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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334241	NM_005343.4(HRAS):c.521C>A (p.Pro174His)	HRAS, LRRC56 (P174H +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 935131	NM_005343.4(HRAS):c.503T>C (p.Leu168Pro)	HRAS, LRRC56 (L168P +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance
Select item 40446	NM_005343.4(HRAS):c.477G>A (p.Leu159=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40442	NM_005343.4(HRAS):c.378A>G (p.Glu126=)	HRAS, LRRC56 (N20S)	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 259747	NM_005343.4(HRAS):c.369C>T (p.Arg123=)	HRAS, LRRC56 (A17V)	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 45302	NM_005343.4(HRAS):c.363T>C (p.Ala121=)	HRAS, LRRC56 (L15P)	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 40441	NM_005343.4(HRAS):c.357C>T (p.Asp119=)	HRAS, LRRC56 (T13I)	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 45300	NM_005343.4(HRAS):c.330C>T (p.Pro110=)	HRAS, LRRC56 (P4L)	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GBenign/Likely benign
Select item 40440	NM_005343.4(HRAS):c.309G>A (p.Val103=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40437	NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)	HRAS, LRRC56 (N86T)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 160364	NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	LRRC56, HRAS (Q61R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 more	GLikely pathogenic
Select item 180847	NM_005343.4(HRAS):c.177C>T (p.Ala59=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 1334242	NM_005343.4(HRAS):c.175G>T (p.Ala59Ser)	HRAS, LRRC56 (A59S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance
Select item 531197	NM_005343.4(HRAS):c.102C>T (p.Pro34=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome and Noonan-related syndrome +2 more	GLikely benign
Select item 40431	NM_005343.4(HRAS):c.81T>C (p.His27=)	LRRC56, HRAS	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 12604	NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)	HRAS, LRRC56 (G13D)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +10 more	GPathogenic
Select item 35554	NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	HRAS, LRRC56 (G13R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 12606	NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	HRAS, LRRC56 (G13C)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 222076	NM_005343.4(HRAS):c.36C>T (p.Gly12=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 12612	NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)	HRAS, LRRC56 (G12D)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 12603	NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	LRRC56, HRAS (G12A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GPathogenic
Select item 12602	NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	HRAS, LRRC56 (G12S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database
Select item 137556	NM_005343.4(HRAS):c.-10C>T	HRAS, LRRC56	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 1226590	NM_005343.4(HRAS):c.-101C>T	HRAS, LRRC56	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 24