ClinVar for MedGen (Select 78643) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338266	NM_000122.2(ERCC3):c.2065-1G>C	ERCC3	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum group B	GLikely pathogenic
Select item 3255224	NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)	ERCC3 (Q190* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum group B	GPathogenic
Select item 3250468	NM_000122.2(ERCC3):c.2275_2283del (p.Met759_Tyr761del)	ERCC3	Deletion (inframe_deletion)	Xeroderma pigmentosum group B	GUncertain significance
Select item 3250466	NM_000122.2(ERCC3):c.1934G>A (p.Arg645Gln)	ERCC3 (R581Q +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B	GUncertain significance
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 1548549	NM_000122.2(ERCC3):c.1730+16T>G	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B +2 more	GBenign/Likely benign
Select item 1458593	NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)	ERCC3 (Q647* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1405507	NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter)	ERCC3 (R574* +1 more)	Single nucleotide variant (nonsense)	Trichothiodystrophy 2, photosensitive +2 more	GPathogenic/Likely pathogenic
Select item 1394743	NM_000122.2(ERCC3):c.1348A>G (p.Met450Val)	ERCC3 (M450V +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 2, photosensitive +3 more	GUncertain significance
Select item 1361081	NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys)	ERCC3 (E633K +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 2, photosensitive +2 more	GUncertain significance
Select item 1335950	NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)	ERCC3 (W310* +1 more)	Duplication (nonsense)	Trichothiodystrophy 2, photosensitive +3 more	GPathogenic/Likely pathogenic
Select item 1319556	NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)	ERCC3 (Q324* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1070632	NM_000122.2(ERCC3):c.1757del (p.Gln586fs)	ERCC3 (Q522fs +1 more)	Deletion (frameshift variant)	Trichothiodystrophy 2, photosensitive +3 more	GPathogenic/Likely pathogenic
Select item 995893	NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)	ERCC3 (R388* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum group B +1 more	GPathogenic/Likely pathogenic
Select item 894783	NM_000122.2(ERCC3):c.1182C>T (p.Ser394=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +1 more	GConflicting classifications of pathogenicity
Select item 894782	NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile)	ERCC3 (V471I +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B +1 more	GUncertain significance
Select item 893903	NM_000122.2(ERCC3):c.-31G>A	ERCC3	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 893902	NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg)	ERCC3 (K44R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 893901	NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp)	ERCC3 (E48D)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group B +3 more	GUncertain significance
Select item 893873	NM_000122.2(ERCC3):c.1911C>G (p.Ala637=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 893872	NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893871	NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser)	ERCC3 (A630S +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 893870	NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg)	ERCC3 (M632R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893613	NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly)	ERCC3 (E41G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893612	NM_000122.2(ERCC3):c.529G>A (p.Val177Ile)	ERCC3 (V113I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893584	NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp)	ERCC3 (R678W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 893583	NM_000122.2(ERCC3):c.*83C>T	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 892812	NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg)	ERCC3 (K359R +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B +1 more	GUncertain significance
Select item 892811	NM_000122.2(ERCC3):c.1110T>C (p.Ser370=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +1 more	GUncertain significance
Select item 892810	NM_000122.2(ERCC3):c.1152T>C (p.Ile384=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 892773	NM_000122.2(ERCC3):c.*138G>C	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 892772	NM_000122.2(ERCC3):c.*220G>C	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 870690	NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)	ERCC3 (E588fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 847501	NM_000122.2(ERCC3):c.32A>G (p.Lys11Arg)	ERCC3 (K11R)	Single nucleotide variant (missense variant +1 more)	Trichothiodystrophy 2, photosensitive +2 more	GUncertain significance
Select item 801749	NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)	ERCC3 (Q154* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 801748	NM_000122.2(ERCC3):c.1828-36C>T	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B	GBenign
Select item 801747	NM_000122.2(ERCC3):c.1828-35C>T	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B	GBenign
Select item 801746	NM_000122.2(ERCC3):c.1828-33C>T	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B	GBenign
Select item 801745	NM_000122.2(ERCC3):c.1828-32A>T	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B	GBenign
Select item 801744	NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter)	ERCC3 (R581* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum group B	GLikely pathogenic
Select item 783340	NM_000122.2(ERCC3):c.1335C>T (p.Thr445=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 758079	NM_000122.2(ERCC3):c.2218-6C>T	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B +2 more	GConflicting classifications of pathogenicity
Select item 710683	NM_000122.2(ERCC3):c.2226G>A (p.Arg742=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 695354	NM_000122.2(ERCC3):c.2218-5G>A	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B +2 more	GConflicting classifications of pathogenicity
Select item 632330	NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs)	ERCC3 (Q522fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632329	NM_000122.2(ERCC3):c.1887dup (p.Gly630fs)	ERCC3 (G566fs +1 more)	Duplication (frameshift variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 631826	NM_000122.2(ERCC3):c.796_797del (p.Gln266fs)	ERCC3 (Q266fs +1 more)	Microsatellite (frameshift variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 627443	NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)	ERCC3 (R195* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum +1 more	GPathogenic
Select item 369309	NM_000122.2(ERCC3):c.-98A>G	ERCC3	Single nucleotide variant	Xeroderma pigmentosum group B +3 more	GBenign/Likely benign
Select item 331098	NM_000122.1(ERCC3):c.-69C>T	ERCC3	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 331097	NM_000122.2(ERCC3):c.-19C>T	ERCC3	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum group B	GLikely benign
Select item 331096	NM_000122.2(ERCC3):c.28+8G>A	ERCC3	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum group B +1 more	GConflicting classifications of pathogenicity
Select item 331095	NM_000122.2(ERCC3):c.29-15G>T	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B +1 more	GBenign/Likely benign
Select item 331094	NM_000122.2(ERCC3):c.254T>G (p.Phe85Cys)	ERCC3 (F85C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 331092	NM_000122.2(ERCC3):c.359C>T (p.Ala120Val)	ERCC3 (A120V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 331091	NM_000122.2(ERCC3):c.385G>A (p.Val129Ile)	ERCC3 (V129I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 331090	NM_000122.2(ERCC3):c.615G>A (p.Glu205=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +1 more	GBenign
Select item 331089	NM_000122.2(ERCC3):c.618C>T (p.Ala206=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +1 more	GConflicting classifications of pathogenicity
Select item 331088	NM_000122.2(ERCC3):c.657+15G>A	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B +1 more	GConflicting classifications of pathogenicity
Select item 331087	NM_000122.2(ERCC3):c.822+14C>T	ERCC3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331086	NM_000122.2(ERCC3):c.1026C>T (p.Cys342=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +2 more	GConflicting classifications of pathogenicity
Select item 331085	NM_000122.2(ERCC3):c.1027+3A>G	ERCC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 331084	NM_000122.2(ERCC3):c.1078C>T (p.Arg360Cys)	ERCC3 (R360C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 331083	NM_000122.2(ERCC3):c.1119G>A (p.Gln373=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +1 more	GBenign/Likely benign
Select item 331082	NM_000122.2(ERCC3):c.1155C>T (p.Asp385=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 331081	NM_000122.2(ERCC3):c.1156G>A (p.Asp386Asn)	ERCC3 (D386N +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 331080	NM_000122.2(ERCC3):c.1371C>T (p.Ile457=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331079	NM_000122.2(ERCC3):c.1485G>A (p.Glu495=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +1 more	GBenign/Likely benign
Select item 331078	NM_000122.2(ERCC3):c.1731-11T>C	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B +1 more	GConflicting classifications of pathogenicity
Select item 331077	NM_000122.2(ERCC3):c.1929G>T (p.Val643=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331076	NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)	ERCC3 (A694T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 331074	NM_000122.2(ERCC3):c.2106G>A (p.Ala702=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +2 more	GConflicting classifications of pathogenicity
Select item 331073	NM_000122.2(ERCC3):c.2112G>A (p.Ser704=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331072	NM_000122.2(ERCC3):c.*29C>T	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B +1 more	GBenign/Likely benign
Select item 331071	NM_000122.2(ERCC3):c.*106T>C	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B +1 more	GLikely benign
Select item 331070	NM_000122.2(ERCC3):c.*177A>G	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B +1 more	GBenign
Select item 331068	NM_000122.2(ERCC3):c.*259G>A	ERCC3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 265515	NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	ERCC3 (R109* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 134130	NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)	ERCC3 (D474fs +1 more)	Duplication (frameshift variant)	Xeroderma pigmentosum +3 more	GPathogenic/Likely pathogenic
Select item 134128	NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)	ERCC3 (R283C +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 134120	NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)	ERCC3 (S704L +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B +2 more	GBenign/Likely benign
Select item 16589	NM_000122.2(ERCC3):c.471+1G>A	ERCC3	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum	GPathogenic
Select item 16588	NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter)	ERCC3 (Q545* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum group B	GPathogenic
Select item 16586	NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer)	ERCC3	Deletion (nonsense)	not provided	GPathogenic
Select item 16585	NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	ERCC3 (R425* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 16583	NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)	ERCC3 (F99S +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B	GPathogenic
Select item 16582	NM_000122.2(ERCC3):c.2218-6C>A	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B	GPathogenic

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Items: 87