ClinVar for MedGen (Select 90999) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253652	NM_003060.4(SLC22A5):c.1585G>T (p.Gly529Ter)	SLC22A5 (G529* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GLikely pathogenic
Select item 3246306	NC_000005.9:g.(?_131726438)_(131728974_?)del	SLC22A5	Deletion	Renal carnitine transport defect	GPathogenic
Select item 3246305	NC_000005.9:g.(?_131705778)_(131706791_?)del	SLC22A5	Deletion	Renal carnitine transport defect	GPathogenic
Select item 3246304	NC_000005.9:g.(?_131726362)_(131729964_?)del	SLC22A5	Deletion	Renal carnitine transport defect	GPathogenic
Select item 3246303	NC_000005.9:g.(?_131724593)_(131728327_?)del	SLC22A5	Deletion	Renal carnitine transport defect	GPathogenic
Select item 3246302	NC_000005.9:g.(?_131721179)_(131726510_?)del	SLC22A5	Deletion	Renal carnitine transport defect	GPathogenic
Select item 3246301	NC_000005.9:g.(?_131721000)_(131721211_?)del	SLC22A5	Deletion	Renal carnitine transport defect	GPathogenic
Select item 3246300	NC_000005.9:g.(?_131719819)_(131720013_?)del	SLC22A5	Deletion	Renal carnitine transport defect	GPathogenic
Select item 3240475	NM_003060.4(SLC22A5):c.768G>A (p.Trp256Ter)	SLC22A5 (W256* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GPathogenic
Select item 3240474	NM_003060.4(SLC22A5):c.292G>T (p.Glu98Ter)	SLC22A5 (E98*)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GLikely pathogenic
Select item 3239697	NM_003060.4(SLC22A5):c.805_811del (p.Leu269fs)	SLC22A5 (L269fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 3021838	NM_003060.4(SLC22A5):c.345T>C (p.Asp115=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 3020147	NM_003060.4(SLC22A5):c.952-15_952-14insCGTATGA	SLC22A5	Insertion (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 3019894	NM_003060.4(SLC22A5):c.394-15T>G	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 3018198	NM_003060.4(SLC22A5):c.1053-16C>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 3017701	NM_003060.4(SLC22A5):c.952-10_952-8del	SLC22A5	Microsatellite (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 3014408	NM_003060.4(SLC22A5):c.1053-20T>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 3012971	NM_003060.4(SLC22A5):c.1267+14G>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 3009533	NM_003060.4(SLC22A5):c.497+7T>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 3003153	NM_003060.4(SLC22A5):c.45G>C (p.Gly15=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 3003152	NM_003060.4(SLC22A5):c.27C>T (p.Ala9=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 3001793	NM_003060.4(SLC22A5):c.1587-12T>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2996981	NM_003060.4(SLC22A5):c.1451-11C>G	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2995938	NM_003060.4(SLC22A5):c.1587-18T>G	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2993624	NM_003060.4(SLC22A5):c.824+14T>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2991747	NM_003060.4(SLC22A5):c.1268-16del	SLC22A5	Deletion (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2990754	NM_003060.4(SLC22A5):c.1225C>T (p.Leu409=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2975848	NM_003060.4(SLC22A5):c.393+17G>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2966765	NM_003060.4(SLC22A5):c.666T>A (p.Leu222=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2961190	NM_003060.4(SLC22A5):c.132G>C (p.Ala44=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2958227	NM_003060.4(SLC22A5):c.1536C>T (p.Ser512=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2956217	NM_003060.4(SLC22A5):c.930C>T (p.Ser310=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2955851	NM_003060.4(SLC22A5):c.35_36delinsAT (p.Gly12Asp)	SLC22A5 (G12D)	Indel (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 2916364	NM_003060.4(SLC22A5):c.136C>G (p.Pro46Ala)	SLC22A5 (P46A)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 2913829	NM_003060.4(SLC22A5):c.272A>C (p.Asn91Thr)	SLC22A5 (N91T)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 2912719	NM_003060.4(SLC22A5):c.1586+1G>A	SLC22A5	Single nucleotide variant (splice donor variant)	Renal carnitine transport defect	GPathogenic
Select item 2911956	NM_003060.4(SLC22A5):c.825-8A>G	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2911308	NM_003060.4(SLC22A5):c.1450+20G>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2909353	NM_003060.4(SLC22A5):c.497+9T>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2908761	NM_003060.4(SLC22A5):c.372C>T (p.Tyr124=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2908392	NM_003060.4(SLC22A5):c.165C>T (p.Ala55=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2905465	NM_003060.4(SLC22A5):c.393+12C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2905173	NM_003060.4(SLC22A5):c.1586+11C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2904129	NM_003060.4(SLC22A5):c.825-19T>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2902849	NM_003060.4(SLC22A5):c.1053-19C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2898427	NM_003060.4(SLC22A5):c.1076T>C (p.Phe359Ser)	SLC22A5 (F383S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 2897476	NM_003060.4(SLC22A5):c.70C>T (p.Leu24=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2895645	NM_003060.4(SLC22A5):c.1586+19T>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2889601	NM_003060.4(SLC22A5):c.36C>T (p.Gly12=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2888399	NM_003060.4(SLC22A5):c.1451-5C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2887910	NM_003060.4(SLC22A5):c.279G>T (p.Ser93=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2879544	NM_003060.4(SLC22A5):c.393+15C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2879041	NM_003060.4(SLC22A5):c.1446C>T (p.Tyr482=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2875908	NM_003060.4(SLC22A5):c.1326C>T (p.Ala442=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2873845	NM_003060.4(SLC22A5):c.78C>G (p.Ser26Arg)	SLC22A5 (S26R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 2863597	NM_003060.4(SLC22A5):c.1587-8T>G	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2861563	NM_003060.4(SLC22A5):c.111G>A (p.Leu37=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2859794	NM_003060.4(SLC22A5):c.824+15G>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2859310	NM_003060.4(SLC22A5):c.951+14G>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2856399	NM_003060.4(SLC22A5):c.1239C>T (p.Val413=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2856051	NM_003060.4(SLC22A5):c.952-1G>T	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 2856004	NM_003060.4(SLC22A5):c.373C>T (p.Leu125=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2855905	NM_003060.4(SLC22A5):c.824+12C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2855490	NM_003060.4(SLC22A5):c.300G>C (p.Gly100=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2853233	NM_003060.4(SLC22A5):c.653-2A>G	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect	GPathogenic
Select item 2852182	NM_003060.4(SLC22A5):c.652+1G>T	SLC22A5	Single nucleotide variant (splice donor variant)	Renal carnitine transport defect	GPathogenic
Select item 2851364	NM_003060.4(SLC22A5):c.1450+7C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2850377	NM_003060.4(SLC22A5):c.87C>A (p.Ile29=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2848965	NM_003060.4(SLC22A5):c.1323T>C (p.Ala441=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2843727	NM_003060.4(SLC22A5):c.671del (p.Lys224fs)	SLC22A5 (K224fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 2842688	NM_003060.4(SLC22A5):c.497+19G>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2838723	NM_003060.4(SLC22A5):c.1053-17T>G	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2836344	NM_003060.4(SLC22A5):c.1127_1130del (p.Cys376fs)	SLC22A5 (C376fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 2835402	NM_003060.4(SLC22A5):c.426C>G (p.Ala142=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2835146	NM_003060.4(SLC22A5):c.1052+11G>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2835016	NM_003060.4(SLC22A5):c.952-19T>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2834870	NM_003060.4(SLC22A5):c.31C>T (p.Leu11=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2832494	NM_003060.4(SLC22A5):c.1638A>G (p.Gln546=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2830416	NM_003060.4(SLC22A5):c.824+16T>C	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2830139	NM_003060.4(SLC22A5):c.1425C>T (p.Ile475=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2825804	NM_003060.4(SLC22A5):c.43G>A (p.Gly15Arg)	SLC22A5 (G15R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 2823461	NM_003060.4(SLC22A5):c.620A>G (p.Gln207Arg)	SLC22A5 (Q231R +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic
Select item 2823334	NM_003060.4(SLC22A5):c.517C>T (p.Leu173=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2822526	NM_003060.4(SLC22A5):c.95del (p.Asn32fs)	SLC22A5 (N32fs)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 2822517	NM_003060.4(SLC22A5):c.1581C>G (p.Val527=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2821436	NM_003060.4(SLC22A5):c.1587-13C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2819878	NM_003060.4(SLC22A5):c.394-12C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2816401	NM_003060.4(SLC22A5):c.90C>T (p.Ile30=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2813126	NM_003060.4(SLC22A5):c.561G>A (p.Gln187=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2812902	NM_003060.4(SLC22A5):c.1462del (p.Arg488fs)	SLC22A5 (R488fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 2810987	NM_003060.4(SLC22A5):c.20_21insCCGGT (p.Thr8fs)	SLC22A5 (T8fs)	Insertion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 2810696	NM_003060.4(SLC22A5):c.453G>C (p.Val151=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2808496	NM_003060.4(SLC22A5):c.120G>A (p.Val40=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2805370	NM_003060.4(SLC22A5):c.153G>C (p.Arg51=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2804595	NM_003060.4(SLC22A5):c.394-9A>G	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GLikely benign
Select item 2801515	NM_003060.4(SLC22A5):c.1461C>T (p.Asp487=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2797749	NM_003060.4(SLC22A5):c.675A>C (p.Ser225=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2795589	NM_003060.4(SLC22A5):c.1411_1426dup (p.Leu476fs)	SLC22A5 (L476fs +1 more)	Duplication (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 2795296	NM_003060.4(SLC22A5):c.204A>G (p.Pro68=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2793067	NM_003060.4(SLC22A5):c.720A>G (p.Ala240=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign

<< First< Prev

Page of 10