"GeneDx"[submitter] AND "KNL1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1235131	NM_144508.5(KNL1):c.-17-278C>A	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201708	NM_144508.5(KNL1):c.-17-53G>T	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185905	NM_144508.5(KNL1):c.35+135A>T	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269384	NM_144508.5(KNL1):c.35+276T>C	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193032	NM_144508.5(KNL1):c.36-203A>G	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218883	NM_144508.5(KNL1):c.36-136A>G	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 315841	NM_144508.5(KNL1):c.75+6A>G	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1189472	NM_144508.5(KNL1):c.75+58A>G	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255333	NM_144508.5(KNL1):c.75+239G>A	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128586	NM_144508.5(KNL1):c.128G>C (p.Arg43Thr)	KNL1 (R43T)	Single nucleotide variant (missense variant)	Primary Microcephaly, Recessive +3 more	GBenign
Select item 1256682	NM_144508.5(KNL1):c.135+138G>A	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218406	NM_144508.5(KNL1):c.136-241G>T	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272875	NM_144508.5(KNL1):c.136-172G>T	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266916	NM_144508.5(KNL1):c.136-86del	KNL1	Deletion (intron variant)	not provided	GBenign
Select item 1223504	NM_144508.5(KNL1):c.198-311G>C	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128592	NM_144508.5(KNL1):c.245T>C (p.Met82Thr)	KNL1 (M82T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 128580	NM_144508.5(KNL1):c.250+556G>A	KNL1 (R102Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1219519	NM_144508.5(KNL1):c.250+584C>T	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266129	NM_144508.5(KNL1):c.251-356del	KNL1	Deletion (intron variant)	not provided	GBenign
Select item 1181850	NM_144508.5(KNL1):c.251-220G>A	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128595	NM_144508.5(KNL1):c.259A>G (p.Thr87Ala)	KNL1 (T113A +1 more)	Single nucleotide variant (missense variant)	Primary Microcephaly, Recessive +3 more	GBenign
Select item 1180347	NM_144508.5(KNL1):c.284+33A>T	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241555	NM_144508.5(KNL1):c.284+105C>A	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185931	NM_144508.5(KNL1):c.284+173A>T	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1699626	NM_144508.5(KNL1):c.285-170G>A	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192618	NM_144508.5(KNL1):c.322+123dup	KNL1	Duplication (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign
Select item 1238873	NM_144508.5(KNL1):c.376-227A>G	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817148	NM_144508.5(KNL1):c.424_427del (p.Thr142fs)	KNL1 (T142fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 716182	NM_144508.5(KNL1):c.451A>G (p.Met151Val)	KNL1 (M151V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign/Likely benign
Select item 785483	NM_144508.5(KNL1):c.497T>C (p.Leu166Ser)	KNL1 (L192S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 128607	NM_144508.5(KNL1):c.727A>G (p.Ile243Val)	KNL1 (I269V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 315844	NM_144508.5(KNL1):c.812C>G (p.Thr271Ser)	KNL1 (T297S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2430455	NM_144508.5(KNL1):c.853C>G (p.Gln285Glu)	KNL1 (Q285E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374462	NM_144508.5(KNL1):c.1214A>G (p.Asp405Gly)	KNL1 (D431G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1314232	NM_144508.5(KNL1):c.1238C>T (p.Pro413Leu)	KNL1 (P413L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128587	NM_144508.5(KNL1):c.1299T>C (p.Cys433=)	KNL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 128588	NM_144508.5(KNL1):c.1378G>T (p.Ala460Ser)	KNL1 (A486S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 128577	NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn)	KNL1 (I524N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign
Select item 597609	NM_144508.5(KNL1):c.1693G>A (p.Glu565Lys)	KNL1 (E591K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128589	NM_144508.5(KNL1):c.1715T>C (p.Met572Thr)	KNL1 (M598T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1220018	NM_144508.5(KNL1):c.1810C>T (p.Gln604Ter)	KNL1 (Q604* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 128578	NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu)	KNL1 (I698L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 210565	NM_144508.5(KNL1):c.2268A>G (p.Ser756=)	KNL1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 128590	NM_144508.5(KNL1):c.2310C>T (p.Val770=)	KNL1	Single nucleotide variant (synonymous variant)	Primary Microcephaly, Recessive +3 more	GBenign
Select item 128591	NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser)	KNL1 (T816S +1 more)	Single nucleotide variant (missense variant)	Primary Microcephaly, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 1308138	NM_144508.5(KNL1):c.2425_2427del (p.Gly809del)	KNL1 (G809del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2579617	NM_144508.5(KNL1):c.2561G>A (p.Gly854Asp)	KNL1 (G854D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128593	NM_144508.5(KNL1):c.2583T>G (p.Thr861=)	KNL1	Single nucleotide variant (synonymous variant)	Primary Microcephaly, Recessive +3 more	GBenign
Select item 128579	NM_144508.5(KNL1):c.2815A>T (p.Met939Leu)	KNL1 (M965L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1199729	NM_144508.5(KNL1):c.2945G>A (p.Ser982Asn)	KNL1 (S1008N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 315855	NM_144508.5(KNL1):c.2949A>G (p.Leu983=)	KNL1	Single nucleotide variant (synonymous variant)	Primary Microcephaly, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 2430656	NM_144508.5(KNL1):c.2960C>T (p.Thr987Ile)	KNL1 (T1013I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663668	NM_144508.5(KNL1):c.3020G>A (p.Arg1007His)	KNL1 (R1007H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128596	NM_144508.5(KNL1):c.3432T>C (p.Asn1144=)	KNL1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 768695	NM_144508.5(KNL1):c.3490C>G (p.Leu1164Val)	KNL1 (L1164V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1700937	NM_144508.5(KNL1):c.3575G>A (p.Gly1192Glu)	KNL1 (G1192E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201481	NM_144508.5(KNL1):c.3579del (p.Gly1194fs)	KNL1 (G1194fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1314233	NM_144508.5(KNL1):c.3599C>T (p.Ser1200Phe)	KNL1 (S1200F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128598	NM_144508.5(KNL1):c.3775A>G (p.Lys1259Glu)	KNL1 (K1285E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 128582	NM_144508.5(KNL1):c.3810G>A (p.Ala1270=)	KNL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2662353	NM_144508.5(KNL1):c.3991A>C (p.Asn1331His)	KNL1 (N1331H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 315859	NM_144508.5(KNL1):c.3999C>T (p.Cys1333=)	KNL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 128599	NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu)	KNL1 (D1416E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 128600	NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala)	KNL1 (T1473A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 128601	NM_144508.5(KNL1):c.4340C>T (p.Thr1447Ile)	KNL1 (T1473I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450906	NM_144508.5(KNL1):c.4428TAT[1] (p.Ile1478del)	KNL1 (I1504del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 434583	NM_144508.5(KNL1):c.4615G>A (p.Ala1539Thr)	KNL1 (A1565T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1878682	NM_144508.5(KNL1):c.4693A>C (p.Asn1565His)	KNL1 (N1565H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034753	NM_144508.5(KNL1):c.4709A>C (p.Glu1570Ala)	KNL1 (E1570A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420525	NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser)	KNL1 (N1617S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 128603	NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg)	KNL1 (K1670R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 739413	NM_144508.5(KNL1):c.5064G>C (p.Pro1688=)	KNL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2579620	NM_144508.5(KNL1):c.5126A>C (p.Gln1709Pro)	KNL1 (Q1709P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128604	NM_144508.5(KNL1):c.5151T>C (p.Pro1717=)	KNL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 210571	NM_144508.5(KNL1):c.5271C>T (p.Cys1757=)	KNL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2505657	NM_144508.5(KNL1):c.5288C>T (p.Thr1763Met)	KNL1 (T1763M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274051	NM_144508.5(KNL1):c.5377-124C>T	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304355	NM_144508.5(KNL1):c.5377-7A>G	KNL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 450905	NM_144508.5(KNL1):c.5383G>A (p.Asp1795Asn)	KNL1 (D1821N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128583	NM_144508.5(KNL1):c.5522G>A (p.Arg1841His)	KNL1 (R1867H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 422642	NM_144508.5(KNL1):c.5542_5543del (p.Gln1848fs)	KNL1 (Q1848fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 489319	NM_144508.5(KNL1):c.5542C>T (p.Gln1848Ter)	KNL1 (Q1874* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2663624	NM_144508.5(KNL1):c.5569G>A (p.Glu1857Lys)	KNL1 (E1857K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200332	NM_144508.5(KNL1):c.5583+94T>A	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1702660	NM_144508.5(KNL1):c.5657C>T (p.Pro1886Leu)	KNL1 (P1886L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292996	NM_144508.5(KNL1):c.5682+116dup	KNL1	Duplication (intron variant)	not provided	GBenign
Select item 1220312	NM_144508.5(KNL1):c.5682+115_5682+116dup	KNL1	Duplication (intron variant)	not provided	GLikely benign
Select item 1212380	NM_144508.5(KNL1):c.5682+100C>T	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220165	NM_144508.5(KNL1):c.5682+150dup	KNL1	Duplication (intron variant)	not provided	GLikely benign
Select item 1235004	NM_144508.5(KNL1):c.5683-181C>T	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198760	NM_144508.5(KNL1):c.5798+320G>A	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217072	NM_144508.5(KNL1):c.5799-187T>G	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289443	NM_144508.5(KNL1):c.5799-77del	KNL1	Deletion (intron variant)	not provided	GBenign
Select item 732667	NM_144508.5(KNL1):c.5799-9G>A	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign/Likely benign
Select item 1292995	NM_144508.5(KNL1):c.5890-207A>G	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229955	NM_144508.5(KNL1):c.5890-127C>T	KNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218595	NM_144508.5(KNL1):c.5890-41G>A	KNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205137	NM_144508.5(KNL1):c.5929T>C (p.Cys1977Arg)	KNL1 (C1977R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573703	NM_144508.5(KNL1):c.5965G>A (p.Gly1989Arg)	KNL1 (G1989R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271475	NM_144508.5(KNL1):c.6006+28_6006+31del	KNL1	Deletion (intron variant)	not provided	GBenign

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