ClinVar for MedGen (Select 104494) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666414	NM_004333.6(BRAF):c.89G>A (p.Gly30Asp)	BRAF (G30D)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 505022	NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn)	MAP2K2 (K61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 359047	NM_004333.6(BRAF):c.2128-28dup	BRAF	Duplication (intron variant)	Cardio-facio-cutaneous syndrome +3 more	GConflicting classifications of pathogenicity
Select item 359046	NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT	BRAF	Indel (intron variant)	Cardio-facio-cutaneous syndrome +2 more	GUncertain significance
Select item 359045	NM_004333.6(BRAF):c.2128-16_2128-15del	BRAF	Deletion (intron variant)	Cardio-facio-cutaneous syndrome +2 more	GUncertain significance
Select item 359044	NM_004333.6(BRAF):c.2128-4del	BRAF	Deletion (intron variant)	Cardio-facio-cutaneous syndrome +2 more	GUncertain significance
Select item 343092	NM_002880.4(RAF1):c.*729AACA[4]	RAF1	Microsatellite (3 prime UTR variant +1 more)	Noonan syndrome +1 more	GUncertain significance
Select item 343091	NM_002880.4(RAF1):c.*729AACA[6]	RAF1	Microsatellite (3 prime UTR variant +1 more)	Noonan syndrome +1 more	GUncertain significance
Select item 307254	NM_002834.5(PTPN11):c.*2731G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome +2 more	GUncertain significance
Select item 307242	NM_002834.5(PTPN11):c.*1157ATG[13]	PTPN11	Microsatellite (3 prime UTR variant)	Noonan syndrome +2 more	GUncertain significance
Select item 307241	NM_002834.5(PTPN11):c.*1157ATG[16]	PTPN11	Microsatellite (3 prime UTR variant)	Noonan syndrome +2 more	GUncertain significance
Select item 307240	NM_002834.5(PTPN11):c.*1157ATG[14]	PTPN11	Microsatellite (3 prime UTR variant)	Metachondromatosis +2 more	GLikely benign
Select item 307239	NM_002834.5(PTPN11):c.*1157ATG[17]	PTPN11	Microsatellite (3 prime UTR variant)	Metachondromatosis +3 more	GConflicting classifications of pathogenicity
Select item 307236	NM_002834.5(PTPN11):c.*1006del	PTPN11	Deletion (3 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +3 more	GLikely benign
Select item 307230	NM_002834.5(PTPN11):c.*656del	PTPN11	Deletion (3 prime UTR variant)	Noonan syndrome +2 more	GUncertain significance
Select item 307227	NM_002834.5(PTPN11):c.41_46del	PTPN11	Deletion (3 prime UTR variant)	PTPN11-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 181509	NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn)	RAF1 (D381N +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 177923	NM_002880.3(RAF1):c.-415-1C>G	RAF1	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 44821	NM_004333.6(BRAF):c.2128-5del	BRAF	Deletion (intron variant)	Cardio-facio-cutaneous syndrome +5 more	GBenign/Likely benign
Select item 44820	NM_004333.6(BRAF):c.2128-5dup	BRAF	Duplication (intron variant)	Cardio-facio-cutaneous syndrome +5 more	GConflicting classifications of pathogenicity
Select item 44625	NM_002880.4(RAF1):c.321-14dup	RAF1	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 40818	NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu)	MAP2K2 (R231L)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance FDA Recognized database
Select item 40573	NM_002880.3(RAF1):c.-340_-339GA[1]	RAF1	Microsatellite	RASopathy	GBenign FDA Recognized database
Select item 40566	NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	PTPN11 (Q510E +2 more)	Single nucleotide variant (missense variant)	RASopathy +8 more	GPathogenic
Select item 40563	NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	PTPN11 (Q506P +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +6 more	GPathogenic
Select item 40554	NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	PTPN11 (R498L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +11 more	GPathogenic
Select item 40553	NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	PTPN11 (R498W +2 more)	Single nucleotide variant (missense variant)	RASopathy +10 more	GPathogenic
Select item 40547	NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)	PTPN11 (T468P +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 40546	NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)	PTPN11 (A461S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 40525	NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	PTPN11 (I282V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality +11 more	GPathogenic
Select item 40518	NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	PTPN11 (Q256R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 40500	NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)	PTPN11 (A72P +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic/Likely pathogenic
Select item 40348	NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)	BRAF (L245F +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF (T241P +4 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic/Likely pathogenic
Select item 21342	NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)	RAF1 (T491I +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 21341	NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn)	RAF1 (D486N +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome with multiple lentigines	Gnot provided
Select item 13960	NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	RAF1 (L613V +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 13957	NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	RAF1 (S257L +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 13344	NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	PTPN11 (Q510P +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome with multiple lentigines	GPathogenic FDA Recognized database
Select item 13343	NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	PTPN11 (G464A +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 13342	NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	PTPN11 (A461T +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 13331	NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	PTPN11 (T468M +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome with multiple lentigines	GPathogenic FDA Recognized database
Select item 13328	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	PTPN11 (Y279C +1 more)	Single nucleotide variant (missense variant)	RASopathy +12 more	GPathogenic/Likely pathogenic

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Items: 43