ClinVar for MedGen (Select 2001) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 784

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338670	NM_000501.4(ELN):c.339del (p.Gly114fs)	ELN (G102fs +2 more)	Deletion (frameshift variant)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 3254767	NM_000501.4(ELN):c.133+1G>T	ELN	Single nucleotide variant (splice donor variant)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 3245621	NC_000007.13:g.(?_73452025)_(73457014_?)del	ELN	Deletion	Supravalvar aortic stenosis	GLikely pathogenic
Select item 3245620	NC_000007.13:g.(?_73480004)_(73483030_?)del	ELN	Deletion	Supravalvar aortic stenosis	GPathogenic
Select item 3245619	NC_000007.13:g.(?_73480004)_(73480347_?)del	ELN	Deletion	Supravalvar aortic stenosis	GUncertain significance
Select item 3242205	NM_000501.4(ELN):c.216dup (p.Ala73fs)	ELN (A63fs +1 more)	Duplication (frameshift variant +1 more)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 3238828	NM_000501.4(ELN):c.1747+2delinsGAGTTAG	ELN, ELN-AS1	Indel (nonsense +2 more)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 3076023	NM_000501.4(ELN):c.1957G>T (p.Gly653Ter)	ELN (G643* +11 more)	Single nucleotide variant (nonsense)	Supravalvar aortic stenosis	GPathogenic
Select item 3065893	NM_000501.4(ELN):c.1020_1049del (p.Val341_Gly350del)	ELN	Deletion (inframe_deletion)	Supravalvar aortic stenosis	GUncertain significance
Select item 3021010	NM_000501.4(ELN):c.541+14T>C	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 3017581	NM_000501.4(ELN):c.376+4C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 3017468	NM_000501.4(ELN):c.117A>T (p.Gly39=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 3014546	NM_000501.4(ELN):c.572-19G>A	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 3013342	NM_000501.4(ELN):c.18G>C (p.Ala6=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 3011406	NM_000501.4(ELN):c.2086+15C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 3010196	NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs)	ELN (A180fs +3 more)	Indel (frameshift variant +1 more)	Supravalvar aortic stenosis	GPathogenic
Select item 3009798	NM_000501.4(ELN):c.542-10A>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 3004867	NM_000501.4(ELN):c.644-17CT[4]	ELN	Microsatellite (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 3001199	NM_000501.4(ELN):c.1747+56C>T	ELN, ELN-AS1	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2990896	NM_000501.4(ELN):c.1747+15G>C	ELN, ELN-AS1 (V617L)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2990252	NM_000501.4(ELN):c.196+17C>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2990191	NM_000501.4(ELN):c.809_817del (p.Ala270_Gly272del)	ELN	Deletion (inframe_deletion)	Supravalvar aortic stenosis	GUncertain significance
Select item 2987685	NM_000501.4(ELN):c.1292G>T (p.Gly431Val)	ELN (G417V +4 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2985340	NM_000501.4(ELN):c.1747+93C>T	ELN, ELN-AS1 (P643S)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2984539	NM_000501.4(ELN):c.238G>A (p.Gly80Ser)	ELN (G80S +2 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2983028	NM_000501.4(ELN):c.685+18A>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2967786	NM_000501.4(ELN):c.1747+85C>T	ELN, ELN-AS1 (P640L)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2958782	NM_000501.4(ELN):c.1648_1674del (p.Ile550_Gly558del)	ELN, ELN-AS1	Deletion (inframe_deletion)	Supravalvar aortic stenosis	GUncertain significance
Select item 2955130	NM_000501.4(ELN):c.542-1G>C	ELN	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2920522	NM_000501.4(ELN):c.799+6T>A	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2917416	NM_000501.4(ELN):c.1407C>A (p.Ala469=)	ELN	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2917357	NM_000501.4(ELN):c.1036G>A (p.Val346Ile)	ELN (V302I +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2917076	NM_000501.4(ELN):c.1132G>A (p.Ala378Thr)	ELN (A334T +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2915879	NM_000501.4(ELN):c.746-2A>T	ELN	Single nucleotide variant (splice acceptor variant)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 2914050	NM_000501.4(ELN):c.1358-276A>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2913649	NM_000501.4(ELN):c.1131T>C (p.Ala377=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GBenign
Select item 2913467	NM_000501.4(ELN):c.1358-262C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2912931	NM_000501.4(ELN):c.741G>T (p.Gly247=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2912465	NM_000501.4(ELN):c.949+11C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2909888	NM_000501.4(ELN):c.762AGC[3] (p.Ala260del)	ELN (A246del +6 more)	Microsatellite (inframe_deletion)	Supravalvar aortic stenosis	GUncertain significance
Select item 2905855	NM_000501.4(ELN):c.635A>G (p.Lys212Arg)	ELN (K168R +5 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2905379	NM_000501.4(ELN):c.746-7C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2903500	NC_000007.14:g.74043883_74043897del	ELN	Deletion	Supravalvar aortic stenosis	GUncertain significance
Select item 2902539	NM_000501.4(ELN):c.1315C>T (p.Pro439Ser)	ELN (P439S +4 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2900658	NM_000501.4(ELN):c.1434_1469del (p.479VAPGVG[1])	ELN, ELN-AS1	Deletion (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2899753	NM_000501.4(ELN):c.87C>T (p.Val29=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2899115	NM_000501.4(ELN):c.1316-13C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2898879	NM_000501.4(ELN):c.1358-191G>A	ELN	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2898254	NM_000501.4(ELN):c.1532C>T (p.Pro511Leu)	ELN, ELN-AS1 (P478L +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2898039	NM_000501.4(ELN):c.889+6A>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2896140	NM_000501.4(ELN):c.83-20C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2894197	NM_000501.4(ELN):c.1034_1087dup (p.Ala362_Ala363insGlyValProGlyAlaGlyIleProValValProGlyAlaGlyIleProGlyAla)	ELN	Duplication (inframe_insertion)	Supravalvar aortic stenosis	GUncertain significance
Select item 2892955	NM_000501.4(ELN):c.384G>T (p.Val128=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2891609	NM_000501.4(ELN):c.1028G>A (p.Gly343Asp)	ELN (G299D +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2891252	NM_000501.4(ELN):c.1564G>C (p.Gly522Arg)	ELN, ELN-AS1 (G489R +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2891239	NM_000501.4(ELN):c.2033-11C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2890288	NM_000501.4(ELN):c.1747+32C>T	ELN, ELN-AS1	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2890146	NM_000501.4(ELN):c.138T>C (p.Ala46=)	ELN	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2883674	NM_000501.4(ELN):c.1827C>T (p.Leu609=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2883390	NM_000501.4(ELN):c.891C>T (p.Gly297=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2880288	NM_000501.4(ELN):c.1559G>A (p.Gly520Asp)	ELN, ELN-AS1 (G431D +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2878172	NM_000501.4(ELN):c.1806C>G (p.Val602=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2877032	NM_000501.4(ELN):c.1747+104A>G	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2873171	NM_000501.4(ELN):c.585T>C (p.Phe195=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2870500	NM_000501.4(ELN):c.863C>T (p.Ala288Val)	ELN (A278V +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2864151	NM_000501.4(ELN):c.377-16G>A	ELN	Single nucleotide variant (splice acceptor variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2862193	NM_000501.4(ELN):c.205G>C (p.Gly69Arg)	ELN (G59R +1 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2859412	NM_000501.4(ELN):c.1432G>A (p.Gly478Ser)	ELN, ELN-AS1 (G454S +11 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2858372	NM_000501.4(ELN):c.1858+16A>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2857901	NM_000501.4(ELN):c.1215C>T (p.Pro405=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2857161	NM_000501.4(ELN):c.889G>A (p.Gly297Ser)	ELN (G292S +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2855305	NM_000501.4(ELN):c.1576+2T>A	ELN, ELN-AS1	Single nucleotide variant (splice donor variant)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 2854899	NM_000501.4(ELN):c.326-16T>C	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2854541	NM_000501.4(ELN):c.2014G>A (p.Ala672Thr)	ELN (A591T +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2852153	NM_000501.4(ELN):c.745+16C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2849401	NM_000501.4(ELN):c.1383_1394del (p.462AKAA[1])	ELN	Deletion (inframe_deletion +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2847473	NM_000501.4(ELN):c.1378G>A (p.Ala460Thr)	ELN (A450T +3 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2845478	NM_000501.4(ELN):c.1803G>T (p.Gly601=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2845332	NM_000501.4(ELN):c.662dup (p.Tyr221Ter)	ELN (Y211* +4 more)	Duplication (nonsense +1 more)	Supravalvar aortic stenosis	GPathogenic
Select item 2839698	NM_000501.4(ELN):c.1372G>A (p.Ala458Thr)	ELN (A448T +3 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2836391	NM_000501.4(ELN):c.1509G>T (p.Val503=)	ELN, ELN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2832881	NM_000501.4(ELN):c.2033-1G>C	ELN	Single nucleotide variant (intron variant +1 more)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 2827801	NM_000501.4(ELN):c.196+5G>A	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2824949	NM_000501.4(ELN):c.671G>A (p.Gly224Glu)	ELN (G180E +4 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2822547	NM_000501.4(ELN):c.1484T>C (p.Val495Ala)	ELN, ELN-AS1 (V462A +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2821064	NM_000501.4(ELN):c.786del (p.Ala263fs)	ELN (A219fs +6 more)	Deletion (frameshift variant)	Supravalvar aortic stenosis	GPathogenic
Select item 2818445	NM_000501.4(ELN):c.14C>G (p.Thr5Arg)	ELN (T5R)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2816239	NM_000501.4(ELN):c.775del (p.Ala259fs)	ELN (A249fs +6 more)	Deletion (frameshift variant)	Supravalvar aortic stenosis	GPathogenic
Select item 2815236	NM_000501.4(ELN):c.232+14C>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2815116	NM_000501.4(ELN):c.660del (p.Tyr221fs)	ELN (Y221fs +4 more)	Deletion (frameshift variant +1 more)	Supravalvar aortic stenosis	GPathogenic
Select item 2812631	NM_000501.4(ELN):c.215G>T (p.Gly72Val)	ELN (G62V +1 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2811351	NM_000501.4(ELN):c.644G>A (p.Gly215Asp)	ELN (G205D +4 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2811144	NM_000501.4(ELN):c.1217dup (p.Phe407fs)	ELN (F363fs +6 more)	Duplication (frameshift variant)	Supravalvar aortic stenosis	GPathogenic
Select item 2802308	NM_000501.4(ELN):c.427+8C>A	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2799749	NM_000501.4(ELN):c.889+16G>A	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2792572	NM_000501.4(ELN):c.685+11C>A	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2778493	NM_000501.4(ELN):c.814G>A (p.Gly272Arg)	ELN (G262R +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2773235	NM_000501.4(ELN):c.1881T>A (p.Ala627=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2771516	NM_000501.4(ELN):c.2114T>C (p.Leu705Ser)	ELN (L624S +12 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2770177	NM_000501.4(ELN):c.1994-6C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign

<< First< Prev

Page of 8