ClinVar for MedGen (Select 382434) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1046139	NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)	KRAS (A130I)	Indel (missense variant)	Familial cancer of breast +12 more	GUncertain significance
Select item 1028518	NM_033360.4(KRAS):c.559A>G (p.Ile187Val)	KRAS (I187V)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 4	GUncertain significance
Select item 626130	NM_033360.4(KRAS):c.112-5C>T	KRAS	Single nucleotide variant (intron variant)	RASopathy +12 more	GConflicting classifications of pathogenicity
Select item 620625	NM_033360.4(KRAS):c.101_106del	KRAS	Deletion (3 prime UTR variant +1 more)	RASopathy +13 more	GUncertain significance
Select item 496491	NM_033360.4(KRAS):c.4+5G>A	KRAS	Single nucleotide variant (intron variant)	Toriello-Lacassie-Droste syndrome +12 more	GBenign/Likely benign
Select item 477662	NM_002524.5(NRAS):c.25G>A (p.Val9Ile)	NRAS (V9I)	Single nucleotide variant (missense variant)	RASopathy +8 more	GUncertain significance
Select item 379556	NM_033360.4(KRAS):c.5-18A>G	KRAS	Single nucleotide variant (intron variant)	Linear nevus sebaceous syndrome +13 more	GBenign/Likely benign
Select item 375963	NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)	KRAS (A146P)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic/Likely pathogenic
Select item 180861	NM_033360.4(KRAS):c.389C>T (p.Ala130Val)	KRAS (A130V)	Single nucleotide variant (missense variant)	not specified +15 more	GUncertain significance
Select item 180052	NM_004985.5(KRAS):c.451-5652C>T	KRAS	Single nucleotide variant (intron variant)	Gastric cancer +12 more	GLikely benign
Select item 177714	NM_004985.5(KRAS):c.112-9C>T	KRAS	Single nucleotide variant (intron variant)	Gastric cancer +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 45123	NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	KRAS (G13C)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 4 +3 more	GPathogenic/Likely pathogenic
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 39648	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS (G12D)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 4 +6 more	GPathogenic/Likely pathogenic
Select item 13901	NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	NRAS (G13D)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia in down syndrome +2 more	GPathogenic/Likely pathogenic
Select item 12590	NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)	KRAS (P34R)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +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 12582	NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	KRAS (G12D)	Single nucleotide variant (missense variant)	Linear nevus sebaceous syndrome +5 more	GPathogenic/Likely pathogenic
Select item 12580	NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	KRAS (G13D)	Single nucleotide variant (missense variant)	Nevus sebaceous +6 more	GConflicting classifications of pathogenicity

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Items: 22