ClinVar for MedGen (Select 1647111) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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)	RASopathy +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)	RASopathy +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)	Fibromatosis, gingival, 1 +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)	Cardiovascular phenotype +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)	Noonan syndrome 4 +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)	RASopathy +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1415741	NM_005633.4(SOS1):c.1859-3T>C	SOS1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +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)	Noonan syndrome 4 +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)	Noonan syndrome 4 +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 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 1335388	NM_005633.4(SOS1):c.3709C>T (p.Pro1237Ser)	SOS1 (P1222S +2 more)	Single nucleotide variant (missense variant)	SOS1-related disorder +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)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 1321399	NM_005633.4(SOS1):c.3438A>G (p.Glu1146=)	SOS1	Single nucleotide variant (synonymous variant)	Fibromatosis, gingival, 1 +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)	RASopathy +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)	RASopathy +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)	SOS1-related disorder +5 more	GBenign/Likely benign
Select item 1294221	NM_005633.4(SOS1):c.984C>T (p.Gly328=)	SOS1	Single nucleotide variant (synonymous variant)	Noonan syndrome 4 +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)	Cardiovascular phenotype +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)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1194222	NM_005633.4(SOS1):c.1995T>C (p.Asn665=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +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)	Noonan syndrome 4 +3 more	GLikely benign
Select item 1143950	NM_005633.4(SOS1):c.429G>A (p.Lys143=)	SOS1	Single nucleotide variant (synonymous variant)	Noonan syndrome 4 +5 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)	Noonan syndrome 4 +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 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 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 1026516	NM_005633.4(SOS1):c.1672A>G (p.Met558Val)	SOS1 (M551V +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +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 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)	Fibromatosis, gingival, 1 +4 more	GLikely benign
Select item 971571	NM_005633.4(SOS1):c.1357G>A (p.Val453Ile)	SOS1 (V453I +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GUncertain significance
Select item 966472	NM_005633.4(SOS1):c.382G>A (p.Val128Ile)	SOS1 (V121I +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GConflicting classifications of pathogenicity
Select item 952557	NM_005633.4(SOS1):c.742C>T (p.Arg248Cys)	SOS1 (R241C +1 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 939103	NM_005633.4(SOS1):c.3902A>G (p.His1301Arg)	SOS1 (H1286R +2 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 932037	NM_005633.4(SOS1):c.1075-16C>T	SOS1	Single nucleotide variant (intron variant)	Fibromatosis, gingival, 1 +2 more	GConflicting classifications of pathogenicity
Select item 931188	NM_005633.4(SOS1):c.511-6_511-5del	SOS1	Deletion (intron variant)	Fibromatosis, gingival, 1	GUncertain significance
Select item 931054	NM_005633.4(SOS1):c.2344A>G (p.Ile782Val)	SOS1 (I782V +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +2 more	GUncertain significance
Select item 928619	NM_005633.4(SOS1):c.1202+3G>A	SOS1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 918159	NM_005633.4(SOS1):c.2990T>C (p.Met997Thr)	SOS1 (M990T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 898963	NM_005633.4(SOS1):c.1635G>A (p.Gln545=)	SOS1	Single nucleotide variant (synonymous variant)	Fibromatosis, gingival, 1 +2 more	GConflicting classifications of pathogenicity
Select item 898827	NM_005633.4(SOS1):c.*218T>G	SOS1	Single nucleotide variant (3 prime UTR variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 898826	NM_005633.4(SOS1):c.*230T>C	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 898760	NM_005633.4(SOS1):c.*873C>T	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 898759	NM_005633.4(SOS1):c.*1049G>T	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 898697	NM_005633.4(SOS1):c.*1641A>G	SOS1	Single nucleotide variant (3 prime UTR variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 898637	NM_005633.4(SOS1):c.*2512C>A	SOS1	Single nucleotide variant (3 prime UTR variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 898636	NM_005633.4(SOS1):c.*2517C>T	SOS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 898584	NM_005633.4(SOS1):c.*3458A>C	SOS1	Single nucleotide variant (3 prime UTR variant)	Fibromatosis, gingival, 1 +2 more	GBenign/Likely benign
Select item 898506	NM_005633.4(SOS1):c.*4076C>T	SOS1	Single nucleotide variant (3 prime UTR variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 898505	NM_005633.4(SOS1):c.*4077G>T	SOS1	Single nucleotide variant (3 prime UTR variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 897891	NM_005633.4(SOS1):c.670A>G (p.Lys224Glu)	SOS1 (K224E +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 897812	NM_005633.4(SOS1):c.1660C>A (p.Leu554Ile)	SOS1 (L554I +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 897740	NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)	SOS1 (I1198V +2 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +4 more	GConflicting classifications of pathogenicity
Select item 897663	NM_005633.4(SOS1):c.*408C>T	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 897662	NM_005633.4(SOS1):c.*421A>G	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 897601	NM_005633.4(SOS1):c.*1085A>G	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GBenign/Likely benign
Select item 897600	NM_005633.4(SOS1):c.*1270T>C	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance

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