ClinVar for Gene (Select 1161) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062834	GRCh37/hg19 5q12.1(chr5:60111731-60809784)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3036072	NM_000082.4(ERCC8):c.550+26A>C	ERCC8	Single nucleotide variant (synonymous variant +1 more)	ERCC8-related condition	GLikely benign
Select item 3022088	NM_000082.4(ERCC8):c.569dup (p.Leu190fs)	ERCC8 (L132fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3018314	NM_000082.4(ERCC8):c.551-20del	ERCC8	Deletion (intron variant)	not provided	GLikely benign
Select item 3016834	NM_000082.4(ERCC8):c.532T>A (p.Cys178Ser)	ERCC8 (C25S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015218	NM_000082.4(ERCC8):c.1042-16G>T	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013393	NM_000082.4(ERCC8):c.78-8T>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011853	NM_000082.4(ERCC8):c.482-18C>A	ERCC8	Single nucleotide variant (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 3005904	NM_000082.4(ERCC8):c.1123-15del	ERCC8	Deletion (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 3002865	NM_000082.4(ERCC8):c.1123-21_1123-18del	ERCC8	Deletion (intron variant)	not provided	GLikely benign
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 3000695	NM_000082.4(ERCC8):c.547C>T (p.Gln183Ter)	ERCC8 (Q30* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2995908	NM_000082.4(ERCC8):c.481+16C>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995207	NM_000082.4(ERCC8):c.481+14T>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993395	NM_000082.4(ERCC8):c.718+12C>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985462	NM_000082.4(ERCC8):c.507A>G (p.Gln169=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982172	NM_000082.4(ERCC8):c.467_468dup (p.Cys157fs)	ERCC8 (C157fs +1 more)	Duplication (intron variant +1 more)	not provided	GPathogenic
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 2970188	NM_000082.4(ERCC8):c.1050T>C (p.Tyr350=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964154	NM_000082.4(ERCC8):c.18C>A (p.Ser6=)	ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960810	NM_000082.4(ERCC8):c.843+7G>T	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 2919606	NM_000082.4(ERCC8):c.1123-23_1123-18del	ERCC8	Deletion (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 2917892	NM_000082.4(ERCC8):c.585T>G (p.Ser195=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910477	NM_000082.4(ERCC8):c.718+13G>A	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 2906474	NM_000082.4(ERCC8):c.684A>G (p.Gln228=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904485	NM_000082.4(ERCC8):c.173+1119G>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903362	NM_000082.4(ERCC8):c.618-20T>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901452	NM_000082.4(ERCC8):c.1116T>C (p.Asp372=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897252	NM_000082.4(ERCC8):c.718+12C>T	ERCC8	Single nucleotide variant (intron 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 2886896	NM_000082.4(ERCC8):c.78-14dup	ERCC8	Duplication (intron variant)	not provided	GBenign
Select item 2885775	NM_000082.4(ERCC8):c.663A>T (p.Gly221=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883837	NM_000082.4(ERCC8):c.78-16C>T	ERCC8	Single nucleotide variant (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 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 2874617	NM_000082.4(ERCC8):c.174-5A>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873520	NM_000082.4(ERCC8):c.718+18A>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873266	NM_000082.4(ERCC8):c.78-14del	ERCC8	Deletion (intron variant)	not provided	GBenign
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 2855017	NM_000082.4(ERCC8):c.173+12A>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854202	NM_000082.4(ERCC8):c.894T>C (p.Thr298=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851988	NM_000082.4(ERCC8):c.129C>G (p.Gly43=)	ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2851974	NM_000082.4(ERCC8):c.777C>T (p.His259=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850151	NM_000082.4(ERCC8):c.544C>T (p.Leu182=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849921	NM_000082.4(ERCC8):c.24C>A (p.Arg8=)	ERCC8	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 2840146	NM_000082.4(ERCC8):c.77+14T>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839529	NM_000082.4(ERCC8):c.243T>G (p.Tyr81Ter)	ERCC8 (Y81* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2837874	NM_000082.4(ERCC8):c.77+15A>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830069	NM_000082.4(ERCC8):c.481+18T>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825806	NM_000082.4(ERCC8):c.153T>A (p.Ile51=)	ERCC8	Single nucleotide variant (synonymous variant +1 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 2821423	NM_000082.4(ERCC8):c.927T>C (p.Phe309=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819255	NM_000082.4(ERCC8):c.173+18G>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814236	NM_000082.4(ERCC8):c.48T>A (p.Leu16=)	ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813086	NM_000082.4(ERCC8):c.1122+10_1122+12del	ERCC8	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2810576	NM_000082.4(ERCC8):c.844-15A>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808803	NM_000082.4(ERCC8):c.249A>C (p.Thr83=)	ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802930	NM_000082.4(ERCC8):c.77+10A>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796606	NM_000082.4(ERCC8):c.720A>C (p.Ala240=)	ERCC8	Single nucleotide variant (synonymous 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 2794198	NM_000082.4(ERCC8):c.77+18T>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793780	NM_000082.4(ERCC8):c.918A>G (p.Glu306=)	ERCC8	Single nucleotide variant (synonymous 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 2788432	NM_000082.4(ERCC8):c.240T>C (p.Ser80=)	ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787340	NM_000082.4(ERCC8):c.719-16A>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783838	NM_000082.4(ERCC8):c.618-13T>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783703	NM_000082.4(ERCC8):c.6G>A (p.Leu2=)	ERCC8	Single nucleotide variant (synonymous variant +1 more)	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
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 2776454	NM_000082.4(ERCC8):c.1123-6T>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771121	NM_000082.4(ERCC8):c.573A>G (p.Ala191=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770463	NM_000082.4(ERCC8):c.551-5dup	ERCC8	Duplication (intron variant)	not provided	GLikely benign
Select item 2769209	NM_000082.4(ERCC8):c.852T>C (p.Tyr284=)	ERCC8	Single nucleotide variant (synonymous 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 2767065	NM_000082.4(ERCC8):c.798T>C (p.Asp266=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764377	NM_000082.4(ERCC8):c.618-16A>G	ERCC8	Single nucleotide variant (intron variant)	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 2763305	NM_000082.4(ERCC8):c.482-4A>G	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759616	NM_000082.4(ERCC8):c.123C>A (p.Ile41=)	ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2755087	NM_000082.4(ERCC8):c.703C>T (p.Gln235Ter)	ERCC8 (Q177* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2755073	NM_000082.4(ERCC8):c.831A>G (p.Gly277=)	ERCC8	Single nucleotide variant (synonymous variant)	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 2743683	NM_000082.4(ERCC8):c.768T>C (p.Asp256=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743599	NM_000082.4(ERCC8):c.111T>C (p.Asp37=)	ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2743277	NM_000082.4(ERCC8):c.719-4G>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741741	NM_000082.4(ERCC8):c.481+20del	ERCC8	Deletion (intron variant)	not provided	GBenign
Select item 2739022	NM_000082.4(ERCC8):c.482-16G>A	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737885	NM_000082.4(ERCC8):c.77+17T>C	ERCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737064	NM_000082.4(ERCC8):c.173+2T>A	ERCC8	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2732883	NM_000082.4(ERCC8):c.617+16T>C	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

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