ClinVar for MedGen (Select 815335) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431456	NM_004985.5(KRAS):c.175_176delinsTT (p.Ala59Leu)	KRAS (A59L)	Indel (missense variant)	Cardiofaciocutaneous syndrome 2	GLikely pathogenic
Select item 1098601	NM_004985.5(KRAS):c.58A>G (p.Thr20Ala)	KRAS (T20A)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 2	GUncertain significance
Select item 1046139	NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)	KRAS (A130I)	Indel (missense variant)	Autoimmune lymphoproliferative syndrome type 4 +12 more	GUncertain significance
Select item 626130	NM_033360.4(KRAS):c.112-5C>T	KRAS	Single nucleotide variant (intron variant)	Noonan syndrome 3 +12 more	GConflicting classifications of pathogenicity
Select item 620625	NM_033360.4(KRAS):c.101_106del	KRAS	Deletion (3 prime UTR variant +1 more)	Acute myeloid leukemia +14 more	GConflicting classifications of pathogenicity
Select item 496491	NM_033360.4(KRAS):c.4+5G>A	KRAS	Single nucleotide variant (intron variant)	Lung cancer +12 more	GBenign/Likely benign
Select item 379556	NM_033360.4(KRAS):c.5-18A>G	KRAS	Single nucleotide variant (intron variant)	not provided +13 more	GBenign/Likely benign
Select item 197243	NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)	KRAS (A146T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180861	NM_033360.4(KRAS):c.389C>T (p.Ala130Val)	KRAS (A130V)	Single nucleotide variant (missense variant)	Noonan syndrome 3 +15 more	GUncertain significance
Select item 180052	NM_004985.5(KRAS):c.451-5652C>T	KRAS	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 2 +12 more	GLikely benign
Select item 177714	NM_004985.5(KRAS):c.112-9C>T	KRAS	Single nucleotide variant (intron variant)	RASopathy +12 more	GLikely benign
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 45119	NM_004985.5(KRAS):c.24A>G (p.Val8=)	KRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40460	NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	KRAS (D119N)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 4 +5 more	GLikely pathogenic
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 31941	NM_033360.4(KRAS):c.439A>G (p.Lys147Glu)	KRAS (K147E)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 31940	NM_033360.4(KRAS):c.211T>C (p.Tyr71His)	KRAS (Y71H)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 2	GPathogenic
Select item 12597	NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)	KRAS (G60S)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 2 +3 more	GPathogenic
Select item 12595	NM_033360.4(KRAS):c.*22C>G	KRAS (F156L)	Single nucleotide variant (3 prime UTR variant +1 more)	KRAS-related disorder +2 more	GPathogenic
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 12590	NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)	KRAS (P34R)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic/Likely pathogenic
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 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

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Items: 23