"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180167	NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn)	SOS1 (D1145N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 181544	NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)	SOS1 (I1138V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 2921239	NM_005633.4(SOS1):c.3392-14T>G	SOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 45362	NM_005633.4(SOS1):c.3391+7A>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 180166	NM_005633.4(SOS1):c.3347-20T>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 40723	NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr)	SOS1 (S1097T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 180164	NM_005633.4(SOS1):c.3081+32A>G	SOS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 180169	NM_005633.4(SOS1):c.3081+26G>A	SOS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 40713	NM_005633.4(SOS1):c.2988G>A (p.Pro996=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 180168	NM_005633.4(SOS1):c.2964+32T>G	SOS1	Single nucleotide variant (intron variant)	Noonan syndrome	GBenign
Select item 180170	NM_005633.4(SOS1):c.2791+53C>T	SOS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 45353	NM_005633.4(SOS1):c.2673+14T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
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 180174	NM_005633.4(SOS1):c.2511-13_2511-9del	SOS1	Deletion (intron variant)	RASopathy +1 more	GLikely benign
Select item 993880	NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr)	SOS1 (I735T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 811247	NM_005633.4(SOS1):c.2167+16dup	SOS1	Duplication (intron variant)	Fibromatosis, gingival, 1 +3 more	GBenign
Select item 632999	NM_005633.4(SOS1):c.2167+16del	SOS1	Deletion (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 45350	NM_005633.4(SOS1):c.2167+6T>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40698	NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala)	SOS1 (G719A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
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 40696	NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)	SOS1 (Y702H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 40692	NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)	SOS1 (P655L +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
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 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 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 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 40673	NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr)	SOS1 (C441Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 45345	NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	SOS1 (I437T +1 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic/Likely pathogenic
Select item 40670	NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg)	SOS1 (G434R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +4 more	GPathogenic
Select item 40665	NM_005633.4(SOS1):c.1230G>A (p.Gln410=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 2921124	NM_005633.4(SOS1):c.1203-18T>A	SOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 139235	NM_005633.4(SOS1):c.1203-20T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy +5 more	GBenign
Select item 45343	NM_005633.4(SOS1):c.1074+5G>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 12869	NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)	SOS1 (T266K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +4 more	GPathogenic
Select item 40660	NM_005633.4(SOS1):c.749T>C (p.Val250Ala)	SOS1 (V250A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 180179	NM_005633.4(SOS1):c.720+25C>G	SOS1	Single nucleotide variant (intron variant)	Noonan syndrome 4 +3 more	GBenign
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 45374	NM_005633.4(SOS1):c.553A>G (p.Ile185Val)	SOS1 (I185V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40651	NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	SOS1 (K170E +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 180171	NM_005633.4(SOS1):c.396A>T (p.Ala132=)	SOS1	Single nucleotide variant (synonymous variant)	Fibromatosis, gingival, 1 +4 more	GLikely benign
Select item 448946	NM_005633.4(SOS1):c.225A>G (p.Gln75=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40643	NM_005633.4(SOS1):c.195A>C (p.Arg65=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40641	NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)	SOS1 (T37A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 180178	NM_005633.3:c.213+15C>G	SOS1	Single nucleotide variant	Noonan syndrome	GBenign

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Items: 46