ClinVar for MedGen (Select 349931) - ClinVar

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Items: 57

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18039981.	NM_004985.5(KRAS):c.440A>T (p.Lys147Met) GRCh37: Chr12:25378558 GRCh38: Chr12:25225624	KRAS	K147M	Noonan syndrome 3	Likely pathogenic (Feb 12, 2021)	criteria provided, single submitter
Select item 16954222.	NM_004985.5(KRAS):c.194_195insGGCAATGAGGGACCAGTACAG (p.Tyr64_Ser65insArgAlaMetArgAspGlnTyr) GRCh37: Chr12:25380263-25380264 GRCh38: Chr12:25227329-25227330	KRAS		Noonan syndrome 3	Pathogenic	criteria provided, single submitter
Select item 16954213.	NM_004985.5(KRAS):c.53C>T (p.Ala18Val) GRCh37: Chr12:25398266 GRCh38: Chr12:25245332	KRAS	A18V	Noonan syndrome 3	Pathogenic	criteria provided, single submitter
Select item 16764974.	NM_004985.5(KRAS):c.229G>T (p.Gly77Cys)	KRAS	G77C	Noonan syndrome 3	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 13333925.	NM_004985.5(KRAS):c.76A>C (p.Asn26His) GRCh37: Chr12:25398243 GRCh38: Chr12:25245309	KRAS	N26H	Noonan syndrome 3	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 10461396.	NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) GRCh37: Chr12:25378609-25378610 GRCh38: Chr12:25225675-25225676	KRAS	A130I	RASopathy, Carcinoma of pancreas, Malignant tumor of urinary bladder, Acute myeloid leukemia, Noonan syndrome 3, Cardiofaciocutaneous syndrome 2, Autoimmune lymphoproliferative syndrome type 4, Stomach cancer, Lung cancer, Toriello-Lacassie-Droste syndrome, Linear nevus sebaceous syndromeCerebral arteriovenous malformation, Familial cancer of breast, ...see more	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10302137.	NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) GRCh37: Chr10:112769525 GRCh38: Chr10:111009767	SHOC2	L447F, L493F	Noonan syndrome 3, Cardiovascular phenotype, RASopathy, not provided	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 10302128.	NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu) GRCh37: Chr10:112764550 GRCh38: Chr10:111004792	SHOC2	K341E, K387E	Noonan syndrome 3	Uncertain significance (Aug 17, 2019)	criteria provided, single submitter
Select item 9846449.	NM_004985.5(KRAS):c.202_204del (p.Arg68del) GRCh37: Chr12:25380254-25380256 GRCh38: Chr12:25227320-25227322	KRAS	R68del	Noonan syndrome 3	Likely pathogenic (Apr 3, 2020)	no assertion criteria provided
Select item 98463410.	NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs) GRCh37: Chr17:57743970-57743974 GRCh38: Chr17:59666609-59666613	CLTC	A639fs, A643fs	Noonan syndrome 3	Pathogenic (Apr 3, 2020)	no assertion criteria provided
Select item 88363511.	NM_004985.5(KRAS):c.111+8T>G GRCh37: Chr12:25398200 GRCh38: Chr12:25245266	KRAS		RASopathy, Noonan syndrome 3	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 63703012.	NM_004985.5(KRAS):c.451-5642A>T GRCh37: Chr12:25368487 GRCh38: Chr12:25215553	KRAS	E153V	Noonan syndrome 3	Likely pathogenic (Mar 27, 2018)	criteria provided, single submitter
Select item 62613013.	NM_033360.4(KRAS):c.112-5C>T GRCh37: Chr12:25380351 GRCh38: Chr12:25227417	KRAS		RASopathy, Linear nevus sebaceous syndrome, Acute myeloid leukemia, Autoimmune lymphoproliferative syndrome type 4, Cardiofaciocutaneous syndrome 2, Noonan syndrome 3, Linear nevus sebaceous syndrome, Acute myeloid leukemia, Carcinoma of pancreas, Autoimmune lymphoproliferative syndrome type 4, Cardiofaciocutaneous syndrome 2Familial cancer of breast, Toriello-Lacassie-Droste syndrome, Cerebral arteriovenous malformation, Malignant tumor of urinary bladder, Stomach cancer, Lung cancer, Noonan syndrome 3, ...see more	Conflicting interpretations of pathogenicity (May 18, 2022)	criteria provided, conflicting interpretations
Select item 62062514.	NM_033360.4(KRAS):c.101_106del GRCh37: Chr12:25362744-25362749 GRCh38: Chr12:25209810-25209815	KRAS		RASopathy, Noonan syndrome, Stomach cancer, Linear nevus sebaceous syndrome, Toriello-Lacassie-Droste syndrome, Cerebral arteriovenous malformation, Malignant tumor of urinary bladder, Noonan syndrome 3, Lung cancer, Autoimmune lymphoproliferative syndrome type 4, Carcinoma of pancreasAcute myeloid leukemia, Cardiofaciocutaneous syndrome 2, Familial cancer of breast, ...see more	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54751215.	NM_033360.4(KRAS):c.*44C>T GRCh37: Chr12:25362806 GRCh38: Chr12:25209872	KRAS	R164*	Noonan syndrome 3	Likely benign (Nov 1, 2016)	criteria provided, single submitter
Select item 49649116.	NM_033360.4(KRAS):c.4+5G>A GRCh37: Chr12:25368366 GRCh38: Chr12:25215432	KRAS		not provided, Carcinoma of pancreas, Lung cancer, Linear nevus sebaceous syndrome, Acute myeloid leukemia, Stomach cancer, Noonan syndrome 3, Toriello-Lacassie-Droste syndrome, Cerebral arteriovenous malformation, Malignant tumor of urinary bladder, Familial cancer of breastAutoimmune lymphoproliferative syndrome type 4, Cardiofaciocutaneous syndrome 2, ...see more	Benign/Likely benign (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49618917.	NM_002880.4(RAF1):c.788T>A (p.Val263Asp) GRCh37: Chr3:12645681 GRCh38: Chr3:12604182	RAF1	V263D, V149D, V230D, V182D	not provided, RASopathy, Noonan syndrome 3, LEOPARD syndrome 2, Noonan syndrome 5, Dilated cardiomyopathy 1NN	Pathogenic/Likely pathogenic (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43879618.	NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) GRCh37: Chr12:25380264 GRCh38: Chr12:25227330	KRAS	S65I	RASopathy	Likely pathogenic (May 18, 2020)	reviewed by expert panel FDA Recognized Database
Select item 43110319.	NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) GRCh37: Chr12:25378558 GRCh38: Chr12:25225624	KRAS	K147R	Noonan syndrome 3	Pathogenic (Aug 1, 2017)	criteria provided, single submitter
Select item 37955620.	NM_033360.4(KRAS):c.5-18A>G GRCh37: Chr12:25362863 GRCh38: Chr12:25209929	KRAS		not provided, RASopathy, Lung cancer, Linear nevus sebaceous syndrome, Cerebral arteriovenous malformation, Toriello-Lacassie-Droste syndrome, Malignant tumor of urinary bladder, Autoimmune lymphoproliferative syndrome type 4, Acute myeloid leukemia, Familial cancer of breast, Noonan syndrome 3Stomach cancer, Carcinoma of pancreas, Cardiofaciocutaneous syndrome 2, ...see more	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37631821.	NM_005343.4(HRAS):c.183G>T (p.Gln61His) GRCh37: Chr11:533873 GRCh38: Chr11:533873	HRAS, LRRC56	Q61H	Noonan syndrome 3	Likely pathogenic (May 22, 2017)	criteria provided, single submitter
Select item 18086122.	NM_033360.4(KRAS):c.389C>T (p.Ala130Val) GRCh37: Chr12:25378609 GRCh38: Chr12:25225675	KRAS	A130V	not provided, not specified, RASopathy, Noonan syndrome, Autoimmune lymphoproliferative syndrome type 4, Lung cancer, Noonan syndrome 3, Linear nevus sebaceous syndrome, Acute myeloid leukemia, Cardiofaciocutaneous syndrome 2, Familial cancer of breastStomach cancer, Cerebral arteriovenous malformation, Malignant tumor of urinary bladder, Toriello-Lacassie-Droste syndrome, Carcinoma of pancreas, ...see more	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18005223.	NM_004985.5(KRAS):c.451-5652C>T GRCh37: Chr12:25368497 GRCh38: Chr12:25215563	KRAS		not specified, Autoimmune lymphoproliferative syndrome type 4, Lung cancer, Noonan syndrome 3, Linear nevus sebaceous syndrome, Acute myeloid leukemia, Cardiofaciocutaneous syndrome 2, Familial cancer of breast, Stomach cancer, Cerebral arteriovenous malformation, Malignant tumor of urinary bladderToriello-Lacassie-Droste syndrome, Carcinoma of pancreas, ...see more	Likely benign (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17771424.	NM_004985.5(KRAS):c.112-9C>T GRCh37: Chr12:25380355 GRCh38: Chr12:25227421	KRAS		RASopathy, Autoimmune lymphoproliferative syndrome type 4, Lung cancer, Noonan syndrome 3, Linear nevus sebaceous syndrome, Acute myeloid leukemia, Cardiofaciocutaneous syndrome 2, Familial cancer of breast, Stomach cancer, Cerebral arteriovenous malformation, Malignant tumor of urinary bladderToriello-Lacassie-Droste syndrome, Carcinoma of pancreas, ...see more	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16499725.	NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) GRCh37: Chr12:112888190 GRCh38: Chr12:112450386	PTPN11	E69V, E68V	Noonan syndrome 3, Noonan syndrome	Likely pathogenic (Feb 4, 2019)	criteria provided, multiple submitters, no conflicts
Select item 16375826.	NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) GRCh37: Chr12:25362830 GRCh38: Chr12:25209896	KRAS	F156I	Noonan syndrome, Cardio-facio-cutaneous syndrome, not provided, Noonan syndrome 3	Pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13806127.	NM_033360.4(KRAS):c.90C>T (p.Asp30=) GRCh37: Chr12:25398229 GRCh38: Chr12:25245295	KRAS		RASopathy	Likely benign (Apr 18, 2017)	reviewed by expert panel FDA Recognized Database
Select item 4511928.	NM_004985.5(KRAS):c.24A>G (p.Val8=) GRCh37: Chr12:25398295 GRCh38: Chr12:25245361	KRAS		RASopathy	Likely benign (Apr 18, 2017)	reviewed by expert panel FDA Recognized Database
Select item 4461529.	NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) GRCh37: Chr12:112915456 GRCh38: Chr12:112477652	PTPN11	F285L, F284L	not provided, RASopathy, Noonan syndrome, Noonan syndrome 1, Noonan syndrome 3	Pathogenic (May 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4070130.	NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) GRCh37: Chr2:39239460 GRCh38: Chr2:39012319	SOS1	I733F, I726F	not provided, RASopathy, Noonan syndrome 4, Noonan syndrome 3	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4068331.	NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) GRCh37: Chr2:39249914 GRCh38: Chr2:39022773	SOS1	R552K, R545K	Noonan syndrome	Pathogenic (May 10, 2019)	reviewed by expert panel FDA Recognized Database
Select item 4056632.	NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) GRCh37: Chr12:112926908 GRCh38: Chr12:112489104	PTPN11	Q510E, Q514E, Q509E	Cardiovascular phenotype, Noonan syndrome with multiple lentigines, Noonan syndrome, not provided, RASopathy, Noonan syndrome 1, Noonan syndrome 3, See cases	Pathogenic (May 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4052833.	NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) GRCh37: Chr12:112910844 GRCh38: Chr12:112473040	PTPN11	F285L, F284L	Inborn genetic diseases, Juvenile myelomonocytic leukemia, Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1, not provided, RASopathy, Noonan syndrome, LEOPARD syndrome 1, Noonan syndrome 1, Noonan syndrome 3 ...see more	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4051334.	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) GRCh37: Chr12:112891083 GRCh38: Chr12:112453279	PTPN11	E139D, E138D	Noonan syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 4050735.	NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) GRCh37: Chr12:112888312 GRCh38: Chr12:112450508	PTPN11	E110K, E109K	Noonan syndrome and Noonan-related syndrome, not provided, RASopathy, Noonan syndrome, Noonan syndrome 3	Pathogenic/Likely pathogenic (Aug 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4049936.	NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) GRCh37: Chr12:112888195 GRCh38: Chr12:112450391	PTPN11	F71L, F70L	not provided, RASopathy, Noonan syndrome, Noonan syndrome 3	Pathogenic/Likely pathogenic (Sep 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4049537.	NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) GRCh37: Chr12:112888165 GRCh38: Chr12:112450361	PTPN11	D61N, D60N	Noonan syndrome and Noonan-related syndrome, Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis, not provided, Cardiovascular phenotype, Noonan syndrome 1, Noonan syndrome 1, LEOPARD syndrome 1Noonan syndrome, LEOPARD syndrome 1, RASopathy, Noonan syndrome 3, ...see more	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4049438.	NM_002834.5(PTPN11):c.181G>C (p.Asp61His) GRCh37: Chr12:112888165 GRCh38: Chr12:112450361	PTPN11	D61H, D60H	Cardiovascular phenotype, not provided, Noonan syndrome 3	Pathogenic (May 22, 2020)	criteria provided, multiple submitters, no conflicts
Select item 4048839.	NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) GRCh37: Chr12:112888158 GRCh38: Chr12:112450354	PTPN11	N58K, N57K	Noonan syndrome and Noonan-related syndrome, not provided, RASopathy, Noonan syndrome, Noonan syndrome 1, Noonan syndrome 3	Pathogenic (Jun 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4046440.	NM_004985.5(KRAS):c.451-9G>A GRCh37: Chr12:25362854 GRCh38: Chr12:25209920	KRAS		not provided, not specified, RASopathy, Noonan syndrome 3	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4046041.	NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) GRCh37: Chr12:25378643 GRCh38: Chr12:25225709	KRAS	D119N	Autoimmune lymphoproliferative syndrome type 4, Acute myeloid leukemia, Cardiofaciocutaneous syndrome 2, Noonan syndrome 3, not provided, KRAS-related RASopathy	Likely pathogenic (Sep 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 4045442.	NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) GRCh37: Chr12:25398218 GRCh38: Chr12:25245284	KRAS	P34L	Noonan syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 4045243.	NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) GRCh37: Chr12:25398254 GRCh38: Chr12:25245320	KRAS	Q22R	Noonan syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 1334444.	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 1334045.	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) GRCh37: Chr12:112888220 GRCh38: Chr12:112450416	PTPN11	Q79R, Q78R	Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, LEOPARD syndrome 1, Metachondromatosis, Juvenile myelomonocytic leukemia, Noonan syndrome 1, not provided, RASopathy, Noonan syndrome, Noonan syndrome 3, Noonan syndrome 1 ...see more	Pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1333346.	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) GRCh37: Chr12:112888172 GRCh38: Chr12:112450368	PTPN11	Y63C, Y62C	Noonan syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 1332747.	NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) GRCh37: Chr12:112915524 GRCh38: Chr12:112477720	PTPN11	N308S, N307S	Noonan syndrome and Noonan-related syndrome, LEOPARD syndrome 1, Noonan syndrome 1, LEOPARD syndrome 1, Metachondromatosis, Juvenile myelomonocytic leukemia, Noonan syndrome 1, LEOPARD syndrome 1, not provided, Noonan syndrome 1, RASopathyNoonan syndrome, Noonan syndrome 3, PTPN11 Related Disorders, ...see more	Pathogenic (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1332548.	NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) GRCh37: Chr12:112888199 GRCh38: Chr12:112450395	PTPN11	A72G, A71G	Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, LEOPARD syndrome 1, Metachondromatosis, Juvenile myelomonocytic leukemia, Noonan syndrome 1, not provided, RASopathy, Noonan syndrome, Noonan syndrome 3, Noonan syndrome 1 ...see more	Pathogenic/Likely pathogenic (Jul 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1260149.	NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) GRCh37: Chr11:533875 GRCh38: Chr11:533875	HRAS, LRRC56	Q61K	not provided, Noonan syndrome 3	Pathogenic/Likely pathogenic (Aug 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 1259750.	NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) GRCh37: Chr12:25380280 GRCh38: Chr12:25227346	KRAS	G60S	Cardiofaciocutaneous syndrome 2, not provided, RASopathy, Noonan syndrome 3	Pathogenic (Nov 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1259651.	NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) GRCh37: Chr12:25398306 GRCh38: Chr12:25245372	KRAS	K5E	not provided, Noonan syndrome, RASopathy, Noonan syndrome 3	Pathogenic/Likely pathogenic (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1259152.	NM_033360.4(KRAS):c.*9T>G GRCh37: Chr12:25362841 GRCh38: Chr12:25209907	KRAS	V152G	Noonan syndrome 3	Pathogenic (Jul 1, 2006)	no assertion criteria provided
Select item 1259053.	NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) GRCh37: Chr12:25398218 GRCh38: Chr12:25245284	KRAS	P34R	Acute myeloid leukemia, Noonan syndrome 3, Cardiofaciocutaneous syndrome 2, Autoimmune lymphoproliferative syndrome type 4, Cardio-facio-cutaneous syndrome, Noonan syndrome, not provided, RASopathy	Pathogenic/Likely pathogenic (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1258954.	NM_004985.5(KRAS):c.40G>A (p.Val14Ile) GRCh37: Chr12:25398279 GRCh38: Chr12:25245345	KRAS	V14I	Noonan syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 1258855.	NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) GRCh37: Chr12:25380285 GRCh38: Chr12:25227351	KRAS	T58I	Noonan syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 1258756.	NM_004985.5(KRAS):c.458A>T (p.Asp153Val) GRCh37: Chr12:25362838 GRCh38: Chr12:25209904	KRAS	D153V	Noonan syndrome	Pathogenic (Nov 15, 2018)	reviewed by expert panel FDA Recognized Database
Select item 1258657.	NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) GRCh37: Chr12:25380280 GRCh38: Chr12:25227346	KRAS	G60R	Cardio-facio-cutaneous syndrome	Pathogenic (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database

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Items: 57