ClinVar for MedGen (Select 1646345) - ClinVar

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Items: 37

	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 850426	NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)	HRAS, LRRC56 (R164P +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +5 more	GUncertain significance
Select item 835903	NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)	HRAS, LRRC56 (T31P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 644041	NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)	HRAS, LRRC56 (R161C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	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 503537	NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)	HRAS, LRRC56 (Y4C)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +6 more	GUncertain significance
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 477662	NM_002524.5(NRAS):c.25G>A (p.Val9Ile)	NRAS (V9I)	Single nucleotide variant (missense variant)	Linear nevus sebaceous syndrome +8 more	GUncertain significance
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 409951	NM_005343.4(HRAS):c.398T>A (p.Leu133His)	HRAS, LRRC56 (L133H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 391700	NM_005343.4(HRAS):c.179G>T (p.Gly60Val)	HRAS, LRRC56 (G60V)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +6 more	GPathogenic
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 376325	NM_033360.4(KRAS):c.64C>A (p.Gln22Lys)	KRAS (Q22K)	Single nucleotide variant (missense variant)	Linear nevus sebaceous syndrome	GLikely pathogenic
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 180856	NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)	HRAS, LRRC56 (R169Q +1 more)	Single nucleotide variant (missense variant +1 more)	Large congenital melanocytic nevus +8 more	GUncertain significance
Select item 180848	NM_005343.4(HRAS):c.38G>T (p.Gly13Val)	HRAS, LRRC56 (G13V)	Single nucleotide variant (missense variant +1 more)	Large congenital melanocytic nevus +2 more	GPathogenic/Likely pathogenic
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 177918	NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)	HRAS, LRRC56 (R169W +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +7 more	GUncertain significance
Select item 177714	NM_004985.5(KRAS):c.112-9C>T	KRAS	Single nucleotide variant (intron variant)	RASopathy +12 more	GLikely benign
Select item 160364	NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	HRAS, LRRC56 (Q61R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 more	GLikely pathogenic
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 45300	NM_005343.4(HRAS):c.330C>T (p.Pro110=)	HRAS, LRRC56 (P4L)	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome and Noonan-related syndrome +8 more	GBenign/Likely benign
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
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 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 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 35554	NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	HRAS, LRRC56 (G13R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 13900	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS (Q61R)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +4 more	GPathogenic OOncogenic
Select item 12613	NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	HRAS, LRRC56 (G12C)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic
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 12604	NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)	HRAS, LRRC56 (G13D)	Single nucleotide variant (missense variant +1 more)	not provided +10 more	GPathogenic
Select item 12603	NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	HRAS, LRRC56 (G12A)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +8 more	GPathogenic
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 12583	NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	KRAS (G12V)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +5 more	GPathogenic OOncogenic
Select item 12582	NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	KRAS (G12D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic OOncogenic

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Items: 37