"GeneDx"[submitter] AND "LOC127898564"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1289666	NC_000003.12:g.50350952C>A	CYB561D2, LOC127898564 +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1231684	NC_000003.12:g.50351176C>A	CYB561D2, LOC127898564 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 461320	NM_006030.4(CACNA2D2):c.3370C>T (p.Leu1124Phe)	CACNA2D2, LOC127898564 (L1124F +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 416537	NM_006030.4(CACNA2D2):c.3349G>A (p.Val1117Ile)	CACNA2D2, LOC127898564 (V1124I +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 585338	NM_006030.4(CACNA2D2):c.3291+10G>C	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1304687	NM_006030.4(CACNA2D2):c.3263C>T (p.Pro1088Leu)	CACNA2D2, CYB561D2 +1 more (P1021L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426206	NM_006030.4(CACNA2D2):c.3203C>T (p.Thr1068Met)	CACNA2D2, LOC127898564 (T1068M +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 530409	NM_006030.4(CACNA2D2):c.3099G>A (p.Arg1033=)	LOC127898564, CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1022552	NM_006030.4(CACNA2D2):c.2507G>A (p.Gly836Asp)	CACNA2D2, LOC101928965 +1 more (G767D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance