ClinVar for MedGen (Select 355730) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441812	NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)	ERCC2 (D673fs)	Deletion (frameshift variant)	Trichothiodystrophy 1, photosensitive +2 more	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 1705268	NM_000400.4(ERCC2):c.2191-1G>A	ERCC2	Single nucleotide variant (splice acceptor variant)	Trichothiodystrophy 1, photosensitive	GPathogenic
Select item 1705267	NM_000400.4(ERCC2):c.2074A>G (p.Lys692Glu)	ERCC2 (K692E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1446946	NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr)	ERCC2 (D655Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1430338	NM_000400.4(ERCC2):c.2084G>A (p.Arg695His)	ERCC2 (R695H)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +4 more	GUncertain significance
Select item 1415975	NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)	ERCC2 (R666W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1397433	NM_000400.4(ERCC2):c.860G>A (p.Arg287His)	ERCC2 (R263H +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +3 more	GUncertain significance
Select item 1394100	NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr)	ERCC2 (A10T +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +3 more	GUncertain significance
Select item 1363277	NM_000400.4(ERCC2):c.1867dup (p.Val623fs)	ERCC2 (V623fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 1341336	NM_000400.4(ERCC2):c.1118+4C>T	ERCC2	Single nucleotide variant (intron variant)	Trichothiodystrophy 1, photosensitive	GUncertain significance
Select item 1329484	NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)	ERCC2 (R658G)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +1 more	GLikely pathogenic
Select item 1327087	NM_000400.4(ERCC2):c.1843G>A (p.Gly615Arg)	ERCC2 (G615R)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive	GUncertain significance
Select item 1327079	NM_000400.4(ERCC2):c.491A>G (p.His164Arg)	ERCC2 (H140R +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +1 more	GUncertain significance
Select item 1327073	NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile)	ERCC2 (T653I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1320637	NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln)	ERCC2 (E143Q +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +3 more	GUncertain significance
Select item 1319436	NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)	ERCC2 (Q662*)	Single nucleotide variant (nonsense)	Trichothiodystrophy 1, photosensitive +2 more	GPathogenic
Select item 1319434	NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)	ERCC2 (D732G)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +2 more	GConflicting classifications of pathogenicity
Select item 1319424	NM_000400.4(ERCC2):c.92C>T (p.Thr31Met)	ERCC2 (T31M +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +3 more	GUncertain significance
Select item 1206217	NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln)	ERCC2 (R518Q)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +4 more	GUncertain significance
Select item 1175040	NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu)	ERCC2 (D216E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1029821	NM_000400.4(ERCC2):c.595-10G>A	ERCC2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1028731	NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)	ERCC2 (R88C +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +2 more	GConflicting classifications of pathogenicity
Select item 998351	NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp)	ERCC2 (R161W +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 998350	NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs)	ERCC2 (V476fs)	Insertion (frameshift variant)	Trichothiodystrophy 1, photosensitive	GUncertain significance
Select item 997570	NM_000400.4(ERCC2):c.1238-1192G>A	ERCC2 (S396N)	Single nucleotide variant (missense variant +1 more)	Trichothiodystrophy 1, photosensitive	GUncertain significance
Select item 997550	NM_000400.4(ERCC2):c.1832-3C>G	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 997520	NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)	ERCC2 (R616Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 997453	NM_000400.4(ERCC2):c.1119-85G>A	ERCC2	Single nucleotide variant (intron variant)	Trichothiodystrophy 1, photosensitive	GUncertain significance
Select item 894684	NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)	ERCC2 (V447I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 893766	NM_000400.4(ERCC2):c.1606G>A (p.Val536Met)	ERCC2 (V536M)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +5 more	GUncertain significance
Select item 893461	NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)	ERCC2 (V611A)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +2 more	GUncertain significance
Select item 797842	NM_000400.4(ERCC2):c.1317C>T (p.Asp439=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 785627	NM_000400.4(ERCC2):c.2191-4G>A	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +3 more	GConflicting classifications of pathogenicity
Select item 712863	NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=)	ERCC2	Single nucleotide variant (synonymous variant)	Cerebrooculofacioskeletal syndrome 2 +6 more	GBenign/Likely benign
Select item 695543	NM_000400.4(ERCC2):c.1584C>A (p.Ser528=)	ERCC2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum +5 more	GLikely benign
Select item 402226	NM_000400.4(ERCC2):c.594+2_594+5del	ERCC2	Deletion (splice donor variant)	Xeroderma pigmentosum +4 more	GPathogenic/Likely pathogenic
Select item 329520	NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)	ERCC2 (Q316E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 329508	NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	ERCC2 (R616P)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +5 more	GPathogenic
Select item 329496	NM_177417.3(KLC3):c.*100C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 264679	NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	ERCC2	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +3 more	GPathogenic
Select item 256021	NM_000400.4(ERCC2):c.468A>C (p.Arg156=)	ERCC2	Single nucleotide variant (synonymous variant)	Trichothiodystrophy 1, photosensitive +4 more	GBenign
Select item 256020	NM_000400.4(ERCC2):c.247-35G>A	ERCC2	Single nucleotide variant (intron variant)	Trichothiodystrophy 1, photosensitive +4 more	GBenign
Select item 256018	NM_000400.4(ERCC2):c.2133C>T (p.Asp711=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 256016	NM_000400.4(ERCC2):c.1758+32C>G	ERCC2	Single nucleotide variant (intron variant)	Trichothiodystrophy 1, photosensitive +4 more	GBenign
Select item 256015	NM_000400.4(ERCC2):c.1737C>T (p.Val579=)	ERCC2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 218158	NM_138701.4(MPLKIP):c.505dup (p.Thr169fs)	MPLKIP (T169fs)	Duplication (frameshift variant)	Trichothiodystrophy 1, photosensitive	GPathogenic
Select item 134117	NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)	ERCC2 (D312N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 134116	NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys)	ERCC2 (R227C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 134112	NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly)	ERCC2 (E95G +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +4 more	GBenign/Likely benign
Select item 134105	NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)	ERCC2 (K751Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 134102	NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	ERCC2 (A717G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 134099	NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)	ERCC2 (Q629H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 134098	NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)	ERCC2 (Y16C)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +6 more	GConflicting classifications of pathogenicity
Select item 134095	NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	ERCC2 (F568fs)	Deletion (frameshift variant)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 16793	NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	ERCC2	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 16792	NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	ERCC2 (R722W)	Single nucleotide variant (missense variant)	Trichothiodystrophy +6 more	GPathogenic
Select item 16786	NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg)	ERCC2 (G713R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16785	NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)	ERCC2 (R658C)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 16784	NM_000400.4(ERCC2):c.335G>A (p.Arg112His)	ERCC2 (R112H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 16781	NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)	ERCC2 (A725P)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +5 more	GPathogenic/Likely pathogenic
Select item 16779	NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	ERCC2 (L461V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity

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Items: 62