Related gene-specific medical variations for Gene (Select 1161) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3002418	NM_000082.4(ERCC8):c.276-14T>C	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2970586	NM_000082.4(ERCC8):c.399+16C>T	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877358	NM_000082.4(ERCC8):c.336T>A (p.Thr112=)	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2859025	NM_000082.4(ERCC8):c.276-19T>C	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2840746	NM_000082.4(ERCC8):c.300C>T (p.Tyr100=)	ERCC8, ERCC8-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2825386	NM_000082.4(ERCC8):c.303T>C (p.Ser101=)	ERCC8-AS1, ERCC8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2822160	NM_000082.4(ERCC8):c.399+7A>G	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795688	NM_000082.4(ERCC8):c.378del (p.Trp127fs)	ERCC8, ERCC8-AS1 (M1fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2782939	NM_000082.4(ERCC8):c.276-12G>T	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2764027	NM_000082.4(ERCC8):c.276-15A>G	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2752663	NM_000082.4(ERCC8):c.276-17T>G	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2746108	NM_000082.4(ERCC8):c.315A>G (p.Val105=)	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2710633	NM_000082.4(ERCC8):c.397del (p.Gln133fs)	ERCC8, ERCC8-AS1 (Q133fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2674622	NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]	ERCC8	Indel	Cockayne syndrome type 1	GPathogenic
Select item 2440094	NM_000082.4(ERCC8):c.427del (p.Thr143fs)	ERCC8 (T143fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2421074	NM_000082.4(ERCC8):c.313G>A (p.Val105Ile)	ERCC8, ERCC8-AS1 (V105I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2309751	NM_000082.4(ERCC8):c.328C>G (p.His110Asp)	ERCC8, ERCC8-AS1 (H110D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307563	NM_000082.4(ERCC8):c.379T>C (p.Trp127Arg)	ERCC8, ERCC8-AS1 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269079	NM_000082.4(ERCC8):c.337G>A (p.Gly113Ser)	ERCC8, ERCC8-AS1 (G55S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2198875	NM_000082.4(ERCC8):c.399+19T>C	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2112784	NM_000082.4(ERCC8):c.309G>A (p.Glu103=)	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2093227	NM_000082.4(ERCC8):c.354C>T (p.Ser118=)	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2067307	NM_000082.4(ERCC8):c.304G>T (p.Val102Leu)	ERCC8, ERCC8-AS1 (V102L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956687	NM_000082.4(ERCC8):c.290T>A (p.Val97Asp)	ERCC8, ERCC8-AS1 (V97D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935017	NM_000082.4(ERCC8):c.350C>G (p.Ser117Ter)	ERCC8, ERCC8-AS1 (S117* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1916019	NM_000082.4(ERCC8):c.384T>C (p.Asp128=)	ERCC8, ERCC8-AS1 (Y3H)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1608237	NM_000082.4(ERCC8):c.318G>A (p.Gln106=)	ERCC8, ERCC8-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1497683	NM_000082.4(ERCC8):c.353G>A (p.Ser118Asn)	ERCC8, ERCC8-AS1 (S118N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1453268	NM_000082.4(ERCC8):c.381G>A (p.Trp127Ter)	ERCC8, ERCC8-AS1 (W127* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1268448	NM_000082.4(ERCC8):c.276-288A>T	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189240	NM_000082.4(ERCC8):c.276-138A>C	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1151120	NM_000082.4(ERCC8):c.393A>G (p.Thr131=)	ERCC8, ERCC8-AS1 (I6V)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1148504	NM_000082.4(ERCC8):c.378A>G (p.Val126=)	ERCC8, ERCC8-AS1 (M1V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1129549	NM_000082.4(ERCC8):c.294C>T (p.His98=)	ERCC8, ERCC8-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1117180	NM_000082.4(ERCC8):c.276-4G>A	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1109409	NM_000082.4(ERCC8):c.390T>C (p.Asn130=)	ERCC8, ERCC8-AS1 (Y5H)	Single nucleotide variant (synonymous variant +1 more)	Cockayne syndrome type 1 +2 more	GLikely benign
Select item 1099754	NM_000082.4(ERCC8):c.285T>C (p.Pro95=)	ERCC8, ERCC8-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1095443	NM_000082.4(ERCC8):c.348A>T (p.Thr116=)	ERCC8, ERCC8-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1069323	NM_000082.4(ERCC8):c.356C>A (p.Ser119Ter)	ERCC8-AS1, ERCC8 (S119* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1068358	NM_000082.4(ERCC8):c.276-1G>A	ERCC8, ERCC8-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	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 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 906768	NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr)	ERCC8, ERCC8-AS1 (S101T +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 1	GUncertain significance
Select item 906767	NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn)	ERCC8, ERCC8-AS1 (D70N +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906766	NM_000082.4(ERCC8):c.399+3A>G	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	Cockayne syndrome type 1	GUncertain significance
Select item 816991	NM_000082.4(ERCC8):c.350C>A (p.Ser117Ter)	ERCC8, ERCC8-AS1 (S117* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 799615	NM_000082.4(ERCC8):c.276-6T>C	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 766330	NM_000082.4(ERCC8):c.348A>G (p.Thr116=)	ERCC8, ERCC8-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 764270	NM_000082.4(ERCC8):c.399+8C>T	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 685742	GRCh37/hg19 5q12.1(chr5:60166094-60217776)x1	ERCC8	Copy number loss	not provided	GPathogenic
Select item 661197	NC_000005.10:g.(?_60918255)_(60918398_?)del	ERCC8, ERCC8-AS1	Deletion	not provided	GPathogenic
Select item 635323	NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)	ERCC8, ERCC8-AS1 (W49* +1 more)	Duplication (nonsense +1 more)	Cockayne syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 586967	NM_000082.4(ERCC8):c.78-2A>T	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GPathogenic
Select item 558687	NM_000082.4(ERCC8):c.313_314del (p.Val105fs)	ERCC8, ERCC8-AS1 (V105fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 554811	NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)	ERCC8, ERCC8-AS1 (I6fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 554190	NM_000082.4(ERCC8):c.276-2A>G	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 550005	NM_000082.4(ERCC8):c.399+1G>A	ERCC8, ERCC8-AS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 498016	NM_000082.4(ERCC8):c.299dup (p.Tyr100Ter)	ERCC8, ERCC8-AS1 (Y100* +1 more)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 430102	NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)	ERCC8, ERCC8-AS1 (R41fs +1 more)	Indel (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 371025	NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)	ERCC8, ERCC8-AS1 (Y100* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 354020	NM_000082.4(ERCC8):c.311C>G (p.Thr104Ser)	ERCC8, ERCC8-AS1 (T104S +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 1	GUncertain significance
Select item 190176	NM_000082.4(ERCC8):c.363T>C (p.Asp121=)	ERCC8-AS1, ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 68755	NM_000082.4(ERCC8):c.605T>C (p.Leu202Ser)	ERCC8 (L202S +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68754	NM_000082.4(ERCC8):c.582G>C (p.Trp194Cys)	ERCC8 (W194C +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1714	NM_000082.3:c.844_1122del	ERCC8	Deletion	Cockayne syndrome type 1	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 65