"Practice for Gait Abnormalities, David Pomarino, Competency Network T - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279961	NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	POLG, POLGARF (T914P)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +9 more	GPathogenic/Likely pathogenic
Select item 138747	NM_002693.3(POLG):c.2481-7C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 13513	NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	POLG, POLGARF (G737R)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 206516	NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)	POLG, POLGARF (N736S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +10 more	GConflicting classifications of pathogenicity
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Global developmental delay +14 more	GConflicting classifications of pathogenicity
Select item 65665	NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	POLG, POLGARF (G517V)	Single nucleotide variant (missense variant)	POLG-related disorder +11 more	GConflicting classifications of pathogenicity
Select item 13496	NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG, POLGARF (A467T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +12 more	GPathogenic
Select item 381521	NM_002693.3(POLG):c.926G>A (p.Arg309His)	POLG, POLGARF (R309H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 206583	NM_002693.3(POLG):c.830A>T (p.His277Leu)	POLG, POLGARF (H277L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +7 more	GConflicting classifications of pathogenicity
Select item 196354	NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	POLG, POLGARF (G268A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +11 more	GConflicting classifications of pathogenicity
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG, POLGARF (T251I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +15 more	GConflicting classifications of pathogenicity