ClinVar for Gene (Select 101243544) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430381	NM_000124.4(ERCC6):c.22del (p.His8fs)	ERCC6, ERCC6-PGBD3 (H8fs)	Deletion (frameshift variant)	DE SANCTIS-CACCHIONE SYNDROME +2 more	GPathogenic
Select item 2428167	NM_000124.4(ERCC6):c.203G>C (p.Arg68Thr)	ERCC6-PGBD3, ERCC6 (R68T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199781	NM_000124.4(ERCC6):c.335A>G (p.Gln112Arg)	ERCC6, ERCC6-PGBD3 (Q112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199487	NM_000124.4(ERCC6):c.401G>A (p.Arg134Gln)	ERCC6-PGBD3, ERCC6 (R134Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182128	NM_000124.4(ERCC6):c.107G>A (p.Gly36Asp)	ERCC6, ERCC6-PGBD3 (G36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176613	NM_000124.4(ERCC6):c.883G>A (p.Ala295Thr)	ERCC6, ERCC6-PGBD3 (A295T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173293	NM_000124.4(ERCC6):c.1358G>A (p.Arg453Gln)	PGBD3, ERCC6 +1 more (R453Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2170223	NM_000124.4(ERCC6):c.733A>G (p.Met245Val)	ERCC6-PGBD3, ERCC6 (M245V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165448	NM_000124.4(ERCC6):c.1397+6T>C	ERCC6, PGBD3 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2163792	NM_000124.4(ERCC6):c.54A>T (p.Leu18Phe)	ERCC6, ERCC6-PGBD3 (L18F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161088	NM_000124.4(ERCC6):c.76A>G (p.Asn26Asp)	ERCC6-PGBD3, ERCC6 (N26D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160330	NM_000124.4(ERCC6):c.97C>A (p.Gln33Lys)	ERCC6, ERCC6-PGBD3 (Q33K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158404	NM_000124.4(ERCC6):c.59G>A (p.Ser20Asn)	ERCC6-PGBD3, ERCC6 (S20N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157850	NM_000124.4(ERCC6):c.365G>A (p.Arg122His)	ERCC6, ERCC6-PGBD3 (R122H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153899	NM_000124.4(ERCC6):c.1054A>G (p.Arg352Gly)	ERCC6, ERCC6-PGBD3 (R352G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150284	NM_000124.4(ERCC6):c.1367G>A (p.Gly456Glu)	PGBD3, ERCC6-PGBD3 +1 more (G456E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2149147	NM_000124.4(ERCC6):c.733A>T (p.Met245Leu)	ERCC6, ERCC6-PGBD3 (M245L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148723	NM_000124.4(ERCC6):c.805T>A (p.Ser269Thr)	ERCC6, ERCC6-PGBD3 (S269T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140085	NM_000124.4(ERCC6):c.979C>T (p.Arg327Cys)	ERCC6-PGBD3, ERCC6 (R327C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128255	NM_000124.4(ERCC6):c.1354T>C (p.Tyr452His)	ERCC6, PGBD3 +1 more (Y452H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113975	NM_000124.4(ERCC6):c.427T>C (p.Cys143Arg)	ERCC6-PGBD3, ERCC6 (C143R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038711	NM_000124.4(ERCC6):c.1204T>C (p.Tyr402His)	ERCC6, PGBD3 +1 more (Y402H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1990069	NM_000124.4(ERCC6):c.367G>A (p.Ala123Thr)	ERCC6-PGBD3, ERCC6 (A123T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988398	NM_000124.4(ERCC6):c.1391G>T (p.Arg464Leu)	PGBD3, ERCC6 +1 more (R464L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1984460	NM_000124.4(ERCC6):c.412G>A (p.Asp138Asn)	ERCC6-PGBD3, ERCC6 (D138N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950085	NM_000124.4(ERCC6):c.581A>G (p.His194Arg)	ERCC6-PGBD3, ERCC6 (H194R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947295	NM_000124.4(ERCC6):c.1087G>A (p.Ala363Thr)	ERCC6-PGBD3, ERCC6 (A363T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935880	NM_000124.4(ERCC6):c.324A>T (p.Gly108=)	ERCC6, ERCC6-PGBD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1924155	NM_000124.4(ERCC6):c.157G>A (p.Gly53Arg)	ERCC6, ERCC6-PGBD3 (G53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913792	NM_000124.4(ERCC6):c.1322_1327dup (p.Gly442_Gly443insGluGly)	PGBD3, ERCC6 +1 more	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1726531	NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)	ERCC6, ERCC6-PGBD3 +1 more (E392*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726473	NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs)	ERCC6, ERCC6-PGBD3 +1 more (A436fs)	Deletion (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726063	NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)	ERCC6, ERCC6-PGBD3 +1 more (K405fs)	Insertion (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725790	NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)	ERCC6, ERCC6-PGBD3 (K152*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725710	NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)	PGBD3, ERCC6 +1 more (K405*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725200	NM_000124.4(ERCC6):c.1154delinsTACACTTTT (p.Asp385fs)	ERCC6, ERCC6-PGBD3 +1 more (D385fs)	Indel (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725196	NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)	ERCC6, ERCC6-PGBD3 (E155*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725176	NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)	ERCC6, ERCC6-PGBD3 (K259*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724969	NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)	ERCC6, ERCC6-PGBD3 +1 more (K448*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724778	NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)	ERCC6, ERCC6-PGBD3 (E207*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724728	NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs)	ERCC6, ERCC6-PGBD3 +1 more (K405fs)	Deletion (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724080	NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs)	ERCC6, ERCC6-PGBD3 +1 more (D425fs)	Insertion (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1712917	NM_001277058.2(ERCC6):c.2609G>A (p.Arg870Gln)	ERCC6-PGBD3, PGBD3 +1 more (R402Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712714	NM_001277058.2(ERCC6):c.1672G>C (p.Val558Leu)	ERCC6-PGBD3, ERCC6 +1 more (V558L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706177	NM_000124.4(ERCC6):c.1397+8746A>G	ERCC6-PGBD3, ERCC6 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1705392	NM_000124.4(ERCC6):c.542dup (p.Glu182fs)	ERCC6, ERCC6-PGBD3 (E182fs)	Duplication (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1029496	NM_000124.4(ERCC6):c.289G>A (p.Val97Met)	ERCC6, ERCC6-PGBD3 (V97M)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1	GUncertain significance
Select item 974894	NM_000124.4(ERCC6):c.543+1G>T	ERCC6-PGBD3, ERCC6	Single nucleotide variant (splice donor variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 932087	NM_001277058.2(ERCC6):c.1696C>T (p.Gln566Ter)	ERCC6, ERCC6-PGBD3 +1 more (Q566* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebrooculofacioskeletal syndrome 1	GUncertain significance
Select item 879772	NM_000124.4(ERCC6):c.958G>C (p.Val320Leu)	ERCC6, ERCC6-PGBD3 (V320L)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 878760	NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser)	ERCC6, ERCC6-PGBD3 +1 more (Y460S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 753304	NM_000124.4(ERCC6):c.1272T>C (p.Asp424=)	ERCC6, ERCC6-PGBD3 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 598675	NM_000124.4(ERCC6):c.129G>T (p.Glu43Asp)	ERCC6, ERCC6-PGBD3 (E43D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596157	NM_000124.4(ERCC6):c.364C>T (p.Arg122Cys)	ERCC6, ERCC6-PGBD3 (R122C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593939	NM_000124.4(ERCC6):c.722G>A (p.Arg241His)	ERCC6-PGBD3, ERCC6 (R241H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593639	NM_000124.4(ERCC6):c.808G>A (p.Gly270Ser)	ERCC6, ERCC6-PGBD3 (G270S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 558026	NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln)	ERCC6, ERCC6-PGBD3 +1 more	Insertion (inframe_insertion +1 more)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 556810	NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer)	ERCC6, ERCC6-PGBD3	Deletion (nonsense)	Cockayne syndrome type 2 +2 more	GLikely pathogenic
Select item 556775	NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del)	ERCC6, ERCC6-PGBD3 +1 more (E441del)	Deletion (inframe_deletion +1 more)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 556515	NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del)	ERCC6, ERCC6-PGBD3 +1 more (G440del)	Deletion (inframe_deletion +1 more)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 553889	NM_000124.4(ERCC6):c.214del (p.Leu72fs)	ERCC6, ERCC6-PGBD3 (L72fs)	Deletion (frameshift variant)	Cockayne syndrome type 2 +2 more	GLikely pathogenic
Select item 553815	NM_000124.4(ERCC6):c.544-2A>G	ERCC6, ERCC6-PGBD3	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 553324	NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup)	ERCC6, ERCC6-PGBD3	Microsatellite (inframe_insertion)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 552306	NM_000124.4(ERCC6):c.1062T>A (p.Pro354=)	ERCC6, ERCC6-PGBD3	Single nucleotide variant (synonymous variant)	Cockayne syndrome type 2 +2 more	GLikely benign
Select item 551983	NM_000124.4(ERCC6):c.259_260del (p.Ala87fs)	ERCC6, ERCC6-PGBD3 (A87fs)	Microsatellite (frameshift variant)	Cockayne syndrome type 2 +2 more	GLikely pathogenic
Select item 551705	NM_000124.4(ERCC6):c.-14-2A>G	ERCC6, ERCC6-PGBD3	Single nucleotide variant (intron variant +1 more)	not specified +7 more	GUncertain significance
Select item 550158	NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del)	ERCC6-PGBD3, ERCC6	Deletion (inframe_deletion)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 522995	NM_000124.4(ERCC6):c.1004del (p.Leu335fs)	ERCC6, ERCC6-PGBD3 (L335fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 1	GPathogenic
Select item 521922	NM_000124.4(ERCC6):c.488_494del (p.Thr163fs)	ERCC6, ERCC6-PGBD3 (T163fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 500495	NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del)	ERCC6, ERCC6-PGBD3 +1 more	Microsatellite (inframe_deletion)	DE SANCTIS-CACCHIONE SYNDROME +3 more	GUncertain significance
Select item 432341	NM_000124.4(ERCC6):c.355G>T (p.Glu119Ter)	ERCC6, ERCC6-PGBD3 (E119*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 300103	NM_000124.4(ERCC6):c.-107A>G	ERCC6, ERCC6-PGBD3	Single nucleotide variant (5 prime UTR variant +1 more)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300093	NM_000124.4(ERCC6):c.595C>G (p.Leu199Val)	ERCC6, ERCC6-PGBD3 (L199V)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +3 more	GUncertain significance
Select item 300088	NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu)	ERCC6, ERCC6-PGBD3 +1 more (D386E)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300082	NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser)	ERCC6, ERCC6-PGBD3 +1 more (F427S)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 5 +3 more	GUncertain significance
Select item 287233	NM_000124.4(ERCC6):c.1340G>A (p.Arg447Gln)	ERCC6, ERCC6-PGBD3 +1 more (R447Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 225904	NM_001277058.2(ERCC6):c.2237G>A (p.Gly746Asp)	ERCC6, ERCC6-PGBD3 +1 more (G746D +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 11	GPathogenic
Select item 210956	NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs)	ERCC6, ERCC6-PGBD3 (E284fs)	Insertion (frameshift variant)	Cockayne syndrome type 2	GPathogenic
Select item 77973	NM_000124.4(ERCC6):c.1281C>T (p.Phe427=)	ERCC6, ERCC6-PGBD3 +1 more	Single nucleotide variant (synonymous variant +1 more)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely benign

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Links from Gene

Items: 79