"Revvity Omics, Revvity"[submitter] AND "POLR3A"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301020	NM_007055.4(POLR3A):c.*813A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1004083	NM_007055.4(POLR3A):c.3499G>C (p.Val1167Leu)	POLR3A (V1167L)	Single nucleotide variant (missense variant)	POLR3A-related neurological disorders +1 more	GUncertain significance
Select item 549572	NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)	POLR3A (K1131R)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 617893	NM_007055.4(POLR3A):c.3337-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1323486	NM_007055.4(POLR3A):c.2988+1G>A	POLR3A	Single nucleotide variant (splice donor variant)	Leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2435160	NM_007055.4(POLR3A):c.2901+274T>C	POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 235466	NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)	POLR3A (R873*)	Single nucleotide variant (nonsense)	Leukodystrophy +2 more	GPathogenic
Select item 2435159	NM_007055.4(POLR3A):c.2360-6C>T	POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2435161	NM_007055.4(POLR3A):c.2055G>C (p.Arg685Ser)	POLR3A (R685S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445922	NM_007055.4(POLR3A):c.1909+22G>A	POLR3A	Single nucleotide variant (intron variant)	POLR3A-related neurological disorders +7 more	GPathogenic/Likely pathogenic
Select item 449556	NM_007055.4(POLR3A):c.1771-7C>G	POLR3A	Single nucleotide variant (intron variant)	POLR3A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1324950	NM_007055.4(POLR3A):c.1573-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1323485	NM_007055.4(POLR3A):c.1229dup (p.Asn410fs)	POLR3A (N410fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2435162	NM_007055.4(POLR3A):c.1109C>T (p.Ser370Leu)	POLR3A (S370L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435163	NM_007055.4(POLR3A):c.645G>A (p.Gln215=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance