"3billion"[submitter] AND "POLR3A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549559	NM_007055.4(POLR3A):c.3337-11T>C	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2444334	NM_007055.4(POLR3A):c.2210AGC[4] (p.Gln739_Pro740insGln)	POLR3A	Microsatellite (inframe_insertion)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1333236	NM_007055.4(POLR3A):c.1910-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely pathogenic
Select item 445922	NM_007055.4(POLR3A):c.1909+22G>A	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +7 more	GPathogenic/Likely pathogenic
Select item 976718	NM_007055.4(POLR3A):c.1771-6C>G	POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GPathogenic/Likely pathogenic
Select item 449556	NM_007055.4(POLR3A):c.1771-7C>G	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +4 more	GPathogenic/Likely pathogenic

ClinVar