ClinVar for MedGen (Select 766212) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11094091.	NM_000082.4(ERCC8):c.390T>C (p.Asn130=) GRCh37: Chr5:60214101 GRCh38: Chr5:60918274	ERCC8, ERCC8-AS1	Y5H	Cockayne syndrome type 1, UV-sensitive syndrome 2, not provided	Likely benign (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8389662.	NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) GRCh37: Chr5:60194144 GRCh38: Chr5:60898317	ERCC8	R115, R210, R268*	Cockayne syndrome, UV-sensitive syndrome 2, Cockayne syndrome type 1, not provided	Pathogenic/Likely pathogenic (Mar 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 5907883.	NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) GRCh37: Chr5:60194177 GRCh38: Chr5:60898350	ERCC8	G257R, G104R, G199R	not provided, Cockayne syndrome, Cockayne syndrome type 1, UV-sensitive syndrome 2, Cockayne syndrome type 1	Pathogenic/Likely pathogenic (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5515944.	NM_000082.4(ERCC8):c.1042-2A>G GRCh37: Chr5:60183349 GRCh38: Chr5:60887522	ERCC8		Cockayne syndrome type 1, UV-sensitive syndrome 2, Cockayne syndrome type 1, not provided	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5462405.	NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn) GRCh37: Chr5:60186745 GRCh38: Chr5:60890918	ERCC8	D338N, D185N, D280N	not provided, UV-sensitive syndrome 2, Cockayne syndrome type 1, Cockayne syndrome type 1	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 3710256.	NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) GRCh37: Chr5:60214191 GRCh38: Chr5:60918364	ERCC8, ERCC8-AS1	Y100, Y42	Cockayne syndrome, UV-sensitive syndrome 2, Cockayne syndrome type 1, not provided	Pathogenic (Dec 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1901777.	NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) GRCh37: Chr5:60200665 GRCh38: Chr5:60904838	ERCC8		not specified, not provided, UV-sensitive syndrome 2, Cockayne syndrome type 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 687528.	NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys) GRCh37: Chr5:60183306 GRCh38: Chr5:60887479	ERCC8	W361C, W208C, W303C	UV-sensitive syndrome 2	Pathogenic (Apr 14, 2009)	no assertion criteria provided
Select item 17169.	NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) GRCh37: Chr5:60240799 GRCh38: Chr5:60944972	NDUFAF2, ERCC8	E13*	Cockayne syndrome, UV-sensitive syndrome 2, Cockayne syndrome type 1, not provided, Cockayne syndrome type 1	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts