"Ambry Genetics"[submitter] AND "SGCE"[gene] - ClinVar

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Items: 27

	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 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 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 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 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 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)	Inborn genetic diseases +1 more	GUncertain significance
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 2544231	NM_003919.3(SGCE):c.947A>T (p.Asp316Val)	CASD1, SGCE (D316V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 448359	NM_003919.3(SGCE):c.826-2A>G	CASD1, SGCE	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1482015	NM_003919.3(SGCE):c.663C>G (p.Gly221=)	CASD1, SGCE	Single nucleotide variant (synonymous variant)	Myoclonic dystonia 11 +1 more	GConflicting classifications of pathogenicity
Select item 2485795	NM_003919.3(SGCE):c.589A>T (p.Asn197Tyr)	CASD1, SGCE (N156Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970245	NM_003919.3(SGCE):c.584G>A (p.Arg195His)	CASD1, SGCE (R154H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 360992	NM_003919.3(SGCE):c.556G>A (p.Ala186Thr)	CASD1, SGCE (A186T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2276046	NM_003919.3(SGCE):c.496A>G (p.Ile166Val)	CASD1, SGCE (I166V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1414820	NM_003919.3(SGCE):c.429G>T (p.Arg143Ser)	CASD1, SGCE (R102S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 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
Select item 2618119	NM_003919.3(SGCE):c.128A>G (p.Lys43Arg)	CASD1, SGCE (K79R +2 more)	Single nucleotide variant (missense variant +2 more)	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

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Items: 27