ClinVar for MedGen (Select 21943) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366825	NC_000011.9:g.(47238024_47238408)_(47254511_47256123)del	DDB2	Deletion	Xeroderma pigmentosum	GPathogenic
Select item 3339731	NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)	ERCC2 (S541R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GLikely pathogenic
Select item 3338943	NM_005236.3(ERCC4):c.307C>T (p.Gln103Ter)	ERCC4 (Q103*)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum	GPathogenic
Select item 3241411	NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)	ERCC2 (R511Q)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2679646	NM_004628.5(XPC):c.621+1G>A	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C +1 more	GLikely pathogenic
Select item 2675051	NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)	ERCC2 (Y625fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2581665	NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)	XPC (Y392C +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C +1 more	GLikely pathogenic
Select item 2573404	NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)	ERCC2 (R601L)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +2 more	GPathogenic/Likely pathogenic
Select item 2506192	NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)	ERCC2 (R64* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 2501163	NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)	ERCC4 (Y101*)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum	GLikely pathogenic
Select item 2445839	NM_005236.3(ERCC4):c.1214-1G>A	ERCC4	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum	GLikely pathogenic
Select item 2429148	NM_000400.4(ERCC2):c.[1381C>G;2150C>G]	ERCC2 (L461V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GPathogenic
Select item 2138306	NM_000400.4(ERCC2):c.1805G>A (p.Gly602Asp)	ERCC2 (G602D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 1878422	NC_000003.11:g.14187530_(14190449_14193834)del	XPC	Deletion	Xeroderma pigmentosum	GLikely pathogenic
Select item 1878262	NM_000123.4(ERCC5):c.2890del (p.Arg964fs)	BIVM-ERCC5, ERCC5 (R964fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum	GLikely pathogenic
Select item 1878234	NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del	POLH	Deletion	Xeroderma pigmentosum	GLikely pathogenic
Select item 1805744	NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)	ERCC3 (E370* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1805592	NM_000380.4(XPA):c.759dup (p.Asp254fs)	XPA (D212fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1705248	NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)	ERCC2 (E42* +1 more)	Indel (nonsense)	Xeroderma pigmentosum +2 more	GPathogenic/Likely pathogenic
Select item 1705178	NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)	XPA	Deletion (nonsense +2 more)	Xeroderma pigmentosum	GLikely pathogenic
Select item 1705082	NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)	ERCC2 (V714fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1696282	NM_006502.3(POLH):c.1078dup (p.Asp360fs)	POLH (D236fs +1 more)	Duplication (frameshift variant)	Xeroderma pigmentosum +1 more	GPathogenic
Select item 1696126	NM_000380.4(XPA):c.673+1G>A	XPA	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum	GLikely pathogenic
Select item 1696064	NM_000123.4(ERCC5):c.1975del (p.Ser659fs)	BIVM-ERCC5, ERCC5 (S1113fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum	GPathogenic
Select item 1692936	NM_006502.3(POLH):c.884+20dup	POLH	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1692935	NM_006502.3(POLH):c.764+2dup	POLH	Duplication (splice donor variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692934	NM_006502.3(POLH):c.723G>A (p.Gly241=)	POLH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1692933	NM_006502.3(POLH):c.467C>T (p.Thr156Met)	POLH (T156M)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 1692932	NM_006502.3(POLH):c.424T>C (p.Leu142=)	POLH	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum	GLikely benign
Select item 1692931	NM_006502.3(POLH):c.413C>T (p.Ser138Leu)	POLH (S138L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1692930	NM_006502.3(POLH):c.2119T>G (p.Phe707Val)	POLH (F583V +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692929	NM_006502.3(POLH):c.210G>T (p.Lys70Asn)	POLH (K70N +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692928	NM_006502.3(POLH):c.1977G>A (p.Leu659=)	POLH	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 1692927	NM_006502.3(POLH):c.1959T>C (p.Tyr653=)	POLH	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 1692926	NM_006502.3(POLH):c.1833A>G (p.Lys611=)	POLH	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 1692925	NM_006502.3(POLH):c.1656C>G (p.Pro552=)	POLH	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 1692924	NM_006502.3(POLH):c.1635T>G (p.Asn545Lys)	POLH (N421K +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692923	NM_006502.3(POLH):c.1491G>A (p.Ser497=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1692922	NM_006502.3(POLH):c.1418_1423del (p.Thr473_Lys474del)	POLH	Deletion (inframe_deletion +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692921	NM_006502.3(POLH):c.134G>A (p.Gly45Asp)	POLH (G45D)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692920	NM_006502.3(POLH):c.1181A>G (p.Lys394Arg)	POLH (K270R +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692919	NM_006502.3(POLH):c.112C>G (p.Gln38Glu)	POLH (Q38E)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692918	NM_006502.3(POLH):c.1000C>G (p.Arg334Gly)	POLH (R210G +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 1692887	NM_005236.3(ERCC4):c.98T>C (p.Val33Ala)	ERCC4, LOC130058543 (V33A)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692886	NM_005236.3(ERCC4):c.979C>T (p.Leu327=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692885	NM_005236.3(ERCC4):c.975T>G (p.Gly325=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum	GLikely benign
Select item 1692884	NM_005236.3(ERCC4):c.2392C>G (p.Leu798Val)	ERCC4 (L798V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692883	NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser)	ERCC4 (G734S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +3 more	GUncertain significance
Select item 1692882	NM_005236.3(ERCC4):c.2078G>T (p.Ser693Ile)	ERCC4 (S693I)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692880	NM_005236.3(ERCC4):c.2017+1G>C	ERCC4	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum	GLikely pathogenic
Select item 1692879	NM_005236.3(ERCC4):c.1905-6C>G	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692878	NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg)	ERCC4 (G611R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1692877	NM_005236.3(ERCC4):c.1788G>T (p.Ala596=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum	GLikely benign
Select item 1692876	NM_005236.3(ERCC4):c.1285G>A (p.Glu429Lys)	ERCC4 (E429K)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692875	NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg)	ERCC4 (G403R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +3 more	GUncertain significance
Select item 1692832	NM_004628.5(XPC):c.91G>A (p.Glu31Lys)	LOC129936244, XPC (E31K)	Single nucleotide variant (5 prime UTR variant +3 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692831	NM_004628.5(XPC):c.8G>A (p.Arg3Gln)	LOC129936244, XPC (R3Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692830	NM_004628.5(XPC):c.507G>T (p.Thr169=)	XPC	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1692829	NM_004628.5(XPC):c.352A>G (p.Met118Val)	XPC (M112V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 1692828	NM_004628.5(XPC):c.2655T>A (p.Asp885Glu)	XPC (D692E +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692827	NM_004628.5(XPC):c.2633C>T (p.Ala878Val)	XPC (A685V +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692826	NM_004628.5(XPC):c.2605A>G (p.Ser869Gly)	XPC (S676G +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692825	NM_004628.5(XPC):c.259G>C (p.Val87Leu)	XPC (V81L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +2 more	GUncertain significance
Select item 1692824	NM_004628.5(XPC):c.2572A>G (p.Arg858Gly)	XPC (R665G +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 1692823	NM_004628.5(XPC):c.2514+9A>G	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692822	NM_004628.5(XPC):c.2153G>A (p.Arg718Gln)	XPC (R525Q +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692821	NM_004628.5(XPC):c.205G>C (p.Gly69Arg)	XPC (G63R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 1692820	NM_004628.5(XPC):c.1803G>A (p.Glu601=)	XPC	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692819	NM_004628.5(XPC):c.160G>C (p.Gly54Arg)	XPC (G48R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692818	NM_004628.5(XPC):c.15C>T (p.Arg5=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GLikely benign
Select item 1692817	NM_004628.5(XPC):c.10A>G (p.Lys4Glu)	LOC129936244, XPC (K4E)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692815	NM_004628.5(XPC):c.1009G>A (p.Glu337Lys)	XPC (E144K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692435	NM_000400.4(ERCC2):c.895C>T (p.Arg299Trp)	ERCC2 (R275W +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692434	NM_000400.4(ERCC2):c.873G>A (p.Gly291=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1692433	NM_000400.4(ERCC2):c.2064C>G (p.Asp688Glu)	ERCC2 (D688E)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 1692432	NM_000400.4(ERCC2):c.2017G>A (p.Asp673Asn)	ERCC2 (D673N)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 1692431	NM_000400.4(ERCC2):c.1894A>C (p.Ile632Leu)	ERCC2 (I632L)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 1692430	NM_000400.4(ERCC2):c.183+4A>G	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692429	NM_000400.4(ERCC2):c.1666-4C>T	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 1692428	NM_000400.4(ERCC2):c.1518C>A (p.Ser506=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1692427	NM_000400.4(ERCC2):c.1479+3G>A	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692426	NM_000400.4(ERCC2):c.1343T>C (p.Phe448Ser)	ERCC2 (F448S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692424	NM_000400.4(ERCC2):c.1237+5G>C	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692422	NM_000380.4(XPA):c.89G>A (p.Arg30Gln)	XPA (R30Q)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692421	NM_000380.4(XPA):c.773G>A (p.Arg258His)	XPA (R216H +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692420	NM_000380.4(XPA):c.76G>C (p.Ala26Pro)	XPA (A26P)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692419	NM_000380.4(XPA):c.739G>A (p.Gly247Arg)	XPA (G205R +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 1692418	NM_000380.4(XPA):c.605A>C (p.Glu202Ala)	XPA (E160A +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692417	NM_000380.4(XPA):c.599T>C (p.Leu200Ser)	XPA (L158S +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A +1 more	GUncertain significance
Select item 1692416	NM_000380.4(XPA):c.482C>T (p.Pro161Leu)	XPA (P119L +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692415	NM_000380.4(XPA):c.472A>C (p.Arg158=)	XPA	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692414	NM_000380.4(XPA):c.20C>T (p.Ala7Val)	XPA (A7V)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692413	NM_000380.4(XPA):c.15C>T (p.Asp5=)	XPA	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 1692171	NM_000122.2(ERCC3):c.882A>G (p.Glu294=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum	GLikely benign
Select item 1692170	NM_000122.2(ERCC3):c.662C>T (p.Ser221Phe)	ERCC3 (S157F +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692169	NM_000122.2(ERCC3):c.637A>G (p.Thr213Ala)	ERCC3 (T149A +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692168	NM_000122.2(ERCC3):c.472-10G>A	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 1692167	NM_000122.2(ERCC3):c.411C>G (p.Thr137=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum	GLikely benign
Select item 1692166	NM_000122.2(ERCC3):c.386T>C (p.Val129Ala)	ERCC3 (V129A +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 1692165	NM_000122.2(ERCC3):c.235-1G>A	ERCC3	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum	GLikely pathogenic

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