ClinVar for MedGen (Select 1638960) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024292	NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)	PTPN11 (Y262N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +3 more	GLikely pathogenic
Select item 2692574	NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)	PTPN11 (Y395C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely pathogenic
Select item 2674586	NM_006506.5(RASA2):c.716C>T (p.Ser239Phe)	RASA2 (S239F)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely pathogenic
Select item 2674585	NM_004333.6(BRAF):c.741T>A (p.Phe247Leu)	BRAF (F159L +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GPathogenic
Select item 2582571	NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)	PTPN11 (F70L +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +2 more	GLikely pathogenic
Select item 2579162	NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)	PTPN11 (S364R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GUncertain significance
Select item 2443303	NM_006767.4(LZTR1):c.690C>G (p.Asn230Lys)	LZTR1 (N230K)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely pathogenic
Select item 2429478	NM_002834.5(PTPN11):c.501G>C (p.Val167=)	PTPN11	Single nucleotide variant (synonymous variant)	Noonan syndrome 1	GUncertain significance
Select item 2196325	NM_002834.5(PTPN11):c.500T>C (p.Val167Ala)	PTPN11 (V167A +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +1 more	GUncertain significance
Select item 1805416	NM_002834.5(PTPN11):c.1205A>C (p.Lys402Thr)	PTPN11 (K401T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GUncertain significance
Select item 1805026	NM_002834.5(PTPN11):c.1493G>A (p.Arg498Gln)	PTPN11 (R497Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely pathogenic
Select item 1709139	NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)	PTPN11 (S498P +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely pathogenic
Select item 1651604	NM_004333.6(BRAF):c.1432+17_1432+19del	BRAF	Microsatellite (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GBenign/Likely benign
Select item 1634362	NM_002755.4(MAP2K1):c.693+20T>C	MAP2K1	Single nucleotide variant (intron variant)	Noonan syndrome 1 +3 more	GLikely benign
Select item 1624632	NM_004333.6(BRAF):c.1338G>A (p.Ser446=)	BRAF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GLikely benign
Select item 1598388	NM_002834.5(PTPN11):c.14+11C>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy +4 more	GLikely benign
Select item 1593486	NM_004333.6(BRAF):c.1433-18G>A	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GLikely benign
Select item 1569131	NM_004333.6(BRAF):c.298T>C (p.Leu100=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy +7 more	GLikely benign
Select item 1554615	NM_004333.6(BRAF):c.1992+15C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy +7 more	GLikely benign
Select item 1553042	NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +4 more	GLikely benign
Select item 1545692	NM_004333.6(BRAF):c.2128-27_2128-19del	BRAF	Deletion (intron variant)	RASopathy +7 more	GLikely benign
Select item 1502687	NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)	PTPN11 (E97K +1 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 1485945	NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)	PTPN11 (Y62N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +1 more	GLikely pathogenic
Select item 1478309	NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)	BRAF (A42S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GUncertain significance
Select item 1463473	NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)	PTPN11 (Q504E +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1445848	NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)	BRAF (G9A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 1428855	NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)	PTPN11 (P561L +2 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +4 more	GUncertain significance
Select item 1422308	NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)	PTPN11 (D188G +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +4 more	GUncertain significance
Select item 1422291	NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)	PTPN11 (Q257R +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 1410272	NM_004333.6(BRAF):c.2140A>G (p.Ile714Val)	BRAF (I662V +7 more)	Single nucleotide variant (missense variant +1 more)	Lung cancer +7 more	GUncertain significance
Select item 1367799	NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)	PTPN11 (R231* +1 more)	Single nucleotide variant (nonsense)	Noonan syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1341338	NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)	PTPN11 (L43V)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +4 more	GUncertain significance
Select item 1339747	NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)	PTPN11 (E109G +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +5 more	GConflicting classifications of pathogenicity
Select item 1334201	NM_004333.6(BRAF):c.2128-10_2128-9insC	BRAF	Insertion (intron variant)	Cardiofaciocutaneous syndrome 1 +8 more	GBenign/Likely benign
Select item 1320770	NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)	BRAF, LOC126860202 (R266Q +4 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 3 +8 more	GUncertain significance
Select item 1311645	NM_002834.5(PTPN11):c.957C>T (p.Asn319=)	PTPN11	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1219871	NM_004333.6(BRAF):c.260G>A (p.Ser87Asn)	BRAF (S35N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1205197	NM_004333.6(BRAF):c.1993-11T>C	BRAF	Single nucleotide variant (intron variant)	Lung cancer +8 more	GLikely benign
Select item 1194782	NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)	PTPN11 (R288G +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 1154928	NM_004333.6(BRAF):c.1848C>A (p.Ser616=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +8 more	GLikely benign
Select item 1147384	NM_004333.6(BRAF):c.1719C>A (p.Ile573=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +7 more	GLikely benign
Select item 1091347	NM_004333.6(BRAF):c.915G>A (p.Ala305=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1070042	NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)	NRAS (T58I)	Single nucleotide variant (missense variant)	Colorectal cancer +3 more	GPathogenic/Likely pathogenic
Select item 1047782	NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)	BRAF (A38P)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GUncertain significance
Select item 1027635	NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 992443	NM_002834.5(PTPN11):c.854-14T>A	PTPN11	Single nucleotide variant (intron variant)	Noonan syndrome 1	GUncertain significance
Select item 987743	NM_002834.5(PTPN11):c.179G>A (p.Gly60Asp)	PTPN11 (G59D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 982429	NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)	PTPN11 (E257K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely pathogenic
Select item 982417	NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr)	PTPN11 (I469T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely pathogenic
Select item 981584	NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)	PTPN11 (I220M +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 978848	NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)	PTPN11 (V427L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 956230	NM_006767.4(LZTR1):c.851G>A (p.Arg284His)	LZTR1 (R284H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 950704	NM_002834.5(PTPN11):c.222G>A (p.Leu74=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +4 more	GConflicting classifications of pathogenicity
Select item 910575	NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)	BRAF (S342P +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +7 more	GUncertain significance
Select item 883489	NM_002834.5(PTPN11):c.*2629A>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GBenign/Likely benign
Select item 883488	NM_002834.5(PTPN11):c.*2608C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 883395	NM_002834.5(PTPN11):c.*1038G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 883351	NM_002834.5(PTPN11):c.*684G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 883350	NM_002834.5(PTPN11):c.*682T>C	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 882713	NM_002834.5(PTPN11):c.*2179C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 882664	NM_002834.5(PTPN11):c.*1616C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882617	NM_002834.5(PTPN11):c.*802G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 882569	NM_002834.5(PTPN11):c.*673G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882568	NM_002834.5(PTPN11):c.*474A>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882403	NM_002834.3(PTPN11):c.-291G>A	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 882350	NM_002834.5(PTPN11):c.*801C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GBenign/Likely benign
Select item 882349	NM_002834.5(PTPN11):c.*799G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882209	NM_002834.5(PTPN11):c.-71C>T	PTPN11	Single nucleotide variant (5 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882208	NM_002834.5(PTPN11):c.-77G>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 882155	NM_002834.3(PTPN11):c.-317C>G	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 881551	NM_002834.5(PTPN11):c.*2150G>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 881550	NM_002834.5(PTPN11):c.*2096T>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 881504	NM_002834.5(PTPN11):c.*1520C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 881174	NM_002834.5(PTPN11):c.*3971A>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 881125	NM_002834.5(PTPN11):c.*2822A>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 881086	NM_002834.5(PTPN11):c.*2078G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GBenign/Likely benign
Select item 881085	NM_002834.5(PTPN11):c.*1830G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 881046	NM_002834.5(PTPN11):c.*1419G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 880986	NM_002834.5(PTPN11):c.*720C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 880940	NM_002834.5(PTPN11):c.*64C>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 880817	NM_002834.5(PTPN11):c.-151C>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 880816	NM_002834.5(PTPN11):c.-161T>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 880815	NM_002834.4(PTPN11):c.-176G>T	PTPN11	Single nucleotide variant	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 852241	NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)	PTPN11 (V432L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 811634	NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)	PTPN11 (Q509H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 807476	NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu)	PTPN11 (P423L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely pathogenic
Select item 804361	NM_004004.6(GJB2):c.205T>C (p.Phe69Leu)	GJB2 (F69L)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GPathogenic
Select item 804174	NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)	PTPN11 (Q257del +1 more)	Microsatellite (inframe_deletion)	PTPN11-related condition +6 more	GConflicting classifications of pathogenicity
Select item 801667	NM_005633.4(SOS1):c.1653_1655del (p.Arg552del)	SOS1 (R552del +1 more)	Deletion (inframe_deletion)	Noonan syndrome 1	GLikely pathogenic
Select item 704330	NM_004333.6(BRAF):c.1206C>A (p.Pro402=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GLikely benign
Select item 699634	NM_002834.5(PTPN11):c.616T>C (p.Leu206=)	PTPN11	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +7 more	GLikely benign
Select item 694723	NM_006912.6(RIT1):c.91G>C (p.Gly31Arg)	RIT1 (G31R +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 8 +2 more	GPathogenic/Likely pathogenic
Select item 694696	NM_006912.6(RIT1):c.245T>C (p.Phe82Ser)	RIT1 (F46S +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GPathogenic
Select item 691718	NM_004333.6(BRAF):c.1205C>A (p.Pro402His)	BRAF (P402H +5 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 3 +10 more	GUncertain significance
Select item 647494	NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)	PTPN11	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 636792	NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro)	LZTR1 (S244P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 636262	NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)	SOS1 (F623I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 597106	NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)	PTPN11 (V382I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 591599	NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu)	PTPN11 (P454L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 582017	NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)	MAP2K1 (P321S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity

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