SMO[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1329844	NM_005631.5(SMO):c.192C>A (p.Cys64Ter)	SMO (C64*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2536085	NM_005631.5(SMO):c.206C>A (p.Pro69His)	SMO (P69H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3237435	NM_005631.5(SMO):c.244G>C (p.Val82Leu)	SMO (V82L)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 3320991	NM_005631.5(SMO):c.300G>C (p.Glu100Asp)	SMO (E100D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675272	NM_005631.5(SMO):c.331+137G>A	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189668	NM_005631.5(SMO):c.332-243G>T	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244213	NM_005631.5(SMO):c.332-56C>T	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217539	NM_005631.5(SMO):c.384C>T (p.Ala128=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2499846	NM_005631.5(SMO):c.385G>A (p.Val129Ile)	SMO (V129I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320425	NM_005631.5(SMO):c.392T>C (p.Met131Thr)	SMO (M131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629014	NM_005631.5(SMO):c.430C>T (p.Arg144Cys)	SMO (R144C)	Single nucleotide variant (missense variant)	SMO-related disorder	GUncertain significance
Select item 135266	NM_005631.5(SMO):c.503G>A (p.Arg168His)	SMO (R168H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3166605	NM_005631.5(SMO):c.512C>G (p.Pro171Arg)	SMO (P171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058273	NM_005631.5(SMO):c.516C>T (p.Asp172=)	SMO	Single nucleotide variant (synonymous variant)	SMO-related disorder	GLikely benign
Select item 135265	NM_005631.5(SMO):c.517C>T (p.Arg173Cys)	SMO (R173C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135267	NM_005631.5(SMO):c.518G>A (p.Arg173His)	SMO (R173H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1317405	NM_005631.5(SMO):c.531del (p.Cys178fs)	SMO (C178fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 813687	NM_005631.5(SMO):c.536C>T (p.Thr179Met)	SMO (T179M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672182	NM_005631.5(SMO):c.537G>A (p.Thr179=)	SMO	Single nucleotide variant (synonymous variant)	Curry-Jones syndrome	GUncertain significance
Select item 1281525	NM_005631.5(SMO):c.538-186AAAG[4]	SMO	Microsatellite (intron variant)	not provided	GBenign
Select item 1192813	NM_005631.5(SMO):c.538-91C>A	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275728	NM_005631.5(SMO):c.538-26C>T	SMO	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1706126	NM_005631.5(SMO):c.538-10dup	SMO	Duplication (intron variant)	not provided	GUncertain significance
Select item 2321955	NM_005631.5(SMO):c.563A>G (p.Asn188Ser)	SMO (N188S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713472	NM_005631.5(SMO):c.582A>G (p.Glu194=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1190378	NM_005631.5(SMO):c.583G>A (p.Val195Met)	SMO (V195M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2579485	NM_005631.5(SMO):c.591G>A (p.Leu197=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2673128	NM_005631.5(SMO):c.596G>A (p.Arg199Gln)	SMO (R199Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317207	NM_005631.5(SMO):c.602A>T (p.Asp201Val)	SMO (D201V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736286	NM_005631.5(SMO):c.621C>T (p.Tyr207=)	SMO	Single nucleotide variant (synonymous variant)	Hamartoma of hypothalamus +3 more	GBenign/Likely benign
Select item 135268	NM_005631.5(SMO):c.672G>T (p.Glu224Asp)	SMO (E224D)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 3166606	NM_005631.5(SMO):c.688A>G (p.Met230Val)	SMO (M230V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704079	NM_005631.5(SMO):c.704C>T (p.Ala235Val)	SMO (A235V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774136	NM_005631.5(SMO):c.717C>T (p.Ala239=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 810199	NM_005631.5(SMO):c.723G>A (p.Thr241=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2256887	NM_005631.5(SMO):c.724G>T (p.Gly242Cys)	SMO (G242C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787868	NM_005631.5(SMO):c.735G>A (p.Thr245=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1268093	NM_005631.5(SMO):c.747+24G>C	SMO	Single nucleotide variant (intron variant)	Hamartoma of hypothalamus +1 more	GBenign
Select item 1199115	NM_005631.5(SMO):c.747+44C>T	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179503	NM_005631.5(SMO):c.747+46T>C	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290719	NM_005631.5(SMO):c.747+72G>A	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 982409	NM_005631.5(SMO):c.754T>C (p.Phe252Leu)	SMO (F252L)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GLikely pathogenic
Select item 2672133	NM_005631.5(SMO):c.771G>A (p.Arg257=)	SMO	Single nucleotide variant (synonymous variant)	Curry-Jones syndrome	GUncertain significance
Select item 975033	NM_005631.5(SMO):c.781C>T (p.Arg261Cys)	SMO (R261C)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GPathogenic
Select item 2266700	NM_005631.5(SMO):c.784T>C (p.Tyr262His)	SMO (Y262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 135269	NM_005631.5(SMO):c.808G>A (p.Val270Ile)	SMO (V270I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2247305	NM_005631.5(SMO):c.818G>T (p.Cys273Phe)	SMO (C273F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320996	NM_005631.5(SMO):c.836T>C (p.Ile279Thr)	SMO (I279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1182603	NM_005631.5(SMO):c.852G>A (p.Gln284=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2496375	NM_005631.5(SMO):c.857T>C (p.Met286Thr)	SMO (M286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632005	NM_005631.5(SMO):c.880G>A (p.Val294Ile)	SMO (V294I)	Single nucleotide variant (missense variant)	SMO-related disorder	GUncertain significance
Select item 2528343	NM_005631.5(SMO):c.887G>A (p.Arg296His)	SMO (R296H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284389	NM_005631.5(SMO):c.901A>G (p.Met301Val)	SMO (M301V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1194850	NM_005631.5(SMO):c.920+68G>A	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221870	NM_005631.5(SMO):c.920+79C>T	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259833	NM_005631.5(SMO):c.921-84T>C	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3237387	NM_005631.5(SMO):c.979G>A (p.Ala327Thr)	SMO (A327T)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 2672101	NM_005631.5(SMO):c.1102C>G (p.Pro368Ala)	SMO (P368A)	Single nucleotide variant (missense variant)	Curry-Jones syndrome	GUncertain significance
Select item 759594	NM_005631.5(SMO):c.1125C>T (p.Ile375=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2247236	NM_005631.5(SMO):c.1132G>A (p.Val378Met)	SMO (V378M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1246274	NM_005631.5(SMO):c.1137G>A (p.Ala379=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3053143	NM_005631.5(SMO):c.1140+7T>C	SMO	Single nucleotide variant (intron variant)	SMO-related disorder	GLikely benign
Select item 446018	NM_005631.5(SMO):c.1140+13G>A	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2272086	NM_005631.5(SMO):c.1141G>A (p.Val381Met)	SMO (V381M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403462	NM_005631.5(SMO):c.1164G>C (p.Gly388=)	SMO	Single nucleotide variant (synonymous variant)	Hamartoma of hypothalamus +2 more	GBenign
Select item 982410	NM_005631.5(SMO):c.1198C>T (p.Arg400Cys)	SMO (R400C)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GLikely pathogenic
Select item 774137	NM_005631.5(SMO):c.1203G>C (p.Ala401=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3368025	NM_005631.5(SMO):c.1210G>C (p.Val404Leu)	SMO (V404L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 245609	NM_005631.5(SMO):c.1234C>T (p.Leu412Phe)	SMO (L412F)	Single nucleotide variant (missense variant)	Curry-Jones syndrome	GPathogenic
Select item 2488878	NM_005631.5(SMO):c.1240G>A (p.Val414Met)	SMO (V414M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 383189	NM_005631.5(SMO):c.1248C>G (p.Gly416=)	SMO	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1710822	NM_005631.5(SMO):c.1255C>T (p.Leu419Phe)	SMO (L419F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3166599	NM_005631.5(SMO):c.1262G>A (p.Arg421Gln)	SMO (R421Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1281387	NM_005631.5(SMO):c.1264+41A>G	SMO	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1277300	NM_005631.5(SMO):c.1264+130_1264+131dup	SMO	Duplication (intron variant)	not provided	GBenign
Select item 1321720	NM_005631.5(SMO):c.1264+168G>A	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194860	NM_005631.5(SMO):c.1264+243C>T	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235756	NM_005631.5(SMO):c.1264+259del	SMO	Deletion (intron variant)	not provided	GBenign
Select item 1238587	NM_005631.5(SMO):c.1264+288A>G	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208087	NM_005631.5(SMO):c.1265-209C>T	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174289	NM_005631.5(SMO):c.1265-208C>T	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 975037	NM_005631.5(SMO):c.1285A>T (p.Ile429Phe)	SMO (I429F)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GPathogenic
Select item 778354	NM_005631.5(SMO):c.1317G>A (p.Glu439=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 975034	NM_005631.5(SMO):c.1339G>T (p.Glu447Ter)	SMO (E447*)	Single nucleotide variant (nonsense)	Hamartoma of hypothalamus	GPathogenic
Select item 1321592	NM_005631.5(SMO):c.1357+12C>T	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2672174	NM_005631.5(SMO):c.1358-3C>T	SMO	Single nucleotide variant (intron variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 2495867	NM_005631.5(SMO):c.1405T>C (p.Cys469Arg)	SMO (C469R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375938	NM_005631.5(SMO):c.1417G>C (p.Asp473His)	SMO (D473H)	Single nucleotide variant (missense variant)	Basal cell carcinoma +1 more	GPathogenic
Select item 135270	NM_005631.5(SMO):c.1417G>A (p.Asp473Asn)	SMO (D473N)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 3166601	NM_005631.5(SMO):c.1462G>A (p.Val488Met)	SMO (V488M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1230344	NM_005631.5(SMO):c.1467-270G>C	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272576	NM_005631.5(SMO):c.1467-120T>G	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209368	NM_005631.5(SMO):c.1467-44G>A	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290153	NM_005631.5(SMO):c.1467-37A>G	SMO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3348862	NM_005631.5(SMO):c.1467-6C>T	SMO	Single nucleotide variant (intron variant)	SMO-related disorder	GLikely benign
Select item 8117	NM_005631.5(SMO):c.1604G>T (p.Trp535Leu)	SMO (W535L)	Single nucleotide variant (missense variant)	Basal cell carcinoma, somatic	GPathogenic
Select item 1319864	NM_005631.5(SMO):c.1684C>T (p.Arg562Trp)	SMO (R562W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8118	NM_005631.5(SMO):c.1685G>A (p.Arg562Gln)	SMO (R562Q)	Single nucleotide variant (missense variant)	Basal cell carcinoma, somatic	GPathogenic
Select item 1179692	NM_005631.5(SMO):c.1722T>C (p.Ser574=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 975036	NM_005631.5(SMO):c.1726C>T (p.Arg576Trp)	SMO (R576W)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GPathogenic

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