ClinVar for MedGen (Select 9944) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584758	NM_000455.5(STK11):c.667G>T (p.Glu223Ter)	STK11 (E223*)	Single nucleotide variant (nonsense +1 more)	Melanoma	GLikely pathogenic
Select item 2584757	NM_000455.5(STK11):c.431del (p.Pro144fs)	STK11 (P144fs)	Deletion (frameshift variant +1 more)	Melanoma	GLikely pathogenic
Select item 2584756	NM_000455.5(STK11):c.140del (p.Gly47fs)	STK11 (G47fs)	Deletion (frameshift variant +1 more)	Melanoma	GLikely pathogenic
Select item 2498282	NM_004333.6(BRAF):c.1799_1800delinsAC (p.Val600Asp)	BRAF (V512D +7 more)	Indel (missense variant)	Melanoma	GUncertain significance
Select item 2203023	NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys)	DNMT3A (R749C +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 523315	NM_000059.4(BRCA2):c.2063A>G (p.Tyr688Cys)	BRCA2 (Y688C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 419802	NM_000077.5(CDKN2A):c.197A>C (p.His66Pro)	CDKN2A (H66P +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 376362	NM_006908.5(RAC1):c.85C>T (p.Pro29Ser)	RAC1 (P29S)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376358	NM_004958.4(MTOR):c.6637C>T (p.Pro2213Ser)	MTOR (P2213S)	Single nucleotide variant (missense variant)	Melanoma	Gnot provided
Select item 376357	NM_004958.4(MTOR):c.5902C>T (p.His1968Tyr)	MTOR (H1968Y)	Single nucleotide variant (missense variant)	Melanoma	Gnot provided
Select item 376295	NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala)	BRAF (G466A +7 more)	Single nucleotide variant (missense variant)	Melanoma +6 more	GLikely pathogenic
Select item 376290	NM_004333.6(BRAF):c.1784T>C (p.Phe595Ser)	BRAF (F595S +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376289	NM_004333.6(BRAF):c.1798G>C (p.Val600Leu)	BRAF (V600L +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GPathogenic/Likely pathogenic
Select item 376288	NM_004333.6(BRAF):c.1799T>C (p.Val600Ala)	BRAF (V600A +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376287	NM_004333.6(BRAF):c.1801_1803del (p.Lys601del)	BRAF (K601del +7 more)	Deletion (inframe_deletion)	Melanoma	GLikely pathogenic
Select item 376286	NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn)	BRAF (K601N +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 376285	NM_004333.6(BRAF):c.1803A>T (p.Lys601Asn)	BRAF (K601N +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376284	NM_004333.6(BRAF):c.1813_1814delinsTT (p.Ser605Phe)	BRAF (S605F +7 more)	Indel (missense variant)	Melanoma	GLikely pathogenic
Select item 376283	NM_004333.6(BRAF):c.1814G>A (p.Ser605Asn)	BRAF (S605N +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376256	NM_000222.3(KIT):c.2474T>C (p.Val825Ala)	KIT (V825A +5 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376240	NM_001904.4(CTNNB1):c.119C>T (p.Thr40Ile)	CTNNB1, LOC126806658 (T40I +1 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376229	NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)	CTNNB1, LOC126806658 (D32A +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 376227	NM_001904.4(CTNNB1):c.74_97del (p.Trp25_Asp32del)	CTNNB1, LOC126806658	Deletion (inframe_deletion)	Melanoma	GLikely pathogenic
Select item 376226	NM_001904.4(CTNNB1):c.65T>C (p.Val22Ala)	CTNNB1, LOC126806658 (V22A +1 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376225	NM_001904.4(CTNNB1):c.65_115del (p.Val22_Gly38del)	CTNNB1, LOC126806658	Deletion (inframe_deletion)	Melanoma	GLikely pathogenic
Select item 376224	NM_001904.4(CTNNB1):c.61G>A (p.Ala21Thr)	CTNNB1, LOC126806658 (A21T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376223	NM_001904.4(CTNNB1):c.37G>A (p.Ala13Thr)	CTNNB1, LOC126806658 (A13T +1 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376220	NM_002524.5(NRAS):c.181_182delinsAG (p.Gln61Arg)	NRAS (Q61R)	Indel (missense variant)	Melanoma	GLikely pathogenic
Select item 376186	NM_002880.4(RAF1):c.1103G>C (p.Trp368Ser)	RAF1 (W368S +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma	GLikely pathogenic
Select item 376185	NM_006206.6(PDGFRA):c.2558G>A (p.Gly853Asp)	PDGFRA (G853D +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 376184	NM_006206.6(PDGFRA):c.2533C>T (p.His845Tyr)	PDGFRA (H845Y +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 376183	NM_006206.6(PDGFRA):c.2522G>A (p.Arg841Lys)	PDGFRA (R841K +2 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376182	NM_006206.6(PDGFRA):c.1973T>C (p.Val658Ala)	PDGFRA (V658A +2 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376181	NM_006206.6(PDGFRA):c.1729C>T (p.Pro577Ser)	PDGFRA (P577S +2 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376180	NM_030662.4(MAP2K2):c.103G>A (p.Val35Met)	MAP2K2 (V35M)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376179	NM_030662.4(MAP2K2):c.136C>T (p.Leu46Phe)	MAP2K2 (L46F)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376178	NM_030662.4(MAP2K2):c.179A>C (p.Gln60Pro)	MAP2K2 (Q60P)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376177	NM_030662.4(MAP2K2):c.373T>A (p.Cys125Ser)	MAP2K2 (C125S)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376176	NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)	MAP2K2 (N126D)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 376175	NM_002755.4(MAP2K1):c.385T>C (p.Phe129Leu)	MAP2K1 (F129L)	Single nucleotide variant (missense variant)	Melanoma	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 376173	NM_002755.4(MAP2K1):c.169A>G (p.Lys57Glu)	MAP2K1 (K57E)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 376172	NM_005235.3(ERBB4):c.1177C>T (p.Arg393Trp)	ERBB4 (R393W)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376171	NM_005235.3(ERBB4):c.1624G>A (p.Glu542Lys)	ERBB4 (E542K)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376170	NM_005235.3(ERBB4):c.2614G>A (p.Glu872Lys)	ERBB4 (E872K)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376169	NM_004333.6(BRAF):c.1802A>G (p.Lys601Arg)	BRAF (K601R +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376168	NM_001382430.1(AKT1):c.235C>A (p.Gln79Lys)	AKT1 (Q79K)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376074	NM_004333.6(BRAF):c.1330C>T (p.Arg444Trp)	BRAF (R444W +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376073	NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)	BRAF (G466E +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 376072	NM_004333.6(BRAF):c.1405_1406delinsTC (p.Gly469Ser)	BRAF (G469S +7 more)	Indel (missense variant)	Melanoma	GLikely pathogenic
Select item 376071	NM_004333.6(BRAF):c.1774A>G (p.Ile592Val)	BRAF (I592V +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376070	NM_004333.6(BRAF):c.1781A>C (p.Asp594Ala)	BRAF (D594A +7 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376069	NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu)	BRAF (V600E +7 more)	Indel (missense variant)	Melanoma +1 more	GLikely pathogenic
Select item 376057	NM_000222.3(KIT):c.1961T>A (p.Val654Glu)	KIT (V654E +3 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376054	NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)	CTNNB1, LOC126806658 (D32H +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 376028	NM_002524.5(NRAS):c.52G>A (p.Ala18Thr)	NRAS (A18T)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376027	NM_002524.5(NRAS):c.181C>T (p.Gln61Ter)	NRAS (Q61*)	Single nucleotide variant (nonsense)	Melanoma	GLikely pathogenic
Select item 376002	NM_002067.5(GNA11):c.626A>T (p.Gln209Leu)	GNA11 (Q209L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 376001	NM_002067.5(GNA11):c.626A>C (p.Gln209Pro)	GNA11 (Q209P)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375984	NM_002755.4(MAP2K1):c.1144A>C (p.Asn382His)	SNAPC5, MAP2K1 (N382H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Melanoma	GPathogenic
Select item 375983	NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser)	MAP2K1 (P264S)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 375982	NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)	MAP2K1 (E203K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 375981	NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	MAP2K1 (P124S)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 375980	NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser)	MAP2K1 (C121S)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375979	NM_002755.4(MAP2K1):c.332T>G (p.Ile111Ser)	MAP2K1 (I111S)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 375978	NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)	MAP2K1 (Q56P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 375977	NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu)	MAP2K1 (F53L)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 375957	NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro)	GNAQ (Q209P)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375956	NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)	GNAQ (Q209R)	Single nucleotide variant (missense variant)	Sturge-Weber syndrome	GPathogenic
Select item 375955	NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)	GNAQ (Q209L)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375948	NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn)	BRAF (D594N +7 more)	Indel (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375947	NM_004333.6(BRAF):c.1780G>C (p.Asp594His)	BRAF (D594H +7 more)	Single nucleotide variant (missense variant)	Melanoma +9 more	GPathogenic/Likely pathogenic
Select item 375946	NM_004333.6(BRAF):c.1781A>T (p.Asp594Val)	BRAF (D594V +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 375945	NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu)	BRAF (D594E +7 more)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 375944	NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu)	BRAF (D594E +7 more)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375943	NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg)	BRAF (G596R +7 more)	Single nucleotide variant (missense variant)	Multiple myeloma +5 more	GPathogenic/Likely pathogenic
Select item 375942	NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser)	BRAF (L597S +7 more)	Indel (missense variant)	Melanoma	GPathogenic
Select item 375941	NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)	BRAF (V600K +7 more)	Indel (missense variant)	Melanoma +1 more	GConflicting classifications of pathogenicity
Select item 375940	NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg)	BRAF (V600R +7 more)	Indel (missense variant)	Melanoma	GPathogenic
Select item 375939	NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp)	BRAF (V600D +7 more)	Indel (missense variant)	Melanoma	GPathogenic
Select item 375933	NM_000222.3(KIT):c.2485G>C (p.Ala829Pro)	KIT (A829P +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GLikely pathogenic
Select item 375932	NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)	KIT (N822K +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 375931	NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)	KIT (N822K +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375930	NM_000222.3(KIT):c.2465A>T (p.Asn822Ile)	KIT (N822I +5 more)	Single nucleotide variant (missense variant)	Melanoma +2 more	GPathogenic/Likely pathogenic
Select item 375928	NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr)	KIT (D820Y +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GPathogenic
Select item 375927	NM_000222.3(KIT):c.2458G>C (p.Asp820His)	KIT (D820H +5 more)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 375924	NM_000222.3(KIT):c.1965T>G (p.Asn655Lys)	KIT (N655K +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GLikely pathogenic
Select item 375923	NM_000222.3(KIT):c.1965T>A (p.Asn655Lys)	KIT (N655K +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GPathogenic
Select item 375922	NM_000222.3(KIT):c.1964A>G (p.Asn655Ser)	KIT (N655S +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 375921	NM_000222.3(KIT):c.1961T>C (p.Val654Ala)	KIT (V654A +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 375919	NM_000222.3(KIT):c.1727T>C (p.Leu576Pro)	KIT (L576P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 375918	NM_000222.3(KIT):c.1706T>G (p.Val569Gly)	KIT (V569G +3 more)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 375917	NM_000222.3(KIT):c.1696A>G (p.Asn566Asp)	KIT (N566D +3 more)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 375916	NM_000222.3(KIT):c.1679T>G (p.Val560Gly)	KIT (V560G +3 more)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375915	NM_000222.3(KIT):c.1679T>C (p.Val560Ala)	KIT (V560A +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 375914	NM_000222.3(KIT):c.1679T>A (p.Val560Asp)	KIT (V560D +3 more)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375913	NM_000222.3(KIT):c.1676TTG[1] (p.Val560del)	KIT (V560del +3 more)	Microsatellite (inframe_deletion)	Thymoma +2 more	GPathogenic/Likely pathogenic
Select item 375912	NM_000222.3(KIT):c.1676T>G (p.Val559Gly)	KIT (V559G +3 more)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375911	NM_000222.3(KIT):c.1674G>T (p.Lys558Asn)	KIT (K558N +3 more)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375910	NM_000222.3(KIT):c.1674G>C (p.Lys558Asn)	KIT (K558N +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance

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