"ClinGen RASopathy Variant Curation Expert Panel"[submitter] AND "KRAS - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45129	NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del)	KRAS (K180del)	Microsatellite (3 prime UTR variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 41449	NM_004985.5(KRAS):c.519T>C (p.Asp173=)	KRAS	Single nucleotide variant (3 prime UTR variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 180859	NM_004985.5(KRAS):c.508A>T (p.Met170Leu)	KRAS (M170L)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 12587	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS (D153V)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 138060	NM_004985.5(KRAS):c.451-14T>C	KRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 438796	NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)	KRAS (S65I)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 12586	NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)	KRAS (G60R)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 12588	NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)	KRAS (T58I)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40454	NM_004985.5(KRAS):c.101C>T (p.Pro34Leu)	KRAS (P34L)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 138061	NM_033360.4(KRAS):c.90C>T (p.Asp30=)	KRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40452	NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	KRAS (Q22R)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12589	NM_004985.5(KRAS):c.40G>A (p.Val14Ile)	KRAS (V14I)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 45119	NM_004985.5(KRAS):c.24A>G (p.Val8=)	KRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 12594	NM_033360.4(KRAS):c.15A>T (p.Lys5Asn)	KRAS (K5N)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 163771	NM_004985.5(KRAS):c.-160A>G	KRAS, LOC130007561	Single nucleotide variant (5 prime UTR variant)	RASopathy	GBenign FDA Recognized database