"GeneDx"[submitter] AND "LOC108663985"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 146026	GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1	CACNA1A, IER2 +52 more	Copy number loss	See cases	GPathogenic
Select item 1711464	NM_001127222.2(CACNA1A):c.6937CAG[16] (p.Gln2325_Ala2326insGlnGlnGln)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 235603	NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1295862	NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del)	CACNA1A, LOC108663985 (Q2325del +1 more)	Microsatellite (3 prime UTR variant +1 more)	Episodic ataxia type 2 +4 more	GBenign
Select item 1249720	NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided +4 more	GBenign
Select item 982691	NM_001127222.2(CACNA1A):c.6937CAG[4] (p.Gln2317_Gln2325del)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 42 +1 more	GBenign/Likely benign
Select item 445458	NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 6 +5 more	GBenign/Likely benign