ClinVar for MedGen (Select 339902) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068330	NM_005445.4(SMC3):c.1480del (p.Gln494fs)	SMC3 (Q494fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 3068054	NM_005445.4(SMC3):c.1900C>T (p.Arg634Cys)	SMC3 (R634C)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 3061883	NM_005445.4(SMC3):c.463A>G (p.Arg155Gly)	SMC3 (R155G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 3022746	NM_005445.4(SMC3):c.131-20A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 3014084	NM_005445.4(SMC3):c.3583-19T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 3013200	NM_005445.4(SMC3):c.1509+4G>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 3004560	NM_005445.4(SMC3):c.3411T>C (p.Ala1137=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 3004129	NM_005445.4(SMC3):c.3411T>A (p.Ala1137=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2997116	NM_005445.4(SMC3):c.1445C>A (p.Ala482Glu)	SMC3 (A482E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2991107	NM_005445.4(SMC3):c.3528G>A (p.Arg1176=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2986103	NM_005445.4(SMC3):c.1964-17A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2983599	NM_005445.4(SMC3):c.350+21del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GBenign
Select item 2964448	NM_005445.4(SMC3):c.351-13T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2962969	NM_005445.4(SMC3):c.3549T>C (p.Ala1183=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2959148	NM_005445.4(SMC3):c.1772A>C (p.Asn591Thr)	SMC3 (N591T)	Single nucleotide variant (missense variant)	SMC3-related condition +1 more	GUncertain significance
Select item 2920029	NM_005445.4(SMC3):c.271-12A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2919949	NM_005445.4(SMC3):c.1797C>A (p.Ala599=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2918444	NM_005445.4(SMC3):c.2733T>C (p.His911=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2918379	NM_005445.4(SMC3):c.92-18del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2917790	NM_005445.4(SMC3):c.1510-7C>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2916811	NM_005445.4(SMC3):c.1575C>T (p.Asn525=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2915308	NM_005445.4(SMC3):c.1409+19G>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2910555	NM_005445.4(SMC3):c.724-15T>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2908391	NM_005445.4(SMC3):c.2835A>G (p.Glu945=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2906842	NM_005445.4(SMC3):c.264G>T (p.Arg88=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2906824	NM_005445.4(SMC3):c.1783G>A (p.Val595Ile)	SMC3 (V595I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2905111	NM_005445.4(SMC3):c.3072G>T (p.Arg1024=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2905044	NM_005445.4(SMC3):c.15+5_15+12del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2902072	NM_005445.4(SMC3):c.2116+10T>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2900961	NM_005445.4(SMC3):c.2102G>A (p.Arg701His)	SMC3 (R701H)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2893455	NM_005445.4(SMC3):c.16-16G>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2889336	NM_005445.4(SMC3):c.548-8C>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2888187	NM_005445.4(SMC3):c.2226A>G (p.Leu742=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2887443	NM_005445.4(SMC3):c.548-8C>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2886320	NM_005445.4(SMC3):c.3231T>A (p.Ser1077Arg)	SMC3 (S1077R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2885545	NM_005445.4(SMC3):c.2535+15_2535+16insG	SMC3	Insertion (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2884884	NM_005445.4(SMC3):c.2535+9G>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2884179	NM_005445.4(SMC3):c.1338T>C (p.Ala446=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2882407	NM_005445.4(SMC3):c.2645-8del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GBenign
Select item 2882246	NM_005445.4(SMC3):c.273C>T (p.Ile91=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2882234	NM_005445.4(SMC3):c.130+17G>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2880162	NM_005445.4(SMC3):c.1538A>G (p.Asn513Ser)	SMC3 (N513S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2876223	NM_005445.4(SMC3):c.1101A>G (p.Gln367=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2872974	NM_005445.4(SMC3):c.131-3C>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2871536	NM_005445.4(SMC3):c.429+19C>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2871466	NM_005445.4(SMC3):c.3106-10T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2869888	NM_005445.4(SMC3):c.2535+13T>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2863548	NM_005445.4(SMC3):c.3212_3214del (p.Gly1071del)	SMC3 (G1071del)	Deletion (inframe_deletion)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2863172	NM_005445.4(SMC3):c.3252A>G (p.Gln1084=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2859080	NM_005445.4(SMC3):c.1410-11_1410-6del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2851444	NM_005445.4(SMC3):c.270+18del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GBenign
Select item 2840806	NM_005445.4(SMC3):c.588T>C (p.Ile196=)	SMC3	Single nucleotide variant (synonymous variant)	SMC3-related condition +1 more	GLikely benign
Select item 2832899	NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro)	SMC3 (S864P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 2825262	NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu)	SMC3 (G502E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2818098	NM_005445.4(SMC3):c.3534A>G (p.Glu1178=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2814703	NM_005445.4(SMC3):c.8T>G (p.Ile3Arg)	SMC3 (I3R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2812077	NM_005445.4(SMC3):c.15+8C>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2807566	NM_005445.4(SMC3):c.350+12T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2791733	NM_005445.4(SMC3):c.3475+12G>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2787328	NM_005445.4(SMC3):c.945A>G (p.Glu315=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2785816	NM_005445.4(SMC3):c.1509+5G>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2784079	NM_005445.4(SMC3):c.2899C>T (p.Arg967Ter)	SMC3 (R967*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2783995	NM_005445.4(SMC3):c.350+19T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2776414	NM_005445.4(SMC3):c.430-3T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2766494	NM_005445.4(SMC3):c.1509+16del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GBenign
Select item 2759256	NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)	SMC3 (T783P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 2749565	NM_005445.4(SMC3):c.3530C>G (p.Pro1177Arg)	SMC3 (P1177R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2742184	NM_005445.4(SMC3):c.429+9A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2740796	NM_005445.4(SMC3):c.2428-6T>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2739708	NM_005445.4(SMC3):c.429+19C>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2739703	NM_005445.4(SMC3):c.429+16G>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2738012	NM_005445.4(SMC3):c.969+14C>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2736064	NM_005445.4(SMC3):c.1113A>G (p.Glu371=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2735489	NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)	SMC3 (L631P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GPathogenic
Select item 2731450	NM_005445.4(SMC3):c.993G>C (p.Gln331His)	SMC3 (Q331H)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2729226	NM_005445.4(SMC3):c.1964-13G>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2725602	NM_005445.4(SMC3):c.547+6A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2721284	NM_005445.4(SMC3):c.1393C>T (p.Leu465=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2716866	NM_005445.4(SMC3):c.381C>T (p.Ser127=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2716605	NM_005445.4(SMC3):c.1480_1481dup (p.Gln494fs)	SMC3 (Q494fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2716384	NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)	SMC3 (R88Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2715795	NM_005445.4(SMC3):c.2268+5G>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2714787	NM_005445.4(SMC3):c.1409+20_1409+21del	SMC3	Microsatellite (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2712576	NM_005445.4(SMC3):c.3105+3A>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2695487	NM_005445.4(SMC3):c.723+6A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2695095	NM_005445.4(SMC3):c.2530G>T (p.Glu844Ter)	SMC3 (E844*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2693611	NM_005445.4(SMC3):c.3183T>A (p.Asp1061Glu)	SMC3 (D1061E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2687784	NM_005445.4(SMC3):c.2535+1G>A	SMC3	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 3	Gnot provided
Select item 2687782	NM_005445.4(SMC3):c.435C>A (p.Asn145Lys)	SMC3 (N145K)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 2664940	NM_005445.4(SMC3):c.1861A>T (p.Lys621Ter)	SMC3 (K621*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2640830	NM_005445.4(SMC3):c.3408G>A (p.Pro1136=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3 +1 more	GLikely benign
Select item 2576559	NM_005445.4(SMC3):c.707G>A (p.Arg236His)	SMC3 (R236H)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 2572442	NM_005445.4(SMC3):c.2018A>G (p.Lys673Arg)	SMC3 (K673R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2442384	NM_005445.4(SMC3):c.3625_3630dup (p.Val1210_Glu1211insPheVal)	SMC3	Duplication (inframe_insertion)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 2436146	NM_005445.4(SMC3):c.1692T>A (p.Asp564Glu)	SMC3 (D564E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2436145	NM_005445.4(SMC3):c.2569A>G (p.Thr857Ala)	SMC3 (T857A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2425354	NC_000010.10:g.(?_111860412)_(112839579_?)dup	ADD3, ADRA2A +8 more	Duplication	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2418988	NM_005445.4(SMC3):c.1050A>G (p.Lys350=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2199037	NM_005445.4(SMC3):c.3105+15G>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2191875	NM_005445.4(SMC3):c.1119G>A (p.Thr373=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign

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