"Revvity Omics, Revvity"[submitter] AND "CASD1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 653647	NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg)	CASD1, SGCE (T357R +9 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 464151	NM_003919.3(SGCE):c.1065-3T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	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 464149	NM_003919.3(SGCE):c.1036G>A (p.Val346Met)	CASD1, SGCE (V346M +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1441609	NM_003919.3(SGCE):c.1033G>A (p.Gly345Ser)	CASD1, SGCE (G254S +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 360988	NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln)	CASD1, SGCE (R342Q +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GConflicting classifications of pathogenicity
Select item 2435906	NM_003919.3(SGCE):c.1013T>C (p.Ile338Thr)	CASD1, SGCE (I247T +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2415072	NM_003919.3(SGCE):c.1012A>G (p.Ile338Val)	CASD1, SGCE (I247V +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2435905	NM_003919.3(SGCE):c.934G>A (p.Asp312Asn)	CASD1, SGCE (D221N +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2435907	NM_003919.3(SGCE):c.907C>T (p.Pro303Ser)	CASD1, SGCE (P212S +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 532784	NM_003919.3(SGCE):c.905A>T (p.Lys302Ile)	CASD1, SGCE (K302I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 655430	NM_003919.3(SGCE):c.892G>A (p.Gly298Ser)	CASD1, SGCE (G207S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 661242	NM_003919.3(SGCE):c.799T>A (p.Tyr267Asn)	CASD1, SGCE (Y176N +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
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 +3 more	GConflicting classifications of pathogenicity
Select item 571247	NM_003919.3(SGCE):c.787C>T (p.Arg263Cys)	CASD1, SGCE (R263C +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 360991	NM_003919.3(SGCE):c.712G>C (p.Glu238Gln)	CASD1, SGCE (E238Q +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 167680	NM_003919.3(SGCE):c.617A>G (p.Asp206Gly)	CASD1, SGCE (D206G +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2435908	NM_003919.3(SGCE):c.521T>C (p.Met174Thr)	CASD1, SGCE (M133T +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 2145027	NM_003919.3(SGCE):c.492C>A (p.Phe164Leu)	CASD1, SGCE (F123L +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 464156	NM_003919.3(SGCE):c.470C>T (p.Pro157Leu)	CASD1, SGCE (P157L +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GConflicting classifications of pathogenicity
Select item 287220	NM_003919.3(SGCE):c.436T>A (p.Leu146Met)	CASD1, SGCE (L146M +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +1 more	GConflicting classifications of pathogenicity
Select item 1099635	NM_003919.3(SGCE):c.410G>A (p.Arg137His)	CASD1, SGCE (R108H +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GConflicting classifications of pathogenicity
Select item 374642	NM_003919.3(SGCE):c.391A>G (p.Ile131Val)	CASD1, SGCE (I131V +4 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11 +3 more	GConflicting classifications of pathogenicity
Select item 1256592	NM_003919.3(SGCE):c.335G>A (p.Gly112Glu)	CASD1, SGCE (G112E +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 946290	NM_003919.3(SGCE):c.235G>A (p.Glu79Lys)	CASD1, SGCE (E38K +3 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11 +1 more	GUncertain significance
Select item 532789	NM_003919.3(SGCE):c.232+4T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11	GUncertain significance
Select item 665212	NM_003919.3(SGCE):c.143G>A (p.Arg48Gln)	CASD1, SGCE (R84Q +2 more)	Single nucleotide variant (missense variant +2 more)	Myoclonic dystonia 11	GUncertain significance
Select item 1110477	NM_003919.3(SGCE):c.139G>A (p.Asp47Asn)	CASD1, SGCE (D18N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 33