16466[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 1211170	NC_000010.11:g.102503825C>A	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1238552	NC_000010.11:g.102503867T>G	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1196268	NC_000010.11:g.102503873G>A	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 677127	NM_016169.3(SUFU):c.-235T>C	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 878699	NM_016169.3(SUFU):c.-202C>T	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	Medulloblastoma	GUncertain significance
Select item 878700	NM_016169.3(SUFU):c.-189C>T	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	Medulloblastoma	GUncertain significance
Select item 298563	NM_016169.4(SUFU):c.-181A>G	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298564	NM_016169.4(SUFU):c.-178C>T	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 298565	NM_016169.4(SUFU):c.-163A>G	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298566	NM_016169.4(SUFU):c.-103C>A	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298568	NM_016169.4(SUFU):c.-81C>T	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298567	NM_016169.4(SUFU):c.-81C>A	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Medulloblastoma	GUncertain significance
Select item 298569	NM_016169.4(SUFU):c.-33C>T	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 646409	NC_000010.11:g.(?_102504143)_(102550116_?)del	LOC124416895, LOC130004614 +3 more	Deletion	Gorlin syndrome +1 more	GPathogenic
Select item 824480	NM_016169.4(SUFU):c.-3C>T	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2447186	NM_016169.4(SUFU):c.-2C>G	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566871	NM_016169.4(SUFU):c.2T>A (p.Met1Lys)	LOC130004614, SUFU (M1K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 666154	NM_016169.4(SUFU):c.5C>T (p.Ala2Val)	LOC130004614, SUFU (A2V)	Single nucleotide variant (missense variant)	Medulloblastoma +1 more	GUncertain significance
Select item 513523	NM_016169.4(SUFU):c.6G>A (p.Ala2=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +3 more	GLikely benign
Select item 241088	NM_016169.4(SUFU):c.6G>T (p.Ala2=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 573218	NM_016169.4(SUFU):c.8A>G (p.Glu3Gly)	LOC130004614, SUFU (E3G)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 453986	NM_016169.4(SUFU):c.9G>A (p.Glu3=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1747226	NM_016169.4(SUFU):c.11T>G (p.Leu4Arg)	LOC130004614, SUFU (L4R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2935882	NM_016169.4(SUFU):c.14_33del (p.Arg5fs)	LOC130004614, SUFU (R5fs)	Deletion (frameshift variant)	Gorlin syndrome +1 more	GPathogenic
Select item 241081	NM_016169.4(SUFU):c.12G>A (p.Leu4=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +4 more	GBenign/Likely benign
Select item 956096	NM_016169.4(SUFU):c.13C>T (p.Arg5Trp)	LOC130004614, SUFU (R5W)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 1118438	NM_016169.4(SUFU):c.15G>A (p.Arg5=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1024959	NM_016169.4(SUFU):c.16C>T (p.Pro6Ser)	LOC130004614, SUFU (P6S)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 1054599	NM_016169.4(SUFU):c.17C>G (p.Pro6Arg)	LOC130004614, SUFU (P6R)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 3226874	NM_016169.4(SUFU):c.18T>C (p.Pro6=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1782297	NM_016169.4(SUFU):c.18T>G (p.Pro6=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1369018	NM_016169.4(SUFU):c.19A>G (p.Ser7Gly)	LOC130004614, SUFU (S7G)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 3226875	NM_016169.4(SUFU):c.22_38del (p.Gly8fs)	LOC130004614, SUFU (G8fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2009618	NM_016169.4(SUFU):c.21C>G (p.Ser7Arg)	LOC130004614, SUFU (S7R)	Single nucleotide variant (missense variant)	Medulloblastoma +1 more	GUncertain significance
Select item 1380808	NM_016169.4(SUFU):c.21C>A (p.Ser7Arg)	LOC130004614, SUFU (S7R)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 1455211	NM_016169.4(SUFU):c.37_53dup (p.Gly19fs)	LOC130004614, SUFU (G19fs)	Duplication (frameshift variant)	Medulloblastoma +2 more	GPathogenic
Select item 568531	NM_016169.4(SUFU):c.22G>T (p.Gly8Cys)	LOC130004614, SUFU (G8C)	Single nucleotide variant (missense variant)	Medulloblastoma +1 more	GUncertain significance
Select item 1072595	NM_016169.4(SUFU):c.37_53del (p.Thr13fs)	SUFU, LOC130004614 (T13fs)	Deletion (frameshift variant)	Medulloblastoma +1 more	GPathogenic
Select item 3226877	NM_016169.4(SUFU):c.24C>T (p.Gly8=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 947067	NM_016169.4(SUFU):c.26C>A (p.Ala9Asp)	LOC130004614, SUFU (A9D)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 524666	NM_016169.4(SUFU):c.26C>T (p.Ala9Val)	LOC130004614, SUFU (A9V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2586924	NM_016169.4(SUFU):c.27C>T (p.Ala9=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1126585	NM_016169.4(SUFU):c.27C>A (p.Ala9=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2944110	NM_016169.4(SUFU):c.28C>G (p.Pro10Ala)	LOC130004614, SUFU (P10A)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 1055361	NM_016169.4(SUFU):c.28C>T (p.Pro10Ser)	LOC130004614, SUFU (P10S)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 1109540	NM_016169.4(SUFU):c.30C>T (p.Pro10=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GLikely benign
Select item 2939845	NM_016169.4(SUFU):c.31G>A (p.Gly11Ser)	LOC130004614, SUFU (G11S)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 1319742	NM_016169.4(SUFU):c.31G>C (p.Gly11Arg)	LOC130004614, SUFU (G11R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2586928	NM_016169.4(SUFU):c.32G>T (p.Gly11Val)	LOC130004614, SUFU (G11V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 582859	NM_016169.4(SUFU):c.32G>A (p.Gly11Asp)	LOC130004614, SUFU (G11D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1647256	NM_016169.4(SUFU):c.33C>T (p.Gly11=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2921792	NM_016169.4(SUFU):c.34C>T (p.Pro12Ser)	LOC130004614, SUFU (P12S)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2436522	NM_016169.4(SUFU):c.34C>A (p.Pro12Thr)	LOC130004614, SUFU (P12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3226880	NM_016169.4(SUFU):c.35C>G (p.Pro12Arg)	LOC130004614, SUFU (P12R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1733067	NM_016169.4(SUFU):c.35C>A (p.Pro12His)	LOC130004614, SUFU (P12H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566882	NM_016169.4(SUFU):c.36C>T (p.Pro12=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1575300	NM_016169.4(SUFU):c.36C>G (p.Pro12=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2452608	NM_016169.4(SUFU):c.37A>G (p.Thr13Ala)	SUFU, LOC130004614 (T13A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1735036	NM_016169.4(SUFU):c.37A>T (p.Thr13Ser)	LOC130004614, SUFU (T13S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 802631	NM_016169.4(SUFU):c.37A>C (p.Thr13Pro)	LOC130004614, SUFU (T13P)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 802630	NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del)	LOC130004614, SUFU	Deletion (inframe_deletion)	Gorlin syndrome +1 more	GUncertain significance
Select item 1522672	NM_016169.4(SUFU):c.38C>G (p.Thr13Ser)	LOC130004614, SUFU (T13S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 824354	NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)	SUFU, LOC130004614 (T13I)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GUncertain significance
Select item 1736863	NM_016169.4(SUFU):c.39C>T (p.Thr13=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2562341	NM_016169.4(SUFU):c.40G>A (p.Ala14Thr)	LOC130004614, SUFU (A14T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1469387	NM_016169.4(SUFU):c.42_65del (p.10PGPTAPPA[1])	LOC130004614, SUFU	Deletion (inframe_deletion)	Gorlin syndrome +1 more	GUncertain significance
Select item 1739545	NM_016169.4(SUFU):c.42G>C (p.Ala14=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1596073	NM_016169.4(SUFU):c.42G>A (p.Ala14=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +1 more	GLikely benign
Select item 1740310	NM_016169.4(SUFU):c.43C>T (p.Pro15Ser)	LOC130004614, SUFU (P15S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1057293	NM_016169.4(SUFU):c.43C>G (p.Pro15Ala)	LOC130004614, SUFU (P15A)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 835932	NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1])	LOC130004614, SUFU	Deletion (inframe_deletion)	Gorlin syndrome +2 more	GUncertain significance
Select item 453965	NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)	LOC130004614, SUFU (P15T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 3569	NM_016169.4(SUFU):c.44C>T (p.Pro15Leu)	LOC130004614, SUFU (P15L)	Single nucleotide variant (missense variant)	Medulloblastoma	GPathogenic
Select item 1741782	NM_016169.4(SUFU):c.45C>A (p.Pro15=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1103982	NM_016169.4(SUFU):c.45C>T (p.Pro15=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2055680	NM_016169.4(SUFU):c.46C>G (p.Pro16Ala)	LOC130004614, SUFU (P16A)	Single nucleotide variant (missense variant)	Medulloblastoma +1 more	GUncertain significance
Select item 940909	NM_016169.4(SUFU):c.46C>A (p.Pro16Thr)	LOC130004614, SUFU (P16T)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GUncertain significance
Select item 1931632	NM_016169.4(SUFU):c.47C>T (p.Pro16Leu)	LOC130004614, SUFU (P16L)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 1743972	NM_016169.4(SUFU):c.48G>C (p.Pro16=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1545989	NM_016169.4(SUFU):c.48G>T (p.Pro16=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GLikely benign
Select item 1373805	NM_016169.4(SUFU):c.53_59del (p.Pro18fs)	LOC130004614, SUFU (P18fs)	Deletion (frameshift variant)	Gorlin syndrome +1 more	GPathogenic
Select item 1744670	NM_016169.4(SUFU):c.49G>C (p.Ala17Pro)	LOC130004614, SUFU (A17P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226888	NM_016169.4(SUFU):c.50C>G (p.Ala17Gly)	LOC130004614, SUFU (A17G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1431589	NM_016169.4(SUFU):c.53del (p.Pro18fs)	LOC130004614, SUFU (P18fs)	Deletion (frameshift variant)	Gorlin syndrome +1 more	GPathogenic
Select item 413907	NM_016169.4(SUFU):c.50C>T (p.Ala17Val)	LOC130004614, SUFU (A17V)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GConflicting classifications of pathogenicity
Select item 2624837	NM_016169.4(SUFU):c.51C>T (p.Ala17=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2452616	NM_016169.4(SUFU):c.52C>G (p.Pro18Ala)	LOC130004614, SUFU (P18A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1715204	NM_016169.4(SUFU):c.52C>A (p.Pro18Thr)	LOC130004614, SUFU (P18T)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2447184	NM_016169.4(SUFU):c.53C>T (p.Pro18Leu)	LOC130004614, SUFU (P18L)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 1402570	NM_016169.4(SUFU):c.53C>G (p.Pro18Arg)	LOC130004614, SUFU (P18R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2928291	NM_016169.4(SUFU):c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro)	LOC130004614, SUFU	Duplication (inframe_insertion)	Gorlin syndrome +1 more	GUncertain significance
Select item 1747970	NM_016169.4(SUFU):c.54T>A (p.Pro18=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1104903	NM_016169.4(SUFU):c.54T>C (p.Pro18=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GLikely benign
Select item 524665	NM_016169.4(SUFU):c.55G>A (p.Gly19Ser)	LOC130004614, SUFU (G19S)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 2679094	NM_016169.4(SUFU):c.56G>T (p.Gly19Val)	LOC130004614, SUFU (G19V)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance

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