ClinVar for MedGen (Select 462333) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18068331.	NM_015972.4(POLR1D):c.60dup (p.Gly21fs) GRCh37: Chr13:28197043-28197044 GRCh38: Chr13:27622906-27622907	POLR1D	G21fs	Treacher Collins syndrome 2	Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17054172.	NM_015972.4(POLR1D):c.89_117del (p.Val30fs) GRCh37: Chr13:28197074-28197102 GRCh38: Chr13:27622937-27622965	POLR1D	V30fs	Treacher Collins syndrome 2	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16978553.	NM_015972.4(POLR1D):c.261del (p.Gly88fs) GRCh37: Chr13:28197246 GRCh38: Chr13:27623109	POLR1D	G88fs	Treacher Collins syndrome 2	Pathogenic	no assertion criteria provided
Select item 12746744.	NM_152705.3(POLR1D):c.219G>C (p.Ala73=) GRCh37: Chr13:28239940 GRCh38: Chr13:27665803	POLR1D		not provided, Treacher Collins syndrome 2	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11782195.	NM_152705.3(POLR1D):c.249G>A (p.Pro83=) GRCh37: Chr13:28239970 GRCh38: Chr13:27665833	POLR1D		not provided, Treacher Collins syndrome 2	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10327146.	NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala) GRCh37: Chr13:28197199 GRCh38: Chr13:27623062	POLR1D	T72A	Treacher Collins syndrome 2	Uncertain significance (Feb 22, 2018)	criteria provided, single submitter
Select item 1564647.	NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) GRCh37: Chr13:28197148 GRCh38: Chr13:27623011	POLR1D	L55V	Treacher Collins syndrome 2	Pathogenic (Sep 1, 2014)	no assertion criteria provided
Select item 310548.	NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs) GRCh37: Chr13:28197072-28197073 GRCh38: Chr13:27622935-27622936	POLR1D	Q31fs	Treacher Collins syndrome 2	Pathogenic (Jan 1, 2011)	no assertion criteria provided
Select item 310539.	NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs) GRCh37: Chr13:28197246-28197247 GRCh38: Chr13:27623109-27623110	POLR1D	T89fs	Treacher Collins syndrome 2	Pathogenic (Jan 1, 2011)	no assertion criteria provided
Select item 3105210.	NM_015972.4(POLR1D):c.326_327del (p.His109fs) GRCh37: Chr13:28197311-28197312 GRCh38: Chr13:27623174-27623175	POLR1D	H109fs	Treacher Collins syndrome 2	Pathogenic (Jan 1, 2011)	no assertion criteria provided
Select item 3105111.	NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg) GRCh37: Chr13:28197137 GRCh38: Chr13:27623000	POLR1D	L51R	Treacher Collins syndrome 2	Pathogenic (Jan 1, 2011)	no assertion criteria provided
Select item 3105012.	NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys) GRCh37: Chr13:28197124 GRCh38: Chr13:27622987	POLR1D	E47K	not provided	Likely pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 3104913.	NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter) GRCh37: Chr13:28197244 GRCh38: Chr13:27623107	POLR1D	R87*	not provided	Likely pathogenic (Dec 28, 2022)	criteria provided, single submitter