"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SGCE"[gene - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2657683	NM_003919.3(SGCE):c.1206C>T (p.His402=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1879693	NM_003919.3(SGCE):c.1045A>G (p.Arg349Gly)	CASD1, SGCE (R258G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571284	NM_003919.3(SGCE):c.1010A>C (p.Tyr337Ser)	CASD1, SGCE (Y246S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571285	NM_003919.3(SGCE):c.934_935del (p.Asp312fs)	CASD1, SGCE (D221fs +4 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2579022	NM_003919.3(SGCE):c.847del (p.Ser283fs)	CASD1, SGCE (S192fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 624289	NM_003919.3(SGCE):c.825+3_825+6del	CASD1, SGCE	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1711658	NM_003919.3(SGCE):c.811_812del (p.Cys271fs)	CASD1, SGCE (C180fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 807490	NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)	CASD1, SGCE (C271Y +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 624290	NM_003919.3(SGCE):c.810G>A (p.Trp270Ter)	CASD1, SGCE (W270* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 810135	NM_003919.3(SGCE):c.800_804del (p.Phe266_Tyr267insTer)	CASD1, SGCE	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 847690	NM_003919.3(SGCE):c.788G>A (p.Arg263His)	CASD1, SGCE (R222H +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +2 more	GConflicting classifications of pathogenicity
Select item 2571286	NM_003919.3(SGCE):c.783del (p.Lys261fs)	CASD1, SGCE (K170fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 810136	NM_003919.3(SGCE):c.764T>C (p.Val255Ala)	CASD1, SGCE (V214A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 493458	NM_003919.3(SGCE):c.715_719dup (p.Asn241fs)	CASD1, SGCE (N200fs +4 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 444724	NM_003919.3(SGCE):c.707T>G (p.Leu236Ter)	CASD1, SGCE (L236* +4 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 374784	NM_003919.3(SGCE):c.667del (p.Tyr223fs)	CASD1, SGCE (Y132fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 916287	NM_003919.3(SGCE):c.663-1G>A	CASD1, SGCE	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 488594	NM_003919.3(SGCE):c.549_552del (p.Phe183fs)	CASD1, SGCE (F183fs +4 more)	Deletion (frameshift variant)	Myoclonic dystonia 11 +1 more	GPathogenic/Likely pathogenic
Select item 360994	NM_003919.3(SGCE):c.510T>C (p.Asn170=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1695196	NM_003919.3(SGCE):c.463+698_463+699del	CASD1, SGCE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2579023	NM_003919.3(SGCE):c.463+695del	CASD1, SGCE	Deletion (intron variant)	not provided	GLikely benign
Select item 703274	NM_003919.3(SGCE):c.436T>C (p.Leu146=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11 +1 more	GLikely benign
Select item 2499049	NM_003919.3(SGCE):c.413C>T (p.Thr138Ile)	CASD1, SGCE (T109I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374642	NM_003919.3(SGCE):c.391A>G (p.Ile131Val)	CASD1, SGCE (I131V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 805443	NM_003919.3(SGCE):c.391-79G>T	CASD1, SGCE	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2499050	NM_003919.3(SGCE):c.374A>G (p.Lys125Arg)	CASD1, SGCE (K125R +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 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 624291	NM_003919.3(SGCE):c.277G>T (p.Gly93Cys)	CASD1, SGCE (G93C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624292	NM_003919.3(SGCE):c.233-2del	CASD1, SGCE	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 425421	NM_003919.3(SGCE):c.193G>T (p.Glu65Ter)	CASD1, SGCE (E65* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 624293	NM_003919.3(SGCE):c.148G>A (p.Val50Ile)	CASD1, SGCE (V50I +2 more)	Single nucleotide variant (missense variant +2 more)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 2657684	NM_003919.3(SGCE):c.110-9580T>C	SGCE (I46T)	Single nucleotide variant (missense variant +2 more)	SGCE-related condition +1 more	GBenign/Likely benign
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 1579586	NM_003919.3(SGCE):c.81C>T (p.Pro27=)	SGCE	Single nucleotide variant (synonymous variant +1 more)	Myoclonic dystonia 11 +1 more	GLikely benign
Select item 425523	GRCh37/hg19 7q21.3(chr7:94129826-94844077)x1	CASD1, PEG10 +2 more	Copy number loss	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42