C1853120[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 335966	NM_005633.4(SOS1):c.*4023T>C	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 895514	NM_005633.4(SOS1):c.*4014T>C	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 895515	NM_005633.4(SOS1):c.*3989G>C	SOS1	Single nucleotide variant (3 prime UTR variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 895592	NM_005633.4(SOS1):c.*3252A>C	SOS1	Single nucleotide variant (3 prime UTR variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 896998	NM_005633.4(SOS1):c.*3149C>T	SOS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335989	NM_005633.4(SOS1):c.*1694del	SOS1	Deletion (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 895719	NM_005633.4(SOS1):c.*1535G>A	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 895720	NM_005633.4(SOS1):c.*1477G>A	SOS1	Single nucleotide variant (3 prime UTR variant)	Fibromatosis, gingival, 1 +1 more	GUncertain significance
Select item 335998	NM_005633.4(SOS1):c.*1303C>A	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 896074	NM_005633.4(SOS1):c.*559C>T	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 336009	NM_005633.4(SOS1):c.*534C>T	SOS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 895862	NM_005633.4(SOS1):c.*185A>G	SOS1	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 4 +1 more	GUncertain significance
Select item 181545	NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg)	SOS1 (M1319R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 372513	NM_005633.4(SOS1):c.3905T>C (p.Ile1302Thr)	SOS1 (I1302T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +4 more	GConflicting classifications of pathogenicity
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 181534	NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe)	SOS1 (S1286F +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 195761	NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)	SOS1 (T1257A +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GConflicting classifications of pathogenicity
Select item 411867	NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr)	SOS1 (P1255T +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 45368	NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu)	SOS1 (K1241E +2 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +6 more	GUncertain significance
Select item 336015	NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)	SOS1 (P1237A +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
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 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 643891	NM_005633.4(SOS1):c.3598_3599delinsAC (p.Asp1200Thr)	SOS1 (D1200T +2 more)	Indel (missense variant)	Fibromatosis, gingival, 1 +3 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 40732	NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)	SOS1 (H1175P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 40728	NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys)	SOS1 (R1131K +2 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GUncertain significance
Select item 45360	NM_005633.4(SOS1):c.3357C>T (p.Thr1119=)	SOS1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 40726	NM_005633.4(SOS1):c.3347-1G>A	SOS1	Single nucleotide variant (splice acceptor variant +1 more)	Noonan syndrome and Noonan-related syndrome +7 more	GUncertain significance
Select item 477722	NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)	SOS1 (S1096T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 12868	NM_005633.4(SOS1):c.3248dup (p.Arg1084fs)	SOS1 (R1084fs +1 more)	Duplication (frameshift variant)	Fibromatosis, gingival, 1 +1 more	GLikely pathogenic
Select item 561701	NM_005633.4(SOS1):c.3242A>G (p.Asn1081Ser)	SOS1 (N1081S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 561724	NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr)	SOS1 (S1066T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 280646	NM_005633.4(SOS1):c.3148A>G (p.Met1050Val)	SOS1 (M1050V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 40717	NM_005633.4(SOS1):c.3081+13A>G	SOS1	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign/Likely benign
Select item 40716	NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)	SOS1 (N1011S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40714	NM_005633.4(SOS1):c.2997T>C (p.Asn999=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 510934	NM_005633.4(SOS1):c.2674-9dup	SOS1	Duplication (intron variant)	Fibromatosis, gingival, 1 +4 more	GBenign/Likely benign
Select item 45353	NM_005633.4(SOS1):c.2673+14T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
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 40706	NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)	SOS1 (E846K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
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 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 139228	NM_005633.4(SOS1):c.2238T>C (p.Asn746=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
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 40697	NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)	SOS1 (A708T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 191107	NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)	SOS1 (Y702C +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GConflicting classifications of pathogenicity
Select item 40696	NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)	SOS1 (Y702H +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +3 more	GPathogenic
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 697561	NM_005633.4(SOS1):c.1905C>T (p.Cys635=)	SOS1	Single nucleotide variant (synonymous variant)	Fibromatosis, gingival, 1 +3 more	GLikely benign
Select item 513172	NM_005633.4(SOS1):c.1848T>C (p.His616=)	SOS1	Single nucleotide variant (synonymous variant)	Fibromatosis, gingival, 1 +4 more	GLikely benign
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 179117	NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)	SOS1 (V574I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
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 40684	NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)	SOS1 (R552S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 12872	NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)	SOS1 (R552S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 12871	NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	SOS1 (R552G +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40678	NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	SOS1 (S548R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
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 372578	NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro)	SOS1 (S543P +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 229262	NM_005633.4(SOS1):c.1564A>C (p.Asn522His)	SOS1 (N522H +1 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GUncertain significance
Select item 45348	NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)	SOS1 (R497Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
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 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 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 181548	NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu)	SOS1 (D366E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 45343	NM_005633.4(SOS1):c.1074+5G>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 162463	NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys)	SOS1 (Y337C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 1450606	NM_005633.4(SOS1):c.976-3dup	SOS1	Duplication (intron variant)	RASopathy +2 more	GUncertain significance
Select item 12869	NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)	SOS1 (T266K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
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 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 181547	NM_005633.4(SOS1):c.643T>C (p.Tyr215His)	SOS1 (Y215H +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 496310	NM_005633.4(SOS1):c.638G>A (p.Arg213Gln)	SOS1 (R213Q +1 more)	Single nucleotide variant (missense variant)	SOS1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 40655	NM_005633.4(SOS1):c.570C>T (p.Asp190=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 281652	NM_005633.4(SOS1):c.487A>G (p.Lys163Glu)	SOS1 (K163E +1 more)	Single nucleotide variant (missense variant)	not provided +2 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 139234	NM_005633.4(SOS1):c.345+15C>T	SOS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 496300	NM_005633.4(SOS1):c.213+9A>G	SOS1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 847050	NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr)	SOS1 (N57Y +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 861904	NM_005633.4(SOS1):c.87+6G>T	LOC129933535, SOS1	Single nucleotide variant (intron variant)	Fibromatosis, gingival, 1 +3 more	GUncertain significance
Select item 40640	NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)	LOC129933535, SOS1 (P25S)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 561447	NM_005633.4(SOS1):c.25G>A (p.Glu9Lys)	LOC129933535, SOS1 (E9K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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 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

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Items: 90