"SGCE-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 448355	NM_003919.3(SGCE):c.1254-9_1254-7del	CASD1, SGCE	Microsatellite (intron variant)	SGCE-related condition +3 more	GBenign
Select item 532797	NM_003919.3(SGCE):c.1254-10T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	SGCE-related condition +2 more	GBenign
Select item 1698413	NM_003919.3(SGCE):c.1253+799G>A	CASD1, SGCE (G428R)	Single nucleotide variant (intron variant +1 more)	SGCE-related condition +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 condition	GBenign
Select item 3059877	NM_003919.3(SGCE):c.1253+766_1253+767del	CASD1, SGCE	Deletion (intron variant)	SGCE-related condition	GLikely benign
Select item 287220	NM_003919.3(SGCE):c.436T>A (p.Leu146Met)	CASD1, SGCE (L146M +4 more)	Single nucleotide variant (missense variant)	not provided +2 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)	SGCE-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2628510	NM_003919.3(SGCE):c.363A>T (p.Glu121Asp)	CASD1, SGCE (E121D +4 more)	Single nucleotide variant (missense variant)	SGCE-related condition	GUncertain significance
Select item 749234	NM_003919.3(SGCE):c.110-9T>C	CASD1, SGCE	Single nucleotide variant (intron variant)	Myoclonic dystonia 11 +1 more	GLikely benign
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