ClinVar for MedGen (Select 418969) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 104

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17024521.	NM_002296.4(LBR):c.991C>T (p.Leu331Phe) GRCh37: Chr1:225600249 GRCh38: Chr1:225412547	LBR	L331F	Greenberg dysplasia, Connective tissue disorder, Inborn genetic diseases	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16205002.	NM_002296.4(LBR):c.1315-13T>C GRCh37: Chr1:225594547 GRCh38: Chr1:225406845	LBR		Reynolds syndrome, Regressive spondylometaphyseal dysplasia, Pelger-Huët anomaly, Greenberg dysplasia, not provided	Likely benign (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14338393.	NM_002296.4(LBR):c.284G>A (p.Arg95His) GRCh37: Chr1:225609861 GRCh38: Chr1:225422159	LBR	R95H	not provided, Greenberg dysplasia	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14144654.	NM_002296.4(LBR):c.860T>C (p.Ile287Thr) GRCh37: Chr1:225603012 GRCh38: Chr1:225415310	LBR	I287T	Regressive spondylometaphyseal dysplasia, Pelger-Huët anomaly, Greenberg dysplasia, Reynolds syndrome, not provided	Uncertain significance (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13394255.	NM_002296.4(LBR):c.1379A>G (p.Asp460Gly) GRCh37: Chr1:225594470 GRCh38: Chr1:225406768	LBR	D460G	Greenberg dysplasia	Pathogenic (Mar 17, 2022)	no assertion criteria provided
Select item 13394246.	NM_002296.4(LBR):c.366+1G>T GRCh37: Chr1:225609778 GRCh38: Chr1:225422076	LBR		Greenberg dysplasia	Pathogenic (Mar 17, 2022)	no assertion criteria provided
Select item 8770587.	NM_002296.4(LBR):c.287G>A (p.Arg96Gln) GRCh37: Chr1:225609858 GRCh38: Chr1:225422156	LBR	R96Q	Greenberg dysplasia, not provided	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8770578.	NM_002296.4(LBR):c.353C>T (p.Thr118Ile) GRCh37: Chr1:225609792 GRCh38: Chr1:225422090	LBR	T118I	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8770569.	NM_002296.4(LBR):c.357G>A (p.Pro119=) GRCh37: Chr1:225609788 GRCh38: Chr1:225422086	LBR		Greenberg dysplasia, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 87705510.	NM_002296.4(LBR):c.371C>A (p.Pro124Gln) GRCh37: Chr1:225607496 GRCh38: Chr1:225419794	LBR	P124Q	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87700911.	NM_002296.4(LBR):c.1217C>G (p.Ala406Gly) GRCh37: Chr1:225598090 GRCh38: Chr1:225410388	LBR	A406G	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87700812.	NM_002296.4(LBR):c.1238G>A (p.Arg413His) GRCh37: Chr1:225598069 GRCh38: Chr1:225410367	LBR	R413H	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87696013.	NM_002296.4(LBR):c.*1498T>C GRCh37: Chr1:225589507 GRCh38: Chr1:225401805	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87695914.	NM_002296.4(LBR):c.*1586G>A GRCh37: Chr1:225589419 GRCh38: Chr1:225401717	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87695815.	NM_002296.4(LBR):c.*1595A>G GRCh37: Chr1:225589410 GRCh38: Chr1:225401708	LBR		Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87695716.	NM_002296.4(LBR):c.*1769A>T GRCh37: Chr1:225589236 GRCh38: Chr1:225401534	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87695617.	NM_002296.4(LBR):c.*1800C>T GRCh37: Chr1:225589205 GRCh38: Chr1:225401503	LBR		Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87610418.	NM_002296.4(LBR):c.562G>A (p.Val188Ile) GRCh37: Chr1:225607043 GRCh38: Chr1:225419341	LBR	V188I	not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 87610319.	NM_002296.4(LBR):c.575T>G (p.Leu192Arg) GRCh37: Chr1:225607030 GRCh38: Chr1:225419328	LBR	L192R	Greenberg dysplasia, Inborn genetic diseases	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87610220.	NM_002296.4(LBR):c.655A>G (p.Met219Val) GRCh37: Chr1:225605868 GRCh38: Chr1:225418166	LBR	M219V	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87610121.	NM_002296.4(LBR):c.730C>T (p.Pro244Ser) GRCh37: Chr1:225605793 GRCh38: Chr1:225418091	LBR	P244S	Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87604422.	NM_002296.4(LBR):c.1561G>A (p.Ala521Thr) GRCh37: Chr1:225592331 GRCh38: Chr1:225404629	LBR	A521T	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87604323.	NM_002296.4(LBR):c.1561G>T (p.Ala521Ser) GRCh37: Chr1:225592331 GRCh38: Chr1:225404629	LBR	A521S	Connective tissue disorder, not provided, Greenberg dysplasia	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87604224.	NM_002296.4(LBR):c.1793C>T (p.Ala598Val) GRCh37: Chr1:225591060 GRCh38: Chr1:225403358	LBR	A598V	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87520425.	NM_002296.4(LBR):c.-65G>A GRCh37: Chr1:225615706 GRCh38: Chr1:225428004	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87520326.	NM_002296.4(LBR):c.-15+14C>T GRCh37: Chr1:225615642 GRCh38: Chr1:225427940	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87514327.	NM_002296.4(LBR):c.743C>T (p.Pro248Leu) GRCh37: Chr1:225605780 GRCh38: Chr1:225418078	LBR	P248L	not provided, Inborn genetic diseases, Greenberg dysplasia	Uncertain significance (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87514228.	NM_002296.4(LBR):c.838-5T>C GRCh37: Chr1:225603039 GRCh38: Chr1:225415337	LBR		not provided, Greenberg dysplasia	Uncertain significance (Dec 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87509729.	NM_002296.4(LBR):c.1814G>A (p.Arg605His) GRCh37: Chr1:225591039 GRCh38: Chr1:225403337	LBR	R605H	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87509630.	NM_002296.4(LBR):c.*27C>T GRCh37: Chr1:225590978 GRCh38: Chr1:225403276	LBR		Greenberg dysplasia	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87509531.	NM_002296.4(LBR):c.*33C>G GRCh37: Chr1:225590972 GRCh38: Chr1:225403270	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87509432.	NM_002296.4(LBR):c.*362T>G GRCh37: Chr1:225590643 GRCh38: Chr1:225402941	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87426933.	NM_002296.4(LBR):c.254G>A (p.Arg85Gln) GRCh37: Chr1:225609891 GRCh38: Chr1:225422189	LBR	R85Q	Greenberg dysplasia	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87422234.	NM_002296.4(LBR):c.1034A>G (p.Tyr345Cys) GRCh37: Chr1:225600206 GRCh38: Chr1:225412504	LBR	Y345C	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87422135.	NM_002296.4(LBR):c.1115G>A (p.Arg372His) GRCh37: Chr1:225599112 GRCh38: Chr1:225411410	LBR	R372H	not provided, Inborn genetic diseases, Greenberg dysplasia	Uncertain significance (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87416836.	NM_002296.4(LBR):c.*1201A>G GRCh37: Chr1:225589804 GRCh38: Chr1:225402102	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 74857437.	NM_002296.4(LBR):c.271C>T (p.Pro91Ser) GRCh37: Chr1:225609874 GRCh38: Chr1:225422172	LBR	P91S	not provided, Inborn genetic diseases, Greenberg dysplasia	Conflicting interpretations of pathogenicity (May 16, 2022)	criteria provided, conflicting interpretations
Select item 74293438.	NM_002296.4(LBR):c.893-4A>T GRCh37: Chr1:225600351 GRCh38: Chr1:225412649	LBR		not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Sep 8, 2022)	criteria provided, conflicting interpretations
Select item 73773939.	NM_002296.4(LBR):c.367-7A>T GRCh37: Chr1:225607507 GRCh38: Chr1:225419805	LBR		not provided, Greenberg dysplasia	Benign/Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73674440.	NM_002296.4(LBR):c.1315-8C>T GRCh37: Chr1:225594542 GRCh38: Chr1:225406840	LBR		Connective tissue disorder, Greenberg dysplasia, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 73255941.	NM_002296.4(LBR):c.1315-10A>G GRCh37: Chr1:225594544 GRCh38: Chr1:225406842	LBR		Greenberg dysplasia, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 73015142.	NM_002296.4(LBR):c.1289A>G (p.Tyr430Cys) GRCh37: Chr1:225598018 GRCh38: Chr1:225410316	LBR	Y430C	not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Jun 7, 2022)	criteria provided, conflicting interpretations
Select item 72554443.	NM_002296.4(LBR):c.312C>T (p.Ala104=) GRCh37: Chr1:225609833 GRCh38: Chr1:225422131	LBR		Connective tissue disorder, not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 71594344.	NM_002296.4(LBR):c.931A>G (p.Thr311Ala) GRCh37: Chr1:225600309 GRCh38: Chr1:225412607	LBR	T311A	not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 71068245.	NM_002296.4(LBR):c.819C>T (p.Tyr273=) GRCh37: Chr1:225605704 GRCh38: Chr1:225418002	LBR		not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 58610946.	NM_002296.4(LBR):c.1528G>A (p.Ala510Thr) GRCh37: Chr1:225592364 GRCh38: Chr1:225404662	LBR	A510T	not provided, Greenberg dysplasia	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54562647.	NM_002296.4(LBR):c.1757G>A (p.Arg586His) GRCh37: Chr1:225591096 GRCh38: Chr1:225403394	LBR	R586H	not provided, Pelger-Huët anomaly, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Aug 28, 2022)	criteria provided, conflicting interpretations
Select item 42680048.	NM_002296.4(LBR):c.1366C>G (p.Leu456Val) GRCh37: Chr1:225594483 GRCh38: Chr1:225406781	LBR	L456V	Pelger-Huët anomaly, Greenberg dysplasia, Regressive spondylometaphyseal dysplasia, Reynolds syndrome, Connective tissue disorder, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 29595949.	NM_002296.3(LBR):c.-169G>A GRCh37: Chr1:225615810 GRCh38: Chr1:225428108	LBR		Greenberg dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29595850.	NM_002296.3(LBR):c.-167C>T GRCh37: Chr1:225615808 GRCh38: Chr1:225428106	LBR		not provided, Greenberg dysplasia	Likely benign (May 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29595751.	NM_002296.3(LBR):c.-162G>A GRCh37: Chr1:225615803 GRCh38: Chr1:225428101	LBR		Greenberg dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29595652.	NM_002296.3(LBR):c.-126C>T GRCh37: Chr1:225615767 GRCh38: Chr1:225428065	LBR		not provided, Greenberg dysplasia	Likely benign (Aug 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29595553.	NM_002296.4(LBR):c.-71G>C GRCh37: Chr1:225615712 GRCh38: Chr1:225428010	LBR		Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29595454.	NM_002296.4(LBR):c.-66T>C GRCh37: Chr1:225615707 GRCh38: Chr1:225428005	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29595355.	NM_002296.4(LBR):c.-41C>G GRCh37: Chr1:225615682 GRCh38: Chr1:225427980	LBR		Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29595256.	NM_002296.4(LBR):c.-39G>C GRCh37: Chr1:225615680 GRCh38: Chr1:225427978	LBR		not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 29595157.	NM_002296.4(LBR):c.-33C>A GRCh37: Chr1:225615674 GRCh38: Chr1:225427972	LBR		Greenberg dysplasia	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29595058.	NM_002296.4(LBR):c.21C>T (p.Ala7=) GRCh37: Chr1:225611757 GRCh38: Chr1:225424055	LBR		not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Nov 12, 2021)	criteria provided, conflicting interpretations
Select item 29594959.	NM_002296.4(LBR):c.90C>T (p.His30=) GRCh37: Chr1:225611688 GRCh38: Chr1:225423986	LBR		not provided, Connective tissue disorder, Greenberg dysplasia	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29594860.	NM_002296.4(LBR):c.97A>G (p.Thr33Ala) GRCh37: Chr1:225611681 GRCh38: Chr1:225423979	LBR	T33A	not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Feb 5, 2022)	criteria provided, conflicting interpretations
Select item 29594761.	NM_002296.4(LBR):c.206C>T (p.Ser69Phe) GRCh37: Chr1:225609939 GRCh38: Chr1:225422237	LBR	S69F	not provided, Inborn genetic diseases, Greenberg dysplasia	Uncertain significance (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29594662.	NM_002296.4(LBR):c.396T>C (p.Tyr132=) GRCh37: Chr1:225607471 GRCh38: Chr1:225419769	LBR		not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Feb 10, 2022)	criteria provided, conflicting interpretations
Select item 29594563.	NM_002296.4(LBR):c.607C>T (p.Arg203Trp) GRCh37: Chr1:225606998 GRCh38: Chr1:225419296	LBR	R203W	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29594464.	NM_002296.4(LBR):c.724A>G (p.Asn242Asp) GRCh37: Chr1:225605799 GRCh38: Chr1:225418097	LBR	N242D	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29594365.	NM_002296.4(LBR):c.746C>A (p.Ala249Asp) GRCh37: Chr1:225605777 GRCh38: Chr1:225418075	LBR	A249D	not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Jul 24, 2022)	criteria provided, conflicting interpretations
Select item 29594266.	NM_002296.4(LBR):c.790C>T (p.Leu264=) GRCh37: Chr1:225605733 GRCh38: Chr1:225418031	LBR		not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 29594167.	NM_002296.4(LBR):c.838-9dup GRCh37: Chr1:225603042-225603043 GRCh38: Chr1:225415340-225415341	LBR		not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Oct 6, 2021)	criteria provided, conflicting interpretations
Select item 29594068.	NM_002296.4(LBR):c.843A>G (p.Val281=) GRCh37: Chr1:225603029 GRCh38: Chr1:225415327	LBR		not specified, Pelger-Huët anomaly, Greenberg dysplasia, Reynolds syndrome, Regressive spondylometaphyseal dysplasia, Connective tissue disorder, not provided, Greenberg dysplasia	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29593969.	NM_002296.4(LBR):c.899A>G (p.Tyr300Cys) GRCh37: Chr1:225600341 GRCh38: Chr1:225412639	LBR	Y300C	not provided, Connective tissue disorder, Inborn genetic diseases, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 29593870.	NM_002296.4(LBR):c.951A>G (p.Val317=) GRCh37: Chr1:225600289 GRCh38: Chr1:225412587	LBR		not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 29593771.	NM_002296.4(LBR):c.959A>G (p.His320Arg) GRCh37: Chr1:225600281 GRCh38: Chr1:225412579	LBR	H320R	not provided, Greenberg dysplasia	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29593672.	NM_002296.4(LBR):c.1071G>A (p.Ser357=) GRCh37: Chr1:225600169 GRCh38: Chr1:225412467	LBR		not provided, Connective tissue disorder, Greenberg dysplasia	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29593573.	NM_002296.4(LBR):c.1188+4T>C GRCh37: Chr1:225599035 GRCh38: Chr1:225411333	LBR		not provided, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 29593474.	NM_002296.4(LBR):c.1324T>C (p.Leu442=) GRCh37: Chr1:225594525 GRCh38: Chr1:225406823	LBR		not provided, Connective tissue disorder, Greenberg dysplasia	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 29593375.	NM_002296.4(LBR):c.1328C>T (p.Thr443Met) GRCh37: Chr1:225594521 GRCh38: Chr1:225406819	LBR	T443M	not provided, Greenberg dysplasia	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29593276.	NM_002296.4(LBR):c.1471A>G (p.Ile491Val) GRCh37: Chr1:225594378 GRCh38: Chr1:225406676	LBR	I491V	Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29593177.	NM_002296.4(LBR):c.1590G>A (p.Thr530=) GRCh37: Chr1:225592203 GRCh38: Chr1:225404501	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29593078.	NM_002296.4(LBR):c.1670C>T (p.Ala557Val) GRCh37: Chr1:225592123 GRCh38: Chr1:225404421	LBR	A557V	Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29592979.	NM_002296.4(LBR):c.1828A>G (p.Ile610Val) GRCh37: Chr1:225591025 GRCh38: Chr1:225403323	LBR	I610V	Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29592880.	NM_002296.4(LBR):c.*255C>G GRCh37: Chr1:225590750 GRCh38: Chr1:225403048	LBR		not provided, Greenberg dysplasia	Benign (Aug 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29592781.	NM_002296.4(LBR):c.*330T>G GRCh37: Chr1:225590675 GRCh38: Chr1:225402973	LBR		Greenberg dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29592682.	NM_002296.4(LBR):c.*624T>A GRCh37: Chr1:225590381 GRCh38: Chr1:225402679	LBR		Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29592583.	NM_002296.4(LBR):c.*656G>A GRCh37: Chr1:225590349 GRCh38: Chr1:225402647	LBR		Greenberg dysplasia	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29592484.	NM_002296.4(LBR):c.*686A>G GRCh37: Chr1:225590319 GRCh38: Chr1:225402617	LBR		Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29592385.	NM_002296.4(LBR):c.*769A>T GRCh37: Chr1:225590236 GRCh38: Chr1:225402534	LBR		Greenberg dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29592286.	NM_002296.4(LBR):c.*1049C>G GRCh37: Chr1:225589956 GRCh38: Chr1:225402254	LBR		Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29592187.	NM_002296.4(LBR):c.*1128G>A GRCh37: Chr1:225589877 GRCh38: Chr1:225402175	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29592088.	NM_002296.4(LBR):c.*1200T>C GRCh37: Chr1:225589805 GRCh38: Chr1:225402103	LBR		Greenberg dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29591989.	NM_002296.4(LBR):c.*1305C>G GRCh37: Chr1:225589700 GRCh38: Chr1:225401998	LBR		Greenberg dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29591890.	NM_002296.4(LBR):c.*1361T>C GRCh37: Chr1:225589644 GRCh38: Chr1:225401942	LBR		Greenberg dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29591791.	NM_002296.4(LBR):c.*1532G>A GRCh37: Chr1:225589473 GRCh38: Chr1:225401771	LBR		Greenberg dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 25861992.	NM_002296.4(LBR):c.461G>A (p.Ser154Asn) GRCh37: Chr1:225607144 GRCh38: Chr1:225419442	LBR	S154N	not provided, not specified, Reynolds syndrome, Pelger-Huët anomaly, Greenberg dysplasia	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25861793.	NM_002296.4(LBR):c.261T>C (p.Pro87=) GRCh37: Chr1:225609884 GRCh38: Chr1:225422182	LBR		not specified, not provided, Reynolds syndrome, Pelger-Huët anomaly, Greenberg dysplasia	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25861694.	NM_002296.4(LBR):c.117G>A (p.Val39=) GRCh37: Chr1:225611661 GRCh38: Chr1:225423959	LBR		Pelger-Huët anomaly, Greenberg dysplasia, Reynolds syndrome, not specified, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23570495.	NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) GRCh37: Chr1:225592184 GRCh38: Chr1:225404482	LBR	S537A	Connective tissue disorder, Greenberg dysplasia, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 22487696.	NM_002296.4(LBR):c.226C>T (p.Arg76Ter) GRCh37: Chr1:225609919 GRCh38: Chr1:225422217	LBR	R76*	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia, Greenberg dysplasia	Pathogenic	criteria provided, single submitter
Select item 22487597.	NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) GRCh37: Chr1:225592153 GRCh38: Chr1:225404451	LBR	N547S	not provided, Reynolds syndrome, Greenberg dysplasia, Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	Conflicting interpretations of pathogenicity (Apr 19, 2022)	criteria provided, conflicting interpretations
Select item 21860598.	NM_002296.4(LBR):c.866G>A (p.Gly289Glu) GRCh37: Chr1:225603006 GRCh38: Chr1:225415304	LBR	G289E	Greenberg dysplasia, not specified, not provided	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 10090399.	NM_002296.4(LBR):c.1402del (p.Tyr468fs) GRCh37: Chr1:225594447 GRCh38: Chr1:225406745	LBR	Y468fs	Greenberg dysplasia	Pathogenic (Jul 1, 2010)	no assertion criteria provided
Select item 100902100.	NM_002296.4(LBR):c.32_35del (p.Val11fs) GRCh37: Chr1:225611743-225611746 GRCh38: Chr1:225424041-225424044	LBR	V11fs	Pelger-Huët anomaly, Greenberg dysplasia	Pathogenic (Jul 1, 2010)	no assertion criteria provided

<< First< Prev

Page of 2