ClinVar for MedGen (Select 333068) - ClinVar - NCBI

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Items: 15

	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)	Autoimmune lymphoproliferative syndrome type 4 +12 more	GUncertain significance
Select item 931154	NM_004985.5(KRAS):c.534_536del (p.Lys180del)	KRAS (K180del)	Deletion (3 prime UTR variant +1 more)	Toriello-Lacassie-Droste syndrome	GUncertain significance
Select item 626130	NM_033360.4(KRAS):c.112-5C>T	KRAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 4 +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 +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 224333	NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)	CLUAP1 (L273F +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 222986	NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro)	NLRP5 (L947P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222985	NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter)	NLRP5 (Q785*)	Single nucleotide variant (nonsense)	Toriello-Lacassie-Droste syndrome	GUncertain significance
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 40452	NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	KRAS (Q22R)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database