"GeneDx"[submitter] AND "LOC101928786"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 59153	GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	See cases	GPathogenic
Select item 59155	GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1	LOC130003141, LOC130003142 +33 more	Copy number loss	See cases	GPathogenic
Select item 1287526	NM_000718.4(CACNA1B):c.3287-151C>T	CACNA1B, LOC101928786	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1221825	NM_000718.4(CACNA1B):c.3287-43A>G	CACNA1B, LOC101928786	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 3342955	NM_000718.4(CACNA1B):c.3292A>C (p.Asn1098His)	LOC101928786, CACNA1B (N1098H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1302824	NM_000718.4(CACNA1B):c.3413+87dup	CACNA1B, LOC101928786	Duplication (intron variant)	not provided	GBenign
Select item 1317019	NM_000718.4(CACNA1B):c.3413+328C>T	CACNA1B, LOC101928786	Single nucleotide variant (intron variant)	not provided	GLikely benign