ClinVar for MedGen (Select 231160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358973	NM_003036.4(SKI):c.486A>C (p.Lys162Asn)	SKI (K162N)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3254611	NM_003036.4(SKI):c.1855C>T (p.Leu619Phe)	SKI (L619F)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3247721	NC_000001.10:g.(?_2160206)_(2161194_?)dup	SKI	Duplication	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3022401	NM_003036.4(SKI):c.1104C>T (p.Gly368=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3020437	NM_003036.4(SKI):c.1768-8G>T	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3018068	NM_003036.4(SKI):c.1482C>T (p.Ser494=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3016426	NM_003036.4(SKI):c.718C>G (p.Pro240Ala)	SKI (P240A)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3015585	NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)	SKI (R634Q)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3009122	NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)	SKI (T505I)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3007694	NM_003036.4(SKI):c.1230C>T (p.Ser410=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 3006042	NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)	SKI (A686G)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3003430	NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)	SKI (F492S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2998173	NM_003036.4(SKI):c.1326C>T (p.Ala442=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2992218	NM_003036.4(SKI):c.2166C>T (p.Gly722=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2991624	NM_003036.4(SKI):c.453G>A (p.Ser151=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2990592	NM_003036.4(SKI):c.468C>T (p.Asp156=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2986918	NM_003036.4(SKI):c.1601C>T (p.Ala534Val)	SKI (A534V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2985150	NM_003036.4(SKI):c.1998+1G>T	SKI	Single nucleotide variant (splice donor variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2984013	NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)	SKI (P465L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2982161	NM_003036.4(SKI):c.763C>T (p.Pro255Ser)	SKI (P255S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2980506	NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)	SKI (L393F)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2978014	NM_003036.4(SKI):c.525G>A (p.Gly175=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2976100	NM_003036.4(SKI):c.765G>C (p.Pro255=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2970913	NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)	SKI (P344S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +1 more	GUncertain significance
Select item 2958258	NM_003036.4(SKI):c.217G>A (p.Val73Met)	SKI (V73M)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2921210	NM_003036.4(SKI):c.1474+8_1474+9del	SKI	Microsatellite (intron variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2919358	NM_003036.4(SKI):c.220C>G (p.Leu74Val)	SKI (L74V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2918727	NM_003036.4(SKI):c.200C>T (p.Ala67Val)	SKI (A67V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2916161	NM_003036.4(SKI):c.360C>A (p.Arg120=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2915333	NM_003036.4(SKI):c.786C>T (p.His262=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2912376	NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)	SKI (A528P)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2910958	NM_003036.4(SKI):c.1096-15A>G	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2910671	NM_003036.4(SKI):c.742C>T (p.Leu248=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2910409	NM_003036.4(SKI):c.1095+17C>T	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2907337	NM_003036.4(SKI):c.442A>G (p.Ile148Val)	SKI (I148V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2907083	NM_003036.4(SKI):c.1125C>A (p.Arg375=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2902850	NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)	SKI (S495del)	Microsatellite (inframe_deletion)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2902499	NM_003036.4(SKI):c.970-4G>A	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2902212	NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)	SKI (R690Q)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2899722	NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)	SKI (R714L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2896864	NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)	SKI (P433R)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2895234	NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)	SKI (K576Q)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2893736	NM_003036.4(SKI):c.522C>T (p.Cys174=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2893477	NM_003036.4(SKI):c.2082C>T (p.Ala694=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2892611	NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)	SKI	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2884570	NM_003036.4(SKI):c.1096-8C>G	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2884145	NM_003036.4(SKI):c.1999-14C>T	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2882145	NM_003036.4(SKI):c.178G>C (p.Val60Leu)	SKI (V60L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2881215	NM_003036.4(SKI):c.628G>T (p.Gly210Cys)	SKI (G210C)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2879688	NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)	SKI (L376F)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2876440	NM_003036.4(SKI):c.1095+10G>A	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2873492	NM_003036.4(SKI):c.282C>G (p.Ser94=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2873310	NM_003036.4(SKI):c.183G>T (p.Pro61=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2868960	NM_003036.4(SKI):c.35A>T (p.Gln12Leu)	SKI (Q12L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2867193	NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)	SKI (R685W)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2865607	NM_003036.4(SKI):c.1768-4C>G	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2858917	NM_003036.4(SKI):c.84C>T (p.Ser28=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2858464	NM_003036.4(SKI):c.951C>T (p.Tyr317=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2853745	NM_003036.4(SKI):c.1128C>A (p.Leu376=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2849656	NM_003036.4(SKI):c.57G>A (p.Lys19=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2840853	NM_003036.4(SKI):c.1096-6C>G	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2839612	NM_003036.4(SKI):c.1095+20G>T	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2837272	NM_003036.4(SKI):c.921G>A (p.Val307=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2834636	NM_003036.4(SKI):c.1376T>G (p.Val459Gly)	SKI (V459G)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2833305	NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)	SKI (Y313N)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2831328	NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)	SKI (E490G)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2830706	NM_003036.4(SKI):c.2067G>A (p.Leu689=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2823298	NM_003036.4(SKI):c.272T>G (p.Phe91Cys)	SKI (F91C)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2822395	NM_003036.4(SKI):c.206A>G (p.Glu69Gly)	SKI (E69G)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2821201	NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)	SKI (S523A)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2815775	NM_003036.4(SKI):c.729C>T (p.Ala243=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2796521	NM_003036.4(SKI):c.1653C>T (p.Gly551=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2794141	NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)	SKI (K478N)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2788720	NM_003036.4(SKI):c.36G>C (p.Gln12His)	SKI (Q12H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2787530	NM_003036.4(SKI):c.184G>T (p.Ala62Ser)	SKI (A62S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2786743	NM_003036.4(SKI):c.1539G>T (p.Leu513=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2786225	NM_003036.4(SKI):c.196G>A (p.Ala66Thr)	SKI (A66T)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2781271	NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)	SKI (V64S)	Indel (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2776253	NM_003036.4(SKI):c.2103G>A (p.Val701=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2772107	NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)	SKI (G552R)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2769477	NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)	SKI (A414S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2767297	NM_003036.4(SKI):c.1298del (p.Pro433fs)	SKI (P433fs)	Deletion (frameshift variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2761897	NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)	SKI (A528S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2760444	NM_003036.4(SKI):c.759G>T (p.Met253Ile)	SKI (M253I)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2755216	NM_003036.4(SKI):c.383A>T (p.Asn128Ile)	SKI (N128I)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2754640	NM_003036.4(SKI):c.723C>A (p.Ser241Arg)	SKI (S241R)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2754328	NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)	SKI (E348A)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2752432	NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)	SKI (P372S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2749720	NM_003036.4(SKI):c.471G>C (p.Gln157His)	SKI (Q157H)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2747228	NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)	SKI	Insertion (inframe_indel)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2746486	NM_003036.4(SKI):c.1308C>A (p.Ala436=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2745444	NM_003036.4(SKI):c.1647G>C (p.Leu549=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2741303	NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)	SKI (A66P)	Indel (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2740018	NM_003036.4(SKI):c.924G>A (p.Lys308=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2738695	NM_003036.4(SKI):c.672C>T (p.Cys224=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2731508	NM_003036.4(SKI):c.2139C>T (p.Ala713=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2731200	NM_003036.4(SKI):c.585C>T (p.Tyr195=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 2728010	NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)	SKI (E678K)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2727519	NM_003036.4(SKI):c.987G>C (p.Pro329=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome	GLikely benign

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