ClinVar for MedGen (Select 383145) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25725131.	NM_052859.4(RFT1):c.229C>T (p.Arg77Ter) GRCh37: Chr3:53157777 GRCh38: Chr3:53123761	RFT1	R77*	RFT1-congenital disorder of glycosylation	Likely pathogenic	criteria provided, single submitter
Select item 25725062.	NM_052859.4(RFT1):c.1458+5G>A GRCh37: Chr3:53126380 GRCh38: Chr3:53092364	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance	criteria provided, single submitter
Select item 24354183.	NM_052859.4(RFT1):c.1459-2A>G GRCh37: Chr3:53126088 GRCh38: Chr3:53092072	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 24278534.	NM_052859.4(RFT1):c.1375C>T (p.His459Tyr) GRCh37: Chr3:53126468 GRCh38: Chr3:53092452	RFT1	H459Y	RFT1-congenital disorder of glycosylation	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 24271485.	NC_000003.11:g.(?_53155766)_(53156657_?)del GRCh37: Chr3:53155766-53156657	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 24271476.	NC_000003.11:g.(?_53125919)_(53164416_?)dup GRCh37: Chr3:53125919-53164416	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 24271467.	NC_000003.11:g.(?_53133377)_(53133522_?)del GRCh37: Chr3:53133377-53133522	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 24271458.	NC_000003.11:g.(?_52109903)_(53164416_?)del GRCh37: Chr3:52109903-53164416	ITIH1, ALAS1, UQCC5, GLYCTK, ITIH3, PPM1M, STIMATE-MUSTN1, NISCH, GLT8D1, TWF2, TLR9, POC1A, NT5DC2, PHF7, PBRM1, MIRLET7G, STAB1, TNNC1, WDR82, NEK4, SEMA3G, STIMATE, SFMBT1, MUSTN1, RFT1, SPCS1, DNAH1, ITIH4, GNL3, BAP1		RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 24204499.	NM_052859.4(RFT1):c.510C>T (p.Leu170=) GRCh37: Chr3:53155763 GRCh38: Chr3:53121747	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 241876910.	NM_052859.4(RFT1):c.1289G>A (p.Gly430Asp) GRCh37: Chr3:53126554 GRCh38: Chr3:53092538	RFT1	G430D	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 241867311.	NM_052859.4(RFT1):c.1261C>G (p.Leu421Val) GRCh37: Chr3:53126582 GRCh38: Chr3:53092566	RFT1	L421V	RFT1-congenital disorder of glycosylation	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 241699912.	NM_052859.4(RFT1):c.673T>A (p.Leu225Ile) GRCh37: Chr3:53153923 GRCh38: Chr3:53119907	RFT1	L225I	RFT1-congenital disorder of glycosylation	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 241557713.	NM_052859.4(RFT1):c.374T>C (p.Leu125Pro) GRCh37: Chr3:53156472 GRCh38: Chr3:53122456	RFT1	L125P	RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 241530914.	NM_052859.4(RFT1):c.144T>C (p.Asn48=) GRCh37: Chr3:53159930 GRCh38: Chr3:53125914	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 241321115.	NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala) GRCh37: Chr3:53125990 GRCh38: Chr3:53091974	RFT1	T519A	RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 219765816.	NM_052859.4(RFT1):c.501A>G (p.Thr167=) GRCh37: Chr3:53155772 GRCh38: Chr3:53121756	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219417617.	NM_052859.4(RFT1):c.34C>G (p.Arg12Gly) GRCh37: Chr3:53164383 GRCh38: Chr3:53130367	RFT1	R12G	RFT1-congenital disorder of glycosylation	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 219367518.	NM_052859.4(RFT1):c.1103-14T>C GRCh37: Chr3:53133516 GRCh38: Chr3:53099500	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 219258519.	NM_052859.4(RFT1):c.230G>A (p.Arg77Gln) GRCh37: Chr3:53157776 GRCh38: Chr3:53123760	RFT1	R77Q	RFT1-congenital disorder of glycosylation	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 219107920.	NM_052859.4(RFT1):c.335A>C (p.Asp112Ala) GRCh37: Chr3:53156511 GRCh38: Chr3:53122495	RFT1	D112A	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 218793621.	NM_052859.4(RFT1):c.1386G>A (p.Leu462=) GRCh37: Chr3:53126457 GRCh38: Chr3:53092441	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 218708922.	NM_052859.4(RFT1):c.1348A>G (p.Ile450Val) GRCh37: Chr3:53126495 GRCh38: Chr3:53092479	RFT1	I450V	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 218591523.	NM_052859.4(RFT1):c.173C>T (p.Thr58Ile) GRCh37: Chr3:53157833 GRCh38: Chr3:53123817	RFT1	T58I	RFT1-congenital disorder of glycosylation	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 217160224.	NM_052859.4(RFT1):c.56T>G (p.Leu19Arg) GRCh37: Chr3:53164361 GRCh38: Chr3:53130345	RFT1	L19R	RFT1-congenital disorder of glycosylation	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 216060925.	NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser) GRCh37: Chr3:53126065 GRCh38: Chr3:53092049	RFT1	G494S	RFT1-congenital disorder of glycosylation	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 215743926.	NM_052859.4(RFT1):c.1416C>T (p.Leu472=) GRCh37: Chr3:53126427 GRCh38: Chr3:53092411	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 214960427.	NM_052859.4(RFT1):c.272C>T (p.Pro91Leu) GRCh37: Chr3:53156574 GRCh38: Chr3:53122558	RFT1	P91L	RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 214668128.	NM_052859.4(RFT1):c.54C>T (p.Leu18=) GRCh37: Chr3:53164363 GRCh38: Chr3:53130347	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 214427929.	NM_052859.4(RFT1):c.208T>C (p.Cys70Arg) GRCh37: Chr3:53157798 GRCh38: Chr3:53123782	RFT1	C70R	RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 214427030.	NM_052859.4(RFT1):c.904A>G (p.Ile302Val) GRCh37: Chr3:53139742 GRCh38: Chr3:53105726	RFT1	I302V	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 213290331.	NM_052859.4(RFT1):c.973G>A (p.Ala325Thr) GRCh37: Chr3:53138098 GRCh38: Chr3:53104082	RFT1	A325T	RFT1-congenital disorder of glycosylation	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212860632.	NM_052859.4(RFT1):c.634A>G (p.Lys212Glu) GRCh37: Chr3:53153962 GRCh38: Chr3:53119946	RFT1	K212E	RFT1-congenital disorder of glycosylation	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 212810533.	NM_052859.4(RFT1):c.64-3T>C GRCh37: Chr3:53160013 GRCh38: Chr3:53125997	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212468434.	NM_052859.4(RFT1):c.775+20G>C GRCh37: Chr3:53145826 GRCh38: Chr3:53111810	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212325435.	NM_052859.4(RFT1):c.150-1G>C GRCh37: Chr3:53157857 GRCh38: Chr3:53123841	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212031436.	NM_052859.4(RFT1):c.1424T>G (p.Phe475Cys) GRCh37: Chr3:53126419 GRCh38: Chr3:53092403	RFT1	F475C	RFT1-congenital disorder of glycosylation	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211480937.	NM_052859.4(RFT1):c.1458+15G>C GRCh37: Chr3:53126370 GRCh38: Chr3:53092354	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 211452238.	NM_052859.4(RFT1):c.958-9T>G GRCh37: Chr3:53138122 GRCh38: Chr3:53104106	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 211144439.	NM_052859.4(RFT1):c.1226T>C (p.Leu409Pro) GRCh37: Chr3:53126617 GRCh38: Chr3:53092601	RFT1	L409P	RFT1-congenital disorder of glycosylation	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 211000240.	NM_052859.4(RFT1):c.658A>G (p.Arg220Gly) GRCh37: Chr3:53153938 GRCh38: Chr3:53119922	RFT1	R220G	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 210743241.	NM_052859.4(RFT1):c.620C>G (p.Ser207Cys) GRCh37: Chr3:53153976 GRCh38: Chr3:53119960	RFT1	S207C	RFT1-congenital disorder of glycosylation	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 210611442.	NM_052859.4(RFT1):c.1063C>G (p.Leu355Val) GRCh37: Chr3:53138008 GRCh38: Chr3:53103992	RFT1	L355V	RFT1-congenital disorder of glycosylation	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210359343.	NM_052859.4(RFT1):c.1381C>A (p.Pro461Thr) GRCh37: Chr3:53126462 GRCh38: Chr3:53092446	RFT1	P461T	RFT1-congenital disorder of glycosylation	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 209458944.	NM_052859.4(RFT1):c.730T>A (p.Trp244Arg) GRCh37: Chr3:53145891 GRCh38: Chr3:53111875	RFT1	W244R	RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 209241845.	NM_052859.4(RFT1):c.4G>C (p.Gly2Arg) GRCh37: Chr3:53164413 GRCh38: Chr3:53130397	RFT1	G2R	RFT1-congenital disorder of glycosylation	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 209174346.	NM_052859.4(RFT1):c.58C>T (p.Leu20=) GRCh37: Chr3:53164359 GRCh38: Chr3:53130343	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209139547.	NM_052859.4(RFT1):c.1052C>G (p.Ser351Cys) GRCh37: Chr3:53138019 GRCh38: Chr3:53104003	RFT1	S351C	RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 208993948.	NM_052859.4(RFT1):c.173C>A (p.Thr58Asn) GRCh37: Chr3:53157833 GRCh38: Chr3:53123817	RFT1	T58N	RFT1-congenital disorder of glycosylation	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 208699549.	NM_052859.4(RFT1):c.1459-14G>A GRCh37: Chr3:53126100 GRCh38: Chr3:53092084	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 208347250.	NM_052859.4(RFT1):c.566A>G (p.Tyr189Cys) GRCh37: Chr3:53154030 GRCh38: Chr3:53120014	RFT1	Y189C	RFT1-congenital disorder of glycosylation	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 208225651.	NM_052859.4(RFT1):c.1433G>C (p.Ser478Thr) GRCh37: Chr3:53126410 GRCh38: Chr3:53092394	RFT1	S478T	RFT1-congenital disorder of glycosylation	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 208190952.	NM_052859.4(RFT1):c.49G>A (p.Gly17Ser) GRCh37: Chr3:53164368 GRCh38: Chr3:53130352	RFT1	G17S	RFT1-congenital disorder of glycosylation	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 207443953.	NM_052859.4(RFT1):c.1071C>G (p.Ile357Met) GRCh37: Chr3:53138000 GRCh38: Chr3:53103984	RFT1	I357M	RFT1-congenital disorder of glycosylation	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 207396754.	NM_052859.4(RFT1):c.1271G>A (p.Arg424His) GRCh37: Chr3:53126572 GRCh38: Chr3:53092556	RFT1	R424H	Inborn genetic diseases, RFT1-congenital disorder of glycosylation	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206976655.	NM_052859.4(RFT1):c.63+3A>G GRCh37: Chr3:53164351 GRCh38: Chr3:53130335	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 206930756.	NM_052859.4(RFT1):c.775+3A>G GRCh37: Chr3:53145843 GRCh38: Chr3:53111827	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 205382457.	NM_052859.4(RFT1):c.954G>A (p.Lys318=) GRCh37: Chr3:53139692 GRCh38: Chr3:53105676	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 205221858.	NM_052859.4(RFT1):c.292T>A (p.Leu98Ile) GRCh37: Chr3:53156554 GRCh38: Chr3:53122538	RFT1	L98I	RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 203726859.	NM_052859.4(RFT1):c.1208+3G>A GRCh37: Chr3:53133394 GRCh38: Chr3:53099378	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 203146160.	NM_052859.4(RFT1):c.1458+16C>T GRCh37: Chr3:53126369 GRCh38: Chr3:53092353	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 202475861.	NM_052859.4(RFT1):c.1446dup (p.Ala483fs) GRCh37: Chr3:53126396-53126397 GRCh38: Chr3:53092380-53092381	RFT1	A483fs	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 200245762.	NM_052859.4(RFT1):c.1209-18T>C GRCh37: Chr3:53126652 GRCh38: Chr3:53092636	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 199849263.	NM_052859.4(RFT1):c.1597G>T (p.Val533Leu) GRCh37: Chr3:53125948 GRCh38: Chr3:53091932	RFT1	V533L	RFT1-congenital disorder of glycosylation	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199809064.	NM_052859.4(RFT1):c.18G>T (p.Val6=) GRCh37: Chr3:53164399 GRCh38: Chr3:53130383	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 199695465.	NM_052859.4(RFT1):c.646C>T (p.Leu216Phe) GRCh37: Chr3:53153950 GRCh38: Chr3:53119934	RFT1	L216F	RFT1-congenital disorder of glycosylation	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 199528666.	NM_052859.4(RFT1):c.1521C>G (p.Phe507Leu) GRCh37: Chr3:53126024 GRCh38: Chr3:53092008	RFT1	F507L	RFT1-congenital disorder of glycosylation	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 199014067.	NM_052859.4(RFT1):c.1608C>G (p.Arg536=) GRCh37: Chr3:53125937 GRCh38: Chr3:53091921	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 199003568.	NM_052859.4(RFT1):c.519G>C (p.Trp173Cys) GRCh37: Chr3:53155754 GRCh38: Chr3:53121738	RFT1	W173C	RFT1-congenital disorder of glycosylation	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 198975269.	NM_052859.4(RFT1):c.886A>G (p.Ile296Val) GRCh37: Chr3:53139760 GRCh38: Chr3:53105744	RFT1	I296V	RFT1-congenital disorder of glycosylation	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 198901770.	NM_052859.4(RFT1):c.511G>C (p.Val171Leu) GRCh37: Chr3:53155762 GRCh38: Chr3:53121746	RFT1	V171L	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 198710471.	NM_052859.4(RFT1):c.945A>G (p.Thr315=) GRCh37: Chr3:53139701 GRCh38: Chr3:53105685	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 197798272.	NM_052859.4(RFT1):c.1236CTC[1] (p.Ser414del) GRCh37: Chr3:53126602-53126604 GRCh38: Chr3:53092586-53092588	RFT1	S414del	RFT1-congenital disorder of glycosylation	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 197520673.	NM_052859.4(RFT1):c.957+1G>A GRCh37: Chr3:53139688 GRCh38: Chr3:53105672	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 197142174.	NM_052859.4(RFT1):c.558G>T (p.Gln186His) GRCh37: Chr3:53155715 GRCh38: Chr3:53121699	RFT1	Q186H	RFT1-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 197050275.	NM_052859.4(RFT1):c.631A>G (p.Thr211Ala) GRCh37: Chr3:53153965 GRCh38: Chr3:53119949	RFT1	T211A	RFT1-congenital disorder of glycosylation	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 196583376.	NM_052859.4(RFT1):c.34C>T (p.Arg12Trp) GRCh37: Chr3:53164383 GRCh38: Chr3:53130367	RFT1	R12W	RFT1-congenital disorder of glycosylation	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 196534677.	NM_052859.4(RFT1):c.1208+11T>C GRCh37: Chr3:53133386 GRCh38: Chr3:53099370	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 196262278.	NM_052859.4(RFT1):c.1208+7A>G GRCh37: Chr3:53133390 GRCh38: Chr3:53099374	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 196207879.	NM_052859.4(RFT1):c.343G>A (p.Val115Ile) GRCh37: Chr3:53156503 GRCh38: Chr3:53122487	RFT1	V115I	RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 195901480.	NM_052859.4(RFT1):c.273C>G (p.Pro91=) GRCh37: Chr3:53156573 GRCh38: Chr3:53122557	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 195843381.	NM_052859.4(RFT1):c.1175C>T (p.Thr392Ile) GRCh37: Chr3:53133430 GRCh38: Chr3:53099414	RFT1	T392I	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 194935082.	NM_052859.4(RFT1):c.762G>A (p.Gln254=) GRCh37: Chr3:53145859 GRCh38: Chr3:53111843	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 194485783.	NM_052859.4(RFT1):c.275del (p.Leu92fs) GRCh37: Chr3:53156571 GRCh38: Chr3:53122555	RFT1	L92fs	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 194202484.	NM_052859.4(RFT1):c.1570A>T (p.Ile524Phe) GRCh37: Chr3:53125975 GRCh38: Chr3:53091959	RFT1	I524F	RFT1-congenital disorder of glycosylation	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 194184885.	NM_052859.4(RFT1):c.267-5T>A GRCh37: Chr3:53156584 GRCh38: Chr3:53122568	RFT1		RFT1-congenital disorder of glycosylation	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 192625286.	NM_052859.4(RFT1):c.997C>T (p.Leu333Phe) GRCh37: Chr3:53138074 GRCh38: Chr3:53104058	RFT1	L333F	RFT1-congenital disorder of glycosylation	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 192574687.	NM_052859.4(RFT1):c.405A>G (p.Leu135=) GRCh37: Chr3:53156441 GRCh38: Chr3:53122425	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 192535988.	NM_052859.4(RFT1):c.63+11C>A GRCh37: Chr3:53164343 GRCh38: Chr3:53130327	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 192175789.	NM_052859.4(RFT1):c.826+16G>A GRCh37: Chr3:53140819 GRCh38: Chr3:53106803	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 192102190.	NM_052859.4(RFT1):c.153A>G (p.Leu51=) GRCh37: Chr3:53157853 GRCh38: Chr3:53123837	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 191816191.	NM_052859.4(RFT1):c.744A>G (p.Lys248=) GRCh37: Chr3:53145877 GRCh38: Chr3:53111861	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 190292592.	NM_052859.4(RFT1):c.1294A>G (p.Ile432Val) GRCh37: Chr3:53126549 GRCh38: Chr3:53092533	RFT1	I432V	RFT1-congenital disorder of glycosylation	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 190226393.	NM_052859.4(RFT1):c.49G>C (p.Gly17Arg) GRCh37: Chr3:53164368 GRCh38: Chr3:53130352	RFT1	G17R	RFT1-congenital disorder of glycosylation	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 189752894.	NM_052859.4(RFT1):c.249C>T (p.Leu83=) GRCh37: Chr3:53157757 GRCh38: Chr3:53123741	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 171655995.	NM_052859.4(RFT1):c.1413_1414delinsTT (p.Leu472Phe) GRCh37: Chr3:53126429-53126430 GRCh38: Chr3:53092413-53092414	RFT1	L472F	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 171586796.	NM_052859.4(RFT1):c.145G>A (p.Val49Ile) GRCh37: Chr3:53159929 GRCh38: Chr3:53125913	RFT1	V49I	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 171484797.	NM_052859.4(RFT1):c.840A>G (p.Ile280Met) GRCh37: Chr3:53139806 GRCh38: Chr3:53105790	RFT1	I280M	RFT1-congenital disorder of glycosylation	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 171342298.	NM_052859.4(RFT1):c.463G>A (p.Ala155Thr) GRCh37: Chr3:53155810 GRCh38: Chr3:53121794	RFT1	A155T	RFT1-congenital disorder of glycosylation	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 169913799.	NM_052859.4(RFT1):c.109C>T (p.Arg37Cys) GRCh37: Chr3:53159965 GRCh38: Chr3:53125949	RFT1	R37C	Inborn genetic diseases, RFT1-congenital disorder of glycosylation	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1670970100.	NM_052859.4(RFT1):c.1479G>A (p.Gln493=) GRCh37: Chr3:53126066 GRCh38: Chr3:53092050	RFT1		RFT1-congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter

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