"GeneDx"[submitter] AND "SMO"[gene] - ClinVar

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Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 1208694	NM_005631.5(SMO):c.-415G>T	LOC129999302, SMO	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1207639	NM_005631.5(SMO):c.-35G>T	LOC129999303, SMO	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 769335	NM_005631.5(SMO):c.49CTG[8] (p.Leu23dup)	LOC129999303, SMO	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 768202	NM_005631.5(SMO):c.74A>G (p.Asp25Gly)	LOC129999303, SMO (D25G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3367779	NM_005631.5(SMO):c.82_99del (p.Arg28_Ser33del)	LOC129999303, SMO	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 982248	NM_005631.5(SMO):c.160G>A (p.Val54Met)	LOC129999303, SMO (V54M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1329844	NM_005631.5(SMO):c.192C>A (p.Cys64Ter)	SMO (C64*)	Single nucleotide variant (nonsense)	not provided	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 1317405	NM_005631.5(SMO):c.531del (p.Cys178fs)	SMO (C178fs)	Deletion (frameshift variant)	not provided	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 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 1317207	NM_005631.5(SMO):c.602A>T (p.Asp201Val)	SMO (D201V)	Single nucleotide variant (missense variant)	not provided	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 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 3376038	NM_005631.5(SMO):c.833G>A (p.Ser278Asn)	SMO (S278N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372254	NM_005631.5(SMO):c.845_848del (p.Leu282fs)	SMO (L282fs)	Microsatellite (frameshift variant)	not provided	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 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 1246274	NM_005631.5(SMO):c.1137G>A (p.Ala379=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 446018	NM_005631.5(SMO):c.1140+13G>A	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 1321592	NM_005631.5(SMO):c.1357+12C>T	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1179692	NM_005631.5(SMO):c.1722T>C (p.Ser574=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3372820	NM_005631.5(SMO):c.1793G>T (p.Gly598Val)	SMO (G598V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187049	NM_005631.5(SMO):c.1801+23C>T	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3342474	NM_005631.5(SMO):c.1801+52T>A	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218295	NM_005631.5(SMO):c.1801+100C>T	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199684	NM_005631.5(SMO):c.1801+118C>A	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214181	NM_005631.5(SMO):c.1801+201del	SMO	Deletion (intron variant)	not provided	GLikely benign
Select item 3253196	NM_005631.5(SMO):c.1900C>T (p.Pro634Ser)	SMO (P634S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135574	NM_005631.5(SMO):c.1921C>G (p.Pro641Ala)	SMO (P641A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321580	NM_005631.5(SMO):c.1937-59G>C	SMO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203999	NM_005631.5(SMO):c.2052G>A (p.Pro684=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 135260	NM_005631.5(SMO):c.2093C>G (p.Pro698Arg)	SMO (P698R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2443394	NM_005631.5(SMO):c.2126G>A (p.Arg709Gln)	SMO (R709Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 778364	NM_005631.5(SMO):c.2259G>A (p.Pro753=)	SMO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1270793	NM_005631.5(SMO):c.*89C>T	SMO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1214323	NM_005631.5(SMO):c.*219G>A	SMO	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3359973	NM_005631.5(SMO):c.2258C>T (p.Pro753Leu)	SMO (P753L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 73