ClinVar for MedGen (Select 21943) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25816651.	NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys) GRCh37: Chr3:14199629 GRCh38: Chr3:14158129	XPC	Y392C, Y579C, Y585C	Xeroderma pigmentosum	Likely pathogenic (Aug 11, 2023)	criteria provided, single submitter
Select item 25734042.	NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu) GRCh37: Chr19:45856370 GRCh38: Chr19:45353112	ERCC2	R601L	Xeroderma pigmentosum	Likely pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 25061923.	NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter) GRCh37: Chr19:45871986 GRCh38: Chr19:45368728	ERCC2	R64, R88	Xeroderma pigmentosum	Pathogenic (May 25, 2023)	criteria provided, single submitter
Select item 25011634.	NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter) GRCh37: Chr16:14015983 GRCh38: Chr16:13922126	ERCC4	Y101*	Xeroderma pigmentosum	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 24458395.	NM_005236.3(ERCC4):c.1214-1G>A GRCh37: Chr16:14029002 GRCh38: Chr16:13935145	ERCC4		Xeroderma pigmentosum	Likely pathogenic (Feb 14, 2023)	criteria provided, single submitter
Select item 24291486.	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 18784227.	NC_000003.11:g.14187530_(14190449_14193834)del	XPC		Xeroderma pigmentosum	Likely pathogenic (Nov 9, 2022)	criteria provided, single submitter
Select item 18782628.	NM_000123.4(ERCC5):c.2890del (p.Arg964fs) GRCh37: Chr13:103525619 GRCh38: Chr13:102873269	BIVM-ERCC5, ERCC5	R964fs, R1418fs	Xeroderma pigmentosum	Likely pathogenic (Dec 9, 2022)	criteria provided, single submitter
Select item 18782349.	NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del GRCh37: Chr6:43550879-43568724	POLH		Xeroderma pigmentosum	Likely pathogenic (Dec 7, 2022)	criteria provided, single submitter
Select item 180574410.	NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter) GRCh37: Chr2:128044321 GRCh38: Chr2:127286745	ERCC3	E370, E434	Xeroderma pigmentosum, Xeroderma pigmentosum group B	Pathogenic (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 180559211.	NM_000380.4(XPA):c.759dup (p.Asp254fs) GRCh37: Chr9:100437783-100437784 GRCh38: Chr9:97675501-97675502	XPA	D212fs, D254fs	not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group A	Pathogenic/Likely pathogenic (Jan 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 170524812.	NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter) GRCh37: Chr19:45872238-45872239 GRCh38: Chr19:45368980-45368981	ERCC2	E42, E66	Xeroderma pigmentosum	Likely pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 170517813.	NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer) GRCh37: Chr9:100437768-100437772 GRCh38: Chr9:97675486-97675490	XPA		Xeroderma pigmentosum	Likely pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 170508214.	NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs) GRCh37: Chr19:45855509-45855516 GRCh38: Chr19:45352251-45352258	ERCC2	V714fs	Xeroderma pigmentosum	Likely pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 169628215.	NM_006502.3(POLH):c.1078dup (p.Asp360fs) GRCh37: Chr6:43578293-43578294 GRCh38: Chr6:43610556-43610557	POLH, POLR1C	D236fs, D360fs	Xeroderma pigmentosum	Pathogenic (May 11, 2022)	criteria provided, single submitter
Select item 169612616.	NM_000380.4(XPA):c.673+1G>A GRCh37: Chr9:100447204 GRCh38: Chr9:97684922	XPA		Xeroderma pigmentosum	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 169606417.	NM_000123.4(ERCC5):c.1975del (p.Ser659fs) GRCh37: Chr13:103518035 GRCh38: Chr13:102865685	BIVM-ERCC5, ERCC5	S1113fs, S659fs	Xeroderma pigmentosum	Pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 169293618.	NM_006502.3(POLH):c.884+20dup GRCh37: Chr6:43571760-43571761 GRCh38: Chr6:43604023-43604024	POLH, POLR1C		not provided, Xeroderma pigmentosum	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169293519.	NM_006502.3(POLH):c.764+2dup GRCh37: Chr6:43568829-43568830 GRCh38: Chr6:43601092-43601093	POLH, POLR1C		Xeroderma pigmentosum	Uncertain significance (Jun 5, 2021)	criteria provided, single submitter
Select item 169293420.	NM_006502.3(POLH):c.723G>A (p.Gly241=) GRCh37: Chr6:43568787 GRCh38: Chr6:43601050	POLH, POLR1C		Xeroderma pigmentosum	Likely benign (Aug 10, 2021)	criteria provided, single submitter
Select item 169293321.	NM_006502.3(POLH):c.467C>T (p.Thr156Met) GRCh37: Chr6:43555203 GRCh38: Chr6:43587466	POLH, POLR1C	T156M	Inborn genetic diseases, Xeroderma pigmentosum	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 169293222.	NM_006502.3(POLH):c.424T>C (p.Leu142=) GRCh37: Chr6:43555160 GRCh38: Chr6:43587423	POLH, POLR1C		Xeroderma pigmentosum	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 169293123.	NM_006502.3(POLH):c.413C>T (p.Ser138Leu) GRCh37: Chr6:43555149 GRCh38: Chr6:43587412	POLH, POLR1C	S138L	not provided, Xeroderma pigmentosum	Uncertain significance (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169293024.	NM_006502.3(POLH):c.2119T>G (p.Phe707Val) GRCh37: Chr6:43582271 GRCh38: Chr6:43614534	POLH, POLR1C	F583V, F707V	Xeroderma pigmentosum	Uncertain significance (Feb 16, 2022)	criteria provided, single submitter
Select item 169292925.	NM_006502.3(POLH):c.210G>T (p.Lys70Asn) GRCh37: Chr6:43550816 GRCh38: Chr6:43583079	POLH, POLR1C	K70N, S19I	Xeroderma pigmentosum	Uncertain significance (Apr 30, 2021)	criteria provided, single submitter
Select item 169292826.	NM_006502.3(POLH):c.1977G>A (p.Leu659=) GRCh37: Chr6:43582129 GRCh38: Chr6:43614392	POLH, POLR1C		Xeroderma pigmentosum	Likely benign (Feb 24, 2021)	criteria provided, single submitter
Select item 169292727.	NM_006502.3(POLH):c.1959T>C (p.Tyr653=) GRCh37: Chr6:43582111 GRCh38: Chr6:43614374	POLH, POLR1C		Xeroderma pigmentosum	Likely benign (Nov 2, 2020)	criteria provided, single submitter
Select item 169292628.	NM_006502.3(POLH):c.1833A>G (p.Lys611=) GRCh37: Chr6:43581985 GRCh38: Chr6:43614248	POLH, POLR1C		Xeroderma pigmentosum	Likely benign (Nov 16, 2021)	criteria provided, single submitter
Select item 169292529.	NM_006502.3(POLH):c.1656C>G (p.Pro552=) GRCh37: Chr6:43581808 GRCh38: Chr6:43614071	POLH, POLR1C		Xeroderma pigmentosum, not provided	Likely benign (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169292430.	NM_006502.3(POLH):c.1635T>G (p.Asn545Lys) GRCh37: Chr6:43581787 GRCh38: Chr6:43614050	POLH, POLR1C	N421K, N545K	Xeroderma pigmentosum	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 169292331.	NM_006502.3(POLH):c.1491G>A (p.Ser497=) GRCh37: Chr6:43581643 GRCh38: Chr6:43613906	POLH, POLR1C		Xeroderma pigmentosum	Likely benign (Oct 15, 2021)	criteria provided, single submitter
Select item 169292232.	NM_006502.3(POLH):c.1418_1423del (p.Thr473_Lys474del) GRCh37: Chr6:43581569-43581574 GRCh38: Chr6:43613832-43613837	POLH, POLR1C		Xeroderma pigmentosum	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 169292133.	NM_006502.3(POLH):c.134G>A (p.Gly45Asp) GRCh37: Chr6:43550190 GRCh38: Chr6:43582453	POLH, POLR1C	G45D	Xeroderma pigmentosum	Uncertain significance (Sep 26, 2021)	criteria provided, single submitter
Select item 169292034.	NM_006502.3(POLH):c.1181A>G (p.Lys394Arg) GRCh37: Chr6:43578397 GRCh38: Chr6:43610660	POLH, POLR1C	K270R, K394R	Xeroderma pigmentosum	Uncertain significance (Sep 14, 2021)	criteria provided, single submitter
Select item 169291935.	NM_006502.3(POLH):c.112C>G (p.Gln38Glu) GRCh37: Chr6:43550168 GRCh38: Chr6:43582431	POLH, POLR1C	Q38E	Xeroderma pigmentosum	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 169291836.	NM_006502.3(POLH):c.1000C>G (p.Arg334Gly) GRCh37: Chr6:43572467 GRCh38: Chr6:43604730	POLH, POLR1C	R210G, R334G	not provided, Xeroderma pigmentosum	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 169288737.	NM_005236.3(ERCC4):c.98T>C (p.Val33Ala) GRCh37: Chr16:14014120 GRCh38: Chr16:13920263	ERCC4, LOC130058543	V33A	Xeroderma pigmentosum	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 169288638.	NM_005236.3(ERCC4):c.979C>T (p.Leu327=) GRCh37: Chr16:14026019 GRCh38: Chr16:13932162	ERCC4		Xeroderma pigmentosum	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 169288539.	NM_005236.3(ERCC4):c.975T>G (p.Gly325=) GRCh37: Chr16:14026015 GRCh38: Chr16:13932158	ERCC4		Xeroderma pigmentosum	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 169288440.	NM_005236.3(ERCC4):c.2392C>G (p.Leu798Val) GRCh37: Chr16:14041845 GRCh38: Chr16:13947988	ERCC4	L798V	Xeroderma pigmentosum	Uncertain significance (Jun 28, 2021)	criteria provided, single submitter
Select item 169288341.	NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) GRCh37: Chr16:14041653 GRCh38: Chr16:13947796	ERCC4	G734S	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169288242.	NM_005236.3(ERCC4):c.2078G>T (p.Ser693Ile) GRCh37: Chr16:14041531 GRCh38: Chr16:13947674	ERCC4	S693I	Xeroderma pigmentosum	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 169288043.	NM_005236.3(ERCC4):c.2017+1G>C GRCh37: Chr16:14038693 GRCh38: Chr16:13944836	ERCC4		Xeroderma pigmentosum	Likely pathogenic (May 27, 2021)	criteria provided, single submitter
Select item 169287944.	NM_005236.3(ERCC4):c.1905-6C>G GRCh37: Chr16:14038574 GRCh38: Chr16:13944717	ERCC4		Xeroderma pigmentosum	Uncertain significance (Apr 7, 2021)	criteria provided, single submitter
Select item 169287845.	NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) GRCh37: Chr16:14031642 GRCh38: Chr16:13937785	ERCC4	G611R	not specified, Xeroderma pigmentosum	Uncertain significance (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169287746.	NM_005236.3(ERCC4):c.1788G>T (p.Ala596=) GRCh37: Chr16:14029577 GRCh38: Chr16:13935720	ERCC4		Xeroderma pigmentosum	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 169287647.	NM_005236.3(ERCC4):c.1285G>A (p.Glu429Lys) GRCh37: Chr16:14029074 GRCh38: Chr16:13935217	ERCC4	E429K	Xeroderma pigmentosum	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 169287548.	NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg) GRCh37: Chr16:14028153 GRCh38: Chr16:13934296	ERCC4	G403R	Xeroderma pigmentosum	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 169283249.	NM_004628.5(XPC):c.91G>A (p.Glu31Lys) GRCh37: Chr3:14219978 GRCh38: Chr3:14178478	LOC129936244, XPC	E31K	Xeroderma pigmentosum	Uncertain significance (Jun 12, 2021)	criteria provided, single submitter
Select item 169283150.	NM_004628.5(XPC):c.8G>A (p.Arg3Gln) GRCh37: Chr3:14220061 GRCh38: Chr3:14178561	LOC129936244, XPC	R3Q	Xeroderma pigmentosum	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 169283051.	NM_004628.5(XPC):c.507G>T (p.Thr169=) GRCh37: Chr3:14209786 GRCh38: Chr3:14168286	XPC		Xeroderma pigmentosum	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 169282952.	NM_004628.5(XPC):c.352A>G (p.Met118Val) GRCh37: Chr3:14211998 GRCh38: Chr3:14170498	XPC	M112V, M118V	Xeroderma pigmentosum, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 24, 2023)	criteria provided, conflicting interpretations
Select item 169282853.	NM_004628.5(XPC):c.2655T>A (p.Asp885Glu) GRCh37: Chr3:14187609 GRCh38: Chr3:14146109	XPC	D692E, D803E, D879E, D883E, D885E	Xeroderma pigmentosum	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 169282754.	NM_004628.5(XPC):c.2633C>T (p.Ala878Val) GRCh37: Chr3:14187631 GRCh38: Chr3:14146131	XPC	A685V, A796V, A872V, A876V, A878V	Xeroderma pigmentosum	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 169282655.	NM_004628.5(XPC):c.2605A>G (p.Ser869Gly) GRCh37: Chr3:14187659 GRCh38: Chr3:14146159	XPC	S676G, S787G, S863G, S867G, S869G	Xeroderma pigmentosum	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 169282556.	NM_004628.5(XPC):c.259G>C (p.Val87Leu) GRCh37: Chr3:14214407 GRCh38: Chr3:14172907	XPC	V81L, V87L	Xeroderma pigmentosum, group C, Inborn genetic diseases, Xeroderma pigmentosum	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169282457.	NM_004628.5(XPC):c.2572A>G (p.Arg858Gly) GRCh37: Chr3:14188822 GRCh38: Chr3:14147322	XPC	R665G, R776G, R852G, R856G, R858G	Xeroderma pigmentosum	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 169282358.	NM_004628.5(XPC):c.2514+9A>G GRCh37: Chr3:14189399 GRCh38: Chr3:14147899	XPC		Xeroderma pigmentosum	Uncertain significance (Jul 26, 2021)	criteria provided, single submitter
Select item 169282259.	NM_004628.5(XPC):c.2153G>A (p.Arg718Gln) GRCh37: Chr3:14190411 GRCh38: Chr3:14148911	XPC	R525Q, R636Q, R712Q, R716Q, R718Q	Xeroderma pigmentosum	Uncertain significance (Aug 17, 2021)	criteria provided, single submitter
Select item 169282160.	NM_004628.5(XPC):c.205G>C (p.Gly69Arg) GRCh37: Chr3:14214461 GRCh38: Chr3:14172961	XPC	G63R, G69R	Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169282061.	NM_004628.5(XPC):c.1803G>A (p.Glu601=) GRCh37: Chr3:14199580 GRCh38: Chr3:14158080	XPC		Xeroderma pigmentosum	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 169281962.	NM_004628.5(XPC):c.160G>C (p.Gly54Arg) GRCh37: Chr3:14214506 GRCh38: Chr3:14173006	XPC	G48R, G54R	Xeroderma pigmentosum	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 169281863.	NM_004628.5(XPC):c.15C>T (p.Arg5=) GRCh37: Chr3:14220054 GRCh38: Chr3:14178554	LOC129936244, XPC		Xeroderma pigmentosum	Likely benign (Oct 26, 2020)	criteria provided, single submitter
Select item 169281764.	NM_004628.5(XPC):c.10A>G (p.Lys4Glu) GRCh37: Chr3:14220059 GRCh38: Chr3:14178559	LOC129936244, XPC	K4E	Xeroderma pigmentosum	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 169281565.	NM_004628.5(XPC):c.1009G>A (p.Glu337Lys) GRCh37: Chr3:14200374 GRCh38: Chr3:14158874	XPC	E144K, E331K, E337K	Xeroderma pigmentosum	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter
Select item 169243566.	NM_000400.4(ERCC2):c.895C>T (p.Arg299Trp) GRCh37: Chr19:45867298 GRCh38: Chr19:45364040	ERCC2	R275W, R299W	Xeroderma pigmentosum	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 169243467.	NM_000400.4(ERCC2):c.873G>A (p.Gly291=) GRCh37: Chr19:45867320 GRCh38: Chr19:45364062	ERCC2		Inborn genetic diseases, Xeroderma pigmentosum	Likely benign (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169243368.	NM_000400.4(ERCC2):c.2064C>G (p.Asp688Glu) GRCh37: Chr19:45855593 GRCh38: Chr19:45352335	ERCC2	D688E	Xeroderma pigmentosum, Inborn genetic diseases	Uncertain significance (Sep 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 169243269.	NM_000400.4(ERCC2):c.2017G>A (p.Asp673Asn) GRCh37: Chr19:45855793 GRCh38: Chr19:45352535	ERCC2	D673N	Inborn genetic diseases, Xeroderma pigmentosum, not provided	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169243170.	NM_000400.4(ERCC2):c.1894A>C (p.Ile632Leu) GRCh37: Chr19:45856012 GRCh38: Chr19:45352754	ERCC2	I632L	Inborn genetic diseases, Xeroderma pigmentosum	Uncertain significance (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169243071.	NM_000400.4(ERCC2):c.183+4A>G GRCh37: Chr19:45872324 GRCh38: Chr19:45369066	ERCC2		Xeroderma pigmentosum	Uncertain significance (Aug 3, 2021)	criteria provided, single submitter
Select item 169242972.	NM_000400.4(ERCC2):c.1666-4C>T GRCh37: Chr19:45856596 GRCh38: Chr19:45353338	ERCC2		Xeroderma pigmentosum, not provided	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 169242873.	NM_000400.4(ERCC2):c.1518C>A (p.Ser506=) GRCh37: Chr19:45858948 GRCh38: Chr19:45355690	ERCC2		Inborn genetic diseases, not provided, Xeroderma pigmentosum	Likely benign (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169242774.	NM_000400.4(ERCC2):c.1479+3G>A GRCh37: Chr19:45860525 GRCh38: Chr19:45357267	ERCC2		Xeroderma pigmentosum	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 169242675.	NM_000400.4(ERCC2):c.1343T>C (p.Phe448Ser) GRCh37: Chr19:45860766 GRCh38: Chr19:45357508	ERCC2	F448S	Xeroderma pigmentosum	Uncertain significance (Sep 18, 2021)	criteria provided, single submitter
Select item 169242476.	NM_000400.4(ERCC2):c.1237+5G>C GRCh37: Chr19:45864777 GRCh38: Chr19:45361519	ERCC2		Xeroderma pigmentosum	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 169242277.	NM_000380.4(XPA):c.89G>A (p.Arg30Gln) GRCh37: Chr9:100459486 GRCh38: Chr9:97697204	XPA	R30Q	Xeroderma pigmentosum	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 169242178.	NM_000380.4(XPA):c.773G>A (p.Arg258His) GRCh37: Chr9:100437770 GRCh38: Chr9:97675488	XPA	R216H, R258H	Xeroderma pigmentosum	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 169242079.	NM_000380.4(XPA):c.76G>C (p.Ala26Pro) GRCh37: Chr9:100459499 GRCh38: Chr9:97697217	XPA	A26P	Xeroderma pigmentosum	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 169241980.	NM_000380.4(XPA):c.739G>A (p.Gly247Arg) GRCh37: Chr9:100437804 GRCh38: Chr9:97675522	XPA	G205R, G247R	Xeroderma pigmentosum	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 169241881.	NM_000380.4(XPA):c.605A>C (p.Glu202Ala) GRCh37: Chr9:100447273 GRCh38: Chr9:97684991	XPA	E160A, E202A	Xeroderma pigmentosum	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 169241782.	NM_000380.4(XPA):c.599T>C (p.Leu200Ser) GRCh37: Chr9:100447279 GRCh38: Chr9:97684997	XPA	L158S, L200S	Xeroderma pigmentosum, Xeroderma pigmentosum group A	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169241683.	NM_000380.4(XPA):c.482C>T (p.Pro161Leu) GRCh37: Chr9:100449451 GRCh38: Chr9:97687169	XPA	P119L, P161L	Xeroderma pigmentosum	Uncertain significance (Sep 28, 2021)	criteria provided, single submitter
Select item 169241584.	NM_000380.4(XPA):c.472A>C (p.Arg158=) GRCh37: Chr9:100449461 GRCh38: Chr9:97687179	XPA		Xeroderma pigmentosum	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 169241485.	NM_000380.4(XPA):c.20C>T (p.Ala7Val) GRCh37: Chr9:100459555 GRCh38: Chr9:97697273	XPA	A7V	Xeroderma pigmentosum	Uncertain significance (Apr 6, 2021)	criteria provided, single submitter
Select item 169241386.	NM_000380.4(XPA):c.15C>T (p.Asp5=) GRCh37: Chr9:100459560 GRCh38: Chr9:97697278	XPA		Xeroderma pigmentosum	Likely benign (Jun 20, 2021)	criteria provided, single submitter
Select item 169217187.	NM_000122.2(ERCC3):c.882A>G (p.Glu294=) GRCh37: Chr2:128046381 GRCh38: Chr2:127288805	ERCC3		Xeroderma pigmentosum	Likely benign (Jan 26, 2021)	criteria provided, single submitter
Select item 169217088.	NM_000122.2(ERCC3):c.662C>T (p.Ser221Phe) GRCh37: Chr2:128047073 GRCh38: Chr2:127289497	ERCC3	S157F, S221F	Xeroderma pigmentosum	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 169216989.	NM_000122.2(ERCC3):c.637A>G (p.Thr213Ala) GRCh37: Chr2:128047285 GRCh38: Chr2:127289709	ERCC3	T149A, T213A	Xeroderma pigmentosum	Uncertain significance (Aug 17, 2021)	criteria provided, single submitter
Select item 169216890.	NM_000122.2(ERCC3):c.472-10G>A GRCh37: Chr2:128047859 GRCh38: Chr2:127290283	ERCC3		Xeroderma pigmentosum, not provided	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 169216791.	NM_000122.2(ERCC3):c.411C>G (p.Thr137=) GRCh37: Chr2:128050246 GRCh38: Chr2:127292670	ERCC3		Xeroderma pigmentosum	Likely benign (Feb 13, 2022)	criteria provided, single submitter
Select item 169216692.	NM_000122.2(ERCC3):c.386T>C (p.Val129Ala) GRCh37: Chr2:128050271 GRCh38: Chr2:127292695	ERCC3	V129A, V65A	Xeroderma pigmentosum	Uncertain significance (Sep 23, 2021)	criteria provided, single submitter
Select item 169216593.	NM_000122.2(ERCC3):c.235-1G>A GRCh37: Chr2:128050423 GRCh38: Chr2:127292847	ERCC3		Xeroderma pigmentosum	Likely pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 169216494.	NM_000122.2(ERCC3):c.2248A>G (p.Met750Val) GRCh37: Chr2:128015273 GRCh38: Chr2:127257697	ERCC3	M686V, M750V	Inborn genetic diseases, Xeroderma pigmentosum	Uncertain significance (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 169216395.	NM_000122.2(ERCC3):c.1947G>A (p.Gly649=) GRCh37: Chr2:128018921 GRCh38: Chr2:127261345	ERCC3		Xeroderma pigmentosum	Likely benign (Nov 12, 2021)	criteria provided, single submitter
Select item 169216296.	NM_000122.2(ERCC3):c.1904A>G (p.Gln635Arg) GRCh37: Chr2:128028953 GRCh38: Chr2:127271377	ERCC3	Q571R, Q635R	Xeroderma pigmentosum	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 169216197.	NM_000122.2(ERCC3):c.1635G>A (p.Gln545=) GRCh37: Chr2:128036844 GRCh38: Chr2:127279268	ERCC3		Xeroderma pigmentosum	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 169216098.	NM_000122.2(ERCC3):c.1510A>C (p.Lys504Gln) GRCh37: Chr2:128038040 GRCh38: Chr2:127280464	ERCC3	K440Q, K504Q	Xeroderma pigmentosum	Uncertain significance (Jul 20, 2021)	criteria provided, single submitter
Select item 169215999.	NM_000122.2(ERCC3):c.1497T>C (p.Asn499=) GRCh37: Chr2:128038053 GRCh38: Chr2:127280477	ERCC3		Xeroderma pigmentosum	Likely benign (May 31, 2021)	criteria provided, single submitter
Select item 1692158100.	NM_000122.2(ERCC3):c.1343-10G>C GRCh37: Chr2:128038217 GRCh38: Chr2:127280641	ERCC3		Xeroderma pigmentosum	Uncertain significance (Aug 3, 2021)	criteria provided, single submitter

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