8910[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 532801	NC_000007.14:g.(?_94395012)_(94656118_?)del	LOC129998824, LOC129998825 +5 more	Deletion	Myoclonic dystonia 11	GPathogenic
Select item 360985	NM_003919.3(SGCE):c.*172T>C	CASD1, SGCE	Single nucleotide variant (3 prime UTR variant)	Myoclonic dystonia 11	GUncertain significance
Select item 360986	NM_003919.3(SGCE):c.*101A>G	CASD1, SGCE	Single nucleotide variant (3 prime UTR variant)	Myoclonic dystonia 11	GBenign
Select item 373239	NM_003919.3(SGCE):c.1310C>T (p.Pro437Leu)	CASD1, SGCE (P437L +11 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 759449	NM_003919.3(SGCE):c.1298-10C>T	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2154627	NM_003919.3(SGCE):c.1298-14C>A	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1591244	NM_003919.3(SGCE):c.1298-18C>T	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 493457	NM_003919.3(SGCE):c.1297+886G>A	CASD1, SGCE (R427H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1295522	NM_003919.3(SGCE):c.1297+811T>A	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2195976	NM_003919.3(SGCE):c.1297+19A>G	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 1623340	NM_003919.3(SGCE):c.1297+18T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2183528	NM_003919.3(SGCE):c.1297+12G>T	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 1323588	NM_003919.3(SGCE):c.1296dup (p.Gly433fs)	CASD1, SGCE (G333fs +10 more)	Duplication (frameshift variant)	Myoclonic dystonia 11	GPathogenic
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 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 2443525	NM_003919.3(SGCE):c.1285C>T (p.Gln429Ter)	CASD1, SGCE (Q329* +10 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 581767	NM_003919.3(SGCE):c.1285C>G (p.Gln429Glu)	CASD1, SGCE (Q429E +10 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2303135	NM_003919.3(SGCE):c.1283A>G (p.Gln428Arg)	CASD1, SGCE (Q387R +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 849687	NM_003919.3(SGCE):c.1277T>C (p.Ile426Thr)	CASD1, SGCE (I417T +10 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 653442	NM_003919.3(SGCE):c.1275G>C (p.Gln425His)	CASD1, SGCE (Q387H +10 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2184031	NM_003919.3(SGCE):c.1271C>G (p.Thr424Ser)	CASD1, SGCE (T374S +10 more)	Single nucleotide variant (missense 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 448355	NM_003919.3(SGCE):c.1254-9_1254-7del	CASD1, SGCE	Microsatellite (intron variant)	Myoclonic dystonia 11 +3 more	GBenign
Select item 798474	NM_003919.3(SGCE):c.1254-10del	CASD1, SGCE	Deletion (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 532797	NM_003919.3(SGCE):c.1254-10T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11 +2 more	GBenign
Select item 1708630	NM_003919.3(SGCE):c.1254-33del	SGCE, CASD1	Deletion (intron variant)	not provided	GLikely benign
Select item 586562	NM_003919.3(SGCE):c.1253+814G>A	CASD1, SGCE (D433N)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11 +1 more	GBenign
Select item 586561	NM_003919.3(SGCE):c.1253+811_1253+812delinsCA	CASD1, SGCE (S432H)	Indel (missense variant +1 more)	not provided	GBenign
Select item 235287	NM_003919.3(SGCE):c.1253+812G>A	CASD1, SGCE (S432N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 487363	NM_003919.3(SGCE):c.1253+811A>C	CASD1, SGCE (S432R)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11	GBenign
Select item 1698413	NM_003919.3(SGCE):c.1253+799G>A	CASD1, SGCE (G428R)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11 +1 more	GConflicting classifications of pathogenicity
Select item 3042525	NM_003919.3(SGCE):c.1253+766_1253+767dup	CASD1, SGCE	Duplication (intron variant)	SGCE-related disorder	GBenign
Select item 3059877	NM_003919.3(SGCE):c.1253+766_1253+767del	CASD1, SGCE	Deletion (intron variant)	SGCE-related disorder	GLikely benign
Select item 1248436	NM_003919.3(SGCE):c.1253+272A>G	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195657	NM_003919.3(SGCE):c.1253+241A>G	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125072	NM_003919.3(SGCE):c.1253+16G>A	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 2040906	NM_003919.3(SGCE):c.1253+16G>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GLikely benign
Select item 1623515	NM_003919.3(SGCE):c.1253+15A>G	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 935585	NM_003919.3(SGCE):c.1253+2dup	CASD1, SGCE	Duplication (splice donor variant)	Myoclonic dystonia 11	GUncertain significance
Select item 464148	NC_000007.14:g.(?_94598775)_(94603452_?)del	SGCE, CASD1	Deletion	Myoclonic dystonia 11	GPathogenic
Select item 1086860	NM_003919.3(SGCE):c.1248G>C (p.Thr416=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 578755	NM_003919.3(SGCE):c.1247C>T (p.Thr416Met)	CASD1, SGCE (T416M +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +2 more	GUncertain significance
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 572333	NM_003919.3(SGCE):c.1238T>C (p.Leu413Ser)	CASD1, SGCE (L413S +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1567807	NM_003919.3(SGCE):c.1237T>C (p.Leu413=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
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 2187854	NM_003919.3(SGCE):c.1221T>C (p.Asp407=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 2178370	NM_003919.3(SGCE):c.1218T>C (p.Tyr406=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
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 648594	NM_003919.3(SGCE):c.1214A>G (p.Asn405Ser)	CASD1, SGCE (N314S +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 265518	NM_003919.3(SGCE):c.1210_1213del (p.Asp404fs)	CASD1, SGCE (D395fs +9 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2414229	NM_003919.3(SGCE):c.1208_1209del (p.Thr403fs)	CASD1, SGCE (T303fs +9 more)	Microsatellite (frameshift variant)	Myoclonic dystonia 11	GPathogenic
Select item 2657683	NM_003919.3(SGCE):c.1206C>T (p.His402=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123764	NM_003919.3(SGCE):c.1202T>C (p.Leu401Ser)	CASD1, SGCE (L301S +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1059320	NM_003919.3(SGCE):c.1198C>T (p.Pro400Ser)	CASD1, SGCE (P300S +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
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 532793	NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu)	CASD1, SGCE (P399L +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GConflicting classifications of pathogenicity
Select item 2045520	NM_003919.3(SGCE):c.1195C>T (p.Pro399Ser)	CASD1, SGCE (P349S +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1063416	NM_003919.3(SGCE):c.1195C>G (p.Pro399Ala)	CASD1, SGCE (P299A +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1022455	NM_003919.3(SGCE):c.1186G>A (p.Glu396Lys)	CASD1, SGCE (E296K +9 more)	Single nucleotide variant (missense variant)	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 582414	NM_003919.3(SGCE):c.1177G>A (p.Val393Met)	CASD1, SGCE (V393M +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1565217	NM_003919.3(SGCE):c.1176T>C (p.Pro392=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 696425	NM_003919.3(SGCE):c.1165G>C (p.Val389Leu)	CASD1, SGCE (V298L +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +1 more	GLikely benign
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 532796	NM_003919.3(SGCE):c.1158G>A (p.Thr386=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
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 653647	NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg)	CASD1, SGCE (T357R +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +2 more	GUncertain significance
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 2996368	NM_003919.3(SGCE):c.1155A>G (p.Ser385=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 1037970	NM_003919.3(SGCE):c.1153T>C (p.Ser385Pro)	CASD1, SGCE (S294P +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2136573	NM_003919.3(SGCE):c.1151del (p.Leu384fs)	CASD1, SGCE (L346fs +9 more)	Deletion (frameshift variant)	Myoclonic dystonia 11 +1 more	GPathogenic
Select item 1461636	NM_003919.3(SGCE):c.1151T>G (p.Leu384Arg)	CASD1, SGCE (L343R +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 290092	NM_003919.3(SGCE):c.1144T>C (p.Trp382Arg)	CASD1, SGCE (W382R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678627	NM_003919.3(SGCE):c.1141G>C (p.Ala381Pro)	CASD1, SGCE (A281P +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 660230	NM_003919.3(SGCE):c.1141G>A (p.Ala381Thr)	CASD1, SGCE (A340T +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1321250	NM_003919.3(SGCE):c.1139T>G (p.Ile380Arg)	CASD1, SGCE (I280R +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 847042	NM_003919.3(SGCE):c.1139T>C (p.Ile380Thr)	CASD1, SGCE (I289T +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1719265	NM_003919.3(SGCE):c.1135G>A (p.Glu379Lys)	CASD1, SGCE (E279K +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 287244	NM_003919.3(SGCE):c.1134A>C (p.Arg378Ser)	CASD1, SGCE (R378S +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 938661	NM_003919.3(SGCE):c.1129A>C (p.Asn377His)	CASD1, SGCE (N286H +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 745770	NM_003919.3(SGCE):c.1128G>A (p.Lys376=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 836885	NM_003919.3(SGCE):c.1122G>A (p.Met374Ile)	CASD1, SGCE (M274I +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1017485	NM_003919.3(SGCE):c.1121T>C (p.Met374Thr)	CASD1, SGCE (M274T +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 532795	NM_003919.3(SGCE):c.1115G>A (p.Arg372Gln)	CASD1, SGCE (R372Q +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 5776	NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter)	CASD1, SGCE (R372* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 864675	NM_003919.3(SGCE):c.1109A>G (p.Glu370Gly)	CASD1, SGCE (E279G +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
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 960826	NM_003919.3(SGCE):c.1106A>G (p.Lys369Arg)	CASD1, SGCE (K328R +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 1108241	NM_003919.3(SGCE):c.1104C>A (p.Thr368=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 1154589	NM_003919.3(SGCE):c.1101T>A (p.Ser367=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign
Select item 860502	NM_003919.3(SGCE):c.1091T>C (p.Ile364Thr)	CASD1, SGCE (I273T +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 1356690	NM_003919.3(SGCE):c.1078C>T (p.His360Tyr)	CASD1, SGCE (H319Y +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2119617	NM_003919.3(SGCE):c.1075G>C (p.Val359Leu)	CASD1, SGCE (V321L +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2045375	NM_003919.3(SGCE):c.1075G>A (p.Val359Ile)	CASD1, SGCE (V386I +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 700164	NM_003919.3(SGCE):c.1074G>A (p.Leu358=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11	GLikely benign

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