"Ambry Genetics"[submitter] AND "SHOC2"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40634	NM_007373.4(SHOC2):c.-1C>T	SHOC2	Single nucleotide variant (5 prime UTR variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 6821	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2 (S2G)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GPathogenic FDA Recognized database
Select item 2265459	NM_007373.4(SHOC2):c.5G>C (p.Ser2Thr)	SHOC2 (S2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1736848	NM_007373.4(SHOC2):c.39A>G (p.Glu13=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2191116	NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)	SHOC2 (V18L)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +3 more	GUncertain significance
Select item 1747307	NM_007373.4(SHOC2):c.53T>C (p.Val18Ala)	SHOC2 (V18A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 40637	NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)	SHOC2 (E25G)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1760674	NM_007373.4(SHOC2):c.77A>G (p.Lys26Arg)	SHOC2 (K26R)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1761127	NM_007373.4(SHOC2):c.78G>A (p.Lys26=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1766489	NM_007373.4(SHOC2):c.92C>T (p.Ser31Phe)	SHOC2 (S31F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1508675	NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro)	SHOC2 (S57P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 179760	NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)	SHOC2 (S57F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 505339	NM_007373.4(SHOC2):c.171C>T (p.Ser57=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2079868	NM_007373.4(SHOC2):c.173G>A (p.Ser58Asn)	SHOC2 (S58N)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 167686	NM_007373.4(SHOC2):c.183A>G (p.Gln61=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1781633	NM_007373.4(SHOC2):c.186A>C (p.Pro62=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1658428	NM_007373.4(SHOC2):c.192G>A (p.Val64=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1784741	NM_007373.4(SHOC2):c.202G>A (p.Val68Ile)	SHOC2 (V68I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1786556	NM_007373.4(SHOC2):c.213G>A (p.Thr71=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1786700	NM_007373.4(SHOC2):c.214A>G (p.Ile72Val)	SHOC2 (I72V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450870	NM_007373.4(SHOC2):c.256A>G (p.Ser86Gly)	SHOC2 (S86G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1794291	NM_007373.4(SHOC2):c.264A>G (p.Ala88=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2233637	NM_007373.4(SHOC2):c.267G>C (p.Glu89Asp)	SHOC2 (E89D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450868	NM_007373.4(SHOC2):c.290G>T (p.Cys97Phe)	SHOC2 (C97F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1729812	NM_007373.4(SHOC2):c.328A>C (p.Arg110=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 703416	NM_007373.4(SHOC2):c.354A>G (p.Ser118=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 181527	NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)	SHOC2 (I119V)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GConflicting classifications of pathogenicity
Select item 448931	NM_007373.4(SHOC2):c.363G>A (p.Glu121=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 1734179	NM_007373.4(SHOC2):c.370C>A (p.Gln124Lys)	SHOC2 (Q124K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 448932	NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile)	SHOC2 (T126I)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 509166	NM_007373.4(SHOC2):c.390A>G (p.Leu130=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1736330	NM_007373.4(SHOC2):c.393C>T (p.Tyr131=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1133452	NM_007373.4(SHOC2):c.441T>C (p.Asn147=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1741089	NM_007373.4(SHOC2):c.450A>G (p.Thr150=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 139104	NM_007373.4(SHOC2):c.457C>T (p.Leu153=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1743906	NM_007373.4(SHOC2):c.489C>T (p.Asp163=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1744813	NM_007373.4(SHOC2):c.501C>T (p.Asn167=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 181528	NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)	SHOC2 (M173I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 1746510	NM_007373.4(SHOC2):c.526T>A (p.Leu176Ile)	SHOC2 (L176I)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1748749	NM_007373.4(SHOC2):c.562G>C (p.Val188Leu)	SHOC2 (V188L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1749547	NM_007373.4(SHOC2):c.576T>G (p.Asp192Glu)	SHOC2 (D192E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1749638	NM_007373.4(SHOC2):c.578C>G (p.Ser193Cys)	SHOC2 (S193C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1403719	NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala)	SHOC2 (T206A)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 948626	NM_007373.4(SHOC2):c.619G>A (p.Val207Met)	SHOC2 (V207M)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +2 more	GUncertain significance
Select item 1752944	NM_007373.4(SHOC2):c.633C>T (p.Ile211=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1754004	NM_007373.4(SHOC2):c.651C>T (p.Leu217=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1352714	NM_007373.4(SHOC2):c.743A>G (p.Asn248Ser)	SHOC2 (N248S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1759504	NM_007373.4(SHOC2):c.755A>G (p.His252Arg)	SHOC2 (H252R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1306621	NM_007373.4(SHOC2):c.757C>T (p.Leu253Phe)	SHOC2 (L253F)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1759923	NM_007373.4(SHOC2):c.763A>G (p.Lys255Glu)	SHOC2 (K255E)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 561901	NM_007373.4(SHOC2):c.770T>C (p.Ile257Thr)	SHOC2 (I257T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2240686	NM_007373.4(SHOC2):c.799G>A (p.Asp267Asn)	SHOC2 (D267N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1761684	NM_007373.4(SHOC2):c.801C>T (p.Asp267=)	SHOC2	Single nucleotide variant (synonymous variant +2 more)	RASopathy +1 more	GLikely benign
Select item 1761798	NM_007373.4(SHOC2):c.804G>A (p.Leu268=)	SHOC2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1762653	NM_007373.4(SHOC2):c.825C>T (p.Asp275=)	SHOC2	Single nucleotide variant (synonymous variant +2 more)	RASopathy +1 more	GLikely benign
Select item 506462	NM_007373.4(SHOC2):c.849G>A (p.Leu283=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy +2 more	GLikely benign
Select item 1765151	NM_007373.4(SHOC2):c.892G>A (p.Ala298Thr)	SHOC2 (A252T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 448935	NM_007373.4(SHOC2):c.894A>C (p.Ala298=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1765713	NM_007373.4(SHOC2):c.907T>G (p.Leu303Val)	SHOC2 (L257V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1765838	NM_007373.4(SHOC2):c.910G>A (p.Ala304Thr)	SHOC2 (A304T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1308603	NM_007373.4(SHOC2):c.911C>T (p.Ala304Val)	SHOC2 (A258V +1 more)	Single nucleotide variant (missense variant +1 more)	SHOC2-related condition +3 more	GUncertain significance
Select item 2079012	NM_007373.4(SHOC2):c.923C>T (p.Ala308Val)	SHOC2 (A308V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1767336	NM_007373.4(SHOC2):c.954C>T (p.Asn318=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 928787	NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala)	SHOC2 (T275A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 181524	NM_007373.4(SHOC2):c.973-5del	SHOC2	Deletion (intron variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign/Likely benign
Select item 1768370	NM_007373.4(SHOC2):c.984A>C (p.Ser328=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1556386	NM_007373.4(SHOC2):c.1033T>C (p.Leu345=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 948934	NM_007373.4(SHOC2):c.1073A>G (p.Tyr358Cys)	SHOC2 (Y312C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1791122	NM_007373.4(SHOC2):c.1098A>C (p.Arg366=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 1648091	NM_007373.4(SHOC2):c.1185C>T (p.Pro395=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 878756	NM_007373.4(SHOC2):c.1215A>G (p.Val405=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy +3 more	GLikely benign
Select item 2450871	NM_007373.4(SHOC2):c.1257G>C (p.Glu419Asp)	SHOC2 (E373D +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 181531	NM_007373.4(SHOC2):c.1288C>T (p.Leu430Phe)	SHOC2 (L430F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2565490	NM_007373.4(SHOC2):c.1292T>A (p.Ile431Asn)	SHOC2 (I431N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 139108	NM_007373.4(SHOC2):c.1302C>T (p.Asn434=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1306308	NM_007373.4(SHOC2):c.1318C>A (p.Leu440Ile)	SHOC2 (L394I +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1770221	NM_007373.4(SHOC2):c.1335A>G (p.Gly445=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy +2 more	GLikely benign
Select item 976139	NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)	SHOC2 (N434T +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 1139916	NM_007373.4(SHOC2):c.1447T>C (p.Leu483=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1198714	NM_007373.4(SHOC2):c.1452C>G (p.Thr484=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1773359	NM_007373.4(SHOC2):c.1470T>C (p.Ile490=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
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 1196025	NM_007373.4(SHOC2):c.1545A>G (p.Thr515=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1775117	NM_007373.4(SHOC2):c.1554C>A (p.Asn518Lys)	SHOC2 (N518K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1775385	NM_007373.4(SHOC2):c.1566G>C (p.Leu522=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 1401446	NM_007373.4(SHOC2):c.1580A>G (p.Asn527Ser)	SHOC2 (N481S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1775821	NM_007373.4(SHOC2):c.1587C>A (p.Asn529Lys)	SHOC2 (N529K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 139110	NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly)	SHOC2 (S532G +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1776451	NM_007373.4(SHOC2):c.1614A>G (p.Ala538=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1497272	NM_007373.4(SHOC2):c.1633A>G (p.Ile545Val)	SHOC2 (I499V +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 1354851	NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly)	SHOC2 (S508G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 838172	NM_007373.4(SHOC2):c.1669C>T (p.Pro557Ser)	SHOC2 (P511S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1778224	NM_007373.4(SHOC2):c.1695T>A (p.Pro565=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign

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Items: 93