INTS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	AMZ1, ADAP1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC129997784, LOC129997785 +245 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 149269	GRCh38/hg38 7p22.3(chr7:689554-2031521)x3	ADAP1, C7orf50 +117 more	Copy number gain	See cases	GUncertain significance
Select item 147514	GRCh38/hg38 7p22.3(chr7:791215-1993065)x3	ADAP1, C7orf50 +105 more	Copy number gain	See cases	GUncertain significance
Select item 148752	GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4	LOC129997808, LOC129997809 +116 more	Copy number gain	See cases	GUncertain significance
Select item 147494	GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1	CHST12, EIF3B +99 more	Copy number loss	See cases	GUncertain significance
Select item 2430428	NM_001080453.3(INTS1):c.6568A>C (p.Met2190Leu)	INTS1 (M1029L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2277337	NM_001080453.3(INTS1):c.6554_6564delinsCGTGATGTGAGCCT (p.His2185_Ala2188delinsProTer)	INTS1	Indel (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272313	NM_001080453.3(INTS1):c.6562G>C (p.Ala2188Pro)	INTS1 (A1027P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400429	NM_001080453.3(INTS1):c.6556A>G (p.Met2186Val)	INTS1 (M1025V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695545	NM_001080453.3(INTS1):c.6523G>A (p.Ala2175Thr)	INTS1 (A2175T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2396959	NM_001080453.3(INTS1):c.6505G>A (p.Gly2169Ser)	INTS1 (G1008S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691135	NM_001080453.3(INTS1):c.6499A>G (p.Met2167Val)	INTS1 (M2167V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439960	NM_001080453.3(INTS1):c.6464C>T (p.Ala2155Val)	INTS1 (A2155V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323983	NM_001080453.3(INTS1):c.6463G>A (p.Ala2155Thr)	INTS1 (A2155T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305883	NM_001080453.3(INTS1):c.6454C>G (p.Gln2152Glu)	INTS1 (Q2152E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2293793	NM_001080453.3(INTS1):c.6445C>G (p.Leu2149Val)	INTS1 (L2149V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236621	NM_001080453.3(INTS1):c.6429C>A (p.Asn2143Lys)	INTS1 (N982K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 643062	NM_001080453.3(INTS1):c.6381C>G (p.Tyr2127Ter)	INTS1 (Y2127*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3046580	NM_001080453.3(INTS1):c.6372G>A (p.Thr2124=)	INTS1	Single nucleotide variant (synonymous variant)	INTS1-related condition	GLikely benign
Select item 3065601	NM_001080453.3(INTS1):c.6320C>T (p.Ala2107Val)	INTS1 (A2107V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 2370360	NM_001080453.3(INTS1):c.6307G>A (p.Ala2103Thr)	INTS1 (A2103T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781892	NM_001080453.3(INTS1):c.6285C>T (p.Ala2095=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789292	NM_001080453.3(INTS1):c.6282G>A (p.Ser2094=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1678488	NM_001080453.3(INTS1):c.6256-5G>C	INTS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2661968	NM_001080453.3(INTS1):c.6256-6G>A	INTS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 710330	NM_001080453.3(INTS1):c.6255+6C>T	INTS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713701	NM_001080453.3(INTS1):c.6248T>G (p.Phe2083Cys)	INTS1 (F2083C)	Single nucleotide variant (missense variant)	INTS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2522761	NM_001080453.3(INTS1):c.6214G>A (p.Glu2072Lys)	INTS1 (E2072K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289065	NM_001080453.3(INTS1):c.6191T>C (p.Leu2064Pro)	INTS1 (L2064P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773884	NM_001080453.3(INTS1):c.6189G>A (p.Leu2063=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 792064	NM_001080453.3(INTS1):c.6185-15CT[2]	INTS1	Microsatellite (intron variant)	not provided	GBenign
Select item 781893	NM_001080453.3(INTS1):c.6150C>T (p.Tyr2050=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1800697	NM_001080453.3(INTS1):c.6139A>G (p.Met2047Val)	INTS1 (M2047V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2210009	NM_001080453.3(INTS1):c.6136G>A (p.Glu2046Lys)	INTS1 (E2046K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275276	NM_001080453.3(INTS1):c.6119C>G (p.Thr2040Ser)	INTS1 (T2040S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391102	NM_001080453.3(INTS1):c.6106G>A (p.Val2036Ile)	INTS1 (V875I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695718	NM_001080453.3(INTS1):c.6101T>G (p.Val2034Gly)	INTS1 (V2034G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338941	NM_001080453.3(INTS1):c.6073G>A (p.Glu2025Lys)	INTS1 (E2025K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657181	NM_001080453.3(INTS1):c.6058G>A (p.Glu2020Lys)	INTS1 (E2020K +1 more)	Single nucleotide variant (missense variant)	INTS1-related condition +1 more	GBenign/Likely benign
Select item 2225779	NM_001080453.3(INTS1):c.6043G>C (p.Asp2015His)	INTS1 (D2015H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699198	NM_001080453.3(INTS1):c.5970C>G (p.Phe1990Leu)	INTS1 (F1990L)	Single nucleotide variant (missense variant)	INTS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1310858	NM_001080453.3(INTS1):c.5959G>A (p.Asp1987Asn)	INTS1 (D1987N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725248	NM_001080453.3(INTS1):c.5952G>A (p.Pro1984=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058636	NM_001080453.3(INTS1):c.5943C>T (p.His1981=)	INTS1	Single nucleotide variant (synonymous variant)	INTS1-related condition	GLikely benign
Select item 792065	NM_001080453.3(INTS1):c.5932C>T (p.Leu1978=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2531721	NM_001080453.3(INTS1):c.5914C>G (p.Pro1972Ala)	INTS1 (P1972A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2616819	NM_001080453.3(INTS1):c.5899A>C (p.Ile1967Leu)	INTS1 (I1967L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204878	NM_001080453.3(INTS1):c.5885T>G (p.Phe1962Cys)	INTS1 (F1962C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689525	NM_001080453.3(INTS1):c.5881C>T (p.Gln1961Ter)	INTS1 (Q1961*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 2430426	NM_001080453.3(INTS1):c.5848C>T (p.Arg1950Cys)	INTS1 (R1950C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2407324	NM_001080453.3(INTS1):c.5814C>G (p.Phe1938Leu)	INTS1 (F1938L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806064	NM_001080453.3(INTS1):c.5776G>A (p.Glu1926Lys)	INTS1 (E1926K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 2569674	NM_001080453.3(INTS1):c.5759C>T (p.Pro1920Leu)	INTS1 (P759L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756223	NM_001080453.3(INTS1):c.5667C>T (p.His1889=)	INTS1, LOC129997773	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2413062	NM_001080453.3(INTS1):c.5652C>G (p.Ile1884Met)	INTS1, LOC129997773 (I1884M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522707	NM_001080453.3(INTS1):c.5648T>C (p.Met1883Thr)	INTS1, LOC129997773 (M1883T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209335	NM_001080453.3(INTS1):c.5647A>G (p.Met1883Val)	INTS1, LOC129997773 (M1883V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689523	NM_001080453.3(INTS1):c.5621C>T (p.Pro1874Leu)	INTS1 (P1874L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 1699498	NM_001080453.3(INTS1):c.5572C>T (p.Arg1858Ter)	INTS1 (R1858*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 1176852	NM_001080453.3(INTS1):c.5561C>T (p.Ala1854Val)	INTS1 (A1854V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 765661	NM_001080453.3(INTS1):c.5550C>T (p.Ser1850=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726061	NM_001080453.3(INTS1):c.5540C>T (p.Ala1847Val)	INTS1 (A1847V)	Single nucleotide variant (missense variant)	INTS1-related condition +1 more	GLikely benign
Select item 2329592	NM_001080453.3(INTS1):c.5522G>A (p.Arg1841His)	INTS1 (R680H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328176	NM_001080453.3(INTS1):c.5521C>T (p.Arg1841Cys)	INTS1 (R1841C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GUncertain significance
Select item 789188	NM_001080453.3(INTS1):c.5484C>T (p.Ala1828=)	INTS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2581706	NM_001080453.3(INTS1):c.5470A>G (p.Ser1824Gly)	INTS1 (S1824G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689250	NM_001080453.3(INTS1):c.5467C>T (p.His1823Tyr)	INTS1 (H1823Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621582	NM_001080453.3(INTS1):c.5462T>G (p.Leu1821Arg)	INTS1 (L660R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723385	NM_001080453.3(INTS1):c.5452C>T (p.Pro1818Ser)	INTS1 (P1818S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2378581	NM_001080453.3(INTS1):c.5449G>A (p.Val1817Met)	INTS1 (V656M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304025	NM_001080453.3(INTS1):c.5443G>T (p.Val1815Leu)	INTS1 (V1815L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592485	NM_001080453.3(INTS1):c.5432C>T (p.Pro1811Leu)	INTS1 (P1811L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589859	NM_001080453.3(INTS1):c.5403C>G (p.Asp1801Glu)	INTS1 (D640E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805960	NM_001080453.3(INTS1):c.5399G>A (p.Arg1800Gln)	INTS1 (R1800Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GUncertain significance
Select item 689522	NM_001080453.3(INTS1):c.5398dup (p.Arg1800fs)	INTS1 (R1800fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 774451	NM_001080453.3(INTS1):c.5388C>A (p.Gly1796=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1302721	NM_001080453.3(INTS1):c.5380G>C (p.Val1794Leu)	INTS1 (V1794L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722375	NM_001080453.3(INTS1):c.5379-7C>T	INTS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 689520	NM_001080453.3(INTS1):c.5351C>A (p.Ser1784Ter)	INTS1 (S1784*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 2657182	NM_001080453.3(INTS1):c.5325T>C (p.Ser1775=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657183	NM_001080453.3(INTS1):c.5317G>A (p.Asp1773Asn)	INTS1 (D1773N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2481382	NM_001080453.3(INTS1):c.5282G>A (p.Arg1761Gln)	INTS1 (R1761Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530263	NM_001080453.3(INTS1):c.5266A>G (p.Ser1756Gly)	INTS1 (S595G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2673094	NM_001080453.3(INTS1):c.5259C>T (p.Ala1753=)	INTS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479433	NM_001080453.3(INTS1):c.5247C>G (p.Asp1749Glu)	INTS1 (D1749E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549817	NM_001080453.3(INTS1):c.5246A>G (p.Asp1749Gly)	INTS1 (D1749G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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