ClinVar for MedGen (Select 902892) - ClinVar

Links from MedGen

Items: 71

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18061551.	NM_006767.4(LZTR1):c.1667G>A (p.Ser556Asn) GRCh37: Chr22:21348898 GRCh38: Chr22:20994609	LZTR1	S556N	Noonan syndrome 10, not provided	Uncertain significance (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18061102.	NM_006767.4(LZTR1):c.273_274delinsAA (p.Met91_Leu92delinsIleIle) GRCh37: Chr22:21340139-21340140 GRCh38: Chr22:20985850-20985851	LZTR1		Noonan syndrome 10	Likely pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 18059223.	NM_006767.4(LZTR1):c.416A>G (p.Asp139Gly) GRCh37: Chr22:21342314 GRCh38: Chr22:20988025	LZTR1	D139G	Noonan syndrome 10	Likely pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 18014824.	NM_006767.4(LZTR1):c.209A>T (p.Lys70Met) GRCh37: Chr22:21337324 GRCh38: Chr22:20983035	LZTR1	K70M	Noonan syndrome 10	Uncertain significance	criteria provided, single submitter
Select item 17896455.	NM_006767.4(LZTR1):c.2325G>T (p.Gln775His) GRCh37: Chr22:21351090 GRCh38: Chr22:20996801	LZTR1	Q775H	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10	Uncertain significance (Jul 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17341866.	NM_006767.4(LZTR1):c.370G>A (p.Val124Ile) GRCh37: Chr22:21341842 GRCh38: Chr22:20987553	LZTR1	V124I	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 10, not provided	Uncertain significance (Jun 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17127457.	NM_006767.4(LZTR1):c.443A>G (p.Asn148Ser) GRCh37: Chr22:21342341 GRCh38: Chr22:20988052	LZTR1	N148S	Noonan syndrome 10, Noonan syndrome 2, not provided	Uncertain significance (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17123338.	NM_006767.4(LZTR1):c.295G>T (p.Asp99Tyr) GRCh37: Chr22:21340161 GRCh38: Chr22:20985872	LZTR1	D99Y	Noonan syndrome 10	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 17122839.	NM_006767.4(LZTR1):c.2470C>G (p.Leu824Val) GRCh37: Chr22:21351584 GRCh38: Chr22:20997295	LZTR1	L824V	Noonan syndrome 10, not provided	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171026310.	NM_006767.4(LZTR1):c.163C>T (p.Arg55Trp) GRCh37: Chr22:21336823 GRCh38: Chr22:20982534	LZTR1	R55W	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 169922911.	NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg) GRCh37: Chr22:21348906-21348907 GRCh38: Chr22:20994617-20994618	LZTR1		Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10	Uncertain significance (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169673312.	NM_006767.4(LZTR1):c.895_898del (p.Phe299fs) GRCh37: Chr22:21346018-21346021 GRCh38: Chr22:20991729-20991732	LZTR1	F299fs	Noonan syndrome 2, Noonan syndrome 10	Uncertain significance (Jun 11, 2021)	criteria provided, single submitter
Select item 169153413.	NM_006767.4(LZTR1):c.1141G>C (p.Ala381Pro) GRCh37: Chr22:21346650 GRCh38: Chr22:20992361	LZTR1	A381P	Noonan syndrome 10	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 168364314.	NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter) GRCh37: Chr22:21346587 GRCh38: Chr22:20992298	LZTR1	K360*	Schwannomatosis 2, Noonan syndrome 2, Noonan syndrome 10	Likely pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 164401315.	NM_006767.4(LZTR1):c.1689G>A (p.Glu563=) GRCh37: Chr22:21348920 GRCh38: Chr22:20994631	LZTR1		Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10, not provided	Conflicting interpretations of pathogenicity (Jul 25, 2023)	criteria provided, conflicting interpretations
Select item 151784916.	NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) GRCh37: Chr22:21347168 GRCh38: Chr22:20992879	LZTR1	R412H	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Schwannomatosis 2, Noonan syndrome 2, Noonan syndrome 10, not provided	Conflicting interpretations of pathogenicity (May 21, 2022)	criteria provided, conflicting interpretations
Select item 151285117.	NM_006767.4(LZTR1):c.1943-1G>A GRCh37: Chr22:21350034 GRCh38: Chr22:20995745	LZTR1		Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Schwannomatosis 2, Noonan syndrome 2, Noonan syndrome 10, not provided	Likely pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149614718.	NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg) GRCh37: Chr22:21336682 GRCh38: Chr22:20982393	LZTR1	G8R	Noonan syndrome 10, not provided, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype	Uncertain significance (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145371819.	NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) GRCh37: Chr22:21342363 GRCh38: Chr22:20988074	LZTR1	Y155*	not provided, Noonan syndrome 2, Noonan syndrome 10, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137056720.	NM_006767.4(LZTR1):c.373G>A (p.Val125Ile) GRCh37: Chr22:21341845 GRCh38: Chr22:20987556	LZTR1	V125I	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 10, not provided	Uncertain significance (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 136570321.	NM_006767.4(LZTR1):c.1942+3A>G GRCh37: Chr22:21349318 GRCh38: Chr22:20995029	LZTR1		Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, not provided, Noonan syndrome 2, Schwannomatosis 2, Noonan syndrome 10	Uncertain significance (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133970422.	NM_006767.4(LZTR1):c.1354-5T>A GRCh37: Chr22:21348208 GRCh38: Chr22:20993919	LZTR1		Noonan syndrome 10, not specified, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, not provided	Uncertain significance (Nov 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133395523.	NM_006767.4(LZTR1):c.320+1G>C GRCh37: Chr22:21340187 GRCh38: Chr22:20985898	LZTR1		Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 10	Likely pathogenic (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132579824.	NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu) GRCh37: Chr22:21343095 GRCh38: Chr22:20988806	LZTR1	S176L	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132015925.	NM_006767.4(LZTR1):c.2501_2502del (p.Ala834fs) GRCh37: Chr22:21351615-21351616 GRCh38: Chr22:20997326-20997327	LZTR1	A834fs	Noonan syndrome 10	Pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 130841426.	NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp) GRCh37: Chr22:21342406 GRCh38: Chr22:20988117	LZTR1	R170W	not provided, Noonan syndrome 10, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109883627.	NM_006767.4(LZTR1):c.946G>A (p.Val316Met) GRCh37: Chr22:21346071 GRCh38: Chr22:20991782	LZTR1	V316M	not provided, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10, not specified	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105230728.	NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp) GRCh37: Chr22:21350271 GRCh38: Chr22:20995982	LZTR1	R697W	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10, not provided	Uncertain significance (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103431429.	NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser) GRCh37: Chr22:21351623 GRCh38: Chr22:20997334	LZTR1	G837S	Noonan syndrome 10	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 103431230.	NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) GRCh37: Chr22:21350355 GRCh38: Chr22:20996066	LZTR1	R725C	Noonan syndrome 10, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103431031.	NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser) GRCh37: Chr22:21347187 GRCh38: Chr22:20992898	LZTR1	R418S	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10, not provided	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102908532.	NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr) GRCh37: Chr22:21336718 GRCh38: Chr22:20982429	LZTR1	A20T	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 10, not provided	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102908433.	NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr) GRCh37: Chr22:21341794 GRCh38: Chr22:20987505	LZTR1	A108T	Noonan syndrome 10	Uncertain significance (Apr 3, 2019)	criteria provided, single submitter
Select item 102908334.	NM_006767.4(LZTR1):c.2070-12C>A GRCh37: Chr22:21350240 GRCh38: Chr22:20995951	LZTR1		Noonan syndrome 10	Uncertain significance (Feb 3, 2020)	criteria provided, single submitter
Select item 102072635.	NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly) GRCh37: Chr22:21346113 GRCh38: Chr22:20991824	LZTR1	S330G	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, not provided, Noonan syndrome 10	Uncertain significance (Aug 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 101554136.	NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys) GRCh37: Chr22:21350070 GRCh38: Chr22:20995781	LZTR1	E660K	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10, not provided	Uncertain significance (Jan 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 101432737.	NM_006767.4(LZTR1):c.2260A>C (p.Asn754His) GRCh37: Chr22:21351025 GRCh38: Chr22:20996736	LZTR1	N754H	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, not provided, Noonan syndrome 10	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100039938.	NM_006767.4(LZTR1):c.404G>T (p.Gly135Val) GRCh37: Chr22:21342302 GRCh38: Chr22:20988013	LZTR1	G135V	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99825539.	NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg) GRCh37: Chr22:21351551 GRCh38: Chr22:20997262	LZTR1	S813R	not provided, Noonan syndrome 10	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99821340.	NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser) GRCh37: Chr22:21347187 GRCh38: Chr22:20992898	LZTR1	R418S	Noonan syndrome 10	Uncertain significance (Jun 5, 2020)	criteria provided, single submitter
Select item 98444341.	NM_006767.4(LZTR1):c.1785+1G>C GRCh37: Chr22:21349017 GRCh38: Chr22:20994728	LZTR1		Noonan syndrome 10	Pathogenic	criteria provided, single submitter
Select item 97871642.	NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser) GRCh37: Chr22:21344745 GRCh38: Chr22:20990456	LZTR1	F241S	Noonan syndrome 2, Noonan syndrome 10	Likely pathogenic (Jul 7, 2020)	no assertion criteria provided
Select item 96829943.	NM_006767.4(LZTR1):c.1700G>A (p.Arg567His) GRCh37: Chr22:21348931 GRCh38: Chr22:20994642	LZTR1	R567H	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Schwannomatosis 2, Noonan syndrome 10, not provided, not specified	Conflicting interpretations of pathogenicity (Jan 24, 2023)	criteria provided, conflicting interpretations
Select item 92871344.	NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp) GRCh37: Chr22:21351028 GRCh38: Chr22:20996739	LZTR1	R755W	Noonan syndrome 10, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, not specified, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91810045.	NM_006767.4(LZTR1):c.1620T>C (p.His540=) GRCh37: Chr22:21348851 GRCh38: Chr22:20994562	LZTR1		Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, not specified, Noonan syndrome 10, Noonan syndrome 2, Schwannomatosis 2, not provided	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85204846.	NM_006767.4(LZTR1):c.710G>A (p.Arg237Gln) GRCh37: Chr22:21344733 GRCh38: Chr22:20990444	LZTR1	R237Q	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, not provided, Noonan syndrome 10	Uncertain significance (Dec 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80933347.	NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) GRCh37: Chr22:21349285 GRCh38: Chr22:20994996	LZTR1	R638C	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80084448.	NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) GRCh37: Chr22:21348528 GRCh38: Chr22:20994239	LZTR1	Y529H	Noonan syndrome 10	Uncertain significance (Aug 25, 2019)	no assertion criteria provided
Select item 63490049.	NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His) GRCh37: Chr22:21351010 GRCh38: Chr22:20996721	LZTR1	Y749H	Noonan syndrome 2, Noonan syndrome 10	Uncertain significance	no assertion criteria provided
Select item 63489950.	NM_006767.4(LZTR1):c.360C>A (p.His120Gln) GRCh37: Chr22:21341832 GRCh38: Chr22:20987543	LZTR1	H120Q	Noonan syndrome 10	Uncertain significance	criteria provided, single submitter
Select item 59903051.	NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) GRCh37: Chr22:21343948 GRCh38: Chr22:20989659	LZTR1	R210*	Noonan syndrome 10, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Schwannomatosis 2, not provided	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56195752.	NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp) GRCh37: Chr22:21347993 GRCh38: Chr22:20993704	LZTR1	R435W	Noonan syndrome 10, not provided, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 56171653.	NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) GRCh37: Chr22:21345973 GRCh38: Chr22:20991684	LZTR1	R283Q	RASopathy, Noonan syndrome and Noonan-related syndrome, Noonan syndrome 10, not provided	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 56168354.	NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) GRCh37: Chr22:21345967 GRCh38: Chr22:20991678	LZTR1	P281L	not specified, not provided, Inborn genetic diseases, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10	Conflicting interpretations of pathogenicity (Aug 14, 2023)	criteria provided, conflicting interpretations
Select item 55950755.	NM_006767.4(LZTR1):c.1739T>C (p.Leu580Pro) GRCh37: Chr22:21348970 GRCh38: Chr22:20994681	LZTR1	L580P	Noonan syndrome 10	Uncertain significance	no assertion criteria provided
Select item 54975256.	NM_006767.4(LZTR1):c.-38T>A GRCh37: Chr22:21336623 GRCh38: Chr22:20982334	LZTR1		Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 2, Schwannomatosis 2, Noonan syndrome 10, Noonan syndrome 2, not provided, Noonan syndrome 2, Noonan syndrome 10	Conflicting interpretations of pathogenicity (Jun 18, 2022)	criteria provided, conflicting interpretations
Select item 54658157.	NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) GRCh37: Chr22:21340138 GRCh38: Chr22:20985849	LZTR1	M91T	Noonan syndrome 10, not provided	Conflicting interpretations of pathogenicity (Oct 3, 2019)	criteria provided, conflicting interpretations
Select item 52216458.	NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) GRCh37: Chr22:21336686 GRCh38: Chr22:20982397	LZTR1	G9A	Inborn genetic diseases, Noonan syndrome 10, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, not specified, not provided	Conflicting interpretations of pathogenicity (Feb 20, 2023)	criteria provided, conflicting interpretations
Select item 48887759.	NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) GRCh37: Chr22:21346527 GRCh38: Chr22:20992238	LZTR1	R340*	not provided, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10, not specified, Schwannomatosis 2	Conflicting interpretations of pathogenicity (Sep 25, 2023)	criteria provided, conflicting interpretations
Select item 45222860.	NM_006767.4(LZTR1):c.59C>T (p.Ala20Val) GRCh37: Chr22:21336719 GRCh38: Chr22:20982430	LZTR1	A20V	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 10, not provided	Uncertain significance (Jan 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44896361.	NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) GRCh37: Chr22:21350074 GRCh38: Chr22:20995785	LZTR1	G661E	not provided, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 10	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43355262.	NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) GRCh37: Chr22:21349277 GRCh38: Chr22:20994988	LZTR1	P635L	not provided, not specified, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 43137163.	NM_006767.4(LZTR1):c.271A>G (p.Met91Val) GRCh37: Chr22:21340137 GRCh38: Chr22:20985848	LZTR1	M91V	not provided, Noonan syndrome 10, RASopathy	Uncertain significance (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37360464.	NM_006767.4(LZTR1):c.1750G>A (p.Glu584Lys) GRCh37: Chr22:21348981 GRCh38: Chr22:20994692	LZTR1	E584K	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10, not provided, not specified	Uncertain significance (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37308965.	NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) GRCh37: Chr22:21347167 GRCh38: Chr22:20992878	LZTR1	R412C	not specified, Non-immune hydrops fetalis, not provided, Noonan syndrome and Noonan-related syndrome, RASopathy, Schwannomatosis 2, Noonan syndrome 10	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 28996966.	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) GRCh37: Chr22:21346593 GRCh38: Chr22:20992304	LZTR1	R362*	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 2, not provided, Schwannomatosis, Schwannomatosis 2, Noonan syndrome 10, Noonan syndrome and Noonan-related syndrome, Schwannomatosis 2, See cases	Pathogenic/Likely pathogenic (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20909067.	NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) GRCh37: Chr22:21344763 GRCh38: Chr22:20990474	LZTR1	S247N	Noonan syndrome 10	Pathogenic (Jun 1, 2015)	no assertion criteria provided
Select item 20908968.	NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) GRCh37: Chr22:21345975 GRCh38: Chr22:20991686	LZTR1	R284C	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 10, Noonan syndrome 10, Schwannomatosis 2, not provided	Pathogenic (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20908869.	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) GRCh37: Chr22:21344765 GRCh38: Chr22:20990476	LZTR1	G248R	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Inborn genetic diseases, Schwannomatosis 2, Noonan syndrome 10, Fetal cystic hygroma, Noonan syndrome 10, not provided, RASopathy	Pathogenic/Likely pathogenic (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14393170.	NM_006767.4(LZTR1):c.27del (p.Gln10fs) GRCh37: Chr22:21336681 GRCh38: Chr22:20982392	LZTR1	Q10fs	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 10, not provided	Pathogenic (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10103471.	NM_006767.4(LZTR1):c.264-13G>A GRCh37: Chr22:21340117 GRCh38: Chr22:20985828	LZTR1		Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Noonan syndrome 2, Noonan syndrome 10, Schwannomatosis 2, Schwannomatosis 2, Developmental disorder, not provided, RASopathy	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 71