SHOC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	ACSL5, ADD3 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	LOC130004776, LOC130004777 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 1302751	NM_001324336.2(SHOC2):c.-243C>T	SHOC2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 880483	NM_007373.3(SHOC2):c.-346T>G	LOC130004755, SHOC2	Single nucleotide variant (intron variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 880484	NM_007373.4(SHOC2):c.-264A>T	LOC130004755, SHOC2	Single nucleotide variant (non-coding transcript variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 880485	NM_007373.4(SHOC2):c.-259G>A	LOC130004755, SHOC2	Single nucleotide variant (intron variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298859	NM_007373.4(SHOC2):c.-254C>T	LOC130004755, SHOC2	Single nucleotide variant (5 prime UTR variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 139105	NM_007373.4(SHOC2):c.-244G>T	LOC130004755, SHOC2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 877713	NM_007373.4(SHOC2):c.-235+15A>G	LOC130004755, SHOC2	Single nucleotide variant (intron variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 1291539	NM_007373.4(SHOC2):c.-235+215G>C	LOC130004755, SHOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512374	NM_007373.4(SHOC2):c.-234-14A>G	SHOC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 139103	NM_007373.4(SHOC2):c.-228T>G	SHOC2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 165236	NM_007373.4(SHOC2):c.-179T>A	SHOC2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 40632	NM_007373.4(SHOC2):c.-159T>C	SHOC2	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +3 more	GConflicting classifications of pathogenicity
Select item 165237	NM_007373.4(SHOC2):c.-125C>T	SHOC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 40633	NM_007373.4(SHOC2):c.-114C>G	SHOC2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 45562	NM_007373.4(SHOC2):c.-66A>G	SHOC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1329574	NM_007373.4(SHOC2):c.-42A>G	SHOC2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 280656	NM_007373.4(SHOC2):c.7A>G (p.Ser3Gly)	SHOC2 (S3G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 40635	NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)	SHOC2 (S4R)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 2640834	NM_007373.4(SHOC2):c.11G>A (p.Ser4Asn)	SHOC2 (S4N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061176	NM_007373.4(SHOC2):c.16G>A (p.Gly6Arg)	SHOC2 (G6R)	Single nucleotide variant (missense variant)	SHOC2-related condition	GUncertain significance
Select item 1717401	NM_007373.4(SHOC2):c.16G>C (p.Gly6Arg)	SHOC2 (G6R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2795797	NM_007373.4(SHOC2):c.22G>C (p.Glu8Gln)	SHOC2 (E8Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1963211	NM_007373.4(SHOC2):c.27A>G (p.Lys9=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1914478	NM_007373.4(SHOC2):c.28G>T (p.Asp10Tyr)	SHOC2 (D10Y)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2077589	NM_007373.4(SHOC2):c.31T>C (p.Ser11Pro)	SHOC2 (S11P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 496406	NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr)	SHOC2 (S11Y)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +1 more	GUncertain significance
Select item 1294209	NM_007373.4(SHOC2):c.33T>C (p.Ser11=)	SHOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 181526	NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)	SHOC2 (E13A)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 1736848	NM_007373.4(SHOC2):c.39A>G (p.Glu13=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1207211	NM_007373.4(SHOC2):c.46C>T (p.Pro16Ser)	SHOC2 (P16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749309	NM_007373.4(SHOC2):c.47C>G (p.Pro16Arg)	SHOC2 (P16R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
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 652343	NM_007373.4(SHOC2):c.52G>A (p.Val18Ile)	SHOC2 (V18I)	Single nucleotide variant (missense variant)	not provided +1 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 877714	NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg)	SHOC2 (P19R)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 573791	NM_007373.4(SHOC2):c.71G>A (p.Arg24Lys)	SHOC2 (R24K)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2446233	NM_007373.4(SHOC2):c.73G>C (p.Glu25Gln)	SHOC2 (E25Q)	Single nucleotide variant (missense variant)	not provided	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 935079	NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)	SHOC2 (E27Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1559459	NM_007373.4(SHOC2):c.84A>C (p.Ala28=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1321351	NM_007373.4(SHOC2):c.85A>G (p.Lys29Glu)	SHOC2 (K29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2804581	NM_007373.4(SHOC2):c.88G>A (p.Ala30Thr)	SHOC2 (A30T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2880831	NM_007373.4(SHOC2):c.90C>T (p.Ala30=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2811678	NM_007373.4(SHOC2):c.91T>C (p.Ser31Pro)	SHOC2 (S31P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
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 1065148	NM_007373.4(SHOC2):c.96A>T (p.Gly32=)	SHOC2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3011897	NM_007373.4(SHOC2):c.102T>G (p.Phe34Leu)	SHOC2 (F34L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2770738	NM_007373.4(SHOC2):c.103G>A (p.Gly35Arg)	SHOC2 (G35R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1514651	NM_007373.4(SHOC2):c.103G>T (p.Gly35Trp)	SHOC2 (G35W)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2141254	NM_007373.4(SHOC2):c.107A>G (p.Lys36Arg)	SHOC2 (K36R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 496405	NM_007373.4(SHOC2):c.109G>C (p.Glu37Gln)	SHOC2 (E37Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076274	NM_007373.4(SHOC2):c.110A>G (p.Glu37Gly)	SHOC2 (E37G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2188141	NM_007373.4(SHOC2):c.113G>A (p.Ser38Asn)	SHOC2 (S38N)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2200060	NM_007373.4(SHOC2):c.126A>T (p.Glu42Asp)	SHOC2 (E42D)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2200061	NM_007373.4(SHOC2):c.129T>C (p.Pro43=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1947650	NM_007373.4(SHOC2):c.130A>G (p.Lys44Glu)	SHOC2 (K44E)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2014740	NM_007373.4(SHOC2):c.134C>G (p.Thr45Ser)	SHOC2 (T45S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2503516	NM_007373.4(SHOC2):c.145G>A (p.Asp49Asn)	SHOC2 (D49N)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +1 more	GUncertain significance
Select item 2715205	NM_007373.4(SHOC2):c.154G>T (p.Asp52Tyr)	SHOC2 (D52Y)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1339314	NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg)	SHOC2 (G53R)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GLikely pathogenic
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 579289	NM_007373.4(SHOC2):c.181C>A (p.Gln61Lys)	SHOC2 (Q61K)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2696509	NM_007373.4(SHOC2):c.183A>T (p.Gln61His)	SHOC2 (Q61H)	Single nucleotide variant (missense variant)	RASopathy	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 981608	NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)	SHOC2 (G63R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 561714	NM_007373.4(SHOC2):c.187G>C (p.Gly63Arg)	SHOC2 (G63R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2028612	NM_007373.4(SHOC2):c.210T>C (p.Asn70=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2912183	NM_007373.4(SHOC2):c.212C>T (p.Thr71Met)	SHOC2 (T71M)	Single nucleotide variant (missense variant)	RASopathy	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 1014118	NM_007373.4(SHOC2):c.233C>T (p.Ala78Val)	SHOC2 (A78V)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2725429	NM_007373.4(SHOC2):c.236C>G (p.Pro79Arg)	SHOC2 (P79R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1003171	NM_007373.4(SHOC2):c.238G>A (p.Gly80Arg)	SHOC2 (G80R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1359628	NM_007373.4(SHOC2):c.240G>T (p.Gly80=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1011324	NM_007373.4(SHOC2):c.242C>T (p.Thr81Ile)	SHOC2 (T81I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1025311	NM_007373.4(SHOC2):c.254C>T (p.Ser85Phe)	SHOC2 (S85F)	Single nucleotide variant (missense variant)	RASopathy	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 2186845	NM_007373.4(SHOC2):c.258C>A (p.Ser86Arg)	SHOC2 (S86R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3016703	NM_007373.4(SHOC2):c.261T>C (p.Asn87=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1719439	NM_007373.4(SHOC2):c.263C>G (p.Ala88Gly)	SHOC2 (A88G)	Single nucleotide variant (missense variant)	RASopathy	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

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