ClinVar for MedGen (Select 342799) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241416	NM_000400.4(ERCC2):c.1544-7_1552del	ERCC2	Deletion (splice acceptor 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 3241412	NM_000400.4(ERCC2):c.1187dup (p.Leu397fs)	ERCC2 (L373fs +1 more)	Duplication (frameshift 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 3241410	NM_000400.4(ERCC2):c.1378-2A>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241408	NM_000400.4(ERCC2):c.256G>T (p.Glu86Ter)	ERCC2 (E62* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	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 3241406	NM_000400.4(ERCC2):c.1902+2T>C	ERCC2	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	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 3241404	NM_000400.4(ERCC2):c.381del (p.Lys128fs)	ERCC2 (K104fs +1 more)	Deletion (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 3241402	NM_000400.4(ERCC2):c.1959del (p.Phe654fs)	ERCC2 (F654fs)	Deletion (frameshift 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 3241400	NM_000400.4(ERCC2):c.1953_1956del (p.Phe651fs)	ERCC2 (F651fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely 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 3241398	NM_000400.4(ERCC2):c.390_391insT (p.Asp131Ter)	ERCC2 (D107* +1 more)	Insertion (nonsense)	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 3241396	NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter)	ERCC2 (C166* +1 more)	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 3241394	NM_000400.4(ERCC2):c.1999_2000delinsA (p.Ala667fs)	ERCC2 (A667fs)	Indel (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely 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 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 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 2957121	NM_000400.4(ERCC2):c.106-5_142del	ERCC2	Deletion (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	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 2765458	NM_000400.4(ERCC2):c.2156_2159dup (p.Phe720fs)	ERCC2 (F720fs)	Duplication (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 2720662	NM_000400.4(ERCC2):c.1827del (p.Phe610fs)	ERCC2 (F610fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic
Select item 2675070	NM_000400.4(ERCC2):c.2145_2152del (p.Ala717fs)	ERCC2 (A717fs)	Deletion (frameshift 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 2675068	NM_000400.4(ERCC2):c.1347_1377+7del	ERCC2	Deletion (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
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 2675066	NM_000400.4(ERCC2):c.1865del (p.Gly622fs)	ERCC2 (G622fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675065	NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)	ERCC2 (E27* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely 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 2675063	NM_000400.4(ERCC2):c.28_58dup (p.Glu20fs)	ERCC2 (E20fs)	Duplication (frameshift variant +1 more)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675062	NM_000400.4(ERCC2):c.1808_1809dup (p.Val604fs)	ERCC2 (V604fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely 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 2675060	NM_000400.4(ERCC2):c.136dup (p.Thr46fs)	ERCC2 (T22fs +1 more)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675059	NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)	ERCC2 (Y187* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely 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 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 2675056	NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)	ERCC2 (Y584*)	Single nucleotide variant (nonsense)	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 2675054	NM_000400.4(ERCC2):c.2191-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
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 2675052	NM_000400.4(ERCC2):c.1024del (p.Trp342fs)	ERCC2 (W318fs +1 more)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	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 2675050	NM_000400.4(ERCC2):c.2005_2006del (p.Arg669fs)	ERCC2 (R669fs)	Deletion (frameshift variant)	not provided +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 2675048	NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)	ERCC2 (K603fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GPathogenic
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 2675045	NM_000400.4(ERCC2):c.1543+2_1543+33inv	ERCC2	Inversion (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675044	NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)	ERCC2 (Q163* +1 more)	Single nucleotide variant (nonsense)	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 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 2675041	NM_000400.4(ERCC2):c.1544-1G>T	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely 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 2675039	NM_000400.4(ERCC2):c.361-1G>A	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GPathogenic
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 2675037	NM_000400.4(ERCC2):c.326_344del (p.Leu109fs)	ERCC2 (L109fs +1 more)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675036	NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)	ERCC2 (C110* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675035	NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)	ERCC2 (K603fs)	Duplication (frameshift 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 2675033	NM_000400.4(ERCC2):c.478-2A>G	ERCC2	Single nucleotide variant (splice acceptor 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 2675030	NM_000400.4(ERCC2):c.1793_1796dup (p.Ala600fs)	ERCC2 (A600fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	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 2675028	NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)	ERCC2	Duplication (nonsense +1 more)	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 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 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 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 2184510	NM_000400.4(ERCC2):c.586C>T (p.Arg196Ter)	ERCC2 (R172* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 2168783	NM_000400.4(ERCC2):c.1480-1G>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely 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 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 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 1517863	NM_000400.4(ERCC2):c.1308-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	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 1511660	NM_000400.4(ERCC2):c.2190+1del	ERCC2	Deletion (splice donor variant)	not provided +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 1455083	NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter)	ERCC2 (Q452*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1423195	NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)	ERCC2 (H124Y +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +4 more	GConflicting classifications of pathogenicity
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 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)	Trichothiodystrophy 1, photosensitive +3 more	GUncertain significance
Select item 1363277	NM_000400.4(ERCC2):c.1867dup (p.Val623fs)	ERCC2 (V623fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2 +2 more	GPathogenic
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 1322829	NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer)	ERCC2	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 1320637	NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln)	ERCC2 (E143Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1320050	NM_000400.4(ERCC2):c.676G>T (p.Ala226Ser)	ERCC2 (A202S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 1319436	NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)	ERCC2 (Q662*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2 +2 more	GPathogenic

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