ClinVar for MedGen (Select 75657) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26279591.	NM_000123.4(ERCC5):c.323del (p.Lys108fs) GRCh37: Chr13:103506164 GRCh38: Chr13:102853814	BIVM-ERCC5, ERCC5	K108fs, K562fs	Xeroderma pigmentosum, group G	Likely pathogenic	criteria provided, single submitter
Select item 24439902.	NM_000123.4(ERCC5):c.2182T>A (p.Trp728Arg) GRCh37: Chr13:103518244 GRCh38: Chr13:102865894	BIVM-ERCC5, ERCC5, LOC126861834	W1182R, W728R	Xeroderma pigmentosum, group G	Uncertain significance	no assertion criteria provided
Select item 24439883.	NM_000123.4(ERCC5):c.381-2A>G GRCh37: Chr13:103506636 GRCh38: Chr13:102854286	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Likely pathogenic	no assertion criteria provided
Select item 17054884.	NM_000123.4(ERCC5):c.380+3A>T GRCh37: Chr13:103506225 GRCh38: Chr13:102853875	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 13359515.	NM_000123.4(ERCC5):c.673-2A>G GRCh37: Chr13:103513855 GRCh38: Chr13:102861505	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G, Cerebrooculofacioskeletal syndrome 3, not provided	Pathogenic/Likely pathogenic (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13058066.	NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser) GRCh37: Chr13:103514538 GRCh38: Chr13:102862188	BIVM-ERCC5, ERCC5	A347S, A801S	not provided, Xeroderma pigmentosum, group G, Cerebrooculofacioskeletal syndrome 3	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12520237.	NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) GRCh37: Chr13:103519054 GRCh38: Chr13:102866704	BIVM-ERCC5, ERCC5, LOC126861834	D1252Y, D798Y	not provided	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 9976128.	NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) GRCh37: Chr13:103528246 GRCh38: Chr13:102875896	BIVM-ERCC5, ERCC5	K1185T, K1639T	Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8835089.	NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg) GRCh37: Chr13:103528130 GRCh38: Chr13:102875780	BIVM-ERCC5, ERCC5	S1146R, S1600R	Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum, group G	Uncertain significance (Jun 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 88350710.	NM_000123.4(ERCC5):c.3421G>A (p.Gly1141Arg) GRCh37: Chr13:103528113 GRCh38: Chr13:102875763	BIVM-ERCC5, ERCC5	G1141R, G1595R	Xeroderma pigmentosum, group G	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 88346211.	NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp) GRCh37: Chr13:103519117 GRCh38: Chr13:102866767	BIVM-ERCC5, ERCC5, LOC126861834	R819W, R1273W	Xeroderma pigmentosum, group G, Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum, group G	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88346112.	NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr) GRCh37: Chr13:103519045 GRCh38: Chr13:102866695	LOC126861834, BIVM-ERCC5, ERCC5	A1249T, A795T	Xeroderma pigmentosum, group G, not specified, not provided	Uncertain significance (Nov 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88346013.	NM_000123.4(ERCC5):c.2248C>T (p.Leu750=) GRCh37: Chr13:103518660 GRCh38: Chr13:102866310	BIVM-ERCC5, ERCC5, LOC126861834		Xeroderma pigmentosum, group G	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88341614.	NM_000123.4(ERCC5):c.1043T>G (p.Met348Arg) GRCh37: Chr13:103514542 GRCh38: Chr13:102862192	ERCC5, BIVM-ERCC5	M802R, M348R	Xeroderma pigmentosum, group G	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 88341515.	NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala) GRCh37: Chr13:103514529 GRCh38: Chr13:102862179	BIVM-ERCC5, ERCC5	T344A, T798A	Hereditary cancer-predisposing syndrome, Xeroderma pigmentosum, group G	Uncertain significance (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88341416.	NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys) GRCh37: Chr13:103514431 GRCh38: Chr13:102862081	BIVM-ERCC5, ERCC5	S765C, S311C	Hereditary cancer-predisposing syndrome, not provided, Inborn genetic diseases, Xeroderma pigmentosum, group G	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88337417.	NM_000123.4(ERCC5):c.-146A>G GRCh37: Chr13:103498471 GRCh38: Chr13:102846121	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88337318.	NM_000123.4(ERCC5):c.-192A>C GRCh37: Chr13:103498425 GRCh38: Chr13:102846075	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88272319.	NM_000123.4(ERCC5):c.3411C>T (p.Pro1137=) GRCh37: Chr13:103528103 GRCh38: Chr13:102875753	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88272220.	NM_000123.4(ERCC5):c.3252C>T (p.Cys1084=) GRCh37: Chr13:103527944 GRCh38: Chr13:102875594	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88268221.	NM_000123.4(ERCC5):c.2191A>T (p.Ile731Phe) GRCh37: Chr13:103518253 GRCh38: Chr13:102865903	BIVM-ERCC5, ERCC5, LOC126861834	I1185F, I731F	Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88268122.	NM_000123.4(ERCC5):c.1955-6G>A GRCh37: Chr13:103518011 GRCh38: Chr13:102865661	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88268023.	NM_000123.4(ERCC5):c.1954+5G>A GRCh37: Chr13:103515458 GRCh38: Chr13:102863108	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G	Uncertain significance (May 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88263924.	NM_000123.4(ERCC5):c.664A>G (p.Met222Val) GRCh37: Chr13:103510760 GRCh38: Chr13:102858410	BIVM-ERCC5, ERCC5	M676V, M222V	Hereditary cancer-predisposing syndrome, Xeroderma pigmentosum, group G	Uncertain significance (Jul 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88258725.	NM_000123.3(ERCC5):c.-380C>T GRCh37: Chr13:103498237 GRCh38: Chr13:102845887	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88237226.	NM_000123.4(ERCC5):c.479A>T (p.Glu160Val) GRCh37: Chr13:103508413 GRCh38: Chr13:102856063	BIVM-ERCC5, ERCC5	E614V, E160V	Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88237127.	NM_000123.4(ERCC5):c.293C>T (p.Ala98Val) GRCh37: Chr13:103506135 GRCh38: Chr13:102853785	BIVM-ERCC5, ERCC5	A98V, A552V	Xeroderma pigmentosum, group G, Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum, group G	Uncertain significance (Dec 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88152028.	NM_000123.4(ERCC5):c.1771A>C (p.Ser591Arg) GRCh37: Chr13:103515270 GRCh38: Chr13:102862920	BIVM-ERCC5, ERCC5	S1045R, S591R	Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88151929.	NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp) GRCh37: Chr13:103514997 GRCh38: Chr13:102862647	BIVM-ERCC5, ERCC5	R954W, R500W	Xeroderma pigmentosum, group G, Inborn genetic diseases	Uncertain significance (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88114330.	NM_000123.4(ERCC5):c.*88C>T GRCh37: Chr13:103528341 GRCh38: Chr13:102875991	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 88114231.	NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His) GRCh37: Chr13:103528225 GRCh38: Chr13:102875875	BIVM-ERCC5, ERCC5	R1632H, R1178H	Xeroderma pigmentosum, group G, Ovarian cancer	Conflicting interpretations of pathogenicity (Jan 1, 2022)	criteria provided, conflicting interpretations
Select item 88110132.	NM_000123.4(ERCC5):c.2756G>A (p.Arg919Gln) GRCh37: Chr13:103524625 GRCh38: Chr13:102872275	BIVM-ERCC5, ERCC5	R1373Q, R919Q	Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88110033.	NM_000123.4(ERCC5):c.2604T>A (p.Thr868=) GRCh37: Chr13:103520533 GRCh38: Chr13:102868183	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88105834.	NM_000123.4(ERCC5):c.1132G>A (p.Val378Ile) GRCh37: Chr13:103514631 GRCh38: Chr13:102862281	BIVM-ERCC5, ERCC5	V378I, V832I	Xeroderma pigmentosum, group G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88101635.	NM_000123.4(ERCC5):c.246A>C (p.Leu82=) GRCh37: Chr13:103504625 GRCh38: Chr13:102852275	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88101536.	NM_000123.4(ERCC5):c.89-10A>G GRCh37: Chr13:103504458 GRCh38: Chr13:102852108	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88101437.	NM_000123.4(ERCC5):c.76A>G (p.Ile26Val) GRCh37: Chr13:103498692 GRCh38: Chr13:102846342	BIVM-ERCC5, ERCC5	I26V	Hereditary cancer-predisposing syndrome, Xeroderma pigmentosum, group G	Likely benign (Dec 21, 2020)	criteria provided, multiple submitters, no conflicts
Select item 88101338.	NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala) GRCh37: Chr13:103498648 GRCh38: Chr13:102846298	ERCC5, BIVM-ERCC5	E11A	Xeroderma pigmentosum, group G	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 80299939.	NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) GRCh37: Chr13:103515286 GRCh38: Chr13:102862936	BIVM-ERCC5, ERCC5	A1050G, A596G	Xeroderma pigmentosum, group G	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 80299840.	NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) GRCh37: Chr13:103515267 GRCh38: Chr13:102862917	BIVM-ERCC5, ERCC5	V1044I, V590I	Hereditary cancer-predisposing syndrome, not provided, Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (Aug 25, 2022)	criteria provided, conflicting interpretations
Select item 80299741.	NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) GRCh37: Chr13:103514020-103514021 GRCh38: Chr13:102861670-102861671	BIVM-ERCC5, ERCC5	V281fs, V735fs	Xeroderma pigmentosum, group G	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 74400042.	NM_000123.4(ERCC5):c.2280C>T (p.Ile760=) GRCh37: Chr13:103518692 GRCh38: Chr13:102866342	BIVM-ERCC5, ERCC5, LOC126861834		not provided, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 74033043.	NM_000123.4(ERCC5):c.294G>A (p.Ala98=) GRCh37: Chr13:103506136 GRCh38: Chr13:102853786	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G, not provided	Conflicting interpretations of pathogenicity (Apr 26, 2018)	criteria provided, conflicting interpretations
Select item 72897044.	NM_000123.4(ERCC5):c.2457G>A (p.Arg819=) GRCh37: Chr13:103519119 GRCh38: Chr13:102866769	BIVM-ERCC5, ERCC5, LOC126861834		not provided, Xeroderma pigmentosum, group G	Benign/Likely benign (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72896945.	NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) GRCh37: Chr13:103518036 GRCh38: Chr13:102865686	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G	Benign (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71902746.	NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=) GRCh37: Chr13:103528184 GRCh38: Chr13:102875834	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (May 17, 2022)	criteria provided, conflicting interpretations
Select item 63169547.	NM_000123.4(ERCC5):c.1129del (p.Ala377fs) GRCh37: Chr13:103514628 GRCh38: Chr13:102862278	BIVM-ERCC5, ERCC5	A377fs, A831fs	Xeroderma pigmentosum, group G	Uncertain significance (Dec 5, 2018)	criteria provided, single submitter
Select item 52235948.	NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) GRCh37: Chr13:103527869 GRCh38: Chr13:102875519	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52235849.	NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) GRCh37: Chr13:103519015 GRCh38: Chr13:102866665	BIVM-ERCC5, ERCC5, LOC126861834	Q785, Q1239	Xeroderma pigmentosum, group G	Likely pathogenic (Feb 20, 2017)	criteria provided, single submitter
Select item 52235750.	NM_000123.4(ERCC5):c.960C>T (p.Asp320=) GRCh37: Chr13:103514459 GRCh38: Chr13:102862109	ERCC5, BIVM-ERCC5		not provided, Xeroderma pigmentosum, group G	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31094651.	NM_000123.4(ERCC5):c.*89G>A GRCh37: Chr13:103528342 GRCh38: Chr13:102875992	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G, not provided	Benign (Feb 24, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31094552.	NM_000123.4(ERCC5):c.*84G>A GRCh37: Chr13:103528337 GRCh38: Chr13:102875987	ERCC5, BIVM-ERCC5		Xeroderma pigmentosum, group G, not provided	Benign (Nov 11, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31094453.	NM_000123.4(ERCC5):c.3532C>T (p.Arg1178Cys) GRCh37: Chr13:103528224 GRCh38: Chr13:102875874	BIVM-ERCC5, ERCC5	R1178C, R1632C	Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31094354.	NM_000123.4(ERCC5):c.3492C>A (p.Thr1164=) GRCh37: Chr13:103528184 GRCh38: Chr13:102875834	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 31094255.	NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=) GRCh37: Chr13:103528178 GRCh38: Chr13:102875828	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome, not provided	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 31094156.	NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) GRCh37: Chr13:103528120 GRCh38: Chr13:102875770	BIVM-ERCC5, ERCC5	A1143V, A1597V	not provided, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 31094057.	NM_000123.4(ERCC5):c.3412G>A (p.Val1138Met) GRCh37: Chr13:103528104 GRCh38: Chr13:102875754	BIVM-ERCC5, ERCC5	V1138M, V1592M	Hereditary cancer-predisposing syndrome, Xeroderma pigmentosum, group G	Uncertain significance (Dec 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31093958.	NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=) GRCh37: Chr13:103527695 GRCh38: Chr13:102875345	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G, not provided	Conflicting interpretations of pathogenicity (Jun 13, 2018)	criteria provided, conflicting interpretations
Select item 31093859.	NM_000123.4(ERCC5):c.2965-14T>A GRCh37: Chr13:103527643 GRCh38: Chr13:102875293	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31093760.	NM_000123.4(ERCC5):c.2844T>C (p.Phe948=) GRCh37: Chr13:103524713 GRCh38: Chr13:102872363	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31093661.	NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) GRCh37: Chr13:103524687 GRCh38: Chr13:102872337	BIVM-ERCC5, ERCC5	V940M, V1394M	Xeroderma pigmentosum, group G, Cerebrooculofacioskeletal syndrome 3, not provided, Xeroderma pigmentosum, group G, Inborn genetic diseases, Hereditary cancer-predisposing syndrome, not specified	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 31093562.	NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) GRCh37: Chr13:103524647 GRCh38: Chr13:102872297	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31093463.	NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu) GRCh37: Chr13:103520529 GRCh38: Chr13:102868179	BIVM-ERCC5, ERCC5	P867L, P1321L	Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum, group G	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31093364.	NM_000123.4(ERCC5):c.2534-10T>G GRCh37: Chr13:103520453 GRCh38: Chr13:102868103	BIVM-ERCC5, ERCC5		Hereditary cancer-predisposing syndrome, Xeroderma pigmentosum, group G, not provided	Conflicting interpretations of pathogenicity (Jan 16, 2022)	criteria provided, conflicting interpretations
Select item 31093265.	NM_000123.4(ERCC5):c.2320-15C>T GRCh37: Chr13:103518967 GRCh38: Chr13:102866617	BIVM-ERCC5, ERCC5, LOC126861834		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31093166.	NM_000123.4(ERCC5):c.2295C>T (p.Thr765=) GRCh37: Chr13:103518707 GRCh38: Chr13:102866357	BIVM-ERCC5, ERCC5, LOC126861834		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31093067.	NM_000123.4(ERCC5):c.2268G>C (p.Gln756His) GRCh37: Chr13:103518680 GRCh38: Chr13:102866330	LOC126861834, BIVM-ERCC5, ERCC5	Q756H, Q1210H	Xeroderma pigmentosum, group G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31092968.	NM_000123.4(ERCC5):c.2208G>C (p.Leu736Phe) GRCh37: Chr13:103518620 GRCh38: Chr13:102866270	BIVM-ERCC5, ERCC5, LOC126861834	L736F, L1190F	Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31092869.	NM_000123.4(ERCC5):c.2190T>C (p.Asp730=) GRCh37: Chr13:103518252 GRCh38: Chr13:102865902	BIVM-ERCC5, ERCC5, LOC126861834		Xeroderma pigmentosum, group G, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 31092770.	NM_000123.4(ERCC5):c.2100C>A (p.Leu700=) GRCh37: Chr13:103518162 GRCh38: Chr13:102865812	BIVM-ERCC5, ERCC5, LOC126861834		not provided, Xeroderma pigmentosum, group G	Benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31092671.	NM_000123.4(ERCC5):c.1926A>G (p.Glu642=) GRCh37: Chr13:103515425 GRCh38: Chr13:102863075	BIVM-ERCC5, ERCC5		not provided, Hereditary cancer-predisposing syndrome, Xeroderma pigmentosum, group G	Benign/Likely benign (Oct 6, 2020)	criteria provided, multiple submitters, no conflicts
Select item 31092572.	NM_000123.4(ERCC5):c.1917A>G (p.Glu639=) GRCh37: Chr13:103515416 GRCh38: Chr13:102863066	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 31092473.	NM_000123.4(ERCC5):c.1641C>T (p.Asn547=) GRCh37: Chr13:103515140 GRCh38: Chr13:102862790	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 31092374.	NM_000123.4(ERCC5):c.1563A>G (p.Glu521=) GRCh37: Chr13:103515062 GRCh38: Chr13:102862712	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31092275.	NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu) GRCh37: Chr13:103514959 GRCh38: Chr13:102862609	BIVM-ERCC5, ERCC5	P487L, P941L	Cerebrooculofacioskeletal syndrome 3, not provided, Xeroderma pigmentosum, group G	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31092176.	NM_000123.4(ERCC5):c.1287T>C (p.Asp429=) GRCh37: Chr13:103514786 GRCh38: Chr13:102862436	BIVM-ERCC5, ERCC5		Hereditary cancer-predisposing syndrome, not provided, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 31092077.	NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met) GRCh37: Chr13:103514731 GRCh38: Chr13:102862381	BIVM-ERCC5, ERCC5	T411M, T865M	Xeroderma pigmentosum, group G, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Nov 15, 2021)	criteria provided, conflicting interpretations
Select item 31091978.	NM_000123.4(ERCC5):c.1131T>A (p.Ala377=) GRCh37: Chr13:103514630 GRCh38: Chr13:102862280	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 31091879.	NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) GRCh37: Chr13:103514609 GRCh38: Chr13:102862259	ERCC5, BIVM-ERCC5		Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 31091780.	NM_000123.4(ERCC5):c.739A>G (p.Ile247Val) GRCh37: Chr13:103513923 GRCh38: Chr13:102861573	BIVM-ERCC5, ERCC5	I247V, I701V	Hereditary cancer-predisposing syndrome, not specified, Xeroderma pigmentosum, group G, not provided	Uncertain significance (Jul 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31091681.	NM_000123.4(ERCC5):c.670G>C (p.Glu224Gln) GRCh37: Chr13:103510766 GRCh38: Chr13:102858416	BIVM-ERCC5, ERCC5	E224Q, E678Q	Xeroderma pigmentosum, group G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31091582.	NM_000123.4(ERCC5):c.669A>C (p.Pro223=) GRCh37: Chr13:103510765 GRCh38: Chr13:102858415	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31091483.	NM_000123.4(ERCC5):c.542A>G (p.His181Arg) GRCh37: Chr13:103510638 GRCh38: Chr13:102858288	BIVM-ERCC5, ERCC5	H181R, H635R	Xeroderma pigmentosum, group G, Inborn genetic diseases, not provided	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31091384.	NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser) GRCh37: Chr13:103506699 GRCh38: Chr13:102854349	BIVM-ERCC5, ERCC5	P148S, P602S	not provided, Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum, group G, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 31091285.	NM_000123.4(ERCC5):c.429C>G (p.Leu143=) GRCh37: Chr13:103506686 GRCh38: Chr13:102854336	ERCC5, BIVM-ERCC5		Xeroderma pigmentosum, group G, not provided	Benign (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31091186.	NM_000123.4(ERCC5):c.127C>T (p.Arg43Trp) GRCh37: Chr13:103504506 GRCh38: Chr13:102852156	BIVM-ERCC5, ERCC5	R43W, R497W	Hereditary cancer-predisposing syndrome, Xeroderma pigmentosum, group G	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31091087.	NM_000123.4(ERCC5):c.-72C>T GRCh37: Chr13:103498545 GRCh38: Chr13:102846195	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G, not provided	Benign (Nov 11, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31090988.	NM_000123.4(ERCC5):c.-74G>A GRCh37: Chr13:103498543 GRCh38: Chr13:102846193	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G, not provided	Benign (Apr 3, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31090889.	NM_000123.4(ERCC5):c.-126A>G GRCh37: Chr13:103498491 GRCh38: Chr13:102846141	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31090790.	NM_000123.4(ERCC5):c.-156C>A GRCh37: Chr13:103498461 GRCh38: Chr13:102846111	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31090691.	NM_000123.4(ERCC5):c.-200G>C GRCh37: Chr13:103498417 GRCh38: Chr13:102846067	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G, not provided	Benign/Likely benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31090592.	NM_000123.3(ERCC5):c.-241G>C GRCh37: Chr13:103498376 GRCh38: Chr13:102846026	BIVM-ERCC5, ERCC5		Xeroderma pigmentosum, group G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31090493.	NM_000123.3(ERCC5):c.-242T>C GRCh37: Chr13:103498375 GRCh38: Chr13:102846025	BIVM-ERCC5, ERCC5		not provided, Xeroderma pigmentosum, group G	Benign (Nov 11, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31090394.	NM_000123.3(ERCC5):c.-419A>G GRCh37: Chr13:103498198 GRCh38: Chr13:102845848	ERCC5, BIVM-ERCC5		not provided, Xeroderma pigmentosum, group G	Benign (Nov 11, 2018)	criteria provided, multiple submitters, no conflicts
Select item 25516295.	NM_000123.4(ERCC5):c.945C>T (p.His315=) GRCh37: Chr13:103514444 GRCh38: Chr13:102862094	ERCC5, BIVM-ERCC5		Hereditary cancer-predisposing syndrome, not specified, not provided, Xeroderma pigmentosum, group G	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25516196.	NM_000123.4(ERCC5):c.2879+14C>T GRCh37: Chr13:103524762 GRCh38: Chr13:102872412	BIVM-ERCC5, ERCC5		Cerebrooculofacioskeletal syndrome 3, not specified, Xeroderma pigmentosum, group G, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25516097.	NM_000123.4(ERCC5):c.264+7G>A GRCh37: Chr13:103504650 GRCh38: Chr13:102852300	BIVM-ERCC5, ERCC5		not specified, not provided, Xeroderma pigmentosum, group G	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25515998.	NM_000123.4(ERCC5):c.1440C>T (p.His480=) GRCh37: Chr13:103514939 GRCh38: Chr13:102862589	BIVM-ERCC5, ERCC5		not specified, not provided, Xeroderma pigmentosum, group G	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20857699.	NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) GRCh37: Chr13:103527930 GRCh38: Chr13:102875580	BIVM-ERCC5, ERCC5	R1080, G1080, G1534*	not specified, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (Jul 7, 2022)	criteria provided, conflicting interpretations
Select item 134195100.	NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) GRCh37: Chr13:103515288 GRCh38: Chr13:102862938	BIVM-ERCC5, ERCC5	V597L, V1051L	Cerebrooculofacioskeletal syndrome 3, Hereditary cancer-predisposing syndrome, not provided, Xeroderma pigmentosum, group G	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations

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