PI4KA[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320583	NM_058004.4(PI4KA):c.*167G>A	PI4KA	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1262196	NM_058004.4(PI4KA):c.*67C>A	PI4KA	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1264527	NM_058004.4(PI4KA):c.6258-180C>T	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220800	NM_058004.4(PI4KA):c.6258-293C>T	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288189	NM_058004.4(PI4KA):c.6258-311C>T	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3026751	NM_058004.4(PI4KA):c.6216T>C (p.Asn2072=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769146	NM_058004.4(PI4KA):c.6174-5C>T	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1178212	NM_058004.4(PI4KA):c.6173+244A>C	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264873	NM_058004.4(PI4KA):c.6173+220_6173+221insTA	PI4KA	Insertion (intron variant)	not provided	GBenign
Select item 1286373	NM_058004.4(PI4KA):c.6173+200G>A	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266351	NM_058004.4(PI4KA):c.6173+139G>A	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182068	NM_058004.4(PI4KA):c.6173+76C>T	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1325874	NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs)	PI4KA (T2022fs +2 more)	Deletion (frameshift variant)	Spastic paraplegia 84, autosomal recessive +1 more	GPathogenic
Select item 2633238	NM_058004.4(PI4KA):c.6142T>A (p.Cys2048Ser)	PI4KA (C2017S +2 more)	Single nucleotide variant (missense variant)	PI4KA-related disorder	GUncertain significance
Select item 779291	NM_058004.4(PI4KA):c.6099G>A (p.Ala2033=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1275198	NM_058004.4(PI4KA):c.6084-71T>G	PI4KA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1297977	NM_058004.4(PI4KA):c.6084-102G>A	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1335867	NM_058004.4(PI4KA):c.6065del (p.Arg2022fs)	PI4KA (R1991fs +2 more)	Deletion (frameshift variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 784557	NM_058004.4(PI4KA):c.6036C>T (p.Pro2012=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2326618	NM_058004.4(PI4KA):c.5977G>A (p.Asp1993Asn)	PI4KA (D1962N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1675874	NM_058004.4(PI4KA):c.5974C>T (p.Pro1992Ser)	PI4KA (P1961S +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more	GLikely pathogenic
Select item 790232	NM_058004.4(PI4KA):c.5955C>T (p.Gly1985=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652905	NM_058004.4(PI4KA):c.5935A>G (p.Met1979Val)	PI4KA (M1948V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286772	NM_058004.4(PI4KA):c.5929G>A (p.Gly1977Ser)	PI4KA (G1946S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1293825	NM_058004.4(PI4KA):c.5924-55T>C	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174398	NM_058004.4(PI4KA):c.5924-139T>C	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316576	NM_058004.4(PI4KA):c.5924-221C>T	PI4KA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288649	NM_058004.4(PI4KA):c.5923+41del	PI4KA	Deletion (intron variant)	not provided	GBenign
Select item 1251392	NM_058004.4(PI4KA):c.5907T>C (p.Gly1969=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2557562	NM_058004.4(PI4KA):c.5897A>C (p.Asp1966Ala)	PI4KA (D1944A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705310	NM_058004.4(PI4KA):c.5860C>G (p.Gln1954Glu)	PI4KA (Q1923E +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 3256669	NM_058004.4(PI4KA):c.5821C>T (p.Arg1941Ter)	PI4KA (R1919* +2 more)	Single nucleotide variant (nonsense)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GLikely pathogenic
Select item 1711547	NM_058004.4(PI4KA):c.5818A>C (p.Ile1940Leu)	PI4KA (I1909L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266128	NM_058004.4(PI4KA):c.5803-183T>A	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180114	NM_058004.4(PI4KA):c.5803-241T>A	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269615	NM_058004.4(PI4KA):c.5802+272A>G	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179740	NM_058004.4(PI4KA):c.5787T>C (p.Thr1929=)	PI4KA	Single nucleotide variant (synonymous variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GBenign
Select item 1335866	NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu)	PI4KA (G1925E +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 2652906	NM_058004.4(PI4KA):c.5772C>T (p.Tyr1924=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1286017	NM_058004.4(PI4KA):c.5679C>T (p.Cys1893=)	PI4KA	Single nucleotide variant (synonymous variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more	GBenign
Select item 1283281	NM_058004.4(PI4KA):c.5677-31A>G	PI4KA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1251385	NM_058004.4(PI4KA):c.5677-37G>A	PI4KA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1251294	NM_058004.4(PI4KA):c.5676+39C>A	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 785919	NM_058004.4(PI4KA):c.5676+8C>G	PI4KA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777665	NM_058004.4(PI4KA):c.5676+4A>G	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2590727	NM_058004.4(PI4KA):c.5671C>T (p.Pro1891Ser)	PI4KA (P1869S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705451	NM_058004.4(PI4KA):c.5653C>T (p.Arg1885Cys)	PI4KA (R1854C +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia 84, autosomal recessive	GUncertain significance
Select item 2343064	NM_058004.4(PI4KA):c.5647C>T (p.Pro1883Ser)	PI4KA (P1852S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 816782	NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser)	PI4KA (F1851S +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 623974	NM_058004.4(PI4KA):c.5596G>A (p.Asp1866Asn)	PI4KA (D1866N +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +3 more	GUncertain significance
Select item 717122	NM_058004.4(PI4KA):c.5595C>T (p.Ile1865=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208451	NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn)	PI4KA (D1854N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 816781	NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn)	PI4KA (D1807N +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 714270	NM_058004.4(PI4KA):c.5511C>T (p.Ala1837=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239024	NM_058004.4(PI4KA):c.5484C>T (p.Ser1828=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1269979	NM_058004.4(PI4KA):c.5481C>T (p.Asp1827=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2287575	NM_058004.4(PI4KA):c.5473C>T (p.Arg1825Cys)	PI4KA (R1794C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804846	NM_058004.4(PI4KA):c.5462-8G>A	PI4KA	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2688121	NM_058004.4(PI4KA):c.5462-44C>T	PI4KA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1264735	NM_058004.4(PI4KA):c.5462-128G>C	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240780	NM_058004.4(PI4KA):c.5462-301G>C	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226978	NM_058004.4(PI4KA):c.5462-306C>A	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245210	NM_058004.4(PI4KA):c.5462-347G>T	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221006	NM_058004.4(PI4KA):c.5461+209C>T	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221270	NM_058004.4(PI4KA):c.5461+87T>C	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1325875	NM_058004.4(PI4KA):c.5456AAG[1] (p.Glu1820del)	PI4KA (E1789del +2 more)	Microsatellite (inframe_deletion)	Spastic paraplegia 84, autosomal recessive	GPathogenic
Select item 1236335	NM_058004.4(PI4KA):c.5391-34A>C	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more	GBenign
Select item 1236354	NM_058004.4(PI4KA):c.5390+38G>A	PI4KA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1232507	NM_058004.4(PI4KA):c.5318-71T>A	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3341658	NM_058004.4(PI4KA):c.5316G>A (p.Pro1772=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1279484	NM_058004.4(PI4KA):c.5246+325T>C	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791413	NM_058004.4(PI4KA):c.5235G>A (p.Ser1745=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 719553	NM_058004.4(PI4KA):c.5229C>T (p.Asn1743=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652907	NM_058004.4(PI4KA):c.5172C>G (p.Ser1724=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325877	NM_058004.4(PI4KA):c.5159C>T (p.Thr1720Ile)	PI4KA (T1720I +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia 84, autosomal recessive	GPathogenic
Select item 218827	NM_058004.4(PI4KA):c.5137G>C (p.Asp1713His)	PI4KA (D1713H +2 more)	Single nucleotide variant (missense variant)	PI4KA-related disorder +2 more	GUncertain significance
Select item 1262251	NM_058004.4(PI4KA):c.5117-12C>T	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GBenign
Select item 1254082	NM_058004.4(PI4KA):c.5117-171G>A	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281760	NM_058004.4(PI4KA):c.5116+49T>G	PI4KA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2441835	NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)	PI4KA (P1675A +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more	GUncertain significance
Select item 2318607	NM_058004.4(PI4KA):c.5099A>G (p.Glu1700Gly)	PI4KA (E1669G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652908	NM_058004.4(PI4KA):c.5097A>G (p.Glu1699=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040513	NM_058004.4(PI4KA):c.5031G>A (p.Ala1677=)	PI4KA	Single nucleotide variant (synonymous variant)	PI4KA-related disorder	GLikely benign
Select item 1178463	NM_058004.4(PI4KA):c.4995+228G>T	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286549	NM_058004.4(PI4KA):c.4995+53dup	PI4KA	Duplication (intron variant)	not provided +1 more	GBenign
Select item 3038209	NM_058004.4(PI4KA):c.4995+3A>G	PI4KA	Single nucleotide variant (intron variant)	PI4KA-related disorder	GLikely benign
Select item 2498149	NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)	PI4KA (D1633N +2 more)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 2652909	NM_058004.4(PI4KA):c.4944C>T (p.Asp1648=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234505	NM_058004.4(PI4KA):c.4929G>C (p.Arg1643=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1723895	NM_058004.4(PI4KA):c.4901del (p.Thr1634fs)	PI4KA (T1603fs +2 more)	Deletion (frameshift variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GLikely pathogenic
Select item 1335865	NM_058004.4(PI4KA):c.4867T>G (p.Tyr1623Asp)	PI4KA (Y1623D +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal defects and immunodeficiency syndrome 2	GPathogenic
Select item 2652910	NM_058004.4(PI4KA):c.4851A>G (p.Pro1617=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652911	NM_058004.4(PI4KA):c.4839G>T (p.Ala1613=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602320	NM_058004.4(PI4KA):c.4796T>C (p.Ile1599Thr)	PI4KA (I1599T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1241184	NM_058004.4(PI4KA):c.4773+98G>A	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273276	NM_058004.4(PI4KA):c.4773+29G>A	PI4KA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3044166	NM_058004.4(PI4KA):c.4773+6G>A	PI4KA	Single nucleotide variant (intron variant)	PI4KA-related disorder	GLikely benign
Select item 2574878	NM_058004.4(PI4KA):c.4765G>T (p.Ala1589Ser)	PI4KA (A1558S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434704	NM_058004.4(PI4KA):c.4711G>A (p.Glu1571Lys)	PI4KA (E1540K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3035572	NM_058004.4(PI4KA):c.4682+10C>T	PI4KA	Single nucleotide variant (intron variant)	PI4KA-related disorder	GBenign

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