6608[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
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 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 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 3166600	NM_005631.5(SMO):c.13C>T (p.Arg5Cys)	LOC129999303, SMO (R5C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320411	NM_005631.5(SMO):c.14G>C (p.Arg5Pro)	LOC129999303, SMO (R5P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444000	NM_005631.5(SMO):c.43C>G (p.Leu15Val)	LOC129999303, SMO (L15V)	Single nucleotide variant (missense variant)	See cases	GBenign
Select item 769335	NM_005631.5(SMO):c.49CTG[8] (p.Leu23dup)	LOC129999303, SMO	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1049166	NM_005631.5(SMO):c.50_51insCCT (p.Leu23dup)	LOC129999303, SMO	Insertion (inframe_insertion)	not provided	GUncertain significance
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 135258	NM_005631.5(SMO):c.99C>G (p.Ser33Arg)	LOC129999303, SMO (S33R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2534611	NM_005631.5(SMO):c.112G>T (p.Gly38Trp)	LOC129999303, SMO (G38W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2672141	NM_005631.5(SMO):c.173C>T (p.Pro58Leu)	LOC129999303, SMO (P58L)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 2597130	NM_005631.5(SMO):c.176C>A (p.Pro59Gln)	LOC129999303, SMO (P59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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)	Curry-Jones syndrome +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 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

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