ClinVar for MedGen (Select 342798) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24420061.	NM_001983.4(ERCC1):c.467G>A (p.Arg156Gln) GRCh37: Chr19:45922414 GRCh38: Chr19:45419156	ERCC1	R156Q	Cerebrooculofacioskeletal syndrome 4	Uncertain significance (May 28, 2021)	criteria provided, single submitter
Select item 16835822.	NM_001983.4(ERCC1):c.231del (p.Thr78fs) GRCh37: Chr19:45924526 GRCh38: Chr19:45421268	ERCC1	T78fs	Cerebrooculofacioskeletal syndrome 4	Likely pathogenic (Apr 14, 2021)	criteria provided, single submitter
Select item 13228283.	NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter) GRCh37: Chr19:45924636 GRCh38: Chr19:45421378	ERCC1	R41*	Cerebrooculofacioskeletal syndrome 4, not provided	Pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7086374.	NM_001983.4(ERCC1):c.191C>T (p.Ala64Val) GRCh37: Chr19:45924566 GRCh38: Chr19:45421308	ERCC1	A64V	not provided, Cerebrooculofacioskeletal syndrome 4	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 6385235.	NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro) GRCh37: Chr19:45916979 GRCh38: Chr19:45413721	ERCC1	S267P, S243P	not provided, Cerebrooculofacioskeletal syndrome 4	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5921476.	NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) GRCh37: Chr19:45916982 GRCh38: Chr19:45413724	ERCC1	A266T, A242T	not provided	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 3295347.	NM_001983.4(ERCC1):c.843+32G>A GRCh37: Chr19:45916903 GRCh38: Chr19:45413645	ERCC1	W292, W268	not provided, Cerebrooculofacioskeletal syndrome 4	Benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2354808.	NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) GRCh37: Chr19:45912070 GRCh38: Chr19:45408812	ERCC1, POLR1G	T282A, T284A	not provided, not specified	Conflicting interpretations of pathogenicity (Oct 28, 2020)	criteria provided, conflicting interpretations
Select item 2253489.	NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) GRCh37: Chr19:45924573 GRCh38: Chr19:45421315	ERCC1	E62*	Cerebrooculofacioskeletal syndrome 4	Likely pathogenic (Mar 18, 2016)	criteria provided, single submitter
Select item 1677810.	NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) GRCh37: Chr19:45918128 GRCh38: Chr19:45414870	ERCC1	F231L	Cerebrooculofacioskeletal syndrome 4	Pathogenic (May 2, 2013)	no assertion criteria provided
Select item 1677711.	NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) GRCh37: Chr19:45922409 GRCh38: Chr19:45419151	ERCC1	Q158*	Cerebrooculofacioskeletal syndrome 4	Pathogenic (Mar 1, 2007)	no assertion criteria provided