C0279663[trait identifier] AND "Database of Curated Mutations (DoCM)"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373003	NM_002524.5(NRAS):c.183A>T (p.Gln61His)	NRAS (Q61H)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 375874	NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)	NRAS (Q61L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 280409	NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	NRAS (Q61P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13900	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS (Q61R)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +3 more	GConflicting classifications of pathogenicity
Select item 73058	NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	NRAS (Q61K)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +2 more	GConflicting classifications of pathogenicity
Select item 375896	NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)	PIK3CA (E545Q)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +26 more	GPathogenic/Likely pathogenic; drug response
Select item 13655	NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	PIK3CA (E545K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 13659	NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)	PIK3CA (E545A)	Single nucleotide variant (missense variant)	Neoplasm of ovary	GPathogenic
Select item 13656	NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	PIK3CA (E545G)	Single nucleotide variant (missense variant)	Melanoma +26 more	GPathogenic/Likely pathogenic
Select item 217293	NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	PIK3CA (E545D)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GPathogenic/Likely pathogenic
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	CLOVES syndrome +17 more	GPathogenic
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GPathogenic
Select item 13652	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	PIK3CA (H1047R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376481	NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)	PIK3CA (H1047Q)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +21 more	GLikely pathogenic
Select item 376425	NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His)	FBXW7 (R505H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376424	NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu)	FBXW7 (R505L +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +11 more	GLikely pathogenic
Select item 376426	NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser)	FBXW7 (R505S +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +11 more	GLikely pathogenic
Select item 376423	NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly)	FBXW7 (R505G +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +11 more	GLikely pathogenic
Select item 69961	NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys)	FBXW7 (R505C +2 more)	Single nucleotide variant (missense variant)	FBXW7-related neurodevelopmental disorder	GLikely pathogenic
Select item 376417	NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)	FBXW7 (R465L +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +13 more	GLikely pathogenic
Select item 376416	NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)	FBXW7 (R465P +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +13 more	GLikely pathogenic
Select item 376415	NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)	FBXW7 (R465H +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +13 more	GLikely pathogenic
Select item 376418	NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)	FBXW7 (R465G +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +13 more	GLikely pathogenic
Select item 376414	NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)	FBXW7 (R465C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 376376	NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)	BRAF (N581T +7 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma, sporadic +6 more	GConflicting classifications of pathogenicity
Select item 177776	NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)	BRAF (N581S +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 55794	NM_004333.6(BRAF):c.1741A>C (p.Asn581His)	BRAF (N581H +7 more)	Single nucleotide variant (missense variant)	BRAF-related condition +1 more	GConflicting classifications of pathogenicity
Select item 12603	NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	HRAS, LRRC56 (G12A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GPathogenic
Select item 12613	NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	HRAS, LRRC56 (G12C)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +6 more	GPathogenic
Select item 12602	NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	HRAS, LRRC56 (G12S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database
Select item 376370	NM_004048.4(B2M):c.1A>T (p.Met1Leu)	B2M (M1L)	Single nucleotide variant (missense variant +1 more)	Non-Hodgkin lymphoma +9 more	GLikely pathogenic
Select item 376369	NM_004048.4(B2M):c.1A>G (p.Met1Val)	B2M (M1V)	Single nucleotide variant (missense variant +1 more)	Squamous cell lung carcinoma +9 more	GLikely pathogenic
Select item 376372	NM_004048.4(B2M):c.2T>G (p.Met1Arg)	B2M (M1R)	Single nucleotide variant (missense variant +1 more)	Squamous cell lung carcinoma +9 more	GLikely pathogenic
Select item 376371	NM_004048.4(B2M):c.2T>C (p.Met1Thr)	B2M (M1T)	Single nucleotide variant (missense variant +1 more)	Squamous cell lung carcinoma +9 more	GLikely pathogenic
Select item 376368	NM_004048.4(B2M):c.3G>A (p.Met1Ile)	B2M (M1I)	Single nucleotide variant (missense variant +1 more)	Non-Hodgkin lymphoma +9 more	GLikely pathogenic
Select item 376593	NM_000546.6(TP53):c.857A>C (p.Glu286Ala)	TP53 (E154A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 376592	NM_000546.6(TP53):c.857A>T (p.Glu286Val)	TP53 (E154V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376590	NM_000546.6(TP53):c.857A>G (p.Glu286Gly)	TP53 (E154G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376591	NM_000546.6(TP53):c.856G>C (p.Glu286Gln)	TP53 (E154Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 183752	NM_000546.6(TP53):c.856G>A (p.Glu286Lys)	TP53 (E154K +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376659	NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	TP53 (R150P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +14 more	GPathogenic/Likely pathogenic
Select item 237956	NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	TP53 (R150Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 140821	NM_000546.6(TP53):c.844C>G (p.Arg282Gly)	TP53 (R150G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +8 more	GPathogenic/Likely pathogenic
Select item 376587	NM_000546.6(TP53):c.843C>G (p.Asp281Glu)	TP53 (D149E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 376589	NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	TP53 (D149A +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 182968	NM_000546.6(TP53):c.842A>T (p.Asp281Val)	TP53 (D149V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GPathogenic/Likely pathogenic
Select item 141141	NM_000546.6(TP53):c.842A>G (p.Asp281Gly)	TP53 (D149G +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 376588	NM_000546.6(TP53):c.841G>C (p.Asp281His)	TP53 (D149H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376586	NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	TP53 (D149N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic/Likely pathogenic
Select item 376585	NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	TP53 (D149Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 376657	NM_000546.6(TP53):c.839G>A (p.Arg280Lys)	TP53 (R148K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 161517	NM_000546.6(TP53):c.839G>T (p.Arg280Ile)	TP53 (R148I +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 12368	NM_000546.6(TP53):c.839G>C (p.Arg280Thr)	TP53 (R280T +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376658	NM_000546.6(TP53):c.838A>G (p.Arg280Gly)	TP53 (R148G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 376646	NM_000546.6(TP53):c.833C>A (p.Pro278His)	TP53 (P146H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376644	NM_000546.6(TP53):c.833C>G (p.Pro278Arg)	TP53 (P146R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 232497	NM_000546.6(TP53):c.833C>T (p.Pro278Leu)	TP53 (P146L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 376645	NM_000546.6(TP53):c.832C>G (p.Pro278Ala)	TP53 (P146A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 376643	NM_000546.6(TP53):c.832C>A (p.Pro278Thr)	TP53 (P146T +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376642	NM_000546.6(TP53):c.832C>T (p.Pro278Ser)	TP53 (P146S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 376583	NM_000546.6(TP53):c.824G>C (p.Cys275Ser)	TP53 (C143S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376582	NM_000546.6(TP53):c.824G>T (p.Cys275Phe)	TP53 (C143F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic
Select item 215997	NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	TP53 (C143Y +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +4 more	GPathogenic/Likely pathogenic
Select item 376584	NM_000546.6(TP53):c.823T>C (p.Cys275Arg)	TP53 (C143R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376677	NM_000546.6(TP53):c.821T>C (p.Val274Ala)	TP53 (V142A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376676	NM_000546.6(TP53):c.821T>G (p.Val274Gly)	TP53 (V142G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376675	NM_000546.6(TP53):c.821T>A (p.Val274Asp)	TP53 (V142D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376678	NM_000546.6(TP53):c.820G>C (p.Val274Leu)	TP53 (V142L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376674	NM_000546.6(TP53):c.820G>T (p.Val274Phe)	TP53 (V142F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +14 more	GPathogenic
Select item 231060	NM_000546.6(TP53):c.818G>C (p.Arg273Pro)	TP53 (R141P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic/Likely pathogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 376656	NM_000546.6(TP53):c.817C>A (p.Arg273Ser)	TP53 (R141S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 376673	NM_000546.6(TP53):c.815T>A (p.Val272Glu)	TP53 (V140E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 233323	NM_000546.6(TP53):c.815T>G (p.Val272Gly)	TP53 (V140G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 185814	NM_000546.6(TP53):c.814G>A (p.Val272Met)	TP53 (V140M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GPathogenic FDA Recognized database
Select item 12358	NM_000546.6(TP53):c.814G>T (p.Val272Leu)	TP53 (V272L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GLikely pathogenic
Select item 376595	NM_000546.6(TP53):c.810T>G (p.Phe270Leu)	TP53 (F138L +3 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +8 more	GLikely pathogenic
Select item 376597	NM_000546.6(TP53):c.809T>G (p.Phe270Cys)	TP53 (F138C +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 376594	NM_000546.6(TP53):c.809T>C (p.Phe270Ser)	TP53 (F138S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 376598	NM_000546.6(TP53):c.808T>G (p.Phe270Val)	TP53 (F138V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 376596	NM_000546.6(TP53):c.808T>A (p.Phe270Ile)	TP53 (F138I +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 233303	NM_000546.6(TP53):c.797G>T (p.Gly266Val)	TP53 (G134V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 161516	NM_000546.6(TP53):c.797G>A (p.Gly266Glu)	TP53 (G134E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 376605	NM_000546.6(TP53):c.796G>C (p.Gly266Arg)	TP53 (G134R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 376653	NM_000546.6(TP53):c.746G>T (p.Arg249Met)	TP53 (R117M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376015	NM_000546.6(TP53):c.746G>C (p.Arg249Thr)	TP53 (R117T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 142241	NM_000546.6(TP53):c.746G>A (p.Arg249Lys)	TP53 (R117K +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 376654	NM_000546.6(TP53):c.745A>G (p.Arg249Gly)	TP53 (R117G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 141881	NM_000546.6(TP53):c.745A>T (p.Arg249Trp)	TP53 (R117W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
Select item 237954	NM_000546.6(TP53):c.743G>C (p.Arg248Pro)	TP53 (R116P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 230253	NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	TP53 (R116L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 376652	NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	TP53 (R116G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 12347	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	TP53 (R248W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 376603	NM_000546.6(TP53):c.734G>T (p.Gly245Val)	TP53 (G113V +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 265357	NM_000546.6(TP53):c.734G>C (p.Gly245Ala)	TP53 (G113A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 12355	NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	TP53 (G245D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 376604	NM_000546.6(TP53):c.733G>C (p.Gly245Arg)	TP53 (G113R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity

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