ClinVar for MedGen (Select 370709) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25722331.	NM_152594.3(SPRED1):c.867dup (p.Ser290fs) GRCh37: Chr15:38643391-38643392 GRCh38: Chr15:38351190-38351191	SPRED1	S290fs	Legius syndrome	Likely pathogenic (May 22, 2023)	criteria provided, single submitter
Select item 24449022.	NM_152594.3(SPRED1):c.424G>T (p.Ala142Ser) GRCh37: Chr15:38631938 GRCh38: Chr15:38339737	SPRED1	A142S	Legius syndrome	Uncertain significance (Nov 29, 2022)	criteria provided, single submitter
Select item 24441913.	NM_152594.3(SPRED1):c.521_522dup (p.Pro175fs) GRCh37: Chr15:38632033-38632034 GRCh38: Chr15:38339832-38339833	SPRED1	P175fs	Legius syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24363184.	NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala) GRCh37: Chr15:38643426 GRCh38: Chr15:38351225	SPRED1	E299A	Legius syndrome	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 24363175.	NM_152594.3(SPRED1):c.685G>A (p.Val229Ile) GRCh37: Chr15:38643215 GRCh38: Chr15:38351014	SPRED1	V229I	Legius syndrome	Uncertain significance (Oct 30, 2021)	criteria provided, single submitter
Select item 24273976.	NC_000015.9:g.(?_38545387)_(38545438_?)del GRCh37: Chr15:38545387-38545438	SPRED1		Legius syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 24273967.	NC_000015.9:g.(?_38591554)_(38643865_?)dup GRCh37: Chr15:38591554-38643865	SPRED1		Legius syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 24273958.	NC_000015.9:g.(?_38545387)_(38591768_?)dup GRCh37: Chr15:38545387-38591768	SPRED1		Legius syndrome	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 24273949.	NC_000015.9:g.(?_38614422)_(38617030_?)del GRCh37: Chr15:38614422-38617030	SPRED1		Legius syndrome	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 242092610.	NM_152594.3(SPRED1):c.386A>T (p.Glu129Val) GRCh37: Chr15:38616973 GRCh38: Chr15:38324772	SPRED1	E129V	Legius syndrome	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 241482211.	NM_152594.3(SPRED1):c.685-13G>A GRCh37: Chr15:38643202 GRCh38: Chr15:38351001	SPRED1		Legius syndrome	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 220233612.	NM_152594.3(SPRED1):c.69C>T (p.Thr23=) GRCh37: Chr15:38591610 GRCh38: Chr15:38299409	SPRED1		Legius syndrome	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 219962513.	NM_152594.3(SPRED1):c.319G>A (p.Ala107Thr) GRCh37: Chr15:38614553 GRCh38: Chr15:38322352	SPRED1	A107T	Legius syndrome	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 219953514.	NM_152594.3(SPRED1):c.300T>C (p.Gly100=) GRCh37: Chr15:38614534 GRCh38: Chr15:38322333	SPRED1		Legius syndrome	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 219691615.	NM_152594.3(SPRED1):c.376+4G>A GRCh37: Chr15:38614614 GRCh38: Chr15:38322413	SPRED1		Legius syndrome	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 219608516.	NM_152594.3(SPRED1):c.1245A>G (p.Pro415=) GRCh37: Chr15:38643775 GRCh38: Chr15:38351574	SPRED1		Legius syndrome, Cardiovascular phenotype	Likely benign (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219433317.	NM_152594.3(SPRED1):c.1199T>A (p.Phe400Tyr) GRCh37: Chr15:38643729 GRCh38: Chr15:38351528	SPRED1	F400Y	Legius syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 219358118.	NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter) GRCh37: Chr15:38643737 GRCh38: Chr15:38351536	SPRED1	R403*	Legius syndrome	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 219344419.	NM_152594.3(SPRED1):c.408G>T (p.Gly136=) GRCh37: Chr15:38616995 GRCh38: Chr15:38324794	SPRED1		Legius syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 219299920.	NM_152594.3(SPRED1):c.519A>G (p.Ile173Met) GRCh37: Chr15:38632033 GRCh38: Chr15:38339832	SPRED1	I173M	Legius syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 219168921.	NM_152594.3(SPRED1):c.1089A>G (p.Ile363Met) GRCh37: Chr15:38643619 GRCh38: Chr15:38351418	SPRED1	I363M	Legius syndrome	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 218948322.	NM_152594.3(SPRED1):c.47G>T (p.Arg16Leu) GRCh37: Chr15:38591588 GRCh38: Chr15:38299387	SPRED1	R16L	Legius syndrome	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 218698023.	NM_152594.3(SPRED1):c.649T>G (p.Ser217Ala) GRCh37: Chr15:38641689 GRCh38: Chr15:38349488	SPRED1	S217A	Legius syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 218364324.	NM_152594.3(SPRED1):c.235G>T (p.Asp79Tyr) GRCh37: Chr15:38614469 GRCh38: Chr15:38322268	SPRED1	D79Y	Legius syndrome	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 218223925.	NM_152594.3(SPRED1):c.287A>C (p.Asp96Ala) GRCh37: Chr15:38614521 GRCh38: Chr15:38322320	SPRED1	D96A	Legius syndrome	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 217880926.	NM_152594.3(SPRED1):c.564_565delinsAA (p.Met188_Gln189delinsIleLys) GRCh37: Chr15:38632078-38632079 GRCh38: Chr15:38339877-38339878	SPRED1		Legius syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 217694727.	NM_152594.3(SPRED1):c.32+18C>T GRCh37: Chr15:38545436 GRCh38: Chr15:38253235	SPRED1		Legius syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 217388028.	NM_152594.3(SPRED1):c.1119G>C (p.Glu373Asp) GRCh37: Chr15:38643649 GRCh38: Chr15:38351448	SPRED1	E373D	Legius syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 217031329.	NM_152594.3(SPRED1):c.1172G>C (p.Cys391Ser) GRCh37: Chr15:38643702 GRCh38: Chr15:38351501	SPRED1	C391S	Legius syndrome	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 216884930.	NM_152594.3(SPRED1):c.1027A>G (p.Asn343Asp) GRCh37: Chr15:38643557 GRCh38: Chr15:38351356	SPRED1	N343D	Legius syndrome	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 216862431.	NM_152594.3(SPRED1):c.706C>T (p.His236Tyr) GRCh37: Chr15:38643236 GRCh38: Chr15:38351035	SPRED1	H236Y	Legius syndrome	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 216773732.	NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro) GRCh37: Chr15:38643677 GRCh38: Chr15:38351476	SPRED1	S383P	Cardiovascular phenotype, Legius syndrome	Uncertain significance (May 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216305033.	NM_152594.3(SPRED1):c.758T>C (p.Ile253Thr) GRCh37: Chr15:38643288 GRCh38: Chr15:38351087	SPRED1	I253T	Legius syndrome	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 216243434.	NM_152594.3(SPRED1):c.1225G>A (p.Ala409Thr) GRCh37: Chr15:38643755 GRCh38: Chr15:38351554	SPRED1	A409T	Legius syndrome	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 215907535.	NM_152594.3(SPRED1):c.1067C>A (p.Pro356Gln) GRCh37: Chr15:38643597 GRCh38: Chr15:38351396	SPRED1	P356Q	Legius syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 215907436.	NM_152594.3(SPRED1):c.1065T>C (p.Ala355=) GRCh37: Chr15:38643595 GRCh38: Chr15:38351394	SPRED1		Legius syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 215892137.	NM_152594.3(SPRED1):c.423+10G>T GRCh37: Chr15:38617020 GRCh38: Chr15:38324819	SPRED1		Legius syndrome	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 215865138.	NM_152594.3(SPRED1):c.1185T>C (p.Thr395=) GRCh37: Chr15:38643715 GRCh38: Chr15:38351514	SPRED1		Legius syndrome	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 215844639.	NM_152594.3(SPRED1):c.1011C>T (p.Tyr337=) GRCh37: Chr15:38643541 GRCh38: Chr15:38351340	SPRED1		Legius syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 215703440.	NM_152594.3(SPRED1):c.582+18T>C GRCh37: Chr15:38632114 GRCh38: Chr15:38339913	SPRED1		Legius syndrome	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 215440741.	NM_152594.3(SPRED1):c.101T>C (p.Leu34Pro) GRCh37: Chr15:38591642 GRCh38: Chr15:38299441	SPRED1	L34P	Legius syndrome, SPRED1-related condition	Uncertain significance (Mar 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215390842.	NM_152594.3(SPRED1):c.883T>C (p.Ser295Pro) GRCh37: Chr15:38643413 GRCh38: Chr15:38351212	SPRED1	S295P	Legius syndrome	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 215136743.	NM_152594.3(SPRED1):c.377-16T>G GRCh37: Chr15:38616948 GRCh38: Chr15:38324747	SPRED1		Legius syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 214631044.	NM_152594.3(SPRED1):c.52C>A (p.Arg18=) GRCh37: Chr15:38591593 GRCh38: Chr15:38299392	SPRED1		Legius syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 214597245.	NM_152594.3(SPRED1):c.1170C>G (p.Pro390=) GRCh37: Chr15:38643700 GRCh38: Chr15:38351499	SPRED1		Legius syndrome	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214348046.	NM_152594.3(SPRED1):c.498G>C (p.Glu166Asp) GRCh37: Chr15:38632012 GRCh38: Chr15:38339811	SPRED1	E166D	Legius syndrome	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 214168747.	NM_152594.3(SPRED1):c.60G>A (p.Val20=) GRCh37: Chr15:38591601 GRCh38: Chr15:38299400	SPRED1		Legius syndrome	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213987048.	NM_152594.3(SPRED1):c.582+17T>A GRCh37: Chr15:38632113 GRCh38: Chr15:38339912	SPRED1		Legius syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 213985149.	NM_152594.3(SPRED1):c.207+12T>C GRCh37: Chr15:38591760 GRCh38: Chr15:38299559	SPRED1		Legius syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 213982650.	NM_152594.3(SPRED1):c.46C>G (p.Arg16Gly) GRCh37: Chr15:38591587 GRCh38: Chr15:38299386	SPRED1	R16G	Legius syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 212034951.	NM_152594.3(SPRED1):c.665G>A (p.Ser222Asn) GRCh37: Chr15:38641705 GRCh38: Chr15:38349504	SPRED1	S222N	Legius syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 211314052.	NM_152594.3(SPRED1):c.685-3_685-2insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATCTGTTTCTTTTTT GRCh37: Chr15:38643196-38643197 GRCh38: Chr15:38350995-38350996	SPRED1		Legius syndrome	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 211066053.	NM_152594.3(SPRED1):c.328del (p.Arg110fs) GRCh37: Chr15:38614562 GRCh38: Chr15:38322361	SPRED1	R110fs	Legius syndrome	Pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 209579854.	NM_152594.3(SPRED1):c.291del (p.Lys98fs) GRCh37: Chr15:38614525 GRCh38: Chr15:38322324	SPRED1	K98fs	Legius syndrome	Pathogenic (Feb 9, 2022)	criteria provided, single submitter
Select item 208846355.	NM_152594.3(SPRED1):c.1125G>A (p.Met375Ile) GRCh37: Chr15:38643655 GRCh38: Chr15:38351454	SPRED1	M375I	Legius syndrome	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 208746656.	NM_152594.3(SPRED1):c.958A>G (p.Ile320Val) GRCh37: Chr15:38643488 GRCh38: Chr15:38351287	SPRED1	I320V	Legius syndrome	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208447757.	NM_152594.3(SPRED1):c.1300G>T (p.Gly434Cys) GRCh37: Chr15:38643830 GRCh38: Chr15:38351629	SPRED1	G434C	Legius syndrome	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 207377058.	NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs) GRCh37: Chr15:38643619-38643634 GRCh38: Chr15:38351418-38351433	SPRED1	Y364fs	Legius syndrome	Pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 206502759.	NM_152594.3(SPRED1):c.684+13A>G GRCh37: Chr15:38641737 GRCh38: Chr15:38349536	SPRED1		Legius syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 205917660.	NM_152594.3(SPRED1):c.21T>A (p.Thr7=) GRCh37: Chr15:38545407 GRCh38: Chr15:38253206	SPRED1		Legius syndrome	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 204204361.	NM_152594.3(SPRED1):c.766C>T (p.Arg256Cys) GRCh37: Chr15:38643296 GRCh38: Chr15:38351095	SPRED1	R256C	Legius syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 203977462.	NM_152594.3(SPRED1):c.546T>A (p.Asn182Lys) GRCh37: Chr15:38632060 GRCh38: Chr15:38339859	SPRED1	N182K	Legius syndrome	Uncertain significance (Aug 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203845163.	NM_152594.3(SPRED1):c.1110C>T (p.Leu370=) GRCh37: Chr15:38643640 GRCh38: Chr15:38351439	SPRED1		Cardiovascular phenotype, Legius syndrome	Likely benign (Jul 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203780464.	NM_152594.3(SPRED1):c.611T>C (p.Ile204Thr) GRCh37: Chr15:38641651 GRCh38: Chr15:38349450	SPRED1	I204T	Legius syndrome	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 203727465.	NM_152594.3(SPRED1):c.582+22del GRCh37: Chr15:38632113 GRCh38: Chr15:38339912	SPRED1		Legius syndrome	Benign (Aug 21, 2022)	criteria provided, single submitter
Select item 203411666.	NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs) GRCh37: Chr15:38614575-38614576 GRCh38: Chr15:38322374-38322375	SPRED1	R117fs	Legius syndrome	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 203350467.	NM_152594.3(SPRED1):c.423+1del GRCh37: Chr15:38617011 GRCh38: Chr15:38324810	SPRED1		Legius syndrome	Likely pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 203186468.	NM_152594.3(SPRED1):c.288C>T (p.Asp96=) GRCh37: Chr15:38614522 GRCh38: Chr15:38322321	SPRED1		Legius syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 203113769.	NM_152594.3(SPRED1):c.272del (p.His91fs) GRCh37: Chr15:38614506 GRCh38: Chr15:38322305	SPRED1	H91fs	Legius syndrome	Pathogenic (Sep 18, 2022)	criteria provided, single submitter
Select item 203052470.	NM_152594.3(SPRED1):c.207G>A (p.Met69Ile) GRCh37: Chr15:38591748 GRCh38: Chr15:38299547	SPRED1	M69I	Legius syndrome	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 202237171.	NM_152594.3(SPRED1):c.1235dup (p.Ile413fs) GRCh37: Chr15:38643762-38643763 GRCh38: Chr15:38351561-38351562	SPRED1	I413fs	Legius syndrome	Pathogenic (Aug 7, 2022)	criteria provided, single submitter
Select item 200909072.	NM_152594.3(SPRED1):c.963G>C (p.Lys321Asn) GRCh37: Chr15:38643493 GRCh38: Chr15:38351292	SPRED1	K321N	Legius syndrome	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 200904773.	NM_152594.3(SPRED1):c.444C>G (p.Ser148=) GRCh37: Chr15:38631958 GRCh38: Chr15:38339757	SPRED1		Legius syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 200270674.	NM_152594.3(SPRED1):c.461del (p.Asp154fs) GRCh37: Chr15:38631975 GRCh38: Chr15:38339774	SPRED1	D154fs	Legius syndrome	Pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 199856475.	NM_152594.3(SPRED1):c.902A>C (p.Lys301Thr) GRCh37: Chr15:38643432 GRCh38: Chr15:38351231	SPRED1	K301T	Legius syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199281176.	NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter) GRCh37: Chr15:38643672 GRCh38: Chr15:38351471	SPRED1	S381*	Legius syndrome	Pathogenic (Jul 20, 2022)	criteria provided, single submitter
Select item 198983277.	NM_152594.3(SPRED1):c.241A>G (p.Ile81Val) GRCh37: Chr15:38614475 GRCh38: Chr15:38322274	SPRED1	I81V	Legius syndrome	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 198958478.	NM_152594.3(SPRED1):c.161G>C (p.Gly54Ala) GRCh37: Chr15:38591702 GRCh38: Chr15:38299501	SPRED1	G54A	Legius syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 198537279.	NM_152594.3(SPRED1):c.376+17A>G GRCh37: Chr15:38614627 GRCh38: Chr15:38322426	SPRED1		Legius syndrome	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 198379480.	NM_152594.3(SPRED1):c.888T>C (p.Cys296=) GRCh37: Chr15:38643418 GRCh38: Chr15:38351217	SPRED1		Legius syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 197886881.	NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp) GRCh37: Chr15:38545414 GRCh38: Chr15:38253213	SPRED1	N10D	Cardiovascular phenotype, Legius syndrome	Uncertain significance (Apr 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197407782.	NM_152594.3(SPRED1):c.777A>T (p.Ala259=) GRCh37: Chr15:38643307 GRCh38: Chr15:38351106	SPRED1		Legius syndrome	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 196960883.	NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter) GRCh37: Chr15:38643254 GRCh38: Chr15:38351053	SPRED1	E242*	Legius syndrome	Pathogenic (Sep 25, 2022)	criteria provided, single submitter
Select item 196445884.	NM_152594.3(SPRED1):c.1078A>G (p.Lys360Glu) GRCh37: Chr15:38643608 GRCh38: Chr15:38351407	SPRED1	K360E	Legius syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 195743385.	NM_152594.3(SPRED1):c.32+12A>G GRCh37: Chr15:38545430 GRCh38: Chr15:38253229	SPRED1		Legius syndrome	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 195539886.	NM_152594.3(SPRED1):c.1329T>A (p.Ala443=) GRCh37: Chr15:38643859 GRCh38: Chr15:38351658	SPRED1		Legius syndrome	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 194370787.	NM_152594.3(SPRED1):c.376+3A>G GRCh37: Chr15:38614613 GRCh38: Chr15:38322412	SPRED1		Legius syndrome	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 193549188.	NM_152594.3(SPRED1):c.108G>T (p.Gly36=) GRCh37: Chr15:38591649 GRCh38: Chr15:38299448	SPRED1		Legius syndrome	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 193167689.	NM_152594.3(SPRED1):c.684+1G>T GRCh37: Chr15:38641725 GRCh38: Chr15:38349524	SPRED1		Legius syndrome	Pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 192688690.	NM_152594.3(SPRED1):c.440C>T (p.Ser147Phe) GRCh37: Chr15:38631954 GRCh38: Chr15:38339753	SPRED1	S147F	Legius syndrome	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 192293891.	NM_152594.3(SPRED1):c.619A>C (p.Arg207=) GRCh37: Chr15:38641659 GRCh38: Chr15:38349458	SPRED1		Legius syndrome	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 192033892.	NM_152594.3(SPRED1):c.677A>C (p.Gln226Pro) GRCh37: Chr15:38641717 GRCh38: Chr15:38349516	SPRED1	Q226P	Legius syndrome	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 191683293.	NM_152594.3(SPRED1):c.567A>T (p.Gln189His) GRCh37: Chr15:38632081 GRCh38: Chr15:38339880	SPRED1	Q189H	Legius syndrome	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 191098494.	NM_152594.3(SPRED1):c.908G>A (p.Ser303Asn) GRCh37: Chr15:38643438 GRCh38: Chr15:38351237	SPRED1	S303N	Legius syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 190848195.	NM_152594.3(SPRED1):c.377-12C>T GRCh37: Chr15:38616952 GRCh38: Chr15:38324751	SPRED1		Legius syndrome	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 190388796.	NM_152594.3(SPRED1):c.156G>C (p.Glu52Asp) GRCh37: Chr15:38591697 GRCh38: Chr15:38299496	SPRED1	E52D	Legius syndrome	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 190219197.	NM_152594.3(SPRED1):c.582+1G>T GRCh37: Chr15:38632097 GRCh38: Chr15:38339896	SPRED1		Legius syndrome	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 189698198.	NM_152594.3(SPRED1):c.885T>C (p.Ser295=) GRCh37: Chr15:38643415 GRCh38: Chr15:38351214	SPRED1		Legius syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 180499599.	NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter) GRCh37: Chr15:38643480 GRCh38: Chr15:38351279	SPRED1	S317*	Legius syndrome	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 1759658100.	NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser) GRCh37: Chr15:38643288 GRCh38: Chr15:38351087	SPRED1	I253S	Legius syndrome, Cardiovascular phenotype	Uncertain significance (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts

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