C1853102[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2675054	NM_000400.4(ERCC2):c.2191-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675069	NM_000400.4(ERCC2):c.2190+1G>T	ERCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1511660	NM_000400.4(ERCC2):c.2190+1del	ERCC2	Deletion (splice donor variant)	not provided +2 more	GPathogenic
Select item 2428974	NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr)	ERCC2 (A725T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 16781	NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)	ERCC2 (A725P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 16792	NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	ERCC2 (R722W)	Single nucleotide variant (missense variant)	ERCC2-related disorder +6 more	GPathogenic
Select item 2765458	NM_000400.4(ERCC2):c.2156_2159dup (p.Phe720fs)	ERCC2 (F720fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675070	NM_000400.4(ERCC2):c.2145_2152del (p.Ala717fs)	ERCC2 (A717fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 134102	NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	ERCC2 (A717G)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1304777	NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter)	ERCC2 (Q715*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2675067	NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)	ERCC2 (W696*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241395	NM_000400.4(ERCC2):c.2068_2069dup (p.Lys692fs)	ERCC2 (K692fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 1515154	NM_000400.4(ERCC2):c.2047-13_2048del	ERCC2	Deletion (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 264679	NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	ERCC2	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +3 more	GPathogenic
Select item 16793	NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	ERCC2	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2675040	NM_000400.4(ERCC2):c.2047-2A>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 499865	NM_000400.4(ERCC2):c.2046+1G>T	ERCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16787	NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)	ERCC2 (D681N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2675053	NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)	ERCC2 (G675R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 1176083	NM_000400.4(ERCC2):c.2009del (p.Gly670fs)	ERCC2 (G670fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1028729	NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)	ERCC2 (K671fs)	Insertion (frameshift variant)	Xeroderma pigmentosum, group D +2 more	GPathogenic
Select item 2675050	NM_000400.4(ERCC2):c.2005_2006del (p.Arg669fs)	ERCC2 (R669fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 445466	NM_000400.4(ERCC2):c.2005del (p.Arg669fs)	ERCC2 (R669fs)	Deletion (frameshift variant)	Xeroderma pigmentosum +2 more	GPathogenic
Select item 3241394	NM_000400.4(ERCC2):c.1999_2000delinsA (p.Ala667fs)	ERCC2 (A667fs)	Indel (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 1415975	NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)	ERCC2 (R666W)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +2 more	GPathogenic/Likely pathogenic
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 1499293	NM_000400.4(ERCC2):c.1973G>A (p.Arg658His)	ERCC2 (R658H)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 16785	NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)	ERCC2 (R658C)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +4 more	GPathogenic/Likely pathogenic
Select item 3241402	NM_000400.4(ERCC2):c.1959del (p.Phe654fs)	ERCC2 (F654fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675028	NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)	ERCC2	Duplication (nonsense +1 more)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241400	NM_000400.4(ERCC2):c.1953_1956del (p.Phe651fs)	ERCC2 (F651fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241397	NM_000400.4(ERCC2):c.1912G>T (p.Glu638Ter)	ERCC2 (E638*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241406	NM_000400.4(ERCC2):c.1902+2T>C	ERCC2	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2865218	NM_000400.4(ERCC2):c.1888_1889del (p.Ser630fs)	ERCC2 (S630fs)	Microsatellite (frameshift variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 134099	NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)	ERCC2 (Q629H)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +5 more	GUncertain significance
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 1363277	NM_000400.4(ERCC2):c.1867dup (p.Val623fs)	ERCC2 (V623fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2 +2 more	GPathogenic
Select item 2675066	NM_000400.4(ERCC2):c.1865del (p.Gly622fs)	ERCC2 (G622fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2736907	NM_000400.4(ERCC2):c.1854CAT[1] (p.Ile619del)	ERCC2 (I619del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
Select item 997520	NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)	ERCC2 (R616Q)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +3 more	GConflicting classifications of pathogenicity
Select item 329508	NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	ERCC2 (R616P)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +5 more	GPathogenic
Select item 16788	NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)	ERCC2 (R616W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2675046	NM_000400.4(ERCC2):c.1832-1G>T	ERCC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 3241407	NM_000400.4(ERCC2):c.1832-2A>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2720662	NM_000400.4(ERCC2):c.1827del (p.Phe610fs)	ERCC2 (F610fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic
Select item 2675062	NM_000400.4(ERCC2):c.1808_1809dup (p.Val604fs)	ERCC2 (V604fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675048	NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)	ERCC2 (K603fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GPathogenic
Select item 2675035	NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)	ERCC2 (K603fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	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 2675030	NM_000400.4(ERCC2):c.1793_1796dup (p.Ala600fs)	ERCC2 (A600fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675055	NM_000400.4(ERCC2):c.1759-2A>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 1319438	NM_000400.4(ERCC2):c.1759-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1679192	NM_000400.4(ERCC2):c.1758+1G>A	ERCC2	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GLikely pathogenic
Select item 2675056	NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)	ERCC2 (Y584*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675038	NM_000400.4(ERCC2):c.1732_1741del (p.Ser578fs)	ERCC2 (S578fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 134095	NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	ERCC2 (F568fs)	Deletion (frameshift variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1322830	NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter)	ERCC2 (Q562*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3023386	NM_000400.4(ERCC2):c.1666-1G>A	ERCC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 420816	NM_000400.4(ERCC2):c.1666-2A>T	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2675042	NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter)	ERCC2 (Q555*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675058	NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)	ERCC2 (W552*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2582251	NM_000400.4(ERCC2):c.1627C>T (p.Gln543Ter)	ERCC2 (Q543*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675061	NM_000400.4(ERCC2):c.1607_1613dup (p.Phe539fs)	ERCC2 (F539fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241416	NM_000400.4(ERCC2):c.1544-7_1552del	ERCC2	Deletion (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675041	NM_000400.4(ERCC2):c.1544-1G>T	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675045	NM_000400.4(ERCC2):c.1543+2_1543+33inv	ERCC2	Inversion (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
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 2168783	NM_000400.4(ERCC2):c.1480-1G>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 3241399	NM_000400.4(ERCC2):c.1480-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 329511	NM_000400.4(ERCC2):c.1479+2dup	ERCC2	Duplication (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2181858	NM_000400.4(ERCC2):c.1479+2T>C	ERCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 3241405	NM_000400.4(ERCC2):c.1378-1_1380del	ERCC2	Deletion (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2138307	NM_000400.4(ERCC2):c.1378-1G>T	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 3241410	NM_000400.4(ERCC2):c.1378-2A>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675068	NM_000400.4(ERCC2):c.1347_1377+7del	ERCC2	Deletion (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675034	NM_000400.4(ERCC2):c.1377+1dup	ERCC2	Duplication (splice donor variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GLikely pathogenic
Select item 1308190	NM_000400.4(ERCC2):c.1377+2T>C	ERCC2	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 620626	NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)	ERCC2 (I456del)	Microsatellite (inframe_deletion)	Xeroderma pigmentosum +3 more	GPathogenic/Likely pathogenic
Select item 1455083	NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter)	ERCC2 (Q452*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1517863	NM_000400.4(ERCC2):c.1308-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2675029	NM_000400.4(ERCC2):c.1307+1G>A	ERCC2	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675031	NM_000400.4(ERCC2):c.1299_1303del (p.His434fs)	ERCC2 (H434fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675043	NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)	ERCC2 (I432fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2976183	NM_000400.4(ERCC2):c.1238-1G>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GLikely pathogenic
Select item 2675057	NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)	ERCC2 (Y386* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241412	NM_000400.4(ERCC2):c.1187dup (p.Leu397fs)	ERCC2 (L373fs +1 more)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675052	NM_000400.4(ERCC2):c.1024del (p.Trp342fs)	ERCC2 (W318fs +1 more)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2169658	NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)	ERCC2 (Y315* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1319444	NM_000400.4(ERCC2):c.1007dup (p.Leu337fs)	ERCC2 (L313fs +1 more)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2675049	NM_000400.4(ERCC2):c.956dup (p.Pro320fs)	ERCC2 (P296fs +1 more)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241403	NM_000400.4(ERCC2):c.950-3_950-2del	ERCC2	Deletion (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241401	NM_000400.4(ERCC2):c.948_949+2delinsCCC	ERCC2	Indel (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241415	NM_000400.4(ERCC2):c.852del (p.Glu284fs)	ERCC2 (E260fs +1 more)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 631814	NM_000400.4(ERCC2):c.816-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2675064	NM_000400.4(ERCC2):c.815+1G>A	ERCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2975092	NM_000400.4(ERCC2):c.778C>T (p.Gln260Ter)	ERCC2 (Q236* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 329522	NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)	ERCC2 (C259Y +1 more)	Single nucleotide variant (missense variant)	ERCC2-related disorder +3 more	GLikely pathogenic
Select item 134116	NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys)	ERCC2 (R227C +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +2 more	GUncertain significance

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