KIAA1549L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 147329	GRCh38/hg38 11p13(chr11:32986646-33573778)x3	CSTF3, CSTF3-DT +26 more	Copy number gain	See cases	GUncertain significance
Select item 56995	GRCh38/hg38 11p13(chr11:33031527-33620145)x3	CSTF3, CSTF3-DT +22 more	Copy number gain	See cases	GUncertain significance
Select item 3114249	NM_012194.3(KIAA1549L):c.929T>C (p.Ile310Thr)	KIAA1549L (I310T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288176	NM_012194.3(KIAA1549L):c.977C>G (p.Ser326Cys)	KIAA1549L (S326C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234202	NM_012194.3(KIAA1549L):c.991A>G (p.Thr331Ala)	KIAA1549L (T331A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114238	NM_012194.3(KIAA1549L):c.1015T>C (p.Ser339Pro)	KIAA1549L (S339P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114239	NM_012194.3(KIAA1549L):c.1037G>T (p.Ser346Ile)	KIAA1549L (S346I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114242	NM_012194.3(KIAA1549L):c.1061C>T (p.Pro354Leu)	KIAA1549L (P354L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2393642	NM_012194.3(KIAA1549L):c.1064C>T (p.Ser355Phe)	KIAA1549L (S355F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288175	NM_012194.3(KIAA1549L):c.1066C>G (p.Pro356Ala)	KIAA1549L (P356A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288178	NM_012194.3(KIAA1549L):c.1070C>A (p.Pro357His)	KIAA1549L (P357H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338743	NM_012194.3(KIAA1549L):c.1159C>G (p.Gln387Glu)	KIAA1549L (Q387E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531726	NM_012194.3(KIAA1549L):c.1201G>A (p.Val401Met)	KIAA1549L (V401M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373070	NM_012194.3(KIAA1549L):c.1241A>G (p.His414Arg)	KIAA1549L (H414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114247	NM_012194.3(KIAA1549L):c.1265A>G (p.Gln422Arg)	KIAA1549L (Q422R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321326	NM_012194.3(KIAA1549L):c.1295C>T (p.Thr432Ile)	KIAA1549L (T432I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288181	NM_012194.3(KIAA1549L):c.1297A>G (p.Ser433Gly)	KIAA1549L (S433G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354723	NM_012194.3(KIAA1549L):c.1456C>T (p.Leu486Phe)	KIAA1549L (L486F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114266	NM_012194.3(KIAA1549L):c.1513C>T (p.Leu505Phe)	KIAA1549L (L505F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114267	NM_012194.3(KIAA1549L):c.1754C>T (p.Pro585Leu)	KIAA1549L (P585L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469922	NM_012194.3(KIAA1549L):c.1873C>T (p.Pro625Ser)	KIAA1549L (P625S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2222889	NM_012194.3(KIAA1549L):c.1892C>G (p.Ser631Cys)	KIAA1549L (S631C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114234	NM_012194.3(KIAA1549L):c.1960G>A (p.Ala654Thr)	KIAA1549L (A654T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326265	NM_012194.3(KIAA1549L):c.2001A>C (p.Lys667Asn)	KIAA1549L (K667N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114235	NM_012194.3(KIAA1549L):c.2005G>T (p.Val669Leu)	KIAA1549L (V669L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217439	NM_012194.3(KIAA1549L):c.2054G>A (p.Gly685Glu)	KIAA1549L (G685E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114236	NM_012194.3(KIAA1549L):c.2069C>T (p.Pro690Leu)	KIAA1549L (P690L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321089	NM_012194.3(KIAA1549L):c.2105C>A (p.Ala702Glu)	KIAA1549L (A702E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114237	NM_012194.3(KIAA1549L):c.2139A>G (p.Ile713Met)	KIAA1549L (I713M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598379	NM_012194.3(KIAA1549L):c.2144G>C (p.Gly715Ala)	KIAA1549L (G715A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560166	NM_012194.3(KIAA1549L):c.2198G>T (p.Ser733Ile)	KIAA1549L (S733I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615797	NM_012194.3(KIAA1549L):c.2216C>T (p.Ala739Val)	KIAA1549L (A739V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784189	NM_012194.3(KIAA1549L):c.2229T>C (p.Pro743=)	KIAA1549L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3288179	NM_012194.3(KIAA1549L):c.2234A>G (p.Asn745Ser)	KIAA1549L (N745S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2346420	NM_012194.3(KIAA1549L):c.2341A>G (p.Thr781Ala)	KIAA1549L (T781A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114240	NM_012194.3(KIAA1549L):c.2380A>G (p.Met794Val)	KIAA1549L (M794V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2460204	NM_012194.3(KIAA1549L):c.2414G>A (p.Ser805Asn)	KIAA1549L (S805N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517341	NM_012194.3(KIAA1549L):c.2627A>G (p.Asn876Ser)	KIAA1549L (N876S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513436	NM_012194.3(KIAA1549L):c.2648C>G (p.Ala883Gly)	KIAA1549L (A883G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114243	NM_012194.3(KIAA1549L):c.2701A>G (p.Ile901Val)	KIAA1549L (I901V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220397	NM_012194.3(KIAA1549L):c.2743C>T (p.Arg915Trp)	KIAA1549L (R915W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470460	NM_012194.3(KIAA1549L):c.2774C>T (p.Ala925Val)	KIAA1549L (A195V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389123	NM_012194.3(KIAA1549L):c.2876A>G (p.Lys959Arg)	KIAA1549L (K229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299691	NM_012194.3(KIAA1549L):c.2924G>T (p.Ser975Ile)	KIAA1549L (S245I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114244	NM_012194.3(KIAA1549L):c.2949A>C (p.Lys983Asn)	KIAA1549L (K983N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641715	NM_012194.3(KIAA1549L):c.3000C>G (p.Val1000=)	KIAA1549L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3288180	NM_012194.3(KIAA1549L):c.3115A>G (p.Thr1039Ala)	KIAA1549L (T1039A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353880	NM_012194.3(KIAA1549L):c.3188C>T (p.Ala1063Val)	KIAA1549L (A333V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288177	NM_012194.3(KIAA1549L):c.3221C>T (p.Ala1074Val)	KIAA1549L (A344V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250095	NM_012194.3(KIAA1549L):c.3232A>G (p.Ile1078Val)	KIAA1549L (I1078V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519426	NM_012194.3(KIAA1549L):c.3256C>T (p.Arg1086Trp)	KIAA1549L (R356W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641716	NM_012194.3(KIAA1549L):c.3267A>C (p.Pro1089=)	KIAA1549L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2279307	NM_012194.3(KIAA1549L):c.3436A>G (p.Ser1146Gly)	KIAA1549L (S416G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310630	NM_012194.3(KIAA1549L):c.3442G>A (p.Ala1148Thr)	KIAA1549L (A1148T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114245	NM_012194.3(KIAA1549L):c.3538G>A (p.Gly1180Ser)	KIAA1549L (G450S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253309	NM_012194.3(KIAA1549L):c.3728A>C (p.Gln1243Pro)	KIAA1549L (Q1243P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364868	NM_012194.3(KIAA1549L):c.3743C>T (p.Ala1248Val)	KIAA1549L (A1248V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465272	NM_012194.3(KIAA1549L):c.3794A>G (p.Gln1265Arg)	KIAA1549L (Q535R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480820	NM_012194.3(KIAA1549L):c.3843C>G (p.Asn1281Lys)	KIAA1549L (N1281K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545260	NM_012194.3(KIAA1549L):c.3940G>A (p.Ala1314Thr)	KIAA1549L (A1314T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523532	NM_012194.3(KIAA1549L):c.4025A>C (p.Glu1342Ala)	KIAA1549L (E612A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641717	NM_012194.3(KIAA1549L):c.4260G>A (p.Pro1420=)	KIAA1549L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785344	NM_012194.3(KIAA1549L):c.4299C>T (p.Asn1433=)	KIAA1549L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623534	NM_012194.3(KIAA1549L):c.4319C>T (p.Thr1440Ile)	KIAA1549L (T1440I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623427	NM_012194.3(KIAA1549L):c.4648A>T (p.Thr1550Ser)	KIAA1549L (T1550S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318393	NM_012194.3(KIAA1549L):c.4704G>T (p.Gln1568His)	KIAA1549L (Q838H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360402	NM_012194.3(KIAA1549L):c.4738G>A (p.Glu1580Lys)	KIAA1549L (E1580K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329482	NM_012194.3(KIAA1549L):c.4922A>G (p.Asn1641Ser)	KIAA1549L (N1641S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114250	NM_012194.3(KIAA1549L):c.4925C>T (p.Ser1642Phe)	KIAA1549L (S1642F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114251	NM_012194.3(KIAA1549L):c.4936G>A (p.Ala1646Thr)	KIAA1549L (A916T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114252	NM_012194.3(KIAA1549L):c.4976T>C (p.Leu1659Pro)	KIAA1549L (L1659P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279793	NM_012194.3(KIAA1549L):c.4999C>T (p.Leu1667Phe)	KIAA1549L (L1667F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288174	NM_012194.3(KIAA1549L):c.5020T>C (p.Ser1674Pro)	KIAA1549L (S944P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236664	NM_012194.3(KIAA1549L):c.5042C>T (p.Ser1681Leu)	KIAA1549L (S951L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352483	NM_012194.3(KIAA1549L):c.5056G>A (p.Gly1686Ser)	KIAA1549L (G956S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246069	NM_012194.3(KIAA1549L):c.5072C>T (p.Ala1691Val)	KIAA1549L (A1691V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114253	NM_012194.3(KIAA1549L):c.5105G>A (p.Arg1702Gln)	KIAA1549L (R1702Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114254	NM_012194.3(KIAA1549L):c.5116C>T (p.Arg1706Cys)	KIAA1549L (R1706C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368958	NM_012194.3(KIAA1549L):c.5143T>C (p.Tyr1715His)	KIAA1549L (Y985H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372883	NM_012194.3(KIAA1549L):c.5165C>T (p.Thr1722Met)	KIAA1549L (T992M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493860	NM_012194.3(KIAA1549L):c.5210C>T (p.Pro1737Leu)	KIAA1549L (P1737L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240934	NM_012194.3(KIAA1549L):c.5233G>A (p.Asp1745Asn)	KIAA1549L (D1745N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266427	NM_012194.3(KIAA1549L):c.5267A>C (p.Glu1756Ala)	KIAA1549L (E1756A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306791	NM_012194.3(KIAA1549L):c.5306G>A (p.Arg1769Lys)	KIAA1549L (R1769K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288173	NM_012194.3(KIAA1549L):c.5330C>T (p.Pro1777Leu)	KIAA1549L (P1047L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329915	NM_012194.3(KIAA1549L):c.5369G>A (p.Arg1790Gln)	KIAA1549L (R1060Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214142	NM_012194.3(KIAA1549L):c.5461C>T (p.Arg1821Trp)	KIAA1549L (R1091W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114255	NM_012194.3(KIAA1549L):c.5596C>T (p.His1866Tyr)	KIAA1549L (H1136Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768440	NM_012194.3(KIAA1549L):c.5602G>A (p.Gly1868Ser)	KIAA1549L (G1868S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3114256	NM_012194.3(KIAA1549L):c.5611C>T (p.Arg1871Trp)	KIAA1549L (R1871W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589849	NM_012194.3(KIAA1549L):c.5648C>T (p.Pro1883Leu)	KIAA1549L (P1883L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114257	NM_012194.3(KIAA1549L):c.5671G>A (p.Ala1891Thr)	KIAA1549L (A1891T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114258	NM_012194.3(KIAA1549L):c.5690G>A (p.Arg1897Gln)	KIAA1549L (R1897Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114259	NM_012194.3(KIAA1549L):c.5701G>A (p.Gly1901Arg)	KIAA1549L (G1901R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219893	NM_012194.3(KIAA1549L):c.5734A>G (p.Met1912Val)	KIAA1549L (M1912V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2220085	NM_012194.3(KIAA1549L):c.5756G>A (p.Arg1919Gln)	KIAA1549L (R1919Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411418	NM_012194.3(KIAA1549L):c.5759C>T (p.Pro1920Leu)	KIAA1549L (P1920L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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