ClinVar for MedGen (Select 462333) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806833	NM_015972.4(POLR1D):c.60dup (p.Gly21fs)	POLR1D (G21fs)	Duplication (frameshift variant +1 more)	Treacher Collins syndrome 2	GLikely pathogenic
Select item 1705417	NM_015972.4(POLR1D):c.89_117del (p.Val30fs)	POLR1D (V30fs)	Deletion (frameshift variant +1 more)	Treacher Collins syndrome 2	GLikely pathogenic
Select item 1697855	NM_015972.4(POLR1D):c.261del (p.Gly88fs)	POLR1D (G88fs)	Deletion (frameshift variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 1274674	NM_152705.3(POLR1D):c.219G>C (p.Ala73=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1178219	NM_152705.3(POLR1D):c.249G>A (p.Pro83=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1032714	NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala)	POLR1D (T72A)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 2	GUncertain significance
Select item 156464	NM_015972.4(POLR1D):c.163C>G (p.Leu55Val)	POLR1D (L55V)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 31054	NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs)	POLR1D (Q31fs)	Duplication (frameshift variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 31053	NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs)	POLR1D (T89fs)	Duplication (frameshift variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 31052	NM_015972.4(POLR1D):c.326_327del (p.His109fs)	POLR1D (H109fs)	Deletion (frameshift variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 31051	NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg)	POLR1D (L51R)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 31050	NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys)	POLR1D (E47K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 31049	NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter)	POLR1D (R87*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic