"GeneDx"[submitter] AND "LOC130058245"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 516720	NM_001199107.2(TBC1D24):c.-137GAG[1]	LOC130058245, TBC1D24	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 884387	NM_001199107.2(TBC1D24):c.-135G>A	LOC130058245, TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 508449	NM_001199107.2(TBC1D24):c.-134G>C	LOC130058245, TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383682	NM_001199107.2(TBC1D24):c.-121G>A	LOC130058245, TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 508475	NM_001199107.2(TBC1D24):c.-119G>C	LOC130058245, TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 516721	NM_001199107.2(TBC1D24):c.-116+3G>T	LOC130058245, TBC1D24	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 387229	NM_001199107.2(TBC1D24):c.-116+13G>C	LOC130058245, TBC1D24	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 668520	NM_001199107.2(TBC1D24):c.-116+18G>T	LOC130058245, TBC1D24	Single nucleotide variant (intron variant)	not provided	GLikely benign