"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 40637	NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)	SHOC2 (E25G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1334278	NM_007373.4(SHOC2):c.332C>T (p.Ser111Phe)	SHOC2 (S111F)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GUncertain significance
Select item 181527	NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)	SHOC2 (I119V)	Single nucleotide variant (missense variant)	not provided +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 1053860	NM_007373.4(SHOC2):c.428G>A (p.Gly143Glu)	SHOC2 (G143E)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GUncertain significance
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 1334279	NM_007373.4(SHOC2):c.756C>A (p.His252Gln)	SHOC2 (H252Q)	Single nucleotide variant (missense variant +2 more)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 506891	NM_007373.4(SHOC2):c.842-3C>T	SHOC2	Single nucleotide variant (intron variant)	Noonan syndrome and Noonan-related syndrome +2 more	GConflicting classifications of pathogenicity
Select item 181524	NM_007373.4(SHOC2):c.973-5del	SHOC2	Deletion (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1334281	NM_007373.4(SHOC2):c.1047T>C (p.Gly349=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1206922	NM_007373.4(SHOC2):c.1161+5G>T	SHOC2	Single nucleotide variant (intron variant)	Noonan syndrome and Noonan-related syndrome +2 more	GUncertain significance
Select item 40638	NM_007373.4(SHOC2):c.1161+9A>G	SHOC2	Single nucleotide variant (intron variant)	Noonan syndrome-like disorder with loose anagen hair 1 +3 more	GBenign
Select item 1334282	NM_007373.4(SHOC2):c.1273G>A (p.Val425Ile)	SHOC2 (V379I +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 more	GUncertain significance
Select item 139109	NM_007373.4(SHOC2):c.1423-7C>T	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 1334283	NM_007373.4(SHOC2):c.1445A>T (p.Gln482Leu)	SHOC2 (Q436L +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 1139916	NM_007373.4(SHOC2):c.1447T>C (p.Leu483=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 445472	NM_007373.4(SHOC2):c.1541-7dup	SHOC2	Duplication (intron variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign/Likely benign
Select item 928786	NM_007373.4(SHOC2):c.1541-7del	SHOC2	Deletion (intron variant)	RASopathy +4 more	GBenign/Likely benign
Select item 1334284	NM_007373.4(SHOC2):c.1592A>G (p.His531Arg)	SHOC2 (H485R +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +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 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: 23