C0751039[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984142	NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter)	ERCC8 (Q173* +2 more)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984143	NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter)	ERCC8 (C148* +2 more)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984261	NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter)	ERCC8 (W156* +2 more)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GLikely pathogenic
Select item 551068	NM_000082.4(ERCC8):c.618-1G>A	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1 +1 more	GPathogenic
Select item 1726886	NM_000082.4(ERCC8):c.592del (p.Tyr198fs)	ERCC8 (Y140fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1724342	NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)	ERCC8 (Q129* +2 more)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1725733	NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs)	ERCC8 (T154fs +1 more)	Microsatellite (frameshift variant +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984262	NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter)	ERCC8, ERCC8-AS1 (Q133* +2 more)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984263	NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter)	ERCC8, ERCC8-AS1 (Y100* +1 more)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1726034	NM_000082.4(ERCC8):c.274dup (p.Arg92fs)	ERCC8 (R34fs +1 more)	Duplication (frameshift variant +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984264	NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)	ERCC8 (S3* +1 more)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 984265	NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)	ERCC8 (L32*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1716	NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)	ERCC8, NDUFAF2 (E13*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1 +3 more	GPathogenic/Likely pathogenic