ERCC8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 144267	GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1	DEPDC1B, DIMT1 +49 more	Copy number loss	See cases	GPathogenic
Select item 144745	GRCh38/hg38 5q12.1(chr5:60609368-60885007)x1	DEPDC1B, ELOVL7 +7 more	Copy number loss	See cases	GUncertain significance
Select item 354003	NM_000082.4(ERCC8):c.*763A>C	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 354004	NM_000082.4(ERCC8):c.*725T>G	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 354005	NM_000082.4(ERCC8):c.*724C>G	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906683	NM_000082.4(ERCC8):c.*644G>A	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906684	NM_000082.4(ERCC8):c.*602C>G	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906685	NM_000082.4(ERCC8):c.*583T>C	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GBenign
Select item 354006	NM_000082.4(ERCC8):c.*519C>A	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1 +1 more	GBenign
Select item 354007	NM_000082.4(ERCC8):c.*462T>A	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906686	NM_000082.4(ERCC8):c.*458T>C	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1 +1 more	GBenign
Select item 354008	NM_000082.4(ERCC8):c.*439G>T	ERCC8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 906687	NM_000082.4(ERCC8):c.*377C>G	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 354009	NM_000082.4(ERCC8):c.373_375dup	ERCC8	Duplication (3 prime UTR variant)	Cockayne syndrome	GUncertain significance
Select item 354010	NM_000082.4(ERCC8):c.*237T>C	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1 +1 more	GBenign/Likely benign
Select item 907712	NM_000082.4(ERCC8):c.*116T>C	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 907713	NM_000082.4(ERCC8):c.*113A>G	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 354011	NM_000082.4(ERCC8):c.*105T>C	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1 +1 more	GBenign
Select item 354012	NM_000082.4(ERCC8):c.*36C>T	ERCC8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 647952	NC_000005.10:g.(?_60874605)_(61073224_?)del	ERCC8, ERCC8-AS1 +2 more	Deletion	not provided	GPathogenic
Select item 907714	NM_000082.4(ERCC8):c.*7T>A	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 557143	NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs)	ERCC8 (G396fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GUncertain significance
Select item 1154446	NM_000082.4(ERCC8):c.1190G>A (p.Ter397=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 556753	NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del)	ERCC8 (E395del +2 more)	Microsatellite (inframe_deletion)	Cockayne syndrome type 1	GUncertain significance
Select item 1400566	NM_000082.4(ERCC8):c.1183G>A (p.Glu395Lys)	ERCC8 (E242K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1080671	NM_000082.4(ERCC8):c.1170C>T (p.Ser390=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633536	NM_000082.4(ERCC8):c.1164C>T (p.Ala388=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1101274	NM_000082.4(ERCC8):c.1164C>G (p.Ala388=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 907715	NM_000082.4(ERCC8):c.1159G>C (p.Asp387His)	ERCC8 (D329H +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1	GUncertain significance
Select item 1380741	NM_000082.4(ERCC8):c.1156G>A (p.Glu386Lys)	ERCC8 (E386K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1126304	NM_000082.4(ERCC8):c.1149G>A (p.Pro383=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398886	NM_000082.4(ERCC8):c.1148C>T (p.Pro383Leu)	ERCC8 (P230L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736240	NM_000082.4(ERCC8):c.1140A>G (p.Gln380=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 555817	NM_000082.4(ERCC8):c.1137del (p.Gln380fs)	ERCC8 (Q322fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GUncertain significance
Select item 252461	NM_000082.4(ERCC8):c.1129A>G (p.Thr377Ala)	ERCC8 (T377A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 554003	NM_000082.4(ERCC8):c.1125del (p.Thr376fs)	ERCC8 (T376fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GUncertain significance
Select item 1430221	NM_000082.4(ERCC8):c.1123-2A>G	ERCC8	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 702307	NM_000082.4(ERCC8):c.1123-3dup	ERCC8	Duplication (intron variant)	not provided	GBenign
Select item 1135154	NM_000082.4(ERCC8):c.1123-4T>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776454	NM_000082.4(ERCC8):c.1123-6T>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550096	NM_000082.4(ERCC8):c.1123-8T>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767171	NM_000082.4(ERCC8):c.1123-9T>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790833	NM_000082.4(ERCC8):c.1123-15_1123-14del	ERCC8	Deletion (intron variant)	not provided	GLikely benign
Select item 3005904	NM_000082.4(ERCC8):c.1123-15del	ERCC8	Deletion (intron variant)	not provided	GLikely benign
Select item 3005905	NM_000082.4(ERCC8):c.1123-17A>T	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732563	NM_000082.4(ERCC8):c.1123-17A>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002865	NM_000082.4(ERCC8):c.1123-21_1123-18del	ERCC8	Deletion (intron variant)	not provided	GLikely benign
Select item 2919606	NM_000082.4(ERCC8):c.1123-23_1123-18del	ERCC8	Deletion (intron variant)	not provided	GLikely benign
Select item 2162974	NM_000082.4(ERCC8):c.1123-20_1123-18del	ERCC8	Deletion (intron variant)	not provided	GLikely benign
Select item 1288003	NM_000082.4(ERCC8):c.1123-48A>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178872	NM_000082.4(ERCC8):c.1123-95A>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 148815	GRCh38/hg38 5q12.1(chr5:60884948-61132933)x0	ERCC8, ERCC8-AS1 +2 more	Copy number loss	See cases	GPathogenic
Select item 1175679	NM_000082.4(ERCC8):c.1122+193G>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2813086	NM_000082.4(ERCC8):c.1122+10_1122+12del	ERCC8	Microsatellite (intron variant)	not provided	GLikely benign
Select item 558388	NM_000082.4(ERCC8):c.1122+1G>A	ERCC8	Single nucleotide variant (splice donor variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 2203652	NM_000082.4(ERCC8):c.1122G>C (p.Glu374Asp)	ERCC8 (E221D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063484	NM_000082.4(ERCC8):c.1117G>T (p.Asp373Tyr)	ERCC8 (D315Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901452	NM_000082.4(ERCC8):c.1116T>C (p.Asp372=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 354013	NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu)	ERCC8 (V369L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1353369	NM_000082.4(ERCC8):c.1103C>G (p.Pro368Arg)	ERCC8 (P215R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 550008	NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs)	ERCC8 (Y308fs +2 more)	Duplication (frameshift variant)	Cockayne syndrome type 1	GUncertain significance
Select item 1607596	NM_000082.4(ERCC8):c.1095A>G (p.Leu365=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139878	NM_000082.4(ERCC8):c.1092C>T (p.Ser364=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991514	NM_000082.4(ERCC8):c.1089A>G (p.Pro363=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747455	NM_000082.4(ERCC8):c.1089A>C (p.Pro363=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896280	NM_000082.4(ERCC8):c.1086T>G (p.Val362=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 68752	NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys)	ERCC8 (W361C +2 more)	Single nucleotide variant (missense variant)	UV-sensitive syndrome 2	GPathogenic
Select item 193795	NM_000082.4(ERCC8):c.1080T>C (p.Ala360=)	ERCC8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2036498	NM_000082.4(ERCC8):c.1071C>T (p.Asn357=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 354014	NM_000082.4(ERCC8):c.1070A>G (p.Asn357Ser)	ERCC8 (N357S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 934772	NM_000082.4(ERCC8):c.1068C>A (p.Cys356Ter)	ERCC8 (C203* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 753631	NM_000082.4(ERCC8):c.1068C>T (p.Cys356=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522656	NM_000082.4(ERCC8):c.1057A>G (p.Ser353Gly)	ERCC8 (S200G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1964035	NM_000082.4(ERCC8):c.1055del (p.Gly352fs)	ERCC8 (G199fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1931918	NM_000082.4(ERCC8):c.1053T>C (p.Ser351=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 846227	NM_000082.4(ERCC8):c.1053del (p.Ser351fs)	ERCC8 (S198fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2970188	NM_000082.4(ERCC8):c.1050T>C (p.Tyr350=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627165	NM_000082.4(ERCC8):c.1047T>C (p.Leu349=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552026	NM_000082.4(ERCC8):c.1044A>G (p.Glu348=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 557955	NM_000082.4(ERCC8):c.1042-1G>A	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 551549	NM_000082.4(ERCC8):c.1042-1G>C	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 551594	NM_000082.4(ERCC8):c.1042-2A>G	ERCC8	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1123334	NM_000082.4(ERCC8):c.1042-6dup	ERCC8	Duplication (intron variant)	not provided	GLikely benign
Select item 763607	NM_000082.4(ERCC8):c.1042-8T>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 702081	NM_000082.4(ERCC8):c.1042-9A>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919248	NM_000082.4(ERCC8):c.1042-14C>T	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843746	NM_000082.4(ERCC8):c.1042-15C>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015218	NM_000082.4(ERCC8):c.1042-16G>T	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221804	NM_000082.4(ERCC8):c.1041+98G>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554833	NM_000082.4(ERCC8):c.1041+19T>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958723	NM_000082.4(ERCC8):c.1041+15G>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003079	NM_000082.4(ERCC8):c.1041+13C>T	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909619	NM_000082.4(ERCC8):c.1041+12dup	ERCC8	Duplication (intron variant)	not provided	GLikely benign
Select item 2878703	NM_000082.4(ERCC8):c.1041+13C>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782944	NM_000082.4(ERCC8):c.1041+11T>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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