ClinVar for Gene (Select 3479) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235696	GRCh37/hg19 12q23.2(chr12:102771260-103025475)x1	IGF1	Copy number loss	Growth delay due to insulin-like growth factor type 1 deficiency	GPathogenic
Select item 3234493	NM_000618.5(IGF1):c.315G>T (p.Leu105=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038757	NM_000618.5(IGF1):c.261_262dup	IGF1, LINC02456	Duplication (3 prime UTR variant)	IGF1-related disorder	GLikely benign
Select item 3016913	NM_000618.5(IGF1):c.141G>A (p.Thr47=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987297	NM_000618.5(IGF1):c.63+13T>A	IGF1, LINC02456	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685452	GRCh37/hg19 12q23.2(chr12:102803130-102959898)x1	IGF1	Copy number loss	not provided	GUncertain significance
Select item 2663117	NM_000618.5(IGF1):c.209G>A (p.Gly70Asp)	IGF1, LINC02456 (G54D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643245	NM_000618.5(IGF1):c.135T>A (p.Ser45=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623784	NM_000618.5(IGF1):c.376C>A (p.His126Asn)	IGF1, LINC02456 (H110N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505718	NM_000618.5(IGF1):c.352G>C (p.Ala118Pro)	IGF1, LINC02456 (A102P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501580	NM_000618.5(IGF1):c.103del (p.Leu35fs)	LINC02456, IGF1 (L19fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2456529	NM_000618.5(IGF1):c.356G>A (p.Arg119His)	IGF1, LINC02456 (R103H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381884	NM_000618.5(IGF1):c.19C>T (p.Leu7Phe)	IGF1, LINC02456 (L7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178898	NM_000618.5(IGF1):c.258G>A (p.Ala86=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106637	NM_000618.5(IGF1):c.65T>A (p.Val22Glu)	IGF1, LINC02456 (V6E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097941	NM_000618.5(IGF1):c.245G>A (p.Ser82Asn)	IGF1, LINC02456 (S66N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968226	NM_000618.5(IGF1):c.63+5A>G	IGF1, LINC02456	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1960491	NM_000618.5(IGF1):c.133T>C (p.Ser45Pro)	IGF1, LINC02456 (S29P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902472	NM_000618.5(IGF1):c.273C>T (p.Ile91=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878955	NM_000618.5(IGF1):c.316G>A (p.Glu106Lys)	IGF1, LINC02456 (E106K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803898	NM_000618.5(IGF1):c.320T>G (p.Met107Arg)	IGF1, LINC02456 (M107R +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 1674648	NM_000618.5(IGF1):c.162C>T (p.Cys54=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617492	NM_000618.5(IGF1):c.324T>C (p.Tyr108=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554632	NM_000618.5(IGF1):c.108G>A (p.Ala36=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554285	NM_000618.5(IGF1):c.381C>T (p.Thr127=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 1498408	NM_000618.5(IGF1):c.344C>T (p.Ala115Val)	IGF1, LINC02456 (A99V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477880	NM_000618.5(IGF1):c.431_434del (p.Gly144fs)	IGF1, LINC02456 (G144fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1455141	NC_000012.11:g.(?_102813267)_(102874159_?)del	IGF1	Deletion	not provided	GPathogenic
Select item 1430976	NM_000618.5(IGF1):c.402G>A (p.Lys134=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1407324	NM_000618.5(IGF1):c.251G>A (p.Arg84Gln)	IGF1, LINC02456 (R84Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402693	NM_000618.5(IGF1):c.257C>T (p.Ala86Val)	IGF1, LINC02456 (A70V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357984	NM_000618.5(IGF1):c.34_37del (p.Phe12fs)	IGF1, LINC02456 (F12fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1346126	NM_000618.5(IGF1):c.16A>T (p.Ser6Cys)	IGF1, LINC02456 (S6C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345538	NM_000618.5(IGF1):c.293G>A (p.Arg98Gln)	IGF1, LINC02456 (R98Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309971	NM_000618.5(IGF1):c.162C>G (p.Cys54Trp)	IGF1, LINC02456 (C38W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050050	NM_000618.5(IGF1):c.380C>T (p.Thr127Ile)	IGF1, LINC02456 (T111I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031643	NM_000618.5(IGF1):c.421G>T (p.Ala141Ser)	IGF1, LINC02456 (A141S +2 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 975245	NM_000618.5(IGF1):c.447G>C (p.Lys149Asn)	IGF1, LINC02456 (K133N +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 883905	NM_000618.5(IGF1):c.384C>T (p.Asp128=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 883904	NM_000618.5(IGF1):c.*23G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883903	NM_000618.5(IGF1):c.*259A>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 883833	NM_000618.5(IGF1):c.*1718T>G	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883832	NM_000618.5(IGF1):c.*1849G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883831	NM_000618.5(IGF1):c.*1940T>C	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883830	NM_000618.5(IGF1):c.*2006C>T	LINC02456, IGF1	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883780	NM_000618.5(IGF1):c.*3800G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883779	NM_000618.5(IGF1):c.*3890G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883778	NM_000618.5(IGF1):c.*3971A>G	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GBenign
Select item 883777	NM_000618.5(IGF1):c.*4007G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883726	NM_000618.5(IGF1):c.*5289T>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883725	NM_000618.5(IGF1):c.*5332G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883724	NM_000618.5(IGF1):c.*5538C>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883128	NM_000618.5(IGF1):c.*260A>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883127	NM_000618.5(IGF1):c.*306A>G	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GBenign
Select item 883126	NM_000618.5(IGF1):c.*447G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883125	NM_000618.5(IGF1):c.*550C>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883055	NM_000618.5(IGF1):c.*2047C>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883054	NM_000618.5(IGF1):c.*2047C>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883053	NM_000618.5(IGF1):c.*2197A>G	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883052	NM_000618.5(IGF1):c.*2212G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 883051	NM_000618.5(IGF1):c.*2241C>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 882981	NM_000618.5(IGF1):c.*4009G>A	LINC02456, IGF1	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GBenign
Select item 882980	NM_000618.5(IGF1):c.*4409T>G	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 882979	NM_000618.5(IGF1):c.*4410T>G	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency +1 more	GLikely benign
Select item 882929	NM_000618.5(IGF1):c.*5670C>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 882928	NM_000618.5(IGF1):c.*5930A>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 882927	NM_000618.5(IGF1):c.*5991C>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881951	NM_000618.5(IGF1):c.*662C>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881950	NM_000618.5(IGF1):c.*771T>C	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GBenign
Select item 881949	NM_000618.5(IGF1):c.*780G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881948	NM_000618.5(IGF1):c.*784A>C	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GLikely benign
Select item 881947	NM_000618.5(IGF1):c.*954G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881946	NM_000618.5(IGF1):c.*1054G>C	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881877	NM_000618.5(IGF1):c.*2820A>G	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881876	NM_000618.5(IGF1):c.*2908T>C	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881829	NM_000618.5(IGF1):c.*4488T>A	LINC02456, IGF1	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881828	NM_000618.5(IGF1):c.*4519T>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881827	NM_000618.5(IGF1):c.*4739C>T	LINC02456, IGF1	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GLikely benign
Select item 881780	NM_000618.5(IGF1):c.*6311T>C	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GBenign
Select item 881779	NM_000618.5(IGF1):c.*6583A>G	LINC02456, IGF1	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881444	NM_000618.5(IGF1):c.*2968C>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881385	NM_000618.5(IGF1):c.*4758G>C	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881384	NM_000618.5(IGF1):c.*5164C>T	LINC02456, IGF1	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 881383	NM_000618.5(IGF1):c.*5202T>G	LINC02456, IGF1	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GBenign
Select item 880617	NM_000618.5(IGF1):c.45C>G (p.Cys15Trp)	IGF1, LINC02456 (C15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 880616	NM_000618.5(IGF1):c.90G>A (p.Ser30=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	IGF1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 880615	NM_000618.5(IGF1):c.150G>A (p.Pro50=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 880537	NM_000618.5(IGF1):c.*1157G>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 880536	NM_000618.5(IGF1):c.*1204C>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 880535	NM_000618.5(IGF1):c.*1398C>T	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 880534	NM_000618.5(IGF1):c.*1489T>C	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 880533	NM_000618.5(IGF1):c.*1643G>A	IGF1, LINC02456	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GUncertain significance
Select item 829837	NM_000618.5(IGF1):c.285C>A (p.Cys95Ter)	IGF1, LINC02456 (C95* +1 more)	Single nucleotide variant (nonsense)	Growth delay due to insulin-like growth factor type 1 deficiency	GLikely pathogenic
Select item 816823	NM_000618.5(IGF1):c.156dup (p.Leu53fs)	IGF1, LINC02456 (L37fs +1 more)	Duplication (frameshift variant)	Growth delay due to insulin-like growth factor type 1 deficiency	GLikely pathogenic
Select item 813625	NM_000618.5(IGF1):c.401A>G (p.Lys134Arg)	IGF1, LINC02456 (K118R +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 790123	NM_000618.5(IGF1):c.462G>A (p.Ter154=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 776740	NM_000618.5(IGF1):c.343G>A (p.Ala115Thr)	IGF1, LINC02456 (A115T +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor type 1 deficiency +1 more	GBenign
Select item 740529	NM_000618.5(IGF1):c.297C>T (p.Ser99=)	IGF1, LINC02456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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