"GeneDx"[submitter] AND "POLG-DT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 1198801	NM_002693.3(POLG):c.-160+51G>A	POLG, POLG-DT +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196941	NM_002693.3(POLG):c.-160+45C>T	POLG, POLG-DT +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 206625	NM_002693.3(POLG):c.-170T>A	POLG, POLG-DT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 206585	NM_002693.3(POLG):c.-172C>A	POLG, POLG-DT +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 206495	NM_002693.3(POLG):c.-186_-185delinsCC	POLG, POLG-DT +1 more	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 317339	NM_002693.3(POLG):c.-200del	POLG, POLG-DT +1 more	Deletion (5 prime UTR variant)	POLG-Related Spectrum Disorders +1 more	GBenign/Likely benign
Select item 695736	NC_000015.10:g.89335160T>C	POLG, POLG-DT	Single nucleotide variant	Progressive sclerosing poliodystrophy +1 more	GBenign

ClinVar