ClinVar for MedGen (Select 57486) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257758	NM_004333.6(BRAF):c.1798_1799delinsAA	BRAF (V600E +15 more)	Single nucleotide variant (missense variant)	Neoplasm	OOncogenic
Select item 3257753	NM_000546.6(TP53):c.373_375+1delinsCCTT	TP53 (T125P +1 more)	Single nucleotide variant (synonymous variant +2 more)	Neoplasm	OLikely oncogenic
Select item 376689	NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)	TP53 (Y181D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376688	NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)	TP53 (Y181N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376687	NM_000546.6(TP53):c.658T>C (p.Tyr220His)	TP53 (Y181H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376680	NM_000546.6(TP53):c.487T>C (p.Tyr163His)	TP53 (Y124H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376679	NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)	TP53 (Y124N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 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 376677	NM_000546.6(TP53):c.821T>C (p.Val274Ala)	TP53 (V142A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing 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 +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 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 376669	NM_000546.6(TP53):c.518T>A (p.Val173Glu)	TP53 (V134E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376668	NM_000546.6(TP53):c.517G>T (p.Val173Leu)	TP53 (V134L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376667	NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	TP53 (T125R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 376666	NM_000546.6(TP53):c.373A>C (p.Thr125Pro)	TP53 (T125P +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376665	NM_000546.6(TP53):c.721T>G (p.Ser241Ala)	TP53 (S109A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 376663	NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)	TP53 (S109Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376659	NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	TP53 (R150P +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +14 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 +3 more	GConflicting classifications of pathogenicity
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 376656	NM_000546.6(TP53):c.817C>A (p.Arg273Ser)	TP53 (R141S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +15 more	GPathogenic OOncogenic
Select item 376652	NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	TP53 (R116G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376651	NM_000546.6(TP53):c.637C>G (p.Arg213Gly)	TP53 (R174G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376650	NM_000546.6(TP53):c.638G>T (p.Arg213Leu)	TP53 (R174L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376649	NM_000546.6(TP53):c.523C>G (p.Arg175Gly)	TP53 (R136G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 376646	NM_000546.6(TP53):c.833C>A (p.Pro278His)	TP53 (P146H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376645	NM_000546.6(TP53):c.832C>G (p.Pro278Ala)	TP53 (P146A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 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 +2 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 +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 +3 more	GPathogenic/Likely pathogenic
Select item 376641	NM_000546.6(TP53):c.451C>G (p.Pro151Ala)	TP53 (P112A +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 376640	NM_000546.6(TP53):c.452C>G (p.Pro151Arg)	TP53 (P112R +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376639	NM_000546.6(TP53):c.452C>A (p.Pro151His)	TP53 (P112H +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 376632	NM_000546.6(TP53):c.332T>A (p.Leu111Gln)	TP53 (L111Q +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376631	NM_000546.6(TP53):c.332T>G (p.Leu111Arg)	TP53 (L111R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376630	NM_000546.6(TP53):c.332T>C (p.Leu111Pro)	TP53 (L111P +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376611	NM_000546.6(TP53):c.536A>C (p.His179Pro)	TP53 (H140P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376610	NM_000546.6(TP53):c.535C>G (p.His179Asp)	TP53 (H140D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 376609	NM_000546.6(TP53):c.535C>A (p.His179Asn)	TP53 (H140N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376608	NM_000546.6(TP53):c.536A>T (p.His179Leu)	TP53 (H140L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
Select item 376607	NM_000546.6(TP53):c.537T>G (p.His179Gln)	TP53 (H140Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 376606	NM_000546.6(TP53):c.536A>G (p.His179Arg)	TP53 (H140R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376605	NM_000546.6(TP53):c.796G>C (p.Gly266Arg)	TP53 (G134R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
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 376591	NM_000546.6(TP53):c.856G>C (p.Glu286Gln)	TP53 (E154Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity OLikely oncogenic
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 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 376588	NM_000546.6(TP53):c.841G>C (p.Asp281His)	TP53 (D149H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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	GConflicting classifications of pathogenicity
Select item 376586	NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	TP53 (D149N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing 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 +2 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 376584	NM_000546.6(TP53):c.823T>C (p.Cys275Arg)	TP53 (C143R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
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 376536	NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)	SF3B1 (R625G)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +3 more	GLikely pathogenic
Select item 376535	NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)	SF3B1 (R625C)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma +3 more	GLikely pathogenic
Select item 376534	NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)	SF3B1 (R625H)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 376532	NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln)	SF3B1 (K666Q)	Single nucleotide variant (missense variant)	Breast neoplasm +3 more	GLikely pathogenic
Select item 376531	NM_006842.3(SF3B2):c.1997A>C (p.His666Pro)	SF3B2 (H666P)	Single nucleotide variant (missense variant)	Breast neoplasm +3 more	GLikely pathogenic
Select item 376527	NM_005444.3(CNOT9):c.260C>G (p.Ser87Cys)	CNOT9 (S87C)	Single nucleotide variant (missense variant +1 more)	Prostate adenocarcinoma +4 more	GLikely pathogenic
Select item 376526	NM_005444.3(CNOT9):c.259T>C (p.Ser87Pro)	CNOT9 (S87P)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +4 more	GLikely pathogenic
Select item 376525	NM_005444.3(CNOT9):c.391C>T (p.Pro131Ser)	CNOT9 (P131S)	Single nucleotide variant (missense variant)	Malignant melanoma of skin	GLikely pathogenic
Select item 376514	NM_002880.4(RAF1):c.770C>G (p.Ser257Trp)	RAF1 (S257W +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 376513	NM_006908.5(RAC1):c.85C>A (p.Pro29Thr)	RAC1 (P29T)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376512	NM_006908.5(RAC1):c.86C>T (p.Pro29Leu)	RAC1 (P29L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376509	NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)	PTEN (R130L +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376508	NM_002721.5(PPP6C):c.790C>T (p.Arg264Cys)	PPP6C (R242C +2 more)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +1 more	GLikely pathogenic
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 376498	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	PIK3CA (V344M)	Single nucleotide variant (missense variant)	Cowden syndrome 5 +3 more	GPathogenic
Select item 376497	NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly)	PIK3CA (V344G)	Single nucleotide variant (missense variant)	Breast neoplasm +8 more	GLikely pathogenic
Select item 376491	NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)	PIK3CA (Q546H)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +12 more	GLikely pathogenic
Select item 376481	NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)	PIK3CA (H1047Q)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +21 more	GLikely pathogenic
Select item 376459	NM_002467.6(MYC):c.173C>T (p.Pro58Leu)	MYC (P58L +1 more)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +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 376457	NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)	MTOR (S2215T)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +6 more	GLikely pathogenic
Select item 376449	NM_030662.4(MAP2K2):c.171T>G (p.Phe57Leu)	MAP2K2 (F57L)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +3 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 376447	NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile)	MAP2K1 (F53I)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +3 more	GLikely pathogenic
Select item 376446	NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val)	MAP2K1 (F53V)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +4 more	GLikely pathogenic OOncogenic
Select item 376445	NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu)	MAP2K1 (F53L)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +3 more	GLikely pathogenic
Select item 376444	NM_005343.4(HRAS):c.181C>G (p.Gln61Glu)	HRAS, LRRC56 (Q61E)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +12 more	GLikely pathogenic
Select item 376441	NM_033286.4(KNSTRN):c.71C>T (p.Ser24Phe)	KNSTRN (S24F)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +1 more	GLikely pathogenic
Select item 376440	NM_000222.3(KIT):c.1926A>C (p.Lys642Asn)	KIT (K642N +3 more)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +1 more	GLikely pathogenic
Select item 376427	NM_001349798.2(FBXW7):c.1973G>A (p.Arg658Gln)	FBXW7 (R658Q +2 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +7 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 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)	Carcinoma of esophagus +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 376422	NM_001349798.2(FBXW7):c.1435C>G (p.Arg479Gly)	FBXW7 (R479G +2 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +11 more	GLikely pathogenic
Select item 376421	NM_001349798.2(FBXW7):c.1436G>T (p.Arg479Leu)	FBXW7 (R479L +2 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +11 more	GLikely pathogenic
Select item 376420	NM_001349798.2(FBXW7):c.1436G>C (p.Arg479Pro)	FBXW7 (R479P +2 more)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +11 more	GLikely pathogenic
Select item 376419	NM_001349798.2(FBXW7):c.1436G>A (p.Arg479Gln)	FBXW7 (R479Q +2 more)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +11 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 376404	NM_004448.4(ERBB2):c.2263T>A (p.Leu755Met)	ERBB2 (L725M +17 more)	Single nucleotide variant (missense variant +2 more)	Papillary renal cell carcinoma, sporadic +6 more	GLikely pathogenic
Select item 376394	NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)	CTNNB1, LOC126806658 (T41N +1 more)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +7 more	GLikely pathogenic

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