C0587248[trait identifier] AND "ClinGen RASopathy Variant Curation Exp - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40448	NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)	HRAS, LRRC56 (P174S +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 45305	NM_005343.4(HRAS):c.510G>A (p.Lys170=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 40447	NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)	HRAS, LRRC56 (K170* +1 more)	Single nucleotide variant (nonsense +1 more)	Costello syndrome	GUncertain significance FDA Recognized database
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 830080	NM_176795.5(HRAS):c.488_507del (p.Leu163fs)	HRAS, LRRC56 (L163fs +1 more)	Deletion (frameshift variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 45304	NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)	HRAS, LRRC56 (G138S)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance 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 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 12605	NM_005343.4(HRAS):c.350A>G (p.Lys117Arg)	HRAS, LRRC56 (K117R +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GPathogenic FDA Recognized database
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 448926	NM_005343.4(HRAS):c.291-6T>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40439	NM_005343.4(HRAS):c.277A>G (p.Ile93Val)	HRAS, LRRC56 (I93V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance 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 40435	NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)	HRAS, LRRC56 (A59T)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 12610	NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)	HRAS, LRRC56 (T58I)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database
Select item 40431	NM_005343.4(HRAS):c.81T>C (p.His27=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
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 12602	NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	HRAS, LRRC56 (G12S)	Single nucleotide variant (5 prime UTR variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database

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Items: 20