2271[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2118

<< First< Prev

Page of 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 153226	GRCh38/hg38 1q43(chr1:239288025-242458053)x1	BECN2, CHML +35 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 57847	GRCh38/hg38 1q43(chr1:239631841-242609012)x3	BECN2, CHML +35 more	Copy number gain	See cases	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 57848	GRCh38/hg38 1q43(chr1:240553438-242475553)x3	BECN2, CHML +29 more	Copy number gain	See cases	GUncertain significance
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 57849	GRCh38/hg38 1q43(chr1:241358731-241676967)x3	CHML, FH +5 more	Copy number gain	See cases	GUncertain significance
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 1252989	NC_000001.11:g.241497346CA[7]	FH	Microsatellite	not provided	GBenign
Select item 1333069	NC_000001.11:g.241497360C>T	FH	Single nucleotide variant	not provided	GLikely benign
Select item 1327716	NC_000001.11:g.241497425T>C	FH	Single nucleotide variant	not provided	GLikely benign
Select item 417362	NC_000001.11:g.(?_241497557)_(241504245_?)del	FH	Deletion	Fumarase deficiency	GPathogenic
Select item 417361	NC_000001.11:g.(?_241497557)_(241519785_?)del	FH, LOC129932888	Deletion	Fumarase deficiency	GPathogenic
Select item 296857	NM_000143.3(FH):c.*266A>G	FH	Single nucleotide variant	Hereditary leiomyomatosis and renal cell cancer +1 more	GConflicting classifications of pathogenicity
Select item 296858	NM_000143.4(FH):c.221_222del	FH	Deletion (3 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GBenign/Likely benign
Select item 877068	NM_000143.4(FH):c.*211G>C	FH	Single nucleotide variant (3 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GUncertain significance
Select item 296859	NM_000143.4(FH):c.*102T>C	FH	Single nucleotide variant (3 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GConflicting classifications of pathogenicity
Select item 296860	NM_000143.4(FH):c.*92G>T	FH	Single nucleotide variant (3 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GUncertain significance
Select item 1697870	NM_000143.4(FH):c.*36A>G	FH	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2575502	NM_000143.4(FH):c.*14A>G	FH	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 665629	NC_000001.11:g.(?_241497818)_(241519732_?)del	FH, LOC129932888	Deletion	Fumarase deficiency	GPathogenic
Select item 662851	NC_000001.11:g.(?_241497818)_(241508795_?)del	FH	Deletion	not provided	GPathogenic
Select item 647960	NC_000001.11:g.(?_241497818)_(241504255_?)del	FH	Deletion	Fumarase deficiency	GPathogenic
Select item 583810	NC_000001.10:g.(?_241661118)_(241683032_?)dup	FH, LOC129932888	Duplication	Fumarase deficiency	GUncertain significance
Select item 460333	NC_000001.10:g.(?_241661122)_(241683028_?)dup	FH, LOC129932888	Duplication	Fumarase deficiency	GUncertain significance
Select item 1293664	NM_000143.4(FH):c.*5C>T	FH	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2692191	NM_000143.4(FH):c.*2T>C	FH	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3230441	NM_000143.4(FH):c.1533A>C (p.Ter511Cys)	FH	Single nucleotide variant (stop lost)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1057613	NM_000143.4(FH):c.1532G>C (p.Ter511Ser)	FH	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1692241	NM_000143.4(FH):c.1531T>A (p.Ter511Arg)	FH	Single nucleotide variant (stop lost)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1309061	NM_000143.4(FH):c.1529A>G (p.Lys510Arg)	FH (K510R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2141444	NM_000143.4(FH):c.1528A>G (p.Lys510Glu)	FH (K510E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373798	NM_000143.4(FH):c.1528A>C (p.Lys510Gln)	FH (K510Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 480775	NM_000143.4(FH):c.1526C>T (p.Pro509Leu)	FH (P509L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2835974	NM_000143.4(FH):c.1524T>G (p.Gly508=)	FH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055886	NM_000143.4(FH):c.1523G>A (p.Gly508Asp)	FH (G508D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2567075	NM_000143.4(FH):c.1522G>A (p.Gly508Ser)	FH (G508S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1502257	NM_000143.4(FH):c.1522G>T (p.Gly508Cys)	FH (G508C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 947513	NM_000143.4(FH):c.1522G>C (p.Gly508Arg)	FH (G508R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1774367	NM_000143.4(FH):c.1519_1521del (p.Leu507del)	FH (L507del)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1105369	NM_000143.4(FH):c.1521G>A (p.Leu507=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2842821	NM_000143.4(FH):c.1520T>A (p.Leu507Gln)	FH (L507Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 501651	NM_000143.4(FH):c.1520T>C (p.Leu507Pro)	FH (L507P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2195102	NM_000143.4(FH):c.1518G>T (p.Met506Ile)	FH (M506I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352905	NM_000143.4(FH):c.1518G>A (p.Met506Ile)	FH (M506I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3278731	NM_000143.4(FH):c.1517T>C (p.Met506Thr)	FH (M506T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1803713	NM_000143.4(FH):c.1517T>G (p.Met506Arg)	FH (M506R)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 1021540	NM_000143.4(FH):c.1516A>G (p.Met506Val)	FH (M506V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754360	NM_000143.4(FH):c.1512G>A (p.Lys504=)	FH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 405910	NM_000143.4(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup)	FH	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1042485	NM_000143.4(FH):c.1508C>G (p.Pro503Arg)	FH (P503R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 279808	NM_000143.4(FH):c.1506dup (p.Pro503fs)	FH (P503fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 819411	NM_000143.4(FH):c.1506A>G (p.Lys502=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2020523	NM_000143.4(FH):c.1504A>G (p.Lys502Glu)	FH (K502E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 529832	NM_000143.4(FH):c.1503A>G (p.Val501=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1026013	NM_000143.4(FH):c.1501G>A (p.Val501Ile)	FH (V501I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1774015	NM_000143.4(FH):c.1500G>C (p.Trp500Cys)	FH (W500C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 265151	NM_000143.4(FH):c.1500G>A (p.Trp500Ter)	FH (W500*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 3278752	NM_000143.4(FH):c.1499G>C (p.Trp500Ser)	FH (W500S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1076641	NM_000143.4(FH):c.1499G>A (p.Trp500Ter)	FH (W500*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2087849	NM_000143.4(FH):c.1498T>C (p.Trp500Arg)	FH (W500R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1010275	NM_000143.4(FH):c.1497del (p.Glu499fs)	FH (E499fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2855397	NM_000143.4(FH):c.1495G>T (p.Glu499Ter)	FH (E499*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 819323	NM_000143.4(FH):c.1495G>A (p.Glu499Lys)	FH (E499K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3278715	NM_000143.4(FH):c.1494C>G (p.Asp498Glu)	FH (D498E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1596396	NM_000143.4(FH):c.1494C>T (p.Asp498=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2675685	NM_000143.4(FH):c.1493A>G (p.Asp498Gly)	FH (D498G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2755789	NM_000143.4(FH):c.1491T>C (p.Phe497=)	FH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390905	NM_000143.4(FH):c.1489T>C (p.Phe497Leu)	FH (F497L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 405937	NM_000143.4(FH):c.1484_1488del (p.Glu495fs)	FH (E495fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 449792	NM_000143.4(FH):c.1486C>T (p.Gln496Ter)	FH (Q496*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2777023	NM_000143.4(FH):c.1485G>A (p.Glu495=)	FH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518517	NM_000143.4(FH):c.1484A>G (p.Glu495Gly)	FH (E495G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2675686	NM_000143.4(FH):c.1483G>T (p.Glu495Ter)	FH (E495*)	Single nucleotide variant (nonsense)	Fumarase deficiency	GLikely pathogenic
Select item 1773599	NM_000143.4(FH):c.1482del (p.Glu495fs)	FH (E495fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic

<< First< Prev

Page of 22