ClinVar for Gene (Select 8910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375435	NM_003919.3(SGCE):c.233-17C>A	CASD1, SGCE	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3339221	NM_003919.3(SGCE):c.1253+821G>A	CASD1, SGCE (G435D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3336948	NM_003919.3(SGCE):c.185T>G (p.Leu62Trp)	CASD1, SGCE (L33W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3317914	NM_003919.3(SGCE):c.1173C>G (p.His391Gln)	CASD1, SGCE (H391Q +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317913	NM_003919.3(SGCE):c.82G>T (p.Ala28Ser)	SGCE (A28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3256799	NM_003919.3(SGCE):c.391-908T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3251061	NM_003919.3(SGCE):c.347G>T (p.Gly116Val)	CASD1, SGCE (G116V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250852	NM_003919.3(SGCE):c.463+715G>A	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3250833	NM_003919.3(SGCE):c.1297+945T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3245692	NC_000007.13:g.(?_94024344)_(94285410_?)del	CASD1, COL1A2 +1 more	Deletion	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3160987	NM_003919.3(SGCE):c.868C>T (p.Arg290Cys)	CASD1, SGCE (R199C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068668	NM_003919.3(SGCE):c.677T>A (p.Val226Asp)	CASD1, SGCE (V135D +4 more)	Single nucleotide variant (missense variant)	Myoclonus-dystonia syndrome	GUncertain significance
Select item 3064385	NM_003919.3(SGCE):c.1163del (p.Pro388fs)	CASD1, SGCE (P288fs +9 more)	Deletion (frameshift variant)	Myoclonic dystonia 11	GLikely pathogenic
Select item 3059877	NM_003919.3(SGCE):c.1253+766_1253+767del	CASD1, SGCE	Deletion (intron variant)	SGCE-related disorder	GLikely benign
Select item 3042525	NM_003919.3(SGCE):c.1253+766_1253+767dup	CASD1, SGCE	Duplication (intron variant)	SGCE-related disorder	GBenign
Select item 3021840	NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)	CASD1, SGCE (R301* +4 more)	Single nucleotide variant (nonsense)	Myoclonic dystonia 11	GPathogenic
Select item 3021760	NM_003919.3(SGCE):c.380C>G (p.Thr127Arg)	CASD1, SGCE (T163R +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 3015124	NM_003919.3(SGCE):c.484G>A (p.Ala162Thr)	CASD1, SGCE (A198T +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2996368	NM_003919.3(SGCE):c.1155A>G (p.Ser385=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2993572	NM_003919.3(SGCE):c.246T>C (p.Asn82=)	CASD1, SGCE	Single nucleotide variant (synonymous variant +1 more)	Myoclonic dystonia 11	GLikely benign
Select item 2990376	NM_003919.3(SGCE):c.890A>G (p.Asp297Gly)	CASD1, SGCE (D206G +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2981198	NM_003919.3(SGCE):c.28G>T (p.Gly10Ter)	SGCE (G10*)	Single nucleotide variant (nonsense +1 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2970943	NM_003919.3(SGCE):c.463+12A>T	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2969986	NM_003919.3(SGCE):c.1294A>G (p.Thr432Ala)	CASD1, SGCE (T391A +10 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2959483	NM_003919.3(SGCE):c.390+12C>G	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2956612	NM_003919.3(SGCE):c.636A>G (p.Pro212=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GBenign
Select item 2956367	NM_003919.3(SGCE):c.557C>T (p.Ala186Val)	CASD1, SGCE (A157V +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2918030	NM_003919.3(SGCE):c.826-4T>G	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2917211	NM_003919.3(SGCE):c.643A>G (p.Ile215Val)	CASD1, SGCE (I215V +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2916591	NM_003919.3(SGCE):c.263A>G (p.Asn88Ser)	CASD1, SGCE (N47S +3 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2915241	NM_003919.3(SGCE):c.1178T>C (p.Val393Ala)	CASD1, SGCE (V302A +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2910239	NM_003919.3(SGCE):c.557C>G (p.Ala186Gly)	CASD1, SGCE (A145G +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2898822	NM_003919.3(SGCE):c.538C>A (p.Leu180Ile)	CASD1, SGCE (L89I +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2898821	NM_003919.3(SGCE):c.1064+14T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2897026	NM_003919.3(SGCE):c.998T>C (p.Leu333Pro)	CASD1, SGCE (L242P +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2895769	NM_003919.3(SGCE):c.1217A>G (p.Tyr406Cys)	CASD1, SGCE (Y365C +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2894585	NM_003919.3(SGCE):c.232+18A>G	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2875763	NM_003919.3(SGCE):c.1156A>G (p.Thr386Ala)	CASD1, SGCE (T295A +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2866470	NM_003919.3(SGCE):c.172T>A (p.Phe58Ile)	CASD1, SGCE (F29I +2 more)	Single nucleotide variant (missense variant +2 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2858466	NM_003919.3(SGCE):c.825+12T>G	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2856411	NM_003919.3(SGCE):c.513A>G (p.Val171=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2853095	NM_003919.3(SGCE):c.324A>G (p.Pro108=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2852634	NM_003919.3(SGCE):c.757G>A (p.Glu253Lys)	CASD1, SGCE (E212K +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2852124	NM_003919.3(SGCE):c.896dup (p.Glu300fs)	CASD1, SGCE (E259fs +4 more)	Duplication (frameshift variant)	Myoclonic dystonia 11	GPathogenic
Select item 2850012	NM_003919.3(SGCE):c.1245A>G (p.Gln415=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2848914	NM_003919.3(SGCE):c.1196C>G (p.Pro399Arg)	CASD1, SGCE (P308R +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2846764	NM_003919.3(SGCE):c.61G>A (p.Gly21Arg)	SGCE (G21R)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2846085	NM_003919.3(SGCE):c.235G>T (p.Glu79Ter)	CASD1, SGCE (E79* +3 more)	Single nucleotide variant (nonsense +1 more)	Myoclonic dystonia 11	GPathogenic
Select item 2839810	NM_003919.3(SGCE):c.852C>G (p.Thr284=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2837946	NM_003919.3(SGCE):c.722A>G (p.Asn241Ser)	CASD1, SGCE (N150S +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2837882	NM_003919.3(SGCE):c.139G>T (p.Asp47Tyr)	CASD1, SGCE (D18Y +2 more)	Single nucleotide variant (missense variant +2 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2833972	NM_003919.3(SGCE):c.4C>T (p.Gln2Ter)	SGCE (Q2*)	Single nucleotide variant (nonsense +1 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2830926	NM_003919.3(SGCE):c.232+1G>C	CASD1, SGCE	Single nucleotide variant (intron variant +1 more)	Myoclonic dystonia 11	GPathogenic
Select item 2828645	NM_003919.3(SGCE):c.110-1G>T	CASD1, SGCE	Single nucleotide variant (intron variant +1 more)	Myoclonic dystonia 11	GLikely pathogenic
Select item 2818413	NM_003919.3(SGCE):c.172T>C (p.Phe58Leu)	CASD1, SGCE (F58L +2 more)	Single nucleotide variant (missense variant +2 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2817377	NM_003919.3(SGCE):c.257C>G (p.Thr86Arg)	CASD1, SGCE (T122R +3 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2814973	NM_003919.3(SGCE):c.1064+19G>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2814584	NM_003919.3(SGCE):c.1253+14T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2809388	NM_003919.3(SGCE):c.285A>G (p.Pro95=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2804281	NM_003919.3(SGCE):c.463+13A>T	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2797933	NM_003919.3(SGCE):c.693G>C (p.Pro231=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2793572	NM_003919.3(SGCE):c.301C>A (p.Leu101Ile)	CASD1, SGCE (L72I +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2792302	NM_003919.3(SGCE):c.825+17T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2790679	NM_003919.3(SGCE):c.1072C>G (p.Leu358Val)	CASD1, SGCE (L258V +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2778801	NM_003919.3(SGCE):c.662+19C>T	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2764352	NM_003919.3(SGCE):c.304C>A (p.Arg102=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2750288	NM_003919.3(SGCE):c.464-20C>T	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2749278	NM_003919.3(SGCE):c.770C>T (p.Thr257Ile)	CASD1, SGCE (T228I +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2748543	NM_003919.3(SGCE):c.89C>G (p.Thr30Ser)	SGCE (T30S)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2748117	NM_003919.3(SGCE):c.390+2T>C	CASD1, SGCE	Single nucleotide variant (splice donor variant)	Myoclonic dystonia 11	GLikely pathogenic
Select item 2740254	NM_003919.3(SGCE):c.1157C>T (p.Thr386Met)	CASD1, SGCE (T422M +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2739550	NM_003919.3(SGCE):c.1234C>T (p.Pro412Ser)	CASD1, SGCE (P412S +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2738568	NM_003919.3(SGCE):c.1295C>T (p.Thr432Ile)	CASD1, SGCE (T332I +10 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2734190	NM_003919.3(SGCE):c.822A>T (p.Ser274=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2731847	NM_003919.3(SGCE):c.868C>G (p.Arg290Gly)	CASD1, SGCE (R199G +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2731619	NM_003919.3(SGCE):c.1038-12T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2728527	NM_003919.3(SGCE):c.390+10A>G	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2727149	NM_003919.3(SGCE):c.110-15C>T	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2724435	NM_003919.3(SGCE):c.464-14T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2722595	NM_003919.3(SGCE):c.390+4A>G	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2722148	NM_003919.3(SGCE):c.1265A>C (p.His422Pro)	CASD1, SGCE (H331P +10 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2718220	NM_003919.3(SGCE):c.410G>C (p.Arg137Pro)	CASD1, SGCE (R173P +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2717705	NM_003919.3(SGCE):c.825+12T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2716003	NM_003919.3(SGCE):c.1107G>A (p.Lys369=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2714114	NM_003919.3(SGCE):c.353dup (p.Thr119fs)	CASD1, SGCE (T155fs +4 more)	Duplication (frameshift variant)	Myoclonic dystonia 11	GPathogenic
Select item 2711749	NM_003919.3(SGCE):c.68G>T (p.Arg23Leu)	SGCE (R23L)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2710355	NM_003919.3(SGCE):c.1042_1043del (p.Lys348fs)	CASD1, SGCE (K319fs +4 more)	Deletion (frameshift variant +1 more)	Myoclonic dystonia 11	GPathogenic
Select item 2710286	NM_003919.3(SGCE):c.742dup (p.Cys248fs)	CASD1, SGCE (C157fs +4 more)	Duplication (frameshift variant)	Myoclonic dystonia 11	GPathogenic
Select item 2708363	NM_003919.3(SGCE):c.463+20G>T	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2704735	NM_003919.3(SGCE):c.828T>G (p.Val276=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2702532	NM_003919.3(SGCE):c.252_253del (p.Ile85fs)	CASD1, SGCE (I44fs +3 more)	Deletion (frameshift variant +1 more)	Myoclonic dystonia 11	GPathogenic
Select item 2702468	NM_003919.3(SGCE):c.306A>G (p.Arg102=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2698248	NM_003919.3(SGCE):c.837A>T (p.Thr279=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2693124	NM_003919.3(SGCE):c.133C>T (p.His45Tyr)	CASD1, SGCE (H81Y +2 more)	Single nucleotide variant (missense variant +2 more)	Myoclonic dystonia 11	GUncertain significance
Select item 2692743	NM_003919.3(SGCE):c.749A>G (p.Gln250Arg)	CASD1, SGCE (Q209R +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2682219	NM_003919.3(SGCE):c.639dup (p.Pro214fs)	CASD1, SGCE (P123fs +4 more)	Duplication (frameshift variant)	Myoclonic dystonia 11	GPathogenic
Select item 2657685	NM_003919.3(SGCE):c.109+11337G>A	SGCE	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2657684	NM_003919.3(SGCE):c.110-9580T>C	SGCE (I46T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2657683	NM_003919.3(SGCE):c.1206C>T (p.His402=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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