"PreventionGenetics, part of Exact Sciences"[submitter] AND "POLR1B"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031450	NM_001282772.2(POLR1B):c.36G>A (p.Arg12=)	LOC129934585, POLR1B	Single nucleotide variant (synonymous variant)	POLR1B-related disorder	GLikely benign
Select item 3052254	NM_019014.6(POLR1B):c.1636C>T (p.Pro546Ser)	POLR1B (P335S +4 more)	Single nucleotide variant (missense variant +1 more)	POLR1B-related disorder	GLikely benign
Select item 2651280	NM_019014.6(POLR1B):c.2600T>C (p.Val867Ala)	POLR1B (V656A +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 932312	NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)	POLR1B (R1003C +6 more)	Single nucleotide variant (missense variant)	POLR1B-related disorder	GPathogenic
Select item 2630120	NM_019014.6(POLR1B):c.3052C>T (p.Arg1018Ter)	POLR1B (R1018* +6 more)	Single nucleotide variant (nonsense)	POLR1B-related disorder	GUncertain significance
Select item 3048973	NM_019014.6(POLR1B):c.3191G>A (p.Arg1064Gln)	POLR1B (R1008Q +6 more)	Single nucleotide variant (missense variant)	POLR1B-related disorder	GLikely benign
Select item 2342370	NM_019014.6(POLR1B):c.3398A>G (p.Asp1133Gly)	POLR1B (D1077G +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

ClinVar