ClinVar for Gene (Select 25758) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288184	NM_012194.3(KIAA1549L):c.6276G>T (p.Gln2092His)	KIAA1549L (Q2092H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288183	NM_012194.3(KIAA1549L):c.6350A>G (p.Asn2117Ser)	KIAA1549L (N1387S +1 more)	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 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 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 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 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 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 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 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 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 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 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 3114265	NM_012194.3(KIAA1549L):c.6302C>T (p.Ser2101Leu)	KIAA1549L (S1371L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114264	NM_012194.3(KIAA1549L):c.6296C>T (p.Ala2099Val)	KIAA1549L (A1369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114263	NM_012194.3(KIAA1549L):c.5980T>G (p.Leu1994Val)	KIAA1549L (L1994V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114262	NM_012194.3(KIAA1549L):c.5959G>A (p.Gly1987Ser)	KIAA1549L (G1987S +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3063213	GRCh37/hg19 11p13(chr11:32963206-33652440)x1	CSTF3, DEPDC7 +5 more	Copy number loss	not specified	GUncertain significance
Select item 2641718	NM_012194.3(KIAA1549L):c.6201G>A (p.Arg2067=)	KIAA1549L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641717	NM_012194.3(KIAA1549L):c.4260G>A (p.Pro1420=)	KIAA1549L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641716	NM_012194.3(KIAA1549L):c.3267A>C (p.Pro1089=)	KIAA1549L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641715	NM_012194.3(KIAA1549L):c.3000C>G (p.Val1000=)	KIAA1549L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2597189	NM_012194.3(KIAA1549L):c.5971G>A (p.Val1991Met)	KIAA1549L (V1991M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597181	NM_012194.3(KIAA1549L):c.5945C>T (p.Thr1982Met)	KIAA1549L (T1252M +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 2560733	NM_012194.3(KIAA1549L):c.6287C>T (p.Pro2096Leu)	KIAA1549L (P1366L +1 more)	Single nucleotide variant (missense variant)	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 2548779	NM_012194.3(KIAA1549L):c.5827A>G (p.Thr1943Ala)	KIAA1549L, LOC126861178 (T1943A +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 2543224	NM_012194.3(KIAA1549L):c.6367C>T (p.Leu2123Phe)	KIAA1549L (L1393F +1 more)	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 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 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 2518598	NM_012194.3(KIAA1549L):c.5824C>T (p.Arg1942Trp)	KIAA1549L, LOC126861178 (R1212W +1 more)	Single nucleotide variant (missense variant)	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 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 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 2477518	NM_012194.3(KIAA1549L):c.6322A>C (p.Asn2108His)	KIAA1549L (N2108H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472378	NM_012194.3(KIAA1549L):c.5872A>G (p.Ile1958Val)	KIAA1549L (I1228V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 2411418	NM_012194.3(KIAA1549L):c.5759C>T (p.Pro1920Leu)	KIAA1549L (P1920L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409346	NM_012194.3(KIAA1549L):c.6435G>C (p.Gln2145His)	KIAA1549L (Q1415H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2381751	NM_012194.3(KIAA1549L):c.6156T>A (p.Asp2052Glu)	KIAA1549L (D1322E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381723	NM_012194.3(KIAA1549L):c.5975C>T (p.Thr1992Met)	KIAA1549L (T1992M +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 2360653	NM_012194.3(KIAA1549L):c.6335A>T (p.Asp2112Val)	KIAA1549L (D1382V +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 2354723	NM_012194.3(KIAA1549L):c.1456C>T (p.Leu486Phe)	KIAA1549L (L486F)	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 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 2346420	NM_012194.3(KIAA1549L):c.2341A>G (p.Thr781Ala)	KIAA1549L (T781A)	Single nucleotide variant (missense variant)	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 2333973	NM_012194.3(KIAA1549L):c.6200G>A (p.Arg2067Gln)	KIAA1549L (R1337Q +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 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 2326265	NM_012194.3(KIAA1549L):c.2001A>C (p.Lys667Asn)	KIAA1549L (K667N)	Single nucleotide variant (missense variant)	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 2321089	NM_012194.3(KIAA1549L):c.2105C>A (p.Ala702Glu)	KIAA1549L (A702E)	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 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 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 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 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 2279307	NM_012194.3(KIAA1549L):c.3436A>G (p.Ser1146Gly)	KIAA1549L (S416G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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