C0024305[trait identifier] AND "Database of Curated Mutations (DoCM)"[ - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375876	NM_002524.5(NRAS):c.38G>T (p.Gly13Val)	NRAS (G13V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely 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 13899	NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	NRAS (G13R)	Single nucleotide variant (missense variant)	Noonan syndrome 6	GLikely pathogenic
Select item 37055	NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)	MYD88 (L252P +2 more)	Single nucleotide variant (stop lost +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 376524	NM_001664.4(RHOA):c.125A>T (p.Tyr42Phe)	RHOA (Y42F)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376523	NM_001664.4(RHOA):c.125A>C (p.Tyr42Ser)	RHOA (Y42S)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376522	NM_001664.4(RHOA):c.125A>G (p.Tyr42Cys)	RHOA (Y42C)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376521	NM_001664.4(RHOA):c.14G>T (p.Arg5Leu)	RHOA (R5L)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +4 more	GLikely pathogenic
Select item 376520	NM_001664.4(RHOA):c.14G>A (p.Arg5Gln)	RHOA (R5Q)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +4 more	GLikely pathogenic
Select item 376519	NM_001664.4(RHOA):c.13C>T (p.Arg5Trp)	RHOA (R5W)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +4 more	GLikely pathogenic
Select item 376498	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	PIK3CA (V344M)	Single nucleotide variant (missense variant)	Cowden syndrome +3 more	GPathogenic
Select item 376499	NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala)	PIK3CA (V344A)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +7 more	GLikely pathogenic
Select item 376497	NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly)	PIK3CA (V344G)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 13972	NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	BRAF (D594G +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 13971	NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	BRAF (G469A +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 13970	NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)	BRAF (G469R +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +1 more	GPathogenic/Likely pathogenic
Select item 376218	NM_004456.5(EZH2):c.1937A>C (p.Tyr646Ser)	EZH2 (Y646S +4 more)	Single nucleotide variant (missense variant)	Lymphoma +2 more	GLikely pathogenic
Select item 76768	NM_004456.5(EZH2):c.1937A>T (p.Tyr646Phe)	EZH2 (Y646F +4 more)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +2 more	GLikely pathogenic
Select item 376217	NM_004456.5(EZH2):c.1936T>A (p.Tyr646Asn)	EZH2 (Y646N +4 more)	Single nucleotide variant (missense variant)	Lymphoma +2 more	GLikely pathogenic
Select item 76769	NM_004456.5(EZH2):c.1936T>C (p.Tyr646His)	EZH2 (Y646H +4 more)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +2 more	GLikely pathogenic
Select item 376413	NM_004456.5(EZH2):c.1922A>C (p.Glu641Ala)	EZH2 (E641A +4 more)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +1 more	GLikely pathogenic
Select item 376412	NM_004456.5(EZH2):c.1922A>T (p.Glu641Val)	EZH2 (E641V +4 more)	Single nucleotide variant (missense variant)	Non-Hodgkin lymphoma +1 more	GLikely pathogenic
Select item 376459	NM_002467.6(MYC):c.173C>T (p.Pro58Leu)	MYC (P58L +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +4 more	GLikely pathogenic
Select item 376458	NM_002467.6(MYC):c.217A>C (p.Thr73Pro)	MYC (T73P +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +4 more	GLikely pathogenic
Select item 376300	NM_002467.6(MYC):c.218C>T (p.Thr73Ile)	MYC (T73I +1 more)	Single nucleotide variant (missense variant)	Neoplasm +5 more	GLikely pathogenic
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 376448	NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr)	MAP2K1 (K57T)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +5 more	GLikely pathogenic
Select item 376174	NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn)	MAP2K1 (K57N)	Single nucleotide variant (missense variant)	Melanoma +6 more	GLikely 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 376663	NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)	TP53 (S109Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 177791	NM_000546.6(TP53):c.722C>G (p.Ser241Cys)	TP53 (S109C +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 12359	NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	TP53 (S241F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +14 more	GPathogenic/Likely pathogenic
Select item 376665	NM_000546.6(TP53):c.721T>G (p.Ser241Ala)	TP53 (S109A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376664	NM_000546.6(TP53):c.721T>C (p.Ser241Pro)	TP53 (S109P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376683	NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)	TP53 (Y166S +3 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +15 more	GLikely pathogenic
Select item 376682	NM_000546.6(TP53):c.614A>T (p.Tyr205Phe)	TP53 (Y166F +3 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +15 more	GLikely pathogenic
Select item 376681	NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)	TP53 (Y166C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic
Select item 376686	NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	TP53 (Y166D +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 376685	NM_000546.6(TP53):c.613T>C (p.Tyr205His)	TP53 (Y166H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376684	NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	TP53 (Y166N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity

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Items: 47