ClinVar for MedGen (Select 75656) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 141

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24418121.	NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs) GRCh37: Chr19:45855791-45855792 GRCh38: Chr19:45352533-45352534	ERCC2	D673fs	Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum, group D, Cerebrooculofacioskeletal syndrome 2	Likely pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 24318522.	NM_000400.4(ERCC2):c.2186dup (p.His729fs) GRCh37: Chr19:45855470-45855471 GRCh38: Chr19:45352212-45352213	ERCC2	H729fs	Xeroderma pigmentosum, group D	Likely pathogenic (Jan 13, 2023)	criteria provided, single submitter
Select item 24291483.	NM_000400.4(ERCC2):c.[1381C>G;2150C>G] GRCh37: Chr19:45860626 Chr19:45855507 GRCh38: Chr19:45357368 Chr19:45352249	ERCC2, ERCC2	L461V, A717G	Xeroderma pigmentosum	Pathogenic (Jan 4, 2023)	criteria provided, single submitter
Select item 16857734.	NM_000400.4(ERCC2):c.851del (p.Glu284fs) GRCh37: Chr19:45867342 GRCh38: Chr19:45364084	ERCC2	E260fs, E284fs	Xeroderma pigmentosum, group D	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16857725.	NM_000400.4(ERCC2):c.949+5G>A GRCh37: Chr19:45867239 GRCh38: Chr19:45363981	ERCC2		not provided, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Sep 17, 2022)	criteria provided, conflicting interpretations
Select item 14303386.	NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) GRCh37: Chr19:45855573 GRCh38: Chr19:45352315	ERCC2	R695H	Trichothiodystrophy 1, photosensitive, Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D, not provided, Xeroderma pigmentosum	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13974337.	NM_000400.4(ERCC2):c.860G>A (p.Arg287His) GRCh37: Chr19:45867333 GRCh38: Chr19:45364075	ERCC2	R263H, R287H	Trichothiodystrophy 1, photosensitive, Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13941008.	NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) GRCh37: Chr19:45873396 GRCh38: Chr19:45370138	ERCC2	A10T, A34T	Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum, group D, not provided	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13294849.	NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly) GRCh37: Chr19:45855838 GRCh38: Chr19:45352580	ERCC2	R658G	Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum, group D	Likely pathogenic (Jun 15, 2021)	criteria provided, single submitter
Select item 132282910.	NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) GRCh37: Chr19:45868096-45868099 GRCh38: Chr19:45364838-45364841	ERCC2		Xeroderma pigmentosum, group D	Pathogenic (Jan 1, 1997)	no assertion criteria provided
Select item 132063711.	NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) GRCh37: Chr19:45868191 GRCh38: Chr19:45364933	ERCC2	E143Q, E167Q	not provided, Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D, Trichothiodystrophy 1, photosensitive	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131942412.	NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) GRCh37: Chr19:45873404 GRCh38: Chr19:45370146	ERCC2	T31M, T7M	Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum, group D, not provided	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120621713.	NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) GRCh37: Chr19:45858100 GRCh38: Chr19:45354842	ERCC2	R518Q	Inborn genetic diseases, Xeroderma pigmentosum, group D, Trichothiodystrophy 1, photosensitive, Cerebrooculofacioskeletal syndrome 2, not provided	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117504014.	NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) GRCh37: Chr19:45867588 GRCh38: Chr19:45364330	ERCC2	D216E, D240E	Inborn genetic diseases, not provided, Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D, Trichothiodystrophy 1, photosensitive	Uncertain significance (Nov 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116224115.	NM_000400.4(ERCC2):c.2010C>T (p.Gly670=) GRCh37: Chr19:45855800 GRCh38: Chr19:45352542	ERCC2		Xeroderma pigmentosum, group D	Likely pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 102982216.	NM_000400.4(ERCC2):c.949+3G>T GRCh37: Chr19:45867241 GRCh38: Chr19:45363983	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jul 17, 2019)	criteria provided, single submitter
Select item 102872917.	NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) GRCh37: Chr19:45855803-45855804 GRCh38: Chr19:45352545-45352546	ERCC2	K671fs	not provided, Xeroderma pigmentosum, group D	Pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89471218.	NM_000400.4(ERCC2):c.32A>G (p.Tyr11Cys) GRCh37: Chr19:45873464 GRCh38: Chr19:45370206	ERCC2	Y11C	not provided, Xeroderma pigmentosum, group D	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89471119.	NM_000400.4(ERCC2):c.57C>T (p.Pro19=) GRCh37: Chr19:45873439 GRCh38: Chr19:45370181	ERCC2		not provided, Xeroderma pigmentosum, group D, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 19, 2022)	criteria provided, conflicting interpretations
Select item 89471020.	NM_000400.4(ERCC2):c.184-5G>C GRCh37: Chr19:45872255 GRCh38: Chr19:45368997	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89470921.	NM_000400.4(ERCC2):c.229G>A (p.Val77Met) GRCh37: Chr19:45872205 GRCh38: Chr19:45368947	ERCC2	V53M, V77M	Xeroderma pigmentosum, group D, Inborn genetic diseases	Uncertain significance (Dec 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89468622.	NM_000400.4(ERCC2):c.978C>G (p.Ala326=) GRCh37: Chr19:45867141 GRCh38: Chr19:45363883	ERCC2		Xeroderma pigmentosum, group D, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 6, 2019)	criteria provided, conflicting interpretations
Select item 89468523.	NM_000400.4(ERCC2):c.1307+14C>G GRCh37: Chr19:45860874 GRCh38: Chr19:45357616	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89468424.	NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) GRCh37: Chr19:45860770 GRCh38: Chr19:45357512	ERCC2	V447I	Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Jun 5, 2020)	criteria provided, conflicting interpretations
Select item 89468325.	NM_000400.4(ERCC2):c.1349G>A (p.Arg450His) GRCh37: Chr19:45860760 GRCh38: Chr19:45357502	ERCC2	R450H	not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group D	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89465826.	NM_000400.4(ERCC2):c.2190+11C>T GRCh37: Chr19:45855456 GRCh38: Chr19:45352198	ERCC2		not provided, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 89379627.	NM_000400.4(ERCC2):c.348T>C (p.Cys116=) GRCh37: Chr19:45871900 GRCh38: Chr19:45368642	ERCC2		not provided, Inborn genetic diseases, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 89379528.	NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser) GRCh37: Chr19:45868163 GRCh38: Chr19:45364905	ERCC2	N152S, N176S	Xeroderma pigmentosum, group D, Inborn genetic diseases	Uncertain significance (Apr 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89376629.	NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) GRCh37: Chr19:45858047 GRCh38: Chr19:45354789	ERCC2	V536M	Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D, Trichothiodystrophy 1, photosensitive, not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group D	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89376530.	NM_000400.4(ERCC2):c.1725C>T (p.Ala575=) GRCh37: Chr19:45856533 GRCh38: Chr19:45353275	ERCC2		not provided, Inborn genetic diseases, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 89373931.	NM_000400.4(ERCC2):c.2247G>A (p.Thr749=) GRCh37: Chr19:45854923 GRCh38: Chr19:45351665	ERCC2		not provided, Xeroderma pigmentosum, group D, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 30, 2022)	criteria provided, conflicting interpretations
Select item 89373832.	NM_000400.4(ERCC2):c.2278C>T (p.Leu760Phe) GRCh37: Chr19:45854892 GRCh38: Chr19:45351634	ERCC2	L760F	Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89373733.	NM_000400.4(ERCC2):c.*68G>A GRCh37: Chr19:45854819 GRCh38: Chr19:45351561	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89349834.	NM_000400.4(ERCC2):c.607A>G (p.Asn203Asp) GRCh37: Chr19:45867793 GRCh38: Chr19:45364535	ERCC2	N179D, N203D	Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89349735.	NM_000400.4(ERCC2):c.739A>G (p.Met247Val) GRCh37: Chr19:45867569 GRCh38: Chr19:45364311	ERCC2	M247V, M223V	Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89346436.	NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys) GRCh37: Chr19:45856398 GRCh38: Chr19:45353140	ERCC2	R592C	not specified, Xeroderma pigmentosum, group D	Uncertain significance (May 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89346337.	NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) GRCh37: Chr19:45856371 GRCh38: Chr19:45353113	ERCC2	R601W	not provided, Xeroderma pigmentosum, group D, not specified	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 89346238.	NM_000400.4(ERCC2):c.1815C>T (p.Ser605=) GRCh37: Chr19:45856357 GRCh38: Chr19:45353099	ERCC2		not provided, Xeroderma pigmentosum, group D, Xeroderma pigmentosum, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Sep 25, 2022)	criteria provided, conflicting interpretations
Select item 89346139.	NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) GRCh37: Chr19:45856074 GRCh38: Chr19:45352816	ERCC2	V611A	Xeroderma pigmentosum, group D, not provided, Trichothiodystrophy 1, photosensitive	Uncertain significance (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89343440.	NM_000400.4(ERCC2):c.*70C>T GRCh37: Chr19:45854817 GRCh38: Chr19:45351559	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89343341.	NM_000400.4(ERCC2):c.*78C>A GRCh37: Chr19:45854809 GRCh38: Chr19:45351551	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89343242.	NM_177417.3(KLC3):c.*135C>T GRCh37: Chr19:45854750 GRCh38: Chr19:45351492	ERCC2, KLC3		Xeroderma pigmentosum, group D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89343143.	NM_177417.3(KLC3):c.*110C>A GRCh37: Chr19:45854725 GRCh38: Chr19:45351467	ERCC2, KLC3		Xeroderma pigmentosum, group D	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89343044.	NM_177417.3(KLC3):c.*105G>A GRCh37: Chr19:45854720 GRCh38: Chr19:45351462	ERCC2, KLC3		Xeroderma pigmentosum, group D	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89270145.	NM_000400.4(ERCC2):c.902C>T (p.Thr301Met) GRCh37: Chr19:45867291 GRCh38: Chr19:45364033	ERCC2	T277M, T301M	Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89270046.	NM_000400.4(ERCC2):c.930G>C (p.Leu310=) GRCh37: Chr19:45867263 GRCh38: Chr19:45364005	ERCC2		Inborn genetic diseases, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Mar 14, 2022)	criteria provided, conflicting interpretations
Select item 89265647.	NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile) GRCh37: Chr19:45856039 GRCh38: Chr19:45352781	ERCC2	V623I	Xeroderma pigmentosum, group D, not provided, Xeroderma pigmentosum	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89265548.	NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys) GRCh37: Chr19:45856015 GRCh38: Chr19:45352757	ERCC2	R631C	Xeroderma pigmentosum, group D, not provided	Uncertain significance (Aug 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89262949.	NM_177417.3(KLC3):c.*91C>A GRCh37: Chr19:45854706 GRCh38: Chr19:45351448	ERCC2, KLC3		Xeroderma pigmentosum, group D	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89262850.	NM_177417.3(KLC3):c.*56C>T GRCh37: Chr19:45854671 GRCh38: Chr19:45351413	KLC3, ERCC2		Xeroderma pigmentosum, group D	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89262751.	NM_177417.3(KLC3):c.*48G>A GRCh37: Chr19:45854663 GRCh38: Chr19:45351405	ERCC2, KLC3		Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 80479352.	NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn) GRCh37: Chr19:45873490 GRCh38: Chr19:45370232	ERCC2	K2N	Xeroderma pigmentosum, group D, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80356853.	NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) GRCh37: Chr19:45856061 GRCh38: Chr19:45352803	ERCC2		Xeroderma pigmentosum, group D, Inborn genetic diseases, not provided	Likely benign (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 79784254.	NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) GRCh37: Chr19:45860792 GRCh38: Chr19:45357534	ERCC2		Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D, Trichothiodystrophy 1, photosensitive, Inborn genetic diseases, not provided	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79518255.	NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) GRCh37: Chr19:45860581 GRCh38: Chr19:45357323	ERCC2	V476I	Xeroderma pigmentosum, not provided, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 78562756.	NM_000400.4(ERCC2):c.2191-4G>A GRCh37: Chr19:45854983 GRCh38: Chr19:45351725	ERCC2		not provided, Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 78384457.	NM_000400.4(ERCC2):c.1832-6C>T GRCh37: Chr19:45856080 GRCh38: Chr19:45352822	ERCC2		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group D	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76118358.	NM_000400.4(ERCC2):c.387C>T (p.Asp129=) GRCh37: Chr19:45868390 GRCh38: Chr19:45365132	ERCC2		Inborn genetic diseases, not provided, Xeroderma pigmentosum, group D	Benign/Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75409759.	NM_000400.4(ERCC2):c.156G>A (p.Leu52=) GRCh37: Chr19:45872355 GRCh38: Chr19:45369097	ERCC2		Xeroderma pigmentosum, Inborn genetic diseases, not provided, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Aug 24, 2022)	criteria provided, conflicting interpretations
Select item 75039160.	NM_000400.4(ERCC2):c.552G>C (p.Gly184=) GRCh37: Chr19:45868138 GRCh38: Chr19:45364880	ERCC2		Inborn genetic diseases, not provided, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 73829761.	NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) GRCh37: Chr19:45856383 GRCh38: Chr19:45353125	ERCC2		Xeroderma pigmentosum, not provided, Xeroderma pigmentosum, group D, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 71286362.	NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) GRCh37: Chr19:45858021 GRCh38: Chr19:45354763	ERCC2		not provided, Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum, group D, Inborn genetic diseases, Xeroderma pigmentosum	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70900363.	NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) GRCh37: Chr19:45856040 GRCh38: Chr19:45352782	ERCC2		Inborn genetic diseases, not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 70883064.	NM_000400.4(ERCC2):c.1377+8C>T GRCh37: Chr19:45860724 GRCh38: Chr19:45357466	ERCC2		not provided, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 69554365.	NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) GRCh37: Chr19:45858069 GRCh38: Chr19:45354811	ERCC2		Inborn genetic diseases, not provided, Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D, Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63231566.	NM_001983.4(ERCC1):c.122_123dup (p.Ser42fs) GRCh37: Chr19:45924633-45924634 GRCh38: Chr19:45421375-45421376	ERCC1	S42fs	Xeroderma pigmentosum, group D	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 63231467.	NM_001983.4(ERCC1):c.422del (p.Leu141fs) GRCh37: Chr19:45923585 GRCh38: Chr19:45420327	ERCC1	L141fs	Xeroderma pigmentosum, group D	Uncertain significance (Sep 6, 2017)	criteria provided, single submitter
Select item 63181568.	NM_000400.4(ERCC2):c.452_461del (p.Ser151fs) GRCh37: Chr19:45868316-45868325 GRCh38: Chr19:45365058-45365067	ERCC2	S127fs, S151fs	Xeroderma pigmentosum, group D	Uncertain significance (Jun 26, 2017)	criteria provided, single submitter
Select item 63181469.	NM_000400.4(ERCC2):c.816-2A>G GRCh37: Chr19:45867379 GRCh38: Chr19:45364121	ERCC2		Xeroderma pigmentosum, group D, not provided	Pathogenic/Likely pathogenic (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 62744270.	NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter) GRCh37: Chr19:45872390 GRCh38: Chr19:45369132	ERCC2	E41, E17	Xeroderma pigmentosum, group D	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 62744171.	NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter) GRCh37: Chr19:45871950 GRCh38: Chr19:45368692	ERCC2	E100, E76	Xeroderma pigmentosum, group D	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 62744072.	NM_000400.4(ERCC2):c.184-1G>T GRCh37: Chr19:45872251 GRCh38: Chr19:45368993	ERCC2		Xeroderma pigmentosum, group D	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 54684673.	NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) GRCh37: Chr19:45867799 GRCh38: Chr19:45364541	ERCC2	H201Y, H177Y	not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 40222674.	NM_000400.4(ERCC2):c.594+2_594+5del GRCh37: Chr19:45868091-45868094 GRCh38: Chr19:45364833-45364836	ERCC2		Xeroderma pigmentosum, group D, not provided, Xeroderma pigmentosum, Trichothiodystrophy 1, photosensitive	Pathogenic/Likely pathogenic (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32953275.	NM_000400.4(ERCC2):c.5+6A>C GRCh37: Chr19:45873788 GRCh38: Chr19:45370530	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32953076.	NM_000400.4(ERCC2):c.147A>G (p.Thr49=) GRCh37: Chr19:45872364 GRCh38: Chr19:45369106	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32952977.	NM_000400.4(ERCC2):c.183+2T>A GRCh37: Chr19:45872326 GRCh38: Chr19:45369068	ERCC2		Xeroderma pigmentosum, group D, not provided	Conflicting interpretations of pathogenicity (Aug 9, 2023)	criteria provided, conflicting interpretations
Select item 32952878.	NM_000400.4(ERCC2):c.308C>T (p.Pro103Leu) GRCh37: Chr19:45871940 GRCh38: Chr19:45368682	ERCC2	P103L, P79L	not provided, Xeroderma pigmentosum, group D	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32952779.	NM_000400.4(ERCC2):c.572C>T (p.Pro191Leu) GRCh37: Chr19:45868118 GRCh38: Chr19:45364860	ERCC2	P191L, P167L	Xeroderma pigmentosum, group D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32952680.	NM_000400.4(ERCC2):c.691G>A (p.Val231Met) GRCh37: Chr19:45867709 GRCh38: Chr19:45364451	ERCC2	V231M, V207M	not provided, Xeroderma pigmentosum, group D	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32952581.	NM_000400.4(ERCC2):c.718+6G>T GRCh37: Chr19:45867676 GRCh38: Chr19:45364418	ERCC2		not provided, Xeroderma pigmentosum, group D	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32952482.	NM_000400.4(ERCC2):c.740T>C (p.Met247Thr) GRCh37: Chr19:45867568 GRCh38: Chr19:45364310	ERCC2	M247T, M223T	not provided, Xeroderma pigmentosum, group D	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32952383.	NM_000400.4(ERCC2):c.749A>C (p.Asn250Thr) GRCh37: Chr19:45867559 GRCh38: Chr19:45364301	ERCC2	N250T, N226T	Inborn genetic diseases, not provided, Xeroderma pigmentosum, group D	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32952184.	NM_000400.4(ERCC2):c.902C>A (p.Thr301Lys) GRCh37: Chr19:45867291 GRCh38: Chr19:45364033	ERCC2	T301K, T277K	Xeroderma pigmentosum, group D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32952085.	NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) GRCh37: Chr19:45867247 GRCh38: Chr19:45363989	ERCC2	Q316E, Q292E	not provided, Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum, group D, Trichothiodystrophy 1, photosensitive, Xeroderma pigmentosum, group D	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32951986.	NM_000400.4(ERCC2):c.949+9C>T GRCh37: Chr19:45867235 GRCh38: Chr19:45363977	ERCC2		not provided, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 32951887.	NM_000400.4(ERCC2):c.950-13C>A GRCh37: Chr19:45867182 GRCh38: Chr19:45363924	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32951788.	NM_000400.4(ERCC2):c.988C>T (p.Leu330=) GRCh37: Chr19:45867131 GRCh38: Chr19:45363873	ERCC2		not provided, Xeroderma pigmentosum, group D, Xeroderma pigmentosum, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 8, 2022)	criteria provided, conflicting interpretations
Select item 32951689.	NM_000400.4(ERCC2):c.1118+4C>G GRCh37: Chr19:45866997 GRCh38: Chr19:45363739	ERCC2		not provided, Xeroderma pigmentosum, group D	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32951590.	NM_000400.4(ERCC2):c.1237+5G>A GRCh37: Chr19:45864777 GRCh38: Chr19:45361519	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32951491.	NM_000400.4(ERCC2):c.1276C>T (p.Pro426Ser) GRCh37: Chr19:45860919 GRCh38: Chr19:45357661	ERCC2	P426S	Xeroderma pigmentosum, group D, Inborn genetic diseases	Uncertain significance (Oct 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32951392.	NM_000400.4(ERCC2):c.1363A>G (p.Ile455Val) GRCh37: Chr19:45860746 GRCh38: Chr19:45357488	ERCC2	I455V	not provided, Xeroderma pigmentosum, group D, Inborn genetic diseases	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32951293.	NM_000400.4(ERCC2):c.1404C>T (p.Pro468=) GRCh37: Chr19:45860603 GRCh38: Chr19:45357345	ERCC2		Inborn genetic diseases, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Nov 20, 2022)	criteria provided, conflicting interpretations
Select item 32951094.	NM_000400.4(ERCC2):c.1644C>T (p.Thr548=) GRCh37: Chr19:45858009 GRCh38: Chr19:45354751	ERCC2		not provided, Xeroderma pigmentosum, group D, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 22, 2022)	criteria provided, conflicting interpretations
Select item 32950995.	NM_000400.4(ERCC2):c.1649C>T (p.Ala550Val) GRCh37: Chr19:45858004 GRCh38: Chr19:45354746	ERCC2	A550V	Xeroderma pigmentosum, group D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32950896.	NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) GRCh37: Chr19:45856059 GRCh38: Chr19:45352801	ERCC2	R616P	Xeroderma pigmentosum, Inborn genetic diseases, not provided, Xeroderma pigmentosum, group D, Xeroderma pigmentosum, group D, Trichothiodystrophy 1, photosensitive, Cerebrooculofacioskeletal syndrome 2	Pathogenic (Jul 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32950797.	NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) GRCh37: Chr19:45855905 GRCh38: Chr19:45352647	ERCC2		Xeroderma pigmentosum, group D, not provided, Xeroderma pigmentosum, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 32950698.	NM_000400.4(ERCC2):c.1962C>T (p.Phe654=) GRCh37: Chr19:45855848 GRCh38: Chr19:45352590	ERCC2		not provided, Xeroderma pigmentosum, Inborn genetic diseases, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 32950599.	NM_000400.4(ERCC2):c.2094G>A (p.Gln698=) GRCh37: Chr19:45855563 GRCh38: Chr19:45352305	ERCC2		Xeroderma pigmentosum, group D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 329504100.	NM_000400.4(ERCC2):c.2127C>T (p.Thr709=) GRCh37: Chr19:45855530 GRCh38: Chr19:45352272	ERCC2		not provided, Inborn genetic diseases, Xeroderma pigmentosum, group D	Conflicting interpretations of pathogenicity (Jul 28, 2022)	criteria provided, conflicting interpretations

<< First< Prev

Page of 2