ClinVar for MedGen (Select 155487) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24303811.	NM_000124.4(ERCC6):c.22del (p.His8fs) GRCh37: Chr10:50740989 GRCh38: Chr10:49532943	ERCC6, ERCC6-PGBD3	H8fs	DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Pathogenic (Feb 24, 2023)	criteria provided, single submitter
Select item 18007972.	NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter) GRCh37: Chr10:50678747 GRCh38: Chr10:49470701	ERCC6	R1087*	not provided, Cockayne syndrome type 2	Pathogenic/Likely pathogenic (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17269933.	NM_000124.4(ERCC6):c.2636del (p.Lys879fs) GRCh37: Chr10:50681596 GRCh38: Chr10:49473550	ERCC6	K879fs	Cockayne syndrome type 2	Likely pathogenic (Jan 8, 2022)	criteria provided, single submitter
Select item 17268834.	NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs) GRCh37: Chr10:50680464-50680465 GRCh38: Chr10:49472418-49472419	ERCC6, LOC126860933	R961fs	Cockayne syndrome type 2	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268615.	NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs) GRCh37: Chr10:50684335-50684336 GRCh38: Chr10:49476289-49476290	ERCC6	D770fs	Cockayne syndrome type 2	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268146.	NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs) GRCh37: Chr10:50690767-50690768 GRCh38: Chr10:49482721-49482722	ERCC6	T712fs	Cockayne syndrome type 2	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267477.	NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter) GRCh37: Chr10:50678324 GRCh38: Chr10:49470278	ERCC6	K1228*	Cockayne syndrome type 2	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 17267188.	NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs) GRCh37: Chr10:50713988-50713989 GRCh38: Chr10:49505942-49505943	ERCC6	S489fs	Cockayne syndrome type 2	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 17266399.	NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter) GRCh37: Chr10:50680988 GRCh38: Chr10:49472942	ERCC6, LOC126860933	Y932*	Cockayne syndrome type 2	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 172663110.	NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter) GRCh37: Chr10:50690867 GRCh38: Chr10:49482821	ERCC6	Q679*	Cockayne syndrome type 2	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 172653111.	NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter) GRCh37: Chr10:50732302 GRCh38: Chr10:49524256	ERCC6, ERCC6-PGBD3, PGBD3	E392*	Cockayne syndrome type 2	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172647312.	NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs) GRCh37: Chr10:50732160-50732169 GRCh38: Chr10:49524114-49524123	ERCC6, ERCC6-PGBD3, PGBD3	A436fs	Cockayne syndrome type 2	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172645113.	NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs) GRCh37: Chr10:50678328-50678329 GRCh38: Chr10:49470282-49470283	ERCC6	V1226fs	Cockayne syndrome type 2	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172637814.	NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter) GRCh37: Chr10:50691470 GRCh38: Chr10:49483424	ERCC6	Y638*	Cockayne syndrome type 2	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172635415.	NM_000124.4(ERCC6):c.1905del (p.Ser636fs) GRCh37: Chr10:50691479 GRCh38: Chr10:49483433	ERCC6	S636fs	Cockayne syndrome type 2	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172618316.	NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs) GRCh37: Chr10:50678382-50678383 GRCh38: Chr10:49470336-49470337	ERCC6	S1209fs	Cockayne syndrome type 2	Likely pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 172606317.	NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs) GRCh37: Chr10:50732261-50732262 GRCh38: Chr10:49524215-49524216	ERCC6, ERCC6-PGBD3, PGBD3	K405fs	Cockayne syndrome type 2	Likely pathogenic (May 15, 2022)	criteria provided, single submitter
Select item 172596718.	NM_000124.4(ERCC6):c.1040del (p.Gly347fs) GRCh37: Chr10:50732436 GRCh38: Chr10:49524390	ERCC6-PGBD3, ERCC6	G347fs	not provided, Cockayne syndrome type 2	Pathogenic/Likely pathogenic (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172588719.	NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs) GRCh37: Chr10:50679088-50679089 GRCh38: Chr10:49471042-49471043	ERCC6	L1001fs	Cockayne syndrome type 2	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 172588620.	NM_000124.4(ERCC6):c.1815del (p.His605fs) GRCh37: Chr10:50701169 GRCh38: Chr10:49493123	ERCC6	H605fs	Cockayne syndrome type 2	Likely pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 172580921.	NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs) GRCh37: Chr10:50678407-50678408 GRCh38: Chr10:49470361-49470362	ERCC6	L1200fs	Cockayne syndrome type 2	Likely pathogenic (Dec 7, 2021)	criteria provided, single submitter
Select item 172579022.	NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter) GRCh37: Chr10:50738855 GRCh38: Chr10:49530809	ERCC6, ERCC6-PGBD3	K152*	Cockayne syndrome type 2	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 172571023.	NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter) GRCh37: Chr10:50732263 GRCh38: Chr10:49524217	PGBD3, ERCC6, ERCC6-PGBD3	K405*	Cockayne syndrome type 2	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172529724.	NM_000124.4(ERCC6):c.2106del (p.Phe703fs) GRCh37: Chr10:50690796 GRCh38: Chr10:49482750	ERCC6	F703fs	Cockayne syndrome type 2	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172526525.	NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs) GRCh37: Chr10:50678771-50678772 GRCh38: Chr10:49470725-49470726	ERCC6	E1079fs	Cockayne syndrome type 2	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172520026.	NM_000124.4(ERCC6):c.1154delinsTACACTTTT (p.Asp385fs) GRCh37: Chr10:50732322 GRCh38: Chr10:49524276	ERCC6, ERCC6-PGBD3, PGBD3	D385fs	Cockayne syndrome type 2	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172519627.	NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter) GRCh37: Chr10:50738846 GRCh38: Chr10:49530800	ERCC6, ERCC6-PGBD3	E155*	Cockayne syndrome type 2	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172517628.	NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter) GRCh37: Chr10:50732701 GRCh38: Chr10:49524655	ERCC6, ERCC6-PGBD3	K259*	Cockayne syndrome type 2	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172496929.	NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter) GRCh37: Chr10:50732134 GRCh38: Chr10:49524088	ERCC6, ERCC6-PGBD3, PGBD3	K448*	Cockayne syndrome type 2	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172495130.	NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs) GRCh37: Chr10:50678237-50678238 GRCh38: Chr10:49470191-49470192	ERCC6	K1258fs	Cockayne syndrome type 2	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172493731.	NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs) GRCh37: Chr10:50678434-50678435 GRCh38: Chr10:49470388-49470389	ERCC6	A1191fs	Cockayne syndrome type 2	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172492732.	NM_000124.4(ERCC6):c.2166del (p.Gln723fs) GRCh37: Chr10:50690736 GRCh38: Chr10:49482690	ERCC6	Q723fs	Cockayne syndrome type 2	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172481033.	NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs) GRCh37: Chr10:50701224-50701225 GRCh38: Chr10:49493178-49493179	ERCC6	T587fs	Cockayne syndrome type 2	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 172478934.	NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs) GRCh37: Chr10:50678500-50678501 GRCh38: Chr10:49470454-49470455	ERCC6	W1169fs	Cockayne syndrome type 2	Likely pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 172477835.	NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter) GRCh37: Chr10:50736496 GRCh38: Chr10:49528450	ERCC6, ERCC6-PGBD3	E207*	Cockayne syndrome type 2	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172472836.	NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs) GRCh37: Chr10:50732263-50732264 GRCh38: Chr10:49524217-49524218	ERCC6, ERCC6-PGBD3, PGBD3	K405fs	Cockayne syndrome type 2	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172448537.	NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs) GRCh37: Chr10:50678516-50678517 GRCh38: Chr10:49470470-49470471	ERCC6	Q1164fs	Cockayne syndrome type 2	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172431538.	NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter) GRCh37: Chr10:50691458 GRCh38: Chr10:49483412	ERCC6	Y642*	Cockayne syndrome type 2	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172422639.	NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter) GRCh37: Chr10:50701265 GRCh38: Chr10:49493219	ERCC6	C573*	Cockayne syndrome type 2	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172413840.	NM_000124.4(ERCC6):c.2548del (p.Ile850fs) GRCh37: Chr10:50682123 GRCh38: Chr10:49474077	ERCC6	I850fs	Cockayne syndrome type 2	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 172408041.	NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs) GRCh37: Chr10:50732201-50732202 GRCh38: Chr10:49524155-49524156	ERCC6, ERCC6-PGBD3, PGBD3	D425fs	Cockayne syndrome type 2	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 172404842.	NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs) GRCh37: Chr10:50691515-50691517 GRCh38: Chr10:49483469-49483471	ERCC6	T623fs	Cockayne syndrome type 2	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172402043.	NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter) GRCh37: Chr10:50678684 GRCh38: Chr10:49470638	ERCC6	G1108*	Cockayne syndrome type 2	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 170573144.	NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs) GRCh37: Chr10:50682121-50682124 GRCh38: Chr10:49474075-49474078	ERCC6	K849fs	Cockayne syndrome type 2	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170539245.	NM_000124.4(ERCC6):c.542dup (p.Glu182fs) GRCh37: Chr10:50738766-50738767 GRCh38: Chr10:49530720-49530721	ERCC6, ERCC6-PGBD3	E182fs	Cockayne syndrome type 2	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 167995146.	NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter) GRCh37: Chr10:50732626 GRCh38: Chr10:49524580	ERCC6	E284*	not provided, Cockayne syndrome type 2	Pathogenic (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152143447.	NM_000124.4(ERCC6):c.2037A>G (p.Gln679=) GRCh37: Chr10:50690865 GRCh38: Chr10:49482819	ERCC6		not provided, Lung cancer, UV-sensitive syndrome 1, Premature ovarian failure 11, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, Age related macular degeneration 5	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 151611348.	NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) GRCh37: Chr10:50668466 GRCh38: Chr10:49460420	ERCC6	F1339L	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Age related macular degeneration 5, Cockayne syndrome type 2, UV-sensitive syndrome 1, Lung cancer, Premature ovarian failure 11, not provided, not specified	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143118149.	NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser) GRCh37: Chr10:50681527 GRCh38: Chr10:49473481	ERCC6	N902S	not provided, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, UV-sensitive syndrome 1, Age related macular degeneration 5, Premature ovarian failure 11, Lung cancer, DE SANCTIS-CACCHIONE SYNDROME	Uncertain significance (Nov 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133359950.	NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) GRCh37: Chr10:50686474 GRCh38: Chr10:49478428	ERCC6	I738L	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME, Lung cancer, UV-sensitive syndrome 1, Age related macular degeneration 5, Premature ovarian failure 11, Inborn genetic diseases, not provided, Cockayne syndrome type 2	Conflicting interpretations of pathogenicity (Mar 6, 2023)	criteria provided, conflicting interpretations
Select item 133322151.	NM_000124.4(ERCC6):c.2336del (p.Phe779fs) GRCh37: Chr10:50684307 GRCh38: Chr10:49476261	ERCC6	F779fs	Cockayne syndrome type 2	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132165852.	NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys) GRCh37: Chr10:50732755 GRCh38: Chr10:49524709	ERCC6-PGBD3, ERCC6	R241C	not provided, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, UV-sensitive syndrome 1, Age related macular degeneration 5, Premature ovarian failure 11, Lung cancer	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129943353.	NM_000124.4(ERCC6):c.652G>A (p.Glu218Lys) GRCh37: Chr10:50736463 GRCh38: Chr10:49528417	ERCC6, ERCC6-PGBD3	E218K	Cockayne syndrome type 2	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 122620054.	NM_000124.4(ERCC6):c.2382+33T>C GRCh37: Chr10:50684228 GRCh38: Chr10:49476182	ERCC6		UV-sensitive syndrome 1, not provided, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121422155.	NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met) GRCh37: Chr10:50701164 GRCh38: Chr10:49493118	ERCC6	K607M	not provided, Premature ovarian failure 11, Cerebrooculofacioskeletal syndrome 1, UV-sensitive syndrome 1, Lung cancer, Age related macular degeneration 5, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME	Uncertain significance (May 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 113189056.	NM_000124.4(ERCC6):c.804A>G (p.Ala268=) GRCh37: Chr10:50732672 GRCh38: Chr10:49524626	ERCC6, ERCC6-PGBD3		DE SANCTIS-CACCHIONE SYNDROME, Age related macular degeneration 5, UV-sensitive syndrome 1, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, Lung cancer, Premature ovarian failure 11, not provided	Likely benign (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103407757.	NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) GRCh37: Chr10:50690808-50690809 GRCh38: Chr10:49482762-49482763	ERCC6	T699fs	Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, Premature ovarian failure 11, DE SANCTIS-CACCHIONE SYNDROME, UV-sensitive syndrome 1, Age related macular degeneration 5, Lung cancer, not provided	Pathogenic (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99803258.	NM_000124.4(ERCC6):c.[1727C>G;1834C>T] GRCh37: Chr10:50691550 Chr10:50701257 GRCh38: Chr10:49483504 Chr10:49493211	ERCC6, ERCC6	R612*, T576R	Cerebrooculofacioskeletal syndrome 1	Pathogenic (May 31, 2019)	no assertion criteria provided
Select item 98425259.	NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter) GRCh37: Chr10:50678249 GRCh38: Chr10:49470203	ERCC6	E1253*	Cockayne syndrome type 2	Likely pathogenic (Apr 23, 2019)	criteria provided, single submitter
Select item 98414160.	NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter) GRCh37: Chr10:50736541 GRCh38: Chr10:49528495	ERCC6, ERCC6-PGBD3	Q192*	not provided, Cockayne syndrome type 2	Pathogenic/Likely pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98414061.	NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter) GRCh37: Chr10:50713940 GRCh38: Chr10:49505894	ERCC6	K506*	Cockayne syndrome type 2	Likely pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 98413962.	NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter) GRCh37: Chr10:50701207 GRCh38: Chr10:49493161	ERCC6	R593*	Cockayne syndrome type 2	Likely pathogenic (Dec 28, 2019)	criteria provided, single submitter
Select item 98413863.	NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter) GRCh37: Chr10:50701168 GRCh38: Chr10:49493122	ERCC6	K606*	Cockayne syndrome type 2	Likely pathogenic (Feb 5, 2019)	criteria provided, single submitter
Select item 98413764.	NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter) GRCh37: Chr10:50686485 GRCh38: Chr10:49478439	ERCC6	L734*	Cockayne syndrome type 2	Likely pathogenic (Dec 6, 2019)	criteria provided, single submitter
Select item 98377165.	NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter) GRCh37: Chr10:50684263 GRCh38: Chr10:49476217	ERCC6	Q794*	Cockayne syndrome type 2	Likely pathogenic (Sep 7, 2019)	criteria provided, single submitter
Select item 98377066.	NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter) GRCh37: Chr10:50682167 GRCh38: Chr10:49474121	ERCC6	W835*	Cockayne syndrome type 2	Likely pathogenic (Mar 31, 2019)	criteria provided, single submitter
Select item 98376967.	NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter) GRCh37: Chr10:50682128 GRCh38: Chr10:49474082	ERCC6	L848*	Cockayne syndrome type 2	Likely pathogenic (Oct 24, 2019)	criteria provided, single submitter
Select item 98376868.	NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter) GRCh37: Chr10:50682105 GRCh38: Chr10:49474059	ERCC6	Q856*	Cockayne syndrome type 2	Likely pathogenic (Mar 5, 2020)	criteria provided, single submitter
Select item 98376769.	NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter) GRCh37: Chr10:50680977 GRCh38: Chr10:49472931	ERCC6, LOC126860933	W936*	Cockayne syndrome type 2	Likely pathogenic (May 7, 2019)	criteria provided, single submitter
Select item 98376670.	NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter) GRCh37: Chr10:50680500 GRCh38: Chr10:49472454	ERCC6, LOC126860933	W949*	Cockayne syndrome type 2	Likely pathogenic (Dec 4, 2019)	criteria provided, single submitter
Select item 98376571.	NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter) GRCh37: Chr10:50679084 GRCh38: Chr10:49471038	ERCC6	E1003*	Cockayne syndrome type 2	Likely pathogenic (Dec 15, 2019)	criteria provided, single submitter
Select item 98376472.	NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter) GRCh37: Chr10:50679021 GRCh38: Chr10:49470975	ERCC6	G1024*	Cockayne syndrome type 2	Likely pathogenic (Dec 23, 2019)	criteria provided, single submitter
Select item 98369173.	NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter) GRCh37: Chr10:50678909 GRCh38: Chr10:49470863	ERCC6	K1033*	Cockayne syndrome type 2	Likely pathogenic (Dec 27, 2019)	criteria provided, single submitter
Select item 98369074.	NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter) GRCh37: Chr10:50678651 GRCh38: Chr10:49470605	ERCC6	E1119*	Cockayne syndrome type 2	Likely pathogenic (Jun 28, 2019)	criteria provided, single submitter
Select item 98368975.	NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter) GRCh37: Chr10:50678558 GRCh38: Chr10:49470512	ERCC6	K1150*	Cockayne syndrome type 2	Likely pathogenic (May 31, 2019)	criteria provided, single submitter
Select item 98368876.	NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter) GRCh37: Chr10:50678541 GRCh38: Chr10:49470495	ERCC6	Y1155*	Cockayne syndrome type 2	Likely pathogenic (Mar 3, 2020)	criteria provided, single submitter
Select item 98368777.	NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter) GRCh37: Chr10:50678462 GRCh38: Chr10:49470416	ERCC6	K1182*	Cockayne syndrome type 2	Likely pathogenic (May 1, 2019)	criteria provided, single submitter
Select item 98368678.	NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter) GRCh37: Chr10:50678432 GRCh38: Chr10:49470386	ERCC6	E1192*	Cockayne syndrome type 2	Likely pathogenic (Apr 27, 2019)	criteria provided, single submitter
Select item 98368579.	NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter) GRCh37: Chr10:50678369 GRCh38: Chr10:49470323	ERCC6	R1213*	Cockayne syndrome type 2	Likely pathogenic (Oct 24, 2019)	criteria provided, single submitter
Select item 98368480.	NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter) GRCh37: Chr10:50678351 GRCh38: Chr10:49470305	ERCC6	G1219*	Cockayne syndrome type 2	Likely pathogenic (Aug 5, 2019)	criteria provided, single submitter
Select item 97489481.	NM_000124.4(ERCC6):c.543+1G>T GRCh37: Chr10:50738765 GRCh38: Chr10:49530719	ERCC6-PGBD3, ERCC6		Cockayne syndrome type 2	Likely pathogenic	criteria provided, single submitter
Select item 88049282.	NM_000124.4(ERCC6):c.1686-12G>A GRCh37: Chr10:50701310 GRCh38: Chr10:49493264	ERCC6		not provided, Age related macular degeneration 5, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 88016883.	NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys) GRCh37: Chr10:50669480 GRCh38: Chr10:49461434	ERCC6	R1301C	not provided, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88006484.	NM_000124.4(ERCC6):c.*246T>C GRCh37: Chr10:50666615 GRCh38: Chr10:49458569	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87986085.	NM_000124.4(ERCC6):c.*2540G>T GRCh37: Chr10:50664321 GRCh38: Chr10:49456275	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 87985986.	NM_000124.4(ERCC6):c.*2602A>G GRCh37: Chr10:50664259 GRCh38: Chr10:49456213	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87981487.	NM_000124.4(ERCC6):c.*3356C>T GRCh37: Chr10:50663505 GRCh38: Chr10:49455459	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87981388.	NM_000124.4(ERCC6):c.*3366G>A GRCh37: Chr10:50663495 GRCh38: Chr10:49455449	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87977289.	NM_000124.4(ERCC6):c.958G>C (p.Val320Leu) GRCh37: Chr10:50732518 GRCh38: Chr10:49524472	ERCC6, ERCC6-PGBD3	V320L	Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87977190.	NM_000124.4(ERCC6):c.*4208A>G GRCh37: Chr10:50662653 GRCh38: Chr10:49454607	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87971291.	NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp) GRCh37: Chr10:50732239 GRCh38: Chr10:49524193	ERCC6, ERCC6-PGBD3, PGBD3	R413W	not specified, not provided, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87964492.	NM_000124.4(ERCC6):c.*813C>T GRCh37: Chr10:50666048 GRCh38: Chr10:49458002	ERCC6		Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 87954493.	NM_000124.4(ERCC6):c.*2031A>G GRCh37: Chr10:50664830 GRCh38: Chr10:49456784	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87949794.	NM_000124.4(ERCC6):c.*2662T>C GRCh37: Chr10:50664199 GRCh38: Chr10:49456153	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87949695.	NM_000124.4(ERCC6):c.*2680A>C GRCh37: Chr10:50664181 GRCh38: Chr10:49456135	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87944996.	NM_000124.4(ERCC6):c.423-9A>C GRCh37: Chr10:50738895 GRCh38: Chr10:49530849	ERCC6, ERCC6-PGBD3		not provided, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 87944897.	NM_000124.4(ERCC6):c.423-7T>C GRCh37: Chr10:50738893 GRCh38: Chr10:49530847	ERCC6, ERCC6-PGBD3		not provided, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Conflicting interpretations of pathogenicity (Sep 10, 2020)	criteria provided, conflicting interpretations
Select item 87944798.	NM_000124.4(ERCC6):c.431C>T (p.Thr144Met) GRCh37: Chr10:50738878 GRCh38: Chr10:49530832	ERCC6	T144M	not provided, Age related macular degeneration 5, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 87944699.	NM_000124.4(ERCC6):c.*3395A>C GRCh37: Chr10:50663466 GRCh38: Chr10:49455420	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 879445100.	NM_000124.4(ERCC6):c.*3684A>G GRCh37: Chr10:50663177 GRCh38: Chr10:49455131	ERCC6		Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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