ClinVar for MedGen (Select 1712280) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444163	NM_019014.6(POLR1B):c.1496C>T (p.Pro499Leu)	POLR1B (P288L +4 more)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 4	GUncertain significance
Select item 2431488	NM_019014.6(POLR1B):c.56T>C (p.Leu19Ser)	POLR1B (L19S +1 more)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 4	GUncertain significance
Select item 1806005	NM_019014.6(POLR1B):c.1231A>G (p.Met411Val)	POLR1B (M200V +4 more)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 4	GUncertain significance
Select item 1705674	NM_019014.6(POLR1B):c.2055C>A (p.Asn685Lys)	POLR1B (N474K +6 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 4	GUncertain significance
Select item 932313	NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser)	POLR1B (R1003S +6 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 4	GPathogenic
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 932311	NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg)	POLR1B (S682R +6 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 4	GPathogenic

ClinVar