"PreventionGenetics, part of Exact Sciences"[submitter] AND "SHOC2"[ge - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3061176	NM_007373.4(SHOC2):c.16G>A (p.Gly6Arg)	SHOC2 (G6R)	Single nucleotide variant (missense variant)	SHOC2-related condition	GUncertain significance
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 2191116	NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)	SHOC2 (V18L)	Single nucleotide variant (missense variant)	SHOC2-related condition +3 more	GUncertain significance
Select item 260162	NM_007373.4(SHOC2):c.303T>C (p.Asn101=)	SHOC2	Single nucleotide variant (synonymous variant)	not specified +2 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 373090	NM_007373.4(SHOC2):c.517A>G (p.Met173Val)	SHOC2 (M173V)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair +4 more	GConflicting classifications of pathogenicity
Select item 139106	NM_007373.4(SHOC2):c.704-16G>T	SHOC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 218698	NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg)	SHOC2 (Q269R)	Single nucleotide variant (missense variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1 +3 more	GConflicting classifications of pathogenicity
Select item 139107	NM_007373.4(SHOC2):c.841+12G>A	SHOC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1308603	NM_007373.4(SHOC2):c.911C>T (p.Ala304Val)	SHOC2 (A258V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1457448	NM_007373.4(SHOC2):c.972+8G>C	SHOC2	Single nucleotide variant (intron variant)	SHOC2-related condition +1 more	GLikely benign
Select item 181524	NM_007373.4(SHOC2):c.973-5del	SHOC2	Deletion (intron variant)	RASopathy +4 more	GBenign/Likely benign
Select item 2027476	NM_007373.4(SHOC2):c.1161+4A>G	SHOC2	Single nucleotide variant (intron variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 40638	NM_007373.4(SHOC2):c.1161+9A>G	SHOC2	Single nucleotide variant (intron variant)	SHOC2-related condition +4 more	GBenign
Select item 41450	NM_007373.4(SHOC2):c.1161+42T>C	SHOC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260160	NM_007373.4(SHOC2):c.1162-16T>G	SHOC2	Single nucleotide variant (intron variant)	RASopathy +1 more	GBenign/Likely benign
Select item 220874	NM_007373.4(SHOC2):c.1239G>T (p.Gln413His)	SHOC2 (Q413H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
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 1557160	NM_007373.4(SHOC2):c.1404A>G (p.Ala468=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	SHOC2-related condition +1 more	GLikely benign
Select item 3049667	NM_007373.4(SHOC2):c.1422+5A>G	SHOC2	Single nucleotide variant (intron variant)	SHOC2-related condition	GLikely benign
Select item 139109	NM_007373.4(SHOC2):c.1423-7C>T	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 260161	NM_007373.4(SHOC2):c.1541-29A>T	SHOC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 928786	NM_007373.4(SHOC2):c.1541-7del	SHOC2	Deletion (intron variant)	Noonan syndrome and Noonan-related syndrome +5 more	GBenign/Likely benign
Select item 1809782	NM_007373.4(SHOC2):c.1544C>T (p.Thr515Ile)	SHOC2 (T469I +1 more)	Single nucleotide variant (missense variant +1 more)	SHOC2-related condition +1 more	GUncertain significance
Select item 1334284	NM_007373.4(SHOC2):c.1592A>G (p.His531Arg)	SHOC2 (H485R +1 more)	Single nucleotide variant (missense variant +1 more)	SHOC2-related condition +3 more	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 2636303	NM_007373.4(SHOC2):c.1650C>G (p.Asn550Lys)	SHOC2 (N504K +1 more)	Single nucleotide variant (missense variant +1 more)	SHOC2-related condition	GUncertain significance
Select item 620614	NM_007373.4(SHOC2):c.1741A>G (p.Met581Val)	SHOC2 (M581V +1 more)	Single nucleotide variant (missense variant +1 more)	SHOC2-related condition +2 more	GUncertain significance
Select item 181525	NM_007373.4(SHOC2):c.*3T>C	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome and Noonan-related syndrome +2 more	GBenign

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Items: 30