClinVar for MedGen (Select 863058) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256119	Single allele	SLC13A5	Deletion	Developmental and epileptic encephalopathy, 25	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 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 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	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 2579197	GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0	SLC13A5	Copy number loss	Developmental and epileptic encephalopathy, 25	GPathogenic
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)	Developmental and epileptic encephalopathy, 25	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 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
Select item 2195190	NM_177550.5(SLC13A5):c.369-19C>G	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2193232	NM_177550.5(SLC13A5):c.1437+20G>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2191450	NM_177550.5(SLC13A5):c.312C>T (p.Asn104=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2182605	NM_177550.5(SLC13A5):c.303G>A (p.Glu101=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2176492	NM_177550.5(SLC13A5):c.435G>A (p.Thr145=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2174005	NM_177550.5(SLC13A5):c.882C>A (p.Asn294Lys)	SLC13A5 (N251K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2170645	NM_177550.5(SLC13A5):c.1126A>G (p.Lys376Glu)	SLC13A5 (K333E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2169330	NM_177550.5(SLC13A5):c.627C>T (p.Thr209=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2168151	NM_177550.5(SLC13A5):c.561T>C (p.Ile187=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2156028	NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu)	SLC13A5 (G531E +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2151580	NM_177550.5(SLC13A5):c.451A>G (p.Ile151Val)	SLC13A5 (I108V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2150595	NM_177550.5(SLC13A5):c.356C>A (p.Ala119Asp)	SLC13A5 (A119D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2148639	NM_177550.5(SLC13A5):c.716+14C>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2147527	NM_177550.5(SLC13A5):c.1437G>A (p.Met479Ile)	SLC13A5 (M436I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2146159	NM_177550.5(SLC13A5):c.1053A>G (p.Thr351=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2144646	NM_177550.5(SLC13A5):c.1341C>T (p.Ala447=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2140938	NM_177550.5(SLC13A5):c.1189C>T (p.Leu397=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2140104	NM_177550.5(SLC13A5):c.1015C>A (p.Pro339Thr)	SLC13A5 (P296T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2135139	NM_177550.5(SLC13A5):c.903G>A (p.Val301=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2132760	NM_177550.5(SLC13A5):c.1097T>C (p.Leu366Pro)	SLC13A5 (L349P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2131153	NM_177550.5(SLC13A5):c.1252T>A (p.Phe418Ile)	SLC13A5 (F401I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2129251	NM_177550.5(SLC13A5):c.1457A>G (p.Asn486Ser)	SLC13A5 (N486S +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2128920	NM_177550.5(SLC13A5):c.1348T>C (p.Leu450=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2125220	NM_177550.5(SLC13A5):c.1276-9G>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2122009	NM_177550.5(SLC13A5):c.252G>A (p.Lys84=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2111599	NM_177550.5(SLC13A5):c.1157-68GT[8]	SLC13A5	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2111118	NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys)	SLC13A5 (F495C +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2111104	NM_177550.5(SLC13A5):c.1575+8A>G	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2107078	NM_177550.5(SLC13A5):c.548-14T>G	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign

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