ClinVar for MedGen (Select 349931) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238829	NM_004985.5(KRAS):c.202A>T (p.Arg68Trp)	KRAS (R68W)	Single nucleotide variant (missense variant)	Noonan syndrome 3	GLikely pathogenic
Select item 1803998	NM_004985.5(KRAS):c.440A>T (p.Lys147Met)	KRAS (K147M)	Single nucleotide variant (missense variant)	Noonan syndrome 3	GLikely pathogenic
Select item 1695422	NM_004985.5(KRAS):c.194_195insGGCAATGAGGGACCAGTACAG (p.Tyr64_Ser65insArgAlaMetArgAspGlnTyr)	KRAS	Insertion (inframe_insertion)	Noonan syndrome 3	GPathogenic
Select item 1695421	NM_004985.5(KRAS):c.53C>T (p.Ala18Val)	KRAS (A18V)	Single nucleotide variant (missense variant)	Noonan syndrome 3	GPathogenic
Select item 1676497	NM_004985.5(KRAS):c.229G>T (p.Gly77Cys)	KRAS (G77C)	Single nucleotide variant	Noonan syndrome 3	GLikely pathogenic
Select item 1333392	NM_004985.5(KRAS):c.76A>C (p.Asn26His)	KRAS (N26H)	Single nucleotide variant (missense variant)	Noonan syndrome 3	GUncertain significance
Select item 1046139	NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)	KRAS (A130I)	Indel (missense variant)	Autoimmune lymphoproliferative syndrome type 4 +12 more	GUncertain significance
Select item 1030213	NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)	SHOC2 (L447F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1030212	NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu)	SHOC2 (K341E +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 3	GUncertain significance
Select item 984644	NM_004985.5(KRAS):c.202_204del (p.Arg68del)	KRAS (R68del)	Deletion (inframe_deletion)	Noonan syndrome 3	GLikely pathogenic
Select item 984634	NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs)	CLTC (A639fs +1 more)	Indel (frameshift variant)	Noonan syndrome 3	GPathogenic
Select item 883635	NM_004985.5(KRAS):c.111+8T>G	KRAS	Single nucleotide variant (intron variant)	Noonan syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 637030	NM_004985.5(KRAS):c.451-5642A>T	KRAS (E153V)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 3	GLikely pathogenic
Select item 636802	NM_033360.4(KRAS):c.189G>C (p.Glu63Asp)	KRAS (E63D)	Single nucleotide variant (missense variant)	Noonan syndrome 3 +1 more	GLikely pathogenic
Select item 626130	NM_033360.4(KRAS):c.112-5C>T	KRAS	Single nucleotide variant (intron variant)	RASopathy +12 more	GConflicting classifications of pathogenicity
Select item 620625	NM_033360.4(KRAS):c.101_106del	KRAS	Deletion (3 prime UTR variant +1 more)	RASopathy +14 more	GConflicting classifications of pathogenicity
Select item 547512	NM_033360.4(KRAS):c.*44C>T	KRAS (R164*)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 3	GLikely benign
Select item 496491	NM_033360.4(KRAS):c.4+5G>A	KRAS	Single nucleotide variant (intron variant)	Lung cancer +12 more	GBenign/Likely benign
Select item 496189	NM_002880.4(RAF1):c.788T>A (p.Val263Asp)	RAF1 (V263D +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +5 more	GPathogenic/Likely pathogenic
Select item 438796	NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)	KRAS (S65I)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 431103	NM_033360.4(KRAS):c.440A>G (p.Lys147Arg)	KRAS (K147R)	Single nucleotide variant (missense variant)	Noonan syndrome 3	GPathogenic
Select item 379556	NM_033360.4(KRAS):c.5-18A>G	KRAS	Single nucleotide variant (intron variant)	not provided +13 more	GBenign/Likely benign
Select item 376318	NM_005343.4(HRAS):c.183G>T (p.Gln61His)	HRAS, LRRC56 (Q61H)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 3	GLikely pathogenic
Select item 180861	NM_033360.4(KRAS):c.389C>T (p.Ala130Val)	KRAS (A130V)	Single nucleotide variant (missense variant)	Noonan syndrome 3 +15 more	GUncertain significance
Select item 180052	NM_004985.5(KRAS):c.451-5652C>T	KRAS	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 2 +12 more	GLikely benign
Select item 177714	NM_004985.5(KRAS):c.112-9C>T	KRAS	Single nucleotide variant (intron variant)	RASopathy +12 more	GLikely benign
Select item 164997	NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)	PTPN11 (E69V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 163758	NM_004985.5(KRAS):c.466T>A (p.Phe156Ile)	KRAS (F156I)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome +3 more	GPathogenic
Select item 138061	NM_033360.4(KRAS):c.90C>T (p.Asp30=)	KRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 45122	NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	KRAS (G12A)	Single nucleotide variant (missense variant)	KRAS-related disorder +13 more	GPathogenic/Likely pathogenic OOncogenic
Select item 45119	NM_004985.5(KRAS):c.24A>G (p.Val8=)	KRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 44615	NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)	PTPN11 (F285L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 40701	NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)	SOS1 (I733F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 40683	NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	SOS1 (R552K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40566	NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	PTPN11 (Q510E +2 more)	Single nucleotide variant (missense variant)	PTPN11-related disorder +8 more	GPathogenic
Select item 40528	NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	PTPN11 (F285L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +8 more	GPathogenic
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40507	NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)	PTPN11 (E110K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +5 more	GPathogenic/Likely pathogenic
Select item 40499	NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)	PTPN11 (F71L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 40494	NM_002834.5(PTPN11):c.181G>C (p.Asp61His)	PTPN11 (D61H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 40488	NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)	PTPN11 (N58K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +8 more	GPathogenic
Select item 40464	NM_004985.5(KRAS):c.451-9G>A	KRAS	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 40460	NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	KRAS (D119N)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 4 +5 more	GLikely pathogenic
Select item 40454	NM_004985.5(KRAS):c.101C>T (p.Pro34Leu)	KRAS (P34L)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40452	NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	KRAS (Q22R)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 13344	NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	PTPN11 (Q510P +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome with multiple lentigines	GPathogenic FDA Recognized database
Select item 13340	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	PTPN11 (Q79R +1 more)	Single nucleotide variant (missense variant)	PTPN11-related disorder +10 more	GPathogenic
Select item 13333	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	PTPN11 (Y63C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 13327	NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	PTPN11 (N308S +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +9 more	GPathogenic
Select item 13325	NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	PTPN11 (A72G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
Select item 12601	NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)	HRAS, LRRC56 (Q61K)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +2 more	GPathogenic/Likely pathogenic
Select item 12597	NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)	KRAS (G60S)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 2 +3 more	GPathogenic
Select item 12596	NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)	KRAS (K5E)	Single nucleotide variant (missense variant)	Noonan syndrome 3 +4 more	GPathogenic/Likely pathogenic
Select item 12591	NM_033360.4(KRAS):c.*9T>G	KRAS (V152G)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 3	GPathogenic
Select item 12590	NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)	KRAS (P34R)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic/Likely pathogenic
Select item 12589	NM_004985.5(KRAS):c.40G>A (p.Val14Ile)	KRAS (V14I)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12588	NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)	KRAS (T58I)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12587	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS (D153V)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12586	NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)	KRAS (G60R)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database

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Links from MedGen

Items: 59