ClinVar for MedGen (Select 57744) - 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 2583131	NM_005228.5(EGFR):c.2239_2256delinsCAA (p.Leu747_Ser752delinsGln)	EGFR	Indel (inframe_indel)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583130	NM_005228.5(EGFR):c.2555A>C (p.Lys852Thr)	EGFR (K585T +3 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583129	NM_005228.5(EGFR):c.2499G>T (p.Leu833Phe)	EGFR (L566F +3 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583128	NM_005228.5(EGFR):c.2318_2320delinsTCA (p.His773_Val774delinsLeuMet)	EGFR, EGFR-AS1	Indel (non-coding transcript variant +1 more)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583127	NM_005228.5(EGFR):c.2252_2277delinsAT (p.Thr751_Ile759delinsAsn)	EGFR	Indel (inframe_indel)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583126	NM_005228.5(EGFR):c.709_710delinsTT (p.Ala237Phe)	EGFR (A184F +2 more)	Indel (missense variant +1 more)	Lung adenocarcinoma	GLikely pathogenic
Select item 2431184	NM_138554.5(TLR4):c.*4092C>T	TLR4	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431183	NM_000038.6(APC):c.1015A>T (p.Ser339Cys)	APC (S280C +6 more)	Single nucleotide variant (missense variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431182	NM_014491.4(FOXP2):c.1164G>T (p.Val388=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431181	NM_001378902.1(ROS1):c.3167A>G (p.Asn1056Ser)	ROS1 (N1056S +2 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431180	NM_002019.4(FLT1):c.2594-52G>A	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431179	NM_001005738.2(FPR2):c.-15+1402C>T	FPR2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431178	NM_006982.3(ALX1):c.791G>T (p.Gly264Val)	ALX1 (G264V)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431177	NM_001243133.2(NLRP3):c.-748-307A>G	NLRP3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431176	NM_001243133.2(NLRP3):c.1486G>A (p.Asp496Asn)	NLRP3 (D496N +1 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431175	NM_000750.5(CHRNB4):c.319_320delinsAT	CHRNB4	Indel (3 prime UTR variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431174	NM_004465.2(FGF10):c.*723C>A	FGF10	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431173	NM_001304359.2(MUC5AC):c.14528C>A (p.Thr4843Asn)	MUC5AC (T4843N)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431172	NM_001243133.2(NLRP3):c.2338C>A (p.Leu780Ile)	NLRP3 (L723I +2 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431171	NM_207517.3(ADAMTSL3):c.4729G>C (p.Asp1577His)	ADAMTSL3 (D1577H)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431169	NM_003238.6(TGFB2):c.510+148T>G	TGFB2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431167	NM_001304359.2(MUC5AC):c.14615A>G (p.Glu4872Gly)	LOC126861112, MUC5AC (E4872G)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431163	NM_138554.5(TLR4):c.1431A>T (p.Lys477Asn)	TLR4 (K277N +2 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431162	NM_001166694.2(CHRNA3):c.1390-614A>G	CHRNA3, CHRNA5	Single nucleotide variant (3 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431161	NM_001243133.2(NLRP3):c.2353T>C (p.Cys785Arg)	NLRP3 (C728R +2 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431160	NM_001304359.2(MUC5AC):c.9463A>T (p.Thr3155Ser)	MUC5AC (T3155S)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431158	NM_138554.5(TLR4):c.6G>T (p.Met2Ile)	LOC126860749, TLR4 (M2I)	Single nucleotide variant (5 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431154	NM_001243133.2(NLRP3):c.-146T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431153	NM_001243133.2(NLRP3):c.-121T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431152	NM_001378902.1(ROS1):c.682C>G (p.Gln228Glu)	ROS1 (Q219E +1 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431147	NM_000249.4(MLH1):c.1896+179G>C	MLH1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431146	NM_033274.5(ADAM19):c.180+659A>C	ADAM19	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431145	NM_024832.5(RIN3):c.44+240_44+241inv	RIN3	Inversion (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431144	NM_000264.5(PTCH1):c.3168+139G>C	PTCH1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431143	NM_002555.6(SLC22A18):c.865-1046C>T	SLC22A18	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431142	NM_001304359.2(MUC5AC):c.1386+63G>T	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431141	NM_001304359.2(MUC5AC):c.15862-71G>T	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431140	NM_000264.5(PTCH1):c.3449+255G>T	PTCH1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431139	NM_004304.5(ALK):c.2205-116G>A	ALK	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431138	NM_000325.6(PITX2):c.412-283C>A	PITX2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431137	NM_203416.4(CD163):c.3344-144C>G	CD163	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431136	NM_006182.4(DDR2):c.1294-109C>T	DDR2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431135	NM_006182.4(DDR2):c.1728+293A>G	DDR2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431134	NM_001243133.2(NLRP3):c.2151-225C>A	NLRP3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431133	NM_207517.3(ADAMTSL3):c.318-243T>C	ADAMTSL3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431132	NM_001012426.2(FOXP4):c.511-141G>T	FOXP4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431131	NM_014491.4(FOXP2):c.2003+1336G>C	FOXP2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431130	NM_014491.4(FOXP2):c.2003+4074C>A	FOXP2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431129	NM_002019.4(FLT1):c.3721-78C>A	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431128	NM_001378902.1(ROS1):c.5062-46A>C	ROS1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431127	NM_001304359.2(MUC5AC):c.3777-148T>A	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431125	NM_014883.4(FAM13A):c.1459-515_1459-514inv	FAM13A	Inversion (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431124	NM_001012426.2(FOXP4):c.-16-161C>A	FOXP4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431123	NM_033274.5(ADAM19):c.251+324T>G	ADAM19	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431122	NM_198569.3(ADGRG6):c.2541+185_2541+187delinsTCT	ADGRG6	Indel (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431121	NM_198569.3(ADGRG6):c.2541+173_2541+175inv	ADGRG6	Inversion (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431119	NM_002019.4(FLT1):c.3174+225T>G	FLT1, LOC124849303	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431118	NM_024832.5(RIN3):c.367+51A>T	RIN3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431117	NM_005228.5(EGFR):c.88+24313G>C	EGFR	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431116	NM_004136.4(IREB2):c.1023+1037G>A	IREB2	Single nucleotide variant (3 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431114	NM_002019.4(FLT1):c.1106+219G>T	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431113	NM_000249.4(MLH1):c.207+346G>C	MLH1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431111	NM_198569.3(ADGRG6):c.2127+438T>C	ADGRG6	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431105	NM_001382430.1(AKT1):c.287+402_287+403delinsGG	AKT1	Indel (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431103	NM_001012426.2(FOXP4):c.-17+129G>C	FOXP4, FOXP4-AS1 +1 more	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431102	NM_001012426.2(FOXP4):c.-17+229T>C	FOXP4, FOXP4-AS1 +1 more	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431101	NM_024832.5(RIN3):c.532+23G>T	RIN3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431100	NM_000743.5(CHRNA3):c.378-230_378-229inv	CHRNA3	Inversion (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431099	NM_024832.5(RIN3):c.532+232A>C	RIN3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431098	NM_001304359.2(MUC5AC):c.211+43T>C	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431097	NM_000455.5(STK11):c.464+322C>T	LOC110006318, STK11	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431096	NM_000264.5(PTCH1):c.584+1366G>A	PTCH1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GLikely benign
Select item 2431095	NM_004465.2(FGF10):c.*1093A>G	FGF10	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	GPathogenic
Select item 2431094	NM_000321.3(RB1):c.380+2T>C	RB1	Single nucleotide variant (splice donor variant)	Lung adenocarcinoma	GPathogenic
Select item 2431093	NM_001012426.2(FOXP4):c.511-214T>C	FOXP4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431092	NM_001304359.2(MUC5AC):c.2093-112C>T	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431091	NM_000546.6(TP53):c.1051A>T (p.Lys351Ter)	TP53 (K192* +3 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome 1 +1 more	GPathogenic
Select item 2431090	NM_000321.3(RB1):c.1389+34G>A	RB1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GBenign
Select item 2431089	NM_000745.4(CHRNA5):c.304-96C>A	CHRNA5	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431088	NM_033274.5(ADAM19):c.1130+67G>T	ADAM19	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431087	NM_001378902.1(ROS1):c.3388G>A (p.Gly1130Arg)	ROS1 (G1130R +2 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GPathogenic
Select item 2431086	NM_000870.7(HTR4):c.26+7221G>A	HTR4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GLikely benign
Select item 2431085	NM_006182.4(DDR2):c.2434-59G>A	DDR2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GBenign
Select item 2431081	NM_000870.7(HTR4):c.1076+211C>A	HTR4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431080	NM_004136.4(IREB2):c.1024-1244T>A	IREB2	Single nucleotide variant (3 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431078	NM_000546.6(TP53):c.1101-313G>A	TP53	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431077	NM_002019.4(FLT1):c.2708-190C>T	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431076	NM_000249.4(MLH1):c.678-234_678-233insAGTG	MLH1	Insertion (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431075	NM_002019.4(FLT1):c.2708-195G>T	FLT1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431074	NM_001243133.2(NLRP3):c.2835-14C>A	NLRP3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431073	NM_203416.4(CD163):c.45T>A (p.Ala15=)	CD163	Single nucleotide variant (synonymous variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431070	NM_001304359.2(MUC5AC):c.7242A>T (p.Ser2414=)	MUC5AC	Single nucleotide variant (synonymous variant)	Lung adenocarcinoma	GLikely benign
Select item 2431069	NM_138554.5(TLR4):c.*455G>A	TLR4	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	GLikely benign
Select item 2431068	NM_001079668.3(NKX2-1):c.*303del	NKX2-1, SFTA3	Deletion (3 prime UTR variant)	Lung adenocarcinoma	GBenign
Select item 2431067	NM_001378902.1(ROS1):c.3430+42C>T	ROS1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GBenign
Select item 2431066	NM_000321.3(RB1):c.1696-7964C>T	RB1	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 1523057	NM_005228.5(EGFR):c.2326C>T (p.Arg776Cys)	EGFR, EGFR-AS1 (R723C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 1350980	NM_000546.6(TP53):c.622G>T (p.Asp208Tyr)	TP53 (D49Y +3 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma +1 more	GConflicting classifications of pathogenicity

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