KIAA1549[gene] - 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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 59694	GRCh38/hg38 7q34(chr7:138795539-140364913)x3	ATP6V0A4, CLEC2L +86 more	Copy number gain	See cases	GUncertain significance
Select item 1946180	NM_001164665.2(KIAA1549):c.5844C>T (p.Phe1948=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128678	NM_001164665.2(KIAA1549):c.5841C>G (p.Asn1947Lys)	KIAA1549 (N1947K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971094	NM_001164665.2(KIAA1549):c.5833G>A (p.Val1945Met)	KIAA1549 (V1945M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1113449	NM_001164665.2(KIAA1549):c.5832C>T (p.Thr1944=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512012	NM_001164665.2(KIAA1549):c.5831C>T (p.Thr1944Ile)	KIAA1549 (T1928I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905946	NM_001164665.2(KIAA1549):c.5826G>C (p.Gln1942His)	KIAA1549 (Q1926H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1489132	NM_001164665.2(KIAA1549):c.5822A>G (p.Lys1941Arg)	KIAA1549 (K1925R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935561	NM_001164665.2(KIAA1549):c.5819A>G (p.Gln1940Arg)	KIAA1549 (Q1924R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 851361	NM_001164665.2(KIAA1549):c.5815T>G (p.Ser1939Ala)	KIAA1549 (S1923A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559440	NM_001164665.2(KIAA1549):c.5814C>T (p.Leu1938=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056110	NM_001164665.2(KIAA1549):c.5810G>A (p.Arg1937Gln)	KIAA1549 (R1937Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898231	NM_001164665.2(KIAA1549):c.5809C>T (p.Arg1937Trp)	KIAA1549 (R1937W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1140804	NM_001164665.2(KIAA1549):c.5796C>A (p.Arg1932=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1054582	NM_001164665.2(KIAA1549):c.5796C>T (p.Arg1932=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388739	NM_001164665.2(KIAA1549):c.5795G>A (p.Arg1932His)	KIAA1549 (R1916H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855129	NM_001164665.2(KIAA1549):c.5794C>T (p.Arg1932Cys)	KIAA1549 (R1932C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646987	NM_001164665.2(KIAA1549):c.5781C>A (p.Leu1927=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260672	NM_001164665.2(KIAA1549):c.5779C>G (p.Leu1927Val)	KIAA1549 (L1911V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761155	NM_001164665.2(KIAA1549):c.5778T>C (p.Ser1926=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532576	NM_001164665.2(KIAA1549):c.5775C>T (p.Ala1925=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1476984	NM_001164665.2(KIAA1549):c.5772G>A (p.Ser1924=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2259529	NM_001164665.2(KIAA1549):c.5771C>T (p.Ser1924Leu)	KIAA1549 (S1908L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2095128	NM_001164665.2(KIAA1549):c.5768C>T (p.Ser1923Phe)	KIAA1549 (S1907F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513642	NM_001164665.2(KIAA1549):c.5765A>G (p.His1922Arg)	KIAA1549 (H1922R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816638	NM_001164665.2(KIAA1549):c.5764C>A (p.His1922Asn)	KIAA1549 (H1922N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961799	NM_001164665.2(KIAA1549):c.5761G>C (p.Gly1921Arg)	KIAA1549 (G1905R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054081	NM_001164665.2(KIAA1549):c.5745G>A (p.Thr1915=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1505516	NM_001164665.2(KIAA1549):c.5744C>T (p.Thr1915Met)	KIAA1549 (T1899M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3035473	NM_001164665.2(KIAA1549):c.5736C>A (p.Thr1912=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder	GLikely benign
Select item 2077304	NM_001164665.2(KIAA1549):c.5734A>G (p.Thr1912Ala)	KIAA1549 (T1896A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836683	NM_001164665.2(KIAA1549):c.5731C>T (p.Pro1911Ser)	KIAA1549 (P1895S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1607781	NM_001164665.2(KIAA1549):c.5730C>T (p.Tyr1910=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839836	NM_001164665.2(KIAA1549):c.5717C>G (p.Pro1906Arg)	KIAA1549 (P1906R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1152224	NM_001164665.2(KIAA1549):c.5709G>T (p.Leu1903=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327731	NM_001164665.2(KIAA1549):c.5702G>A (p.Arg1901Gln)	KIAA1549 (R1885Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 858602	NM_001164665.2(KIAA1549):c.5701C>T (p.Arg1901Trp)	KIAA1549 (R1885W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 950799	NM_001164665.2(KIAA1549):c.5699A>T (p.His1900Leu)	KIAA1549 (H1884L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429504	NM_001164665.2(KIAA1549):c.5698C>G (p.His1900Asp)	KIAA1549 (H1884D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943682	NM_001164665.2(KIAA1549):c.5698C>T (p.His1900Tyr)	KIAA1549 (H1884Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1933775	NM_001164665.2(KIAA1549):c.5687G>C (p.Gly1896Ala)	KIAA1549 (G1880A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121943	NM_001164665.2(KIAA1549):c.5686G>T (p.Gly1896Trp)	KIAA1549 (G1880W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351204	NM_001164665.2(KIAA1549):c.5686G>A (p.Gly1896Arg)	KIAA1549 (G1880R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1460292	NM_001164665.2(KIAA1549):c.5685C>T (p.Ser1895=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967933	NM_001164665.2(KIAA1549):c.5673C>T (p.Pro1891=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357140	NM_001164665.2(KIAA1549):c.5664C>G (p.Gly1888=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719440	NM_001164665.2(KIAA1549):c.5662G>A (p.Gly1888Ser)	KIAA1549 (G1888S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1560546	NM_001164665.2(KIAA1549):c.5637G>A (p.Pro1879=)	KIAA1549	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 861518	NM_001164665.2(KIAA1549):c.5636C>T (p.Pro1879Leu)	KIAA1549 (P1879L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2724606	NM_001164665.2(KIAA1549):c.5625TTC[2] (p.Ser1878del)	KIAA1549 (S1878del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1911694	NM_001164665.2(KIAA1549):c.5632T>C (p.Ser1878Pro)	KIAA1549 (S1878P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1138780	NM_001164665.2(KIAA1549):c.5631T>C (p.Ser1877=)	KIAA1549	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947666	NM_001164665.2(KIAA1549):c.5627C>A (p.Ser1876Tyr)	KIAA1549 (S1876Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715468	NM_001164665.2(KIAA1549):c.5627C>G (p.Ser1876Cys)	KIAA1549 (S1876C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072756	NM_001164665.2(KIAA1549):c.5617C>G (p.Gln1873Glu)	KIAA1549 (Q1873E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939751	NM_001164665.2(KIAA1549):c.5613A>G (p.Gly1871=)	KIAA1549	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1961453	NM_001164665.2(KIAA1549):c.5611G>A (p.Gly1871Arg)	KIAA1549 (G1871R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1578076	NM_001164665.2(KIAA1549):c.5610C>T (p.Leu1870=)	KIAA1549	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2232064	NM_001164665.2(KIAA1549):c.5607G>C (p.Met1869Ile)	KIAA1549 (M1869I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1060825	NM_001164665.2(KIAA1549):c.5605A>G (p.Met1869Val)	KIAA1549 (M1869V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1063063	NM_001164665.2(KIAA1549):c.5603A>G (p.His1868Arg)	KIAA1549 (H1868R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1485995	NM_001164665.2(KIAA1549):c.5599A>G (p.Thr1867Ala)	KIAA1549 (T1867A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1161795	NM_001164665.2(KIAA1549):c.5599-10T>C	KIAA1549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848018	NM_001164665.2(KIAA1549):c.5599-11A>G	KIAA1549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950907	NM_001164665.2(KIAA1549):c.5599-18G>A	KIAA1549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930274	NM_001164665.2(KIAA1549):c.5599-18G>T	KIAA1549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652087	NM_001164665.2(KIAA1549):c.5599-19C>T	KIAA1549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844852	NM_001164665.2(KIAA1549):c.5598+17T>G	KIAA1549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928300	NM_001164665.2(KIAA1549):c.5598+13T>C	KIAA1549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009758	NM_001164665.2(KIAA1549):c.5598+7A>G	KIAA1549	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2017574	NM_001164665.2(KIAA1549):c.5598+5G>A	KIAA1549	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1405182	NM_001164665.2(KIAA1549):c.5598C>T (p.Ala1866=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 940286	NM_001164665.2(KIAA1549):c.5590A>G (p.Arg1864Gly)	KIAA1549 (R1864G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 999600	NM_001164665.2(KIAA1549):c.5588G>A (p.Arg1863Gln)	KIAA1549 (R1863Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792087	NM_001164665.2(KIAA1549):c.5587C>T (p.Arg1863Ter)	KIAA1549 (R1863*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1977391	NM_001164665.2(KIAA1549):c.5586G>T (p.Gly1862=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649457	NM_001164665.2(KIAA1549):c.5583G>A (p.Ala1861=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376172	NM_001164665.2(KIAA1549):c.5582C>T (p.Ala1861Val)	KIAA1549 (A1861V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345050	NM_001164665.2(KIAA1549):c.5578G>A (p.Glu1860Lys)	KIAA1549 (E1860K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1658623	NM_001164665.2(KIAA1549):c.5577C>T (p.Asp1859=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 86 +1 more	GLikely benign
Select item 2083048	NM_001164665.2(KIAA1549):c.5576A>G (p.Asp1859Gly)	KIAA1549 (D1859G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1368770	NM_001164665.2(KIAA1549):c.5572G>A (p.Glu1858Lys)	KIAA1549 (E1858K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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