ClinVar for MedGen (Select 104494) - ClinVar

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Items: 43

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6664141.	NM_004333.6(BRAF):c.89G>A (p.Gly30Asp) GRCh37: Chr7:140624415 GRCh38: Chr7:140924615	BRAF	G30D	RASopathy	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 5050222.	NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) GRCh37: Chr19:4117537 GRCh38: Chr19:4117539	MAP2K2	K61N	not specified	Uncertain significance (May 6, 2016)	criteria provided, single submitter
Select item 3590473.	NM_004333.6(BRAF):c.2128-28dup GRCh37: Chr7:140434597-140434598 GRCh38: Chr7:140734797-140734798	BRAF		Cardio-facio-cutaneous syndrome, not specified, Noonan syndrome, Noonan syndrome with multiple lentigines	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 3590464.	NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT GRCh37: Chr7:140434586-140434597 GRCh38: Chr7:140734786-140734797	BRAF		Cardio-facio-cutaneous syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3590455.	NM_004333.6(BRAF):c.2128-16_2128-15del GRCh37: Chr7:140434585-140434586 GRCh38: Chr7:140734785-140734786	BRAF		Cardio-facio-cutaneous syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3590446.	NM_004333.6(BRAF):c.2128-4del GRCh37: Chr7:140434574 GRCh38: Chr7:140734774	BRAF		Cardio-facio-cutaneous syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3430927.	NM_002880.4(RAF1):c.*729AACA[4] GRCh37: Chr3:12625265-12625268 GRCh38: Chr3:12583766-12583769	RAF1		Noonan syndrome, Noonan syndrome with multiple lentigines	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3430918.	NM_002880.4(RAF1):c.*729AACA[6] GRCh37: Chr3:12625264-12625265 GRCh38: Chr3:12583765-12583766	RAF1		Noonan syndrome, Noonan syndrome with multiple lentigines	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3072549.	NM_002834.5(PTPN11):c.*2731G>A GRCh37: Chr12:112946327 GRCh38: Chr12:112508523	PTPN11		Noonan syndrome, Metachondromatosis, Noonan syndrome with multiple lentigines	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30724210.	NM_002834.5(PTPN11):c.*1157ATG[13] GRCh37: Chr12:112944751-112944756 GRCh38: Chr12:112506947-112506952	PTPN11		Noonan syndrome, Metachondromatosis, Noonan syndrome with multiple lentigines	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30724111.	NM_002834.5(PTPN11):c.*1157ATG[16] GRCh37: Chr12:112944750-112944751 GRCh38: Chr12:112506946-112506947	PTPN11		Noonan syndrome, Metachondromatosis, Noonan syndrome with multiple lentigines	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30724012.	NM_002834.5(PTPN11):c.*1157ATG[14] GRCh37: Chr12:112944751-112944753 GRCh38: Chr12:112506947-112506949	PTPN11		Noonan syndrome, Metachondromatosis, Noonan syndrome with multiple lentigines	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30723913.	NM_002834.5(PTPN11):c.*1157ATG[17] GRCh37: Chr12:112944750-112944751 GRCh38: Chr12:112506946-112506947	PTPN11		not provided, Metachondromatosis, Noonan syndrome, Noonan syndrome with multiple lentigines	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 30723614.	NM_002834.5(PTPN11):c.*1006del GRCh37: Chr12:112944602 GRCh38: Chr12:112506798	PTPN11		Noonan syndrome and Noonan-related syndrome, Noonan syndrome with multiple lentigines, Metachondromatosis, Noonan syndrome	Likely benign (Dec 20, 2016)	criteria provided, multiple submitters, no conflicts
Select item 30723015.	NM_002834.5(PTPN11):c.*656del GRCh37: Chr12:112944241 GRCh38: Chr12:112506437	PTPN11		Noonan syndrome, Metachondromatosis, Noonan syndrome with multiple lentigines	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30722716.	NM_002834.5(PTPN11):c.41_46del GRCh37: Chr12:112943635-112943640 GRCh38: Chr12:112505831-112505836	PTPN11		Noonan syndrome, not specified, Metachondromatosis, Noonan syndrome with multiple lentigines	Conflicting interpretations of pathogenicity (Aug 4, 2017)	criteria provided, conflicting interpretations
Select item 18150917.	NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) GRCh37: Chr3:12633259 GRCh38: Chr3:12591760	RAF1	D381N, D401N, D320N, D300N, D267N, D348N	RASopathy	Benign (Apr 18, 2017)	reviewed by expert panel FDA Recognized Database
Select item 17792318.	NM_002880.3(RAF1):c.-415-1C>G GRCh37: Chr3:12705701 GRCh38: Chr3:12664202	RAF1		not specified, not provided, Noonan syndrome, Noonan syndrome with multiple lentigines	Benign/Likely benign (Sep 21, 2020)	criteria provided, multiple submitters, no conflicts
Select item 4482119.	NM_004333.6(BRAF):c.2128-5del GRCh37: Chr7:140434575 GRCh38: Chr7:140734775	BRAF		Noonan syndrome and Noonan-related syndrome, Cardio-facio-cutaneous syndrome, not specified, RASopathy, Noonan syndrome, Noonan syndrome with multiple lentigines	Benign/Likely benign (May 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4482020.	NM_004333.6(BRAF):c.2128-5dup GRCh37: Chr7:140434574-140434575 GRCh38: Chr7:140734774-140734775	BRAF		Noonan syndrome and Noonan-related syndrome, not specified, RASopathy, Noonan syndrome, Noonan syndrome with multiple lentigines, Cardio-facio-cutaneous syndrome	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 4462521.	NM_002880.4(RAF1):c.321-14dup GRCh37: Chr3:12650847-12650848 GRCh38: Chr3:12609348-12609349	RAF1		not specified, RASopathy, not provided, Noonan syndrome, Noonan syndrome with multiple lentigines	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4081822.	NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) GRCh37: Chr19:4101030 GRCh38: Chr19:4101032	MAP2K2	R231L	Noonan syndrome and Noonan-related syndrome	Uncertain significance (May 10, 2019)	reviewed by expert panel FDA Recognized Database
Select item 4057323.	NM_002880.3(RAF1):c.-340_-339GA[1] GRCh37: Chr3:12705621-12705622 GRCh38: Chr3:12664122-12664123	RAF1		RASopathy	Benign (Nov 4, 2019)	reviewed by expert panel FDA Recognized Database
Select item 4056624.	NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) GRCh37: Chr12:112926908 GRCh38: Chr12:112489104	PTPN11	Q510E, Q514E, Q509E	PTPN11 Related Disorders, Cardiovascular phenotype, Noonan syndrome with multiple lentigines, Noonan syndrome, not provided, RASopathy, Noonan syndrome 3, Noonan syndrome 1, See cases	Pathogenic (May 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4056325.	NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) GRCh37: Chr12:112926897 GRCh38: Chr12:112489093	PTPN11	Q506P, Q510P, Q505P	PTPN11 Related Disorders, Cardiovascular phenotype, not provided, RASopathy, Noonan syndrome, Noonan syndrome with multiple lentigines	Pathogenic (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4055426.	NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) GRCh37: Chr12:112926873 GRCh38: Chr12:112489069	PTPN11	R498L, R502L, R497L	Noonan syndrome and Noonan-related syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome, not provided, RASopathy, LEOPARD syndrome 1, Noonan syndrome 1, Intellectual disability, mild, Cafe-au-lait spot, Specific learning disability, Abnormal facial shapeScoliosis, ...see more	Pathogenic (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4055327.	NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) GRCh37: Chr12:112926872 GRCh38: Chr12:112489068	PTPN11	R498W, R502W, R497W	Noonan syndrome and Noonan-related syndrome, Inborn genetic diseases, Noonan syndrome, Noonan syndrome with multiple lentigines, not provided, RASopathy, Noonan syndrome 1, LEOPARD syndrome 1, PTPN11-related condition, Metachondromatosis, Noonan syndrome 1Juvenile myelomonocytic leukemia, LEOPARD syndrome 1, ...see more	Pathogenic (Oct 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4054728.	NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro) GRCh37: Chr12:112926269 GRCh38: Chr12:112488465	PTPN11	T468P, T472P, T467P	Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, not provided, RASopathy, Noonan syndrome with multiple lentigines	Pathogenic (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4054629.	NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) GRCh37: Chr12:112926248 GRCh38: Chr12:112488444	PTPN11	A461S, A465S, A460S	RASopathy, not provided, LEOPARD syndrome 1, Noonan syndrome with multiple lentigines	Pathogenic (Oct 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4052530.	NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) GRCh37: Chr12:112910835 GRCh38: Chr12:112473031	PTPN11	I282V, I281V	PTPN11-related disorder, Inborn genetic diseases, Noonan syndrome and Noonan-related syndrome, Neurodevelopmental abnormality, Cardiovascular phenotype, Noonan syndrome with multiple lentigines, Noonan syndrome, LEOPARD syndrome 1, Noonan syndrome 1, LEOPARD syndrome 1, Noonan syndrome 1Juvenile myelomonocytic leukemia, Metachondromatosis, RASopathy, not provided, Noonan syndrome, Noonan syndrome 1, ...see more	Pathogenic (Aug 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4051831.	NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) GRCh37: Chr12:112910758 GRCh38: Chr12:112472954	PTPN11	Q256R, Q255R	Cardiovascular phenotype, Noonan syndrome, Noonan syndrome with multiple lentigines, not specified, not provided, RASopathy, Noonan syndrome 1	Pathogenic (Aug 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4050032.	NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) GRCh37: Chr12:112888198 GRCh38: Chr12:112450394	PTPN11	A72P, A71P	not provided, RASopathy, Noonan syndrome, Noonan syndrome with multiple lentigines	Pathogenic/Likely pathogenic (Jan 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4034833.	NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) GRCh37: Chr7:140501337 GRCh38: Chr7:140801537	BRAF	L245F, L211F, L157F, L248F, L193F	Noonan syndrome and Noonan-related syndrome	Pathogenic (May 10, 2019)	reviewed by expert panel FDA Recognized Database
Select item 2980734.	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) GRCh37: Chr7:140501351 GRCh38: Chr7:140801551	BRAF	T241P, T189P, T244P, T207P, T153P	Cardio-facio-cutaneous syndrome, not provided, Lung carcinoma, Noonan syndrome 1, LEOPARD syndrome 3, Noonan syndrome 7, Cardiofaciocutaneous syndrome 1, RASopathy, Noonan syndrome 7	Pathogenic/Likely pathogenic (Mar 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2134235.	NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) GRCh37: Chr3:12627244 GRCh38: Chr3:12585745	RAF1	T491I, T511I, T430I, T410I, T458I, T377I	RASopathy	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 2134136.	NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn) GRCh37: Chr3:12627260 GRCh38: Chr3:12585761	RAF1	D486N, D425N, D506N, D372N, D405N, D453N	Noonan syndrome with multiple lentigines	not provided	no assertion provided
Select item 1396037.	NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) GRCh37: Chr3:12626123 GRCh38: Chr3:12584624	RAF1	L613V, L633V, L499V, L580V, L552V, L532V	Noonan syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 1395738.	NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) GRCh37: Chr3:12645699 GRCh38: Chr3:12604200	RAF1	S257L, S224L, S143L, S176L	Noonan syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 1334439.	NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) GRCh37: Chr12:112926909 GRCh38: Chr12:112489105	PTPN11	Q510P, Q514P, Q509P	Noonan syndrome with multiple lentigines	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 1334340.	NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) GRCh37: Chr12:112926258 GRCh38: Chr12:112488454	PTPN11	G464A, G468A, G463A	Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, Noonan syndrome, Noonan syndrome with multiple lentigines, not provided, RASopathy, Noonan syndrome 1	Pathogenic (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1334241.	NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) GRCh37: Chr12:112926248 GRCh38: Chr12:112488444	PTPN11	A461T, A465T, A460T	PTPN11-related condition, not specified, not provided, RASopathy, Noonan syndrome 1, Noonan syndrome with multiple lentigines	Pathogenic (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1333142.	NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) GRCh37: Chr12:112926270 GRCh38: Chr12:112488466	PTPN11	T468M, T472M, T467M	Noonan syndrome with multiple lentigines	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 1332843.	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) GRCh37: Chr12:112910827 GRCh38: Chr12:112473023	PTPN11	Y279C, Y278C	Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, PTPN11-related condition, CBL-related disorder, Juvenile myelomonocytic leukemia, Noonan syndrome 1, LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome, Noonan syndrome with multiple lentigines, not specifiedRASopathy, not provided, LEOPARD syndrome 1, Noonan syndrome 1, Noonan syndrome with multiple lentigines, ...see more	Pathogenic/Likely pathogenic (Aug 16, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 43