C1834846[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG (Q1236H)	Single nucleotide variant (missense variant +1 more)	not provided +12 more	GBenign/Likely benign
Select item 448104	NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	POLG (A889T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 138750	NM_002693.3(POLG):c.2601T>C (p.Pro867=)	POLG	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG (G848S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +11 more	GPathogenic
Select item 13507	NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	POLG (W748S)	Single nucleotide variant (missense variant)	not specified +9 more	GPathogenic/Likely pathogenic
Select item 13496	NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG (A467T)	Single nucleotide variant (missense variant)	POLG-related disorder +10 more	GPathogenic
Select item 196354	NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	POLG (G268A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +10 more	GConflicting classifications of pathogenicity

ClinVar