"GeneDx"[submitter] AND "SGCE"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373239	NM_003919.3(SGCE):c.1310C>T (p.Pro437Leu)	CASD1, SGCE (P437L +11 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +2 more	GUncertain significance
Select item 1295522	NM_003919.3(SGCE):c.1297+811T>A	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 448355	NM_003919.3(SGCE):c.1254-9_1254-7del	CASD1, SGCE	Microsatellite (intron variant)	Myoclonic dystonia 11 +2 more	GBenign/Likely benign
Select item 532797	NM_003919.3(SGCE):c.1254-10T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11 +1 more	GBenign
Select item 1708630	NM_003919.3(SGCE):c.1254-33del	SGCE, CASD1	Deletion (intron variant)	not provided	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 265518	NM_003919.3(SGCE):c.1210_1213del (p.Asp404fs)	CASD1, SGCE (D395fs +9 more)	Deletion (frameshift variant)	Myoclonic dystonia 11 +1 more	GPathogenic
Select item 696425	NM_003919.3(SGCE):c.1165G>C (p.Val389Leu)	CASD1, SGCE (V298L +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 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 1181799	NM_003919.3(SGCE):c.1065-42T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201283	NM_003919.3(SGCE):c.1064+3_1064+6del	CASD1, SGCE	Deletion (intron variant +1 more)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 2433343	NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)	CASD1, SGCE (T262fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1293136	NM_003919.3(SGCE):c.1038-236C>T	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235852	NM_003919.3(SGCE):c.1038-245C>T	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189633	NM_003919.3(SGCE):c.1038-257T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 951224	NM_003919.3(SGCE):c.1027C>T (p.Arg343Trp)	CASD1, SGCE (R343W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313879	NM_003919.3(SGCE):c.920C>A (p.Ser307Tyr)	CASD1, SGCE (S216Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722976	NM_003919.3(SGCE):c.878G>C (p.Gly293Ala)	CASD1, SGCE (G202A +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 1691769	NM_003919.3(SGCE):c.868C>A (p.Arg290Ser)	CASD1, SGCE (R199S +4 more)	Single nucleotide variant	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 1213596	NM_003919.3(SGCE):c.850del (p.Thr284fs)	CASD1, SGCE (T193fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1203940	NM_003919.3(SGCE):c.850A>G (p.Thr284Ala)	CASD1, SGCE (T193A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5772	NM_003919.3(SGCE):c.835_839del (p.Thr279fs)	CASD1, SGCE (T238fs +4 more)	Deletion (frameshift variant)	Myoclonic dystonia 11 +1 more	GPathogenic/Likely pathogenic
Select item 1201762	NM_003919.3(SGCE):c.826-82del	CASD1, SGCE	Deletion (intron variant)	not provided	GLikely benign
Select item 464161	NM_003919.3(SGCE):c.825+1_825+2del	CASD1, SGCE	Deletion (splice donor variant)	not provided +1 more	GPathogenic
Select item 1678758	NM_003919.3(SGCE):c.825+1G>A	CASD1, SGCE	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 397531	NM_003919.3(SGCE):c.783dup (p.Phe262fs)	CASD1, SGCE (F171fs +4 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1315294	NM_003919.3(SGCE):c.772T>A (p.Cys258Ser)	CASD1, SGCE (C167S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198162	NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer)	CASD1, SGCE	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 281115	NM_003919.3(SGCE):c.769A>C (p.Thr257Pro)	CASD1, SGCE (T257P +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 418867	NM_003919.3(SGCE):c.766dup (p.Ile256fs)	CASD1, SGCE (I165fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1321115	NM_003919.3(SGCE):c.751G>T (p.Glu251Ter)	CASD1, SGCE (E160* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 94384	NM_003919.3(SGCE):c.709C>T (p.Arg237Ter)	CASD1, SGCE (R237* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 419890	NM_003919.3(SGCE):c.663-9dup	CASD1, SGCE	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1201659	NM_003919.3(SGCE):c.663-315_663-312del	CASD1, SGCE	Deletion (intron variant)	not provided	GLikely benign
Select item 1276688	NM_003919.3(SGCE):c.663-320T>A	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295524	NM_003919.3(SGCE):c.662+99G>T	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 448358	NM_003919.3(SGCE):c.619del (p.Arg207fs)	CASD1, SGCE (R116fs +4 more)	Deletion (frameshift variant)	Myoclonic dystonia 11 +1 more	GPathogenic
Select item 1311106	NM_003919.3(SGCE):c.597A>G (p.Ile199Met)	SGCE, CASD1 (I108M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420156	NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)	CASD1, SGCE (L184P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 817771	NM_003919.3(SGCE):c.546del (p.Gly185fs)	CASD1, SGCE (G221fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1310964	NM_003919.3(SGCE):c.500A>C (p.Lys167Thr)	CASD1, SGCE (K126T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242305	NM_003919.3(SGCE):c.463+266T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310259	NM_003919.3(SGCE):c.461A>G (p.Glu154Gly)	CASD1, SGCE (E113G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 660209	NM_003919.3(SGCE):c.446A>C (p.Asn149Thr)	CASD1, SGCE (N185T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1018423	NM_003919.3(SGCE):c.440T>G (p.Ile147Arg)	CASD1, SGCE (I106R +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +2 more	GUncertain significance
Select item 432436	NM_003919.3(SGCE):c.392T>C (p.Ile131Thr)	CASD1, SGCE (I131T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342071	NM_003919.3(SGCE):c.391-1G>A	CASD1, SGCE	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 197225	NM_003919.3(SGCE):c.391-3T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11 +2 more	GBenign/Likely benign
Select item 259198	NM_003919.3(SGCE):c.391-43A>C	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1178946	NM_003919.3(SGCE):c.390+243C>T	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241024	NM_003919.3(SGCE):c.390+39GT[14]	CASD1, SGCE	Microsatellite (intron variant)	not provided	GBenign
Select item 1177944	NM_003919.3(SGCE):c.390+39GT[16]	CASD1, SGCE	Microsatellite (intron variant)	not provided	GBenign
Select item 259197	NM_003919.3(SGCE):c.369G>C (p.Val123=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11 +2 more	GBenign/Likely benign
Select item 373313	NM_003919.3(SGCE):c.348del (p.Ser117fs)	CASD1, SGCE (S76fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2444585	NM_003919.3(SGCE):c.334G>A (p.Gly112Arg)	CASD1, SGCE (G112R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312193	NM_003919.3(SGCE):c.322C>A (p.Pro108Thr)	CASD1, SGCE (P108T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5769	NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)	CASD1, SGCE (R102* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 280479	NM_003919.3(SGCE):c.299G>A (p.Trp100Ter)	SGCE, CASD1 (W100* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 5768	NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)	CASD1, SGCE (R97* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1804322	NM_003919.3(SGCE):c.274A>G (p.Met92Val)	CASD1, SGCE (M128V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1293978	NM_003919.3(SGCE):c.233-325T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179988	NM_003919.3(SGCE):c.232+291T>G	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231275	NM_003919.3(SGCE):c.232+134G>A	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198259	NM_003919.3(SGCE):c.232+3A>G	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 372800	NM_003919.3(SGCE):c.232+1G>T	CASD1, SGCE	Single nucleotide variant (intron variant +1 more)	Myoclonic dystonia 11 +1 more	GPathogenic/Likely pathogenic
Select item 1801894	NM_003919.3(SGCE):c.163G>T (p.Gly55Cys)	CASD1, SGCE (G26C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1695560	NM_003919.3(SGCE):c.110-9528C>A	SGCE (S63R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1295523	NM_003919.3(SGCE):c.109+206_109+208dup	SGCE	Duplication (intron variant)	not provided	GBenign
Select item 1207824	NM_003919.3(SGCE):c.109+110C>G	SGCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1069379	NM_003919.3(SGCE):c.109+1G>A	SGCE	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 573826	NM_003919.3(SGCE):c.109G>A (p.Val37Met)	SGCE (V37M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 451828	NM_003919.3(SGCE):c.45G>A (p.Trp15Ter)	SGCE (W15*)	Single nucleotide variant (nonsense +1 more)	Myoclonic dystonia 11 +1 more	GConflicting classifications of pathogenicity
Select item 586563	NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)	SGCE (W7*)	Single nucleotide variant (nonsense +1 more)	Myoclonic dystonia 11 +1 more	GConflicting classifications of pathogenicity
Select item 1295653	NC_000007.14:g.94656254A>C	SGCE	Single nucleotide variant	not provided	GBenign
Select item 1227017	NC_000007.14:g.94656259del	SGCE	Deletion	not provided	GBenign
Select item 1196294	NC_000007.14:g.94656435G>A	PEG10, SGCE	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

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Items: 79