ClinVar for MedGen (Select 120612) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25035141.	NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met) GRCh37: Chr16:14029451 GRCh38: Chr16:13935594	ERCC4	I554M	Xeroderma pigmentosum, group F	Uncertain significance (Mar 31, 2023)	criteria provided, single submitter
Select item 24448772.	NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp) GRCh37: Chr16:14020505 GRCh38: Chr16:13926648	ERCC4	G159D	Xeroderma pigmentosum, group F	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24448713.	NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg) GRCh37: Chr16:14024735 GRCh38: Chr16:13930878	ERCC4	G321R	Xeroderma pigmentosum, group F	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 24253294.	NC_000016.9:g.(?_14020398)_(14022112_?)del GRCh37: Chr16:14020398-14022112	ERCC4		Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Pathogenic (Jul 10, 2022)	criteria provided, single submitter
Select item 24253285.	NC_000016.9:g.(?_14031613)_(14031725_?)del GRCh37: Chr16:14031613-14031725	ERCC4		Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 24253276.	NC_000016.9:g.(?_14038570)_(14038702_?)del GRCh37: Chr16:14038570-14038702	ERCC4		Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Pathogenic (Sep 29, 2022)	criteria provided, single submitter
Select item 24178227.	NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe) GRCh37: Chr16:14038598-14038599 GRCh38: Chr16:13944741-13944742	ERCC4	V642F	Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 24160158.	NM_005236.3(ERCC4):c.458G>A (p.Arg153His) GRCh37: Chr16:14020487 GRCh38: Chr16:13926630	ERCC4	R153H	Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 24152039.	NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys) GRCh37: Chr16:14041992 GRCh38: Chr16:13948135	ERCC4	G847C	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 241472810.	NM_005236.3(ERCC4):c.1102+20C>T GRCh37: Chr16:14026162 GRCh38: Chr16:13932305	ERCC4		Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 220174311.	NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln) GRCh37: Chr16:14041528 GRCh38: Chr16:13947671	ERCC4	R692Q	Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 220121312.	NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys) GRCh37: Chr16:14031667 GRCh38: Chr16:13937810	ERCC4	Y619C	Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 219831413.	NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met) GRCh37: Chr16:14042107 GRCh38: Chr16:13948250	ERCC4	T885M	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 219806814.	NM_005236.3(ERCC4):c.1071A>T (p.Ile357=) GRCh37: Chr16:14026111 GRCh38: Chr16:13932254	ERCC4		Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 219481315.	NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg) GRCh37: Chr16:14041770 GRCh38: Chr16:13947913	ERCC4	G773R	Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 219103816.	NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys) GRCh37: Chr16:14024698 GRCh38: Chr16:13930841	ERCC4	N308K	Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 218740117.	NM_005236.3(ERCC4):c.1983A>T (p.Ala661=) GRCh37: Chr16:14038658 GRCh38: Chr16:13944801	ERCC4		Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 218151018.	NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter) GRCh37: Chr16:14024646 GRCh38: Chr16:13930789	ERCC4	L291*	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 217789019.	NM_005236.3(ERCC4):c.1213+8A>G GRCh37: Chr16:14028167 GRCh38: Chr16:13934310	ERCC4		Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 217727920.	NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro) GRCh37: Chr16:14041822 GRCh38: Chr16:13947965	ERCC4	L790P	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 217703421.	NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu) GRCh37: Chr16:14042094 GRCh38: Chr16:13948237	ERCC4	Q881E	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 217686322.	NM_005236.3(ERCC4):c.871T>C (p.Leu291=) GRCh37: Chr16:14024645 GRCh38: Chr16:13930788	ERCC4		Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 217453623.	NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr) GRCh37: Chr16:14014221 GRCh38: Chr16:13920364	ERCC4	A67T	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 217362924.	NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr) GRCh37: Chr16:14022036 GRCh38: Chr16:13928179	ERCC4	S246T	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 217183425.	NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys) GRCh37: Chr16:14041705 GRCh38: Chr16:13947848	ERCC4	Y751C	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 217038426.	NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu) GRCh37: Chr16:14031664 GRCh38: Chr16:13937807	ERCC4	R618L	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 216770027.	NM_005236.3(ERCC4):c.114G>A (p.Gly38=) GRCh37: Chr16:14014136 GRCh38: Chr16:13920279	ERCC4, LOC130058543		Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 216728728.	NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys) GRCh37: Chr16:14015888 GRCh38: Chr16:13922031	ERCC4	E70K	Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 216597129.	NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln) GRCh37: Chr16:14029128 GRCh38: Chr16:13935271	ERCC4	E447Q	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 216533230.	NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val) GRCh37: Chr16:14029576 GRCh38: Chr16:13935719	ERCC4	A596V	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 216443831.	NM_005236.3(ERCC4):c.1689C>G (p.Pro563=) GRCh37: Chr16:14029478 GRCh38: Chr16:13935621	ERCC4		Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 216429432.	NM_005236.3(ERCC4):c.532G>A (p.Val178Met) GRCh37: Chr16:14020561 GRCh38: Chr16:13926704	ERCC4	V178M	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 216116333.	NM_005236.3(ERCC4):c.1351A>G (p.Met451Val) GRCh37: Chr16:14029140 GRCh38: Chr16:13935283	ERCC4	M451V	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 215892334.	NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly) GRCh37: Chr16:14029411 GRCh38: Chr16:13935554	ERCC4	D541G	Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 215156235.	NM_005236.3(ERCC4):c.68del (p.Val23fs) GRCh37: Chr16:14014090 GRCh38: Chr16:13920233	ERCC4, LOC130058543	V23fs	Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 214931336.	NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val) GRCh37: Chr16:14042086 GRCh38: Chr16:13948229	ERCC4	A878V	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 214570337.	NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn) GRCh37: Chr16:14029348 GRCh38: Chr16:13935491	ERCC4	S520N	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 214428538.	NM_005236.3(ERCC4):c.34A>G (p.Met12Val) GRCh37: Chr16:14014056 GRCh38: Chr16:13920199	ERCC4, LOC130058543	M12V	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 214313239.	NM_005236.3(ERCC4):c.1003A>G (p.Met335Val) GRCh37: Chr16:14026043 GRCh38: Chr16:13932186	ERCC4	M335V	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 214264340.	NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg) GRCh37: Chr16:14042202 GRCh38: Chr16:13948345	ERCC4		Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 214160941.	NM_005236.3(ERCC4):c.2018-19A>T GRCh37: Chr16:14041452 GRCh38: Chr16:13947595	ERCC4		Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 213323842.	NM_005236.3(ERCC4):c.1497A>G (p.Gly499=) GRCh37: Chr16:14029286 GRCh38: Chr16:13935429	ERCC4		Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213086543.	NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg) GRCh37: Chr16:14015993 GRCh38: Chr16:13922136	ERCC4	G105R	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 211102744.	NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp) GRCh37: Chr16:14020579 GRCh38: Chr16:13926722	ERCC4	N184D	Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 210638645.	NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser) GRCh37: Chr16:14016016 GRCh38: Chr16:13922159	ERCC4	R112S	Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210447046.	NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val) GRCh37: Chr16:14041944 GRCh38: Chr16:13948087	ERCC4	I831V	Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 210246247.	NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu) GRCh37: Chr16:14041576 GRCh38: Chr16:13947719	ERCC4	P708L	Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 209688948.	NM_005236.3(ERCC4):c.20C>T (p.Ala7Val) GRCh37: Chr16:14014042 GRCh38: Chr16:13920185	ERCC4, LOC130058543	A7V	Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 208783349.	NM_005236.3(ERCC4):c.167C>T (p.Ala56Val) GRCh37: Chr16:14014189 GRCh38: Chr16:13920332	ERCC4, LOC130058543	A56V	Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 208749850.	NM_005236.3(ERCC4):c.1317C>T (p.Thr439=) GRCh37: Chr16:14029106 GRCh38: Chr16:13935249	ERCC4		Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 208493551.	NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg) GRCh37: Chr16:14029422 GRCh38: Chr16:13935565	ERCC4	G545R	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 208142352.	NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala) GRCh37: Chr16:14029135 GRCh38: Chr16:13935278	ERCC4	V449A	Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 207753353.	NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala) GRCh37: Chr16:14029552 GRCh38: Chr16:13935695	ERCC4	V588A	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q, Inborn genetic diseases, Fanconi anemia complementation group Q	Uncertain significance (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 207638254.	NM_005236.3(ERCC4):c.96A>G (p.Leu32=) GRCh37: Chr16:14014118 GRCh38: Chr16:13920261	ERCC4, LOC130058543		Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 207616055.	NM_005236.3(ERCC4):c.1214-10C>A GRCh37: Chr16:14028993 GRCh38: Chr16:13935136	ERCC4		Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 207475356.	NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile) GRCh37: Chr16:14029551 GRCh38: Chr16:13935694	ERCC4	V588I	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q, Inborn genetic diseases, not provided, Fanconi anemia complementation group Q	Uncertain significance (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 207329857.	NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys) GRCh37: Chr16:14029155 GRCh38: Chr16:13935298	ERCC4	E456K	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 207284458.	NM_005236.3(ERCC4):c.208-3T>G GRCh37: Chr16:14015885 GRCh38: Chr16:13922028	ERCC4		Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 206754459.	NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val) GRCh37: Chr16:14041830 GRCh38: Chr16:13947973	ERCC4	L793V	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (Oct 15, 2022)	criteria provided, single submitter
Select item 206079560.	NM_005236.3(ERCC4):c.1429C>A (p.Arg477=) GRCh37: Chr16:14029218 GRCh38: Chr16:13935361	ERCC4		Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 205994661.	NM_005236.3(ERCC4):c.2T>G (p.Met1Arg) GRCh37: Chr16:14014024 GRCh38: Chr16:13920167	ERCC4, LOC130058543	M1R	Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 205511962.	NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu) GRCh37: Chr16:14029594 GRCh38: Chr16:13935737	ERCC4	P602L	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q, Inborn genetic diseases	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205306763.	NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn) GRCh37: Chr16:14038675 GRCh38: Chr16:13944818	ERCC4	T667N	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome, Inborn genetic diseases	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204971864.	NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu) GRCh37: Chr16:14022076 GRCh38: Chr16:13928219	ERCC4	G259E	Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 204877865.	NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln) GRCh37: Chr16:14041902 GRCh38: Chr16:13948045	ERCC4	K817Q	Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 204877666.	NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys) GRCh37: Chr16:14041900-14041901 GRCh38: Chr16:13948043-13948044	ERCC4		Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 204871667.	NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs) GRCh37: Chr16:14029230-14029233 GRCh38: Chr16:13935373-13935376	ERCC4	R483fs	Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 204776068.	NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys) GRCh37: Chr16:14031663 GRCh38: Chr16:13937806	ERCC4	R618C	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 204622369.	NM_005236.3(ERCC4):c.1062A>G (p.Lys354=) GRCh37: Chr16:14026102 GRCh38: Chr16:13932245	ERCC4		Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 204235470.	NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe) GRCh37: Chr16:14042103 GRCh38: Chr16:13948246	ERCC4	L884F	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 203851571.	NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu) GRCh37: Chr16:14041515 GRCh38: Chr16:13947658	ERCC4	M688L	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 203710372.	NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe) GRCh37: Chr16:14026025 GRCh38: Chr16:13932168	ERCC4	L329F	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 203362973.	NM_005236.3(ERCC4):c.1905-20G>C GRCh37: Chr16:14038560 GRCh38: Chr16:13944703	ERCC4		Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 203103674.	NM_005236.3(ERCC4):c.2640A>G (p.Ser880=) GRCh37: Chr16:14042093 GRCh38: Chr16:13948236	ERCC4		Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum, group F	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 202974275.	NM_005236.3(ERCC4):c.1620G>T (p.Ser540=) GRCh37: Chr16:14029409 GRCh38: Chr16:13935552	ERCC4		Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 202959476.	NM_005236.3(ERCC4):c.685A>G (p.Ile229Val) GRCh37: Chr16:14021985 GRCh38: Chr16:13928128	ERCC4	I229V	Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 202328977.	NM_005236.3(ERCC4):c.2724C>G (p.Val908=) GRCh37: Chr16:14042177 GRCh38: Chr16:13948320	ERCC4		Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 201914678.	NM_005236.3(ERCC4):c.2017+19del GRCh37: Chr16:14038711 GRCh38: Chr16:13944854	ERCC4		Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 201344079.	NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg) GRCh37: Chr16:14042065 GRCh38: Chr16:13948208	ERCC4	K871R	Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201011280.	NM_005236.3(ERCC4):c.973+17C>T GRCh37: Chr16:14024764 GRCh38: Chr16:13930907	ERCC4		Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 200532181.	NM_005236.3(ERCC4):c.529C>T (p.His177Tyr) GRCh37: Chr16:14020558 GRCh38: Chr16:13926701	ERCC4	H177Y	Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F, Cockayne syndrome	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 200060982.	NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala) GRCh37: Chr16:14042160 GRCh38: Chr16:13948303	ERCC4	T903A	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 199387583.	NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val) GRCh37: Chr16:14028094 GRCh38: Chr16:13934237	ERCC4	A383V	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 199342784.	NM_005236.3(ERCC4):c.207+16C>G GRCh37: Chr16:14014245 GRCh38: Chr16:13920388	ERCC4		Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 198854085.	NM_005236.3(ERCC4):c.327G>A (p.Ala109=) GRCh37: Chr16:14016007 GRCh38: Chr16:13922150	ERCC4		Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 198475086.	NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys) GRCh37: Chr16:14041958-14041959 GRCh38: Chr16:13948101-13948102	ERCC4	E836K	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 197655287.	NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala) GRCh37: Chr16:14038674 GRCh38: Chr16:13944817	ERCC4	T667A	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 197266488.	NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=) GRCh37: Chr16:14029532 GRCh38: Chr16:13935675	ERCC4		Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 197015289.	NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val) GRCh37: Chr16:14029483 GRCh38: Chr16:13935626	ERCC4	A565V	Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q, Cockayne syndrome	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 195995690.	NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala) GRCh37: Chr16:14031694 GRCh38: Chr16:13937837	ERCC4	E628A	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 195983991.	NM_005236.3(ERCC4):c.981G>A (p.Leu327=) GRCh37: Chr16:14026021 GRCh38: Chr16:13932164	ERCC4		Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 195735992.	NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe) GRCh37: Chr16:14031628 GRCh38: Chr16:13937771	ERCC4	Y606F	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q, Inborn genetic diseases	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194326793.	NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly) GRCh37: Chr16:14014047 GRCh38: Chr16:13920190	ERCC4, LOC130058543	R9G	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 193895094.	NM_005236.3(ERCC4):c.409C>G (p.His137Asp) GRCh37: Chr16:14020438 GRCh38: Chr16:13926581	ERCC4	H137D	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 193794895.	NM_005236.3(ERCC4):c.321A>G (p.Ile107Met) GRCh37: Chr16:14016001 GRCh38: Chr16:13922144	ERCC4	I107M	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 193045796.	NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe) GRCh37: Chr16:14038672 GRCh38: Chr16:13944815	ERCC4	S666F	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 192494297.	NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg) GRCh37: Chr16:14020460 GRCh38: Chr16:13926603	ERCC4	Q144R	Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 192106298.	NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro) GRCh37: Chr16:14014128 GRCh38: Chr16:13920271	ERCC4, LOC130058543	A36P	Cockayne syndrome, Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 191623999.	NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp) GRCh37: Chr16:14041557 GRCh38: Chr16:13947700	ERCC4	R702W	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 1908155100.	NM_005236.3(ERCC4):c.317T>G (p.Val106Gly) GRCh37: Chr16:14015997 GRCh38: Chr16:13922140	ERCC4	V106G	Xeroderma pigmentosum, group F, Cockayne syndrome, Fanconi anemia complementation group Q	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter

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