ClinVar for MedGen (Select 339908) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061909	NM_005633.4(SOS1):c.157T>G (p.Leu53Val)	SOS1 (L46V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 2663981	NM_005633.4(SOS1):c.1674G>A (p.Met558Ile)	SOS1 (M551I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 2584349	NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)	SOS1 (P102L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GLikely pathogenic
Select item 2582620	NM_005633.4(SOS1):c.196A>G (p.Ser66Gly)	SOS1 (S59G +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 2500090	NM_005633.4(SOS1):c.1379A>G (p.His460Arg)	SOS1 (H453R +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 2444869	NM_005633.4(SOS1):c.1698G>C (p.Gln566His)	SOS1 (Q559H +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 2047484	NM_005633.4(SOS1):c.2973T>G (p.Phe991Leu)	SOS1 (F991L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 1806113	NM_005633.4(SOS1):c.1393_1394delinsTT (p.Asp465Phe)	SOS1 (D458F +1 more)	Indel (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 1804993	NM_005633.4(SOS1):c.2861A>C (p.Glu954Ala)	SOS1 (E947A +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GLikely benign
Select item 1804174	NM_005633.4(SOS1):c.445G>A (p.Val149Ile)	SOS1 (V142I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GLikely pathogenic
Select item 1761641	NM_005633.4(SOS1):c.800T>C (p.Val267Ala)	SOS1 (V260A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1710934	NM_005633.4(SOS1):c.720+1G>A	SOS1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1701758	NM_005633.4(SOS1):c.2930A>G (p.Gln977Arg)	SOS1 (Q970R +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +2 more	GUncertain significance
Select item 1698762	NM_005633.4(SOS1):c.2764A>G (p.Ile922Val)	SOS1 (I915V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 1695867	NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp)	SOS1 (E583D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1695420	NM_005633.4(SOS1):c.137A>T (p.Gln46Leu)	SOS1 (Q39L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 1695418	NM_005633.4(SOS1):c.1009T>C (p.Tyr337His)	SOS1 (Y330H +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GLikely pathogenic
Select item 1693296	NM_005633.4(SOS1):c.1019C>A (p.Pro340His)	SOS1 (P333H +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 1687418	NM_005633.4(SOS1):c.2117G>A (p.Arg706Lys)	SOS1 (R699K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 1679803	NM_005633.4(SOS1):c.1074+1966C>G	SOS1	Single nucleotide variant (intron variant)	Noonan syndrome 4	GUncertain significance
Select item 1679627	NM_005633.4(SOS1):c.541G>A (p.Glu181Lys)	SOS1 (E174K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 1677674	NM_005633.4(SOS1):c.2351T>C (p.Ile784Thr)	SOS1 (I777T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1660568	NM_005633.4(SOS1):c.3033C>T (p.Asn1011=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 1637250	NM_005633.4(SOS1):c.3795T>G (p.Ser1265=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 1624960	NM_005633.4(SOS1):c.3693A>G (p.Leu1231=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1615426	NM_005633.4(SOS1):c.771A>G (p.Val257=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 1594072	NM_005633.4(SOS1):c.66A>G (p.Leu22=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +3 more	GLikely benign
Select item 1583556	NM_005633.4(SOS1):c.2007C>G (p.Pro669=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1582239	NM_005633.4(SOS1):c.3987T>C (p.Asn1329=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1570021	NM_005633.4(SOS1):c.795T>C (p.Asp265=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1546368	NM_005633.4(SOS1):c.9G>A (p.Ala3=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +3 more	GLikely benign
Select item 1539149	NM_005633.4(SOS1):c.2517T>C (p.Ile839=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1522383	NM_005633.4(SOS1):c.2513G>A (p.Cys838Tyr)	SOS1 (C831Y +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GUncertain significance
Select item 1518896	NM_005633.4(SOS1):c.2567T>C (p.Ile856Thr)	SOS1 (I856T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1517561	NM_005633.4(SOS1):c.1640G>A (p.Arg547Gln)	SOS1 (R547Q +1 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 1499402	NM_005633.4(SOS1):c.1686G>T (p.Glu562Asp)	SOS1 (E555D +1 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 1492084	NM_005633.4(SOS1):c.2446A>G (p.Ile816Val)	SOS1 (I809V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1487293	NM_005633.4(SOS1):c.560C>A (p.Ser187Tyr)	SOS1 (S187Y +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GUncertain significance
Select item 1472902	NM_005633.4(SOS1):c.3502C>G (p.Pro1168Ala)	SOS1 (P1168A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1466293	NM_005633.4(SOS1):c.548T>C (p.Ile183Thr)	SOS1 (I183T +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GUncertain significance
Select item 1450756	NM_005633.4(SOS1):c.2661C>A (p.Asp887Glu)	SOS1 (D880E +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 1450606	NM_005633.4(SOS1):c.976-3dup	SOS1	Duplication (intron variant)	RASopathy +2 more	GUncertain significance
Select item 1429499	NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser)	SOS1 (L790S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1426861	NM_005633.4(SOS1):c.864+3A>G	SOS1	Single nucleotide variant (intron variant)	RASopathy +3 more	GUncertain significance
Select item 1420008	NM_005633.4(SOS1):c.7G>T (p.Ala3Ser)	LOC129933535, SOS1 (A3S)	Single nucleotide variant (missense variant +1 more)	Fibromatosis, gingival, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1415741	NM_005633.4(SOS1):c.1859-3T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy +3 more	GUncertain significance
Select item 1413741	NM_005633.4(SOS1):c.464A>G (p.Tyr155Cys)	SOS1 (Y155C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1413657	NM_005633.4(SOS1):c.3748C>T (p.Pro1250Ser)	SOS1 (P1250S +2 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 1353435	NM_005633.4(SOS1):c.1266G>A (p.Met422Ile)	SOS1 (M415I +1 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 1342543	NM_005633.4(SOS1):c.743G>T (p.Arg248Leu)	SOS1 (R241L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 1342541	NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg)	SOS1 (T1254R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1339073	NM_005633.4(SOS1):c.543A>C (p.Glu181Asp)	SOS1 (E174D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 1335388	NM_005633.4(SOS1):c.3709C>T (p.Pro1237Ser)	SOS1 (P1222S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1334299	NM_005633.4(SOS1):c.599C>G (p.Thr200Ser)	SOS1 (T193S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1334295	NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr)	SOS1 (I422T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +2 more	GUncertain significance
Select item 1334293	NM_005633.4(SOS1):c.1935A>G (p.Ile645Met)	SOS1 (I638M +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 1334289	NM_005633.4(SOS1):c.3610A>G (p.Ile1204Val)	SOS1 (I1189V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1333569	NM_005633.4(SOS1):c.925G>A (p.Asp309Asn)	SOS1 (D302N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GLikely pathogenic
Select item 1329530	NM_005633.4(SOS1):c.3451C>T (p.Pro1151Ser)	SOS1 (P1136S +2 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GUncertain significance
Select item 1327057	NM_005633.4(SOS1):c.3352G>T (p.Asp1118Tyr)	SOS1 (D1111Y +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 4	GUncertain significance
Select item 1321399	NM_005633.4(SOS1):c.3438A>G (p.Glu1146=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1312787	NM_005633.4(SOS1):c.1690G>A (p.Glu564Lys)	SOS1 (E557K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1311640	NM_005633.4(SOS1):c.2491C>G (p.Leu831Val)	SOS1 (L824V +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +4 more	GUncertain significance
Select item 1308834	NM_005633.4(SOS1):c.1988T>C (p.Ile663Thr)	SOS1 (I656T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1307431	NM_005633.4(SOS1):c.1333A>G (p.Ile445Val)	SOS1 (I438V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1306544	NM_005633.4(SOS1):c.2356C>T (p.Arg786Ter)	SOS1 (R779* +1 more)	Single nucleotide variant (nonsense)	Noonan syndrome 4 +3 more	GUncertain significance
Select item 1305201	NM_005633.4(SOS1):c.754A>G (p.Ile252Val)	SOS1 (I245V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1294224	NM_005633.4(SOS1):c.1956G>A (p.Glu652=)	SOS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1294221	NM_005633.4(SOS1):c.984C>T (p.Gly328=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1290042	NM_005633.4(SOS1):c.87+15G>C	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign/Likely benign
Select item 1285405	NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly)	SOS1 (D423G +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 1245981	NM_005633.4(SOS1):c.1203-8T>C	SOS1	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1208648	NM_005633.4(SOS1):c.3737A>G (p.Asn1246Ser)	SOS1 (N1231S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1200745	NM_005633.4(SOS1):c.2684G>A (p.Ser895Asn)	SOS1 (S888N +1 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 1200609	NM_005633.4(SOS1):c.3707C>T (p.Pro1236Leu)	SOS1 (P1221L +2 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 1194559	NM_005633.4(SOS1):c.1983A>G (p.Ile661Met)	SOS1 (I654M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1194222	NM_005633.4(SOS1):c.1995T>C (p.Asn665=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy +4 more	GLikely benign
Select item 1184719	NM_005633.4(SOS1):c.38A>G (p.Glu13Gly)	LOC129933535, SOS1 (E13G)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1181716	NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu)	SOS1 (K428E +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +4 more	GUncertain significance
Select item 1177275	NM_005633.4(SOS1):c.754A>C (p.Ile252Leu)	SOS1 (I245L +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 1163704	NM_005633.4(SOS1):c.1291G>A (p.Gly431Ser)	SOS1 (G424S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1160463	NM_005633.4(SOS1):c.2454T>C (p.Ser818=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 1143950	NM_005633.4(SOS1):c.429G>A (p.Lys143=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy +4 more	GLikely benign
Select item 1116089	NM_005633.4(SOS1):c.2604T>C (p.Phe868=)	SOS1	Single nucleotide variant (synonymous variant)	Fibromatosis, gingival, 1 +3 more	GLikely benign
Select item 1108028	NM_005633.4(SOS1):c.1035C>G (p.Ala345=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1101019	NM_005633.4(SOS1):c.3732T>C (p.His1244=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 1094962	NM_005633.4(SOS1):c.3942C>T (p.His1314=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1066783	NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn)	SOS1 (I430N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 1034196	NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile)	SOS1 (V1117I +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 1030000	NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys)	SOS1 (Y1031C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 1029999	NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe)	LOC129933535, SOS1 (Y8F)	Single nucleotide variant (missense variant +1 more)	Fibromatosis, gingival, 1 +2 more	GUncertain significance
Select item 1028924	NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys)	SOS1 (E561K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 1026516	NM_005633.4(SOS1):c.1672A>G (p.Met558Val)	SOS1 (M551V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1025961	NM_005633.4(SOS1):c.1670C>T (p.Thr557Ile)	SOS1 (T550I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +2 more	GUncertain significance
Select item 996090	NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala)	SOS1 (T713A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 992530	NM_005633.4(SOS1):c.3391+5G>C	SOS1	Single nucleotide variant (intron variant)	RASopathy +2 more	GUncertain significance
Select item 992452	NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser)	SOS1 (N529S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 987886	NM_005633.4(SOS1):c.3298G>T (p.Asp1100Tyr)	SOS1 (D1093Y +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 984469	NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr)	SOS1 (R1206T +2 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GUncertain significance
Select item 984446	NM_005633.4(SOS1):c.3114T>G (p.Pro1038=)	SOS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign

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