NM_144508.5(KNL1):c.6198A>G (p.Glu2066=) |
single nucleotide variant |
not provided [RCV000891900] |
Chr15:40650569 [GRCh38] Chr15:40942767 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6045G>A (p.Met2015Ile) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000032912] |
Chr15:40647025 [GRCh38] Chr15:40939223 [GRCh37] Chr15:15q15.1 |
pathogenic |
NM_144508.5(KNL1):c.5383G>A (p.Asp1795Asn) |
single nucleotide variant |
not provided [RCV000523237] |
Chr15:40628076 [GRCh38] Chr15:40920274 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4428TAT[1] (p.Ile1478del) |
microsatellite |
not provided [RCV000519787] |
Chr15:40624692..40624694 [GRCh38] Chr15:40916890..40916892 [GRCh37] Chr15:15q15.1 |
uncertain significance |
GRCh38/hg38 15q14-15.1(chr15:36531993-40787538)x3 |
copy number gain |
See cases [RCV000052341] |
Chr15:36531993..40787538 [GRCh38] Chr15:36824194..41079736 [GRCh37] Chr15:34611486..38867028 [NCBI36] Chr15:15q14-15.1 |
pathogenic |
NM_170589.4(CASC5):c.4429C>T (p.Pro1477Ser) |
single nucleotide variant |
Malignant melanoma [RCV000062856] |
Chr15:40624615 [GRCh38] Chr15:40916813 [GRCh37] Chr15:38704105 [NCBI36] Chr15:15q15.1 |
not provided |
NM_144508.5(KNL1):c.-2_1del (p.Met1del) |
deletion |
not provided [RCV000116548] |
Chr15:40602928..40602930 [GRCh38] Chr15:40895126..40895128 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6094+4_6094+8del |
deletion |
not provided [RCV000116577] |
Chr15:40647075..40647079 [GRCh38] Chr15:40939273..40939277 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002512514]|Microcephaly 4, primary, autosomal recessive [RCV000985143]|not provided [RCV000116551] |
Chr15:40623079 [GRCh38] Chr15:40915277 [GRCh37] Chr15:15q15.1 |
likely pathogenic|uncertain significance |
NM_144508.5(KNL1):c.253A>G (p.Thr85Ala) |
single nucleotide variant |
not provided [RCV000116553] |
Chr15:40611480 [GRCh38] Chr15:40903678 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5522G>A (p.Arg1841His) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118918]|not provided [RCV000116555] |
Chr15:40628617 [GRCh38] Chr15:40920815 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5631C>T (p.Leu1877=) |
single nucleotide variant |
KNL1-related condition [RCV003905113]|Microcephaly 4, primary, autosomal recessive [RCV000386208]|not provided [RCV000910654]|not specified [RCV000116556] |
Chr15:40629320 [GRCh38] Chr15:40921518 [GRCh37] Chr15:15q15.1 |
benign|likely benign|uncertain significance |
NM_144508.5(KNL1):c.2784T>C (p.Thr928=) |
single nucleotide variant |
not provided [RCV000116566] |
Chr15:40623048 [GRCh38] Chr15:40915246 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6334G>A (p.Val2112Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002528208]|Microcephaly 4, primary, autosomal recessive [RCV001115958]|not provided [RCV000116578] |
Chr15:40652024 [GRCh38] Chr15:40944222 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117106]|not provided [RCV000947612]|not specified [RCV000116549] |
Chr15:40621757 [GRCh38] Chr15:40913955 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu) |
single nucleotide variant |
not provided [RCV000888837]|not specified [RCV000116550] |
Chr15:40622278 [GRCh38] Chr15:40914476 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.250+556G>A |
single nucleotide variant |
not provided [RCV001618267]|not specified [RCV000116552] |
Chr15:40610853 [GRCh38] Chr15:40903051 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000386466]|not provided [RCV000957257]|not specified [RCV000116554] |
Chr15:40624074 [GRCh38] Chr15:40916272 [GRCh37] Chr15:15q15.1 |
benign|likely benign|uncertain significance |
NM_144508.5(KNL1):c.1129A>G (p.Ile377Val) |
single nucleotide variant |
not provided [RCV000879115]|not specified [RCV000500192] |
Chr15:40621393 [GRCh38] Chr15:40913591 [GRCh37] Chr15:15q15.1 |
benign|likely benign|uncertain significance |
NM_144508.5(KNL1):c.128G>C (p.Arg43Thr) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001554577]|Primary Microcephaly, Recessive [RCV000371367]|not provided [RCV001711382]|not specified [RCV000116558] |
Chr15:40606445 [GRCh38] Chr15:40898643 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.1299T>C (p.Cys433=) |
single nucleotide variant |
not provided [RCV000948950]|not specified [RCV000116559] |
Chr15:40621563 [GRCh38] Chr15:40913761 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.1378G>T (p.Ala460Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001554580]|Primary Microcephaly, Recessive [RCV000280144]|not provided [RCV001682803]|not specified [RCV000116560] |
Chr15:40621642 [GRCh38] Chr15:40913840 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.1715T>C (p.Met572Thr) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001554581]|Primary Microcephaly, Recessive [RCV000300029]|not provided [RCV001711383]|not specified [RCV000116561] |
Chr15:40621979 [GRCh38] Chr15:40914177 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.2310C>T (p.Val770=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001554582]|Primary Microcephaly, Recessive [RCV000369685]|not provided [RCV001636657]|not specified [RCV000116562] |
Chr15:40622574 [GRCh38] Chr15:40914772 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) |
single nucleotide variant |
Primary Microcephaly, Recessive [RCV000306942]|not provided [RCV001711279]|not specified [RCV000116563] |
Chr15:40622633 [GRCh38] Chr15:40914831 [GRCh37] Chr15:15q15.1 |
benign|likely benign|uncertain significance |
NM_144508.5(KNL1):c.245T>C (p.Met82Thr) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000381730]|not provided [RCV001682804]|not specified [RCV000116564] |
Chr15:40610292 [GRCh38] Chr15:40902490 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.2583T>G (p.Thr861=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000989291]|Primary Microcephaly, Recessive [RCV000364844]|not provided [RCV001675615]|not specified [RCV000116565] |
Chr15:40622847 [GRCh38] Chr15:40915045 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.259A>G (p.Thr87Ala) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001554578]|Primary Microcephaly, Recessive [RCV000327262]|not provided [RCV001598622]|not specified [RCV000116567] |
Chr15:40611486 [GRCh38] Chr15:40903684 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.3432T>C (p.Asn1144=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001554584]|Primary Microcephaly, Recessive [RCV000317334]|not provided [RCV001636658]|not specified [RCV000116568] |
Chr15:40623696 [GRCh38] Chr15:40915894 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.3749C>T (p.Ala1250Val) |
single nucleotide variant |
not provided [RCV000116569] |
Chr15:40624013 [GRCh38] Chr15:40916211 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3775A>G (p.Lys1259Glu) |
single nucleotide variant |
Primary Microcephaly, Recessive [RCV000317990]|not provided [RCV001657703]|not specified [RCV000116570] |
Chr15:40624039 [GRCh38] Chr15:40916237 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001120786]|not provided [RCV000959136]|not specified [RCV000116571] |
Chr15:40624434 [GRCh38] Chr15:40916632 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala) |
single nucleotide variant |
Primary Microcephaly, Recessive [RCV000288975]|not provided [RCV001711384]|not specified [RCV000116572] |
Chr15:40624603 [GRCh38] Chr15:40916801 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.4340C>T (p.Thr1447Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002528207]|not provided [RCV000116573] |
Chr15:40624604 [GRCh38] Chr15:40916802 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4379T>C (p.Ile1460Thr) |
single nucleotide variant |
not provided [RCV000116574] |
Chr15:40624643 [GRCh38] Chr15:40916841 [GRCh37] Chr15:15q15.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg) |
single nucleotide variant |
Primary Microcephaly, Recessive [RCV000305903]|not provided [RCV000959186]|not specified [RCV000116575] |
Chr15:40625195 [GRCh38] Chr15:40917393 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.5151T>C (p.Pro1717=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000360433]|not provided [RCV001647129]|not specified [RCV000116576] |
Chr15:40625415 [GRCh38] Chr15:40917613 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.727A>G (p.Ile243Val) |
single nucleotide variant |
Primary Microcephaly, Recessive [RCV000377331]|not provided [RCV000959185]|not specified [RCV000116579] |
Chr15:40620991 [GRCh38] Chr15:40913189 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.89C>T (p.Pro30Leu) |
single nucleotide variant |
not provided [RCV000116580] |
Chr15:40606406 [GRCh38] Chr15:40898604 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) |
single nucleotide variant |
KNL1-related condition [RCV003937535]|Microcephaly 4, primary, autosomal recessive [RCV000282097]|not provided [RCV000171230] |
Chr15:40623898 [GRCh38] Chr15:40916096 [GRCh37] Chr15:15q15.1 |
likely pathogenic|likely benign|uncertain significance |
NM_144508.5(KNL1):c.5184dup (p.Ile1729fs) |
duplication |
Microcephaly 4, primary, autosomal recessive [RCV000201695] |
Chr15:40625447..40625448 [GRCh38] Chr15:40917645..40917646 [GRCh37] Chr15:15q15.1 |
pathogenic |
NM_144508.5(KNL1):c.6095-161dup |
duplication |
not provided [RCV001564825] |
Chr15:40650125..40650126 [GRCh38] Chr15:40942323..40942324 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.322+123dup |
duplication |
Microcephaly 4, primary, autosomal recessive [RCV001554579]|not provided [RCV001694116] |
Chr15:40615500..40615501 [GRCh38] Chr15:40907698..40907699 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.250+2T>C |
single nucleotide variant |
not provided [RCV001310745] |
Chr15:40610299 [GRCh38] Chr15:40902497 [GRCh37] Chr15:15q15.1 |
uncertain significance |
GRCh38/hg38 15q15.1(chr15:40581118-40720039)x1 |
copy number loss |
See cases [RCV000141927] |
Chr15:40581118..40720039 [GRCh38] Chr15:40873316..41012237 [GRCh37] Chr15:38660608..38799529 [NCBI36] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3633C>T (p.Ile1211=) |
single nucleotide variant |
not specified [RCV000192845] |
Chr15:40623897 [GRCh38] Chr15:40916095 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6164C>T (p.Ala2055Val) |
single nucleotide variant |
not specified [RCV000192906] |
Chr15:40650370 [GRCh38] Chr15:40942568 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3474A>G (p.Thr1158=) |
single nucleotide variant |
not specified [RCV000193788] |
Chr15:40623738 [GRCh38] Chr15:40915936 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5974G>T (p.Ala1992Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001335513]|not specified [RCV000193802] |
Chr15:40645740 [GRCh38] Chr15:40937938 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6425C>T (p.Pro2142Leu) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117412]|not specified [RCV000193918] |
Chr15:40654918 [GRCh38] Chr15:40947116 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3706G>T (p.Ala1236Ser) |
single nucleotide variant |
not specified [RCV000194091] |
Chr15:40623970 [GRCh38] Chr15:40916168 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.905A>C (p.Asn302Thr) |
single nucleotide variant |
not specified [RCV000194411] |
Chr15:40621169 [GRCh38] Chr15:40913367 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2268A>G (p.Ser756=) |
single nucleotide variant |
not provided [RCV000971623]|not specified [RCV000194707] |
Chr15:40622532 [GRCh38] Chr15:40914730 [GRCh37] Chr15:15q15.1 |
benign|likely benign|uncertain significance |
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118914]|not provided [RCV000884611]|not specified [RCV000194761] |
Chr15:40625535 [GRCh38] Chr15:40917733 [GRCh37] Chr15:15q15.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_144508.5(KNL1):c.3517T>G (p.Phe1173Val) |
single nucleotide variant |
not specified [RCV000194812] |
Chr15:40623781 [GRCh38] Chr15:40915979 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000201551]|not provided [RCV000960686]|not specified [RCV000194949] |
Chr15:40654975 [GRCh38] Chr15:40947173 [GRCh37] Chr15:15q15.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115952]|not provided [RCV000886922]|not specified [RCV000195230] |
Chr15:40647014 [GRCh38] Chr15:40939212 [GRCh37] Chr15:15q15.1 |
benign|likely benign|uncertain significance |
NM_144508.5(KNL1):c.5885_5888del (p.Lys1962fs) |
deletion |
not specified [RCV000192766] |
Chr15:40645082..40645085 [GRCh38] Chr15:40937280..40937283 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.694del (p.Asp232fs) |
deletion |
Microcephaly 4, primary, autosomal recessive [RCV000193385] |
Chr15:40620958 [GRCh38] Chr15:40913156 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.221T>C (p.Met74Thr) |
single nucleotide variant |
not specified [RCV000193651] |
Chr15:40610268 [GRCh38] Chr15:40902466 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2728A>G (p.Arg910Gly) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001554583]|Primary Microcephaly, Recessive [RCV000320581] |
Chr15:40622992 [GRCh38] Chr15:40915190 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.4393G>T (p.Val1465Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002520949]|Microcephaly 4, primary, autosomal recessive [RCV000343921] |
Chr15:40624657 [GRCh38] Chr15:40916855 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2634T>C (p.Tyr878=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000265526] |
Chr15:40622898 [GRCh38] Chr15:40915096 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.812C>G (p.Thr271Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000282863]|not provided [RCV000908421] |
Chr15:40621076 [GRCh38] Chr15:40913274 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.*201A>G |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000288592] |
Chr15:40662389 [GRCh38] Chr15:40954587 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1291T>C (p.Ser431Pro) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000378550] |
Chr15:40621555 [GRCh38] Chr15:40913753 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3881C>T (p.Ala1294Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000292219] |
Chr15:40624145 [GRCh38] Chr15:40916343 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.75+6A>G |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000311784]|not provided [RCV000585099] |
Chr15:40605155 [GRCh38] Chr15:40897353 [GRCh37] Chr15:15q15.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_144508.5(KNL1):c.-17-15G>A |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000275428] |
Chr15:40602900 [GRCh38] Chr15:40895098 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.144T>C (p.Asn48=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000276825] |
Chr15:40608855 [GRCh38] Chr15:40901053 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6497C>G (p.Pro2166Arg) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000296604]|not provided [RCV001764284] |
Chr15:40657054 [GRCh38] Chr15:40949252 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5538A>G (p.Glu1846=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000262586]|not provided [RCV000890294] |
Chr15:40628633 [GRCh38] Chr15:40920831 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile) |
single nucleotide variant |
KNL1-related condition [RCV003910189]|Primary Microcephaly, Recessive [RCV000342564]|not provided [RCV000965971]|not specified [RCV000502331] |
Chr15:40621497 [GRCh38] Chr15:40913695 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.2323G>T (p.Gly775Cys) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000391466] |
Chr15:40622587 [GRCh38] Chr15:40914785 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2012A>C (p.Asn671Thr) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000391456] |
Chr15:40622276 [GRCh38] Chr15:40914474 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.606C>T (p.Ser202=) |
single nucleotide variant |
KNL1-related condition [RCV003930138]|not provided [RCV000308400] |
Chr15:40620870 [GRCh38] Chr15:40913068 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.5235G>T (p.Glu1745Asp) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000261022] |
Chr15:40625499 [GRCh38] Chr15:40917697 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000371872]|not provided [RCV003884466] |
Chr15:40623837 [GRCh38] Chr15:40916035 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.165C>T (p.Asn55=) |
single nucleotide variant |
Primary Microcephaly, Recessive [RCV000327090]|not provided [RCV000907026]|not specified [RCV000503377] |
Chr15:40608876 [GRCh38] Chr15:40901074 [GRCh37] Chr15:15q15.1 |
benign|likely benign|uncertain significance |
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002520948]|Microcephaly 4, primary, autosomal recessive [RCV000350140]|not provided [RCV003884465]|not specified [RCV000504113] |
Chr15:40622032 [GRCh38] Chr15:40914230 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.4000C>T (p.Pro1334Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000399843] |
Chr15:40624264 [GRCh38] Chr15:40916462 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.4483A>C (p.Ser1495Arg) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000400110] |
Chr15:40624747 [GRCh38] Chr15:40916945 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3999C>T (p.Cys1333=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000351848]|not provided [RCV000908097]|not specified [RCV003151024] |
Chr15:40624263 [GRCh38] Chr15:40916461 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.1636A>G (p.Arg546Gly) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000401619] |
Chr15:40621900 [GRCh38] Chr15:40914098 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5626C>G (p.Leu1876Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000331717] |
Chr15:40629315 [GRCh38] Chr15:40921513 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6594+10G>A |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000333054]|not provided [RCV000925364] |
Chr15:40657161 [GRCh38] Chr15:40949359 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.-55G>A |
single nucleotide variant |
Primary Microcephaly, Recessive [RCV000356237] |
Chr15:40594355 [GRCh38] Chr15:40886553 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5433A>T (p.Ile1811=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000357077]|not provided [RCV000914131] |
Chr15:40628126 [GRCh38] Chr15:40920324 [GRCh37] Chr15:15q15.1 |
benign|likely benign|uncertain significance |
NM_144508.5(KNL1):c.1560C>T (p.Leu520=) |
single nucleotide variant |
KNL1-related condition [RCV003969882]|Microcephaly 4, primary, autosomal recessive [RCV000335160] |
Chr15:40621824 [GRCh38] Chr15:40914022 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.6594+14G>C |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000382983] |
Chr15:40657165 [GRCh38] Chr15:40949363 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2260A>G (p.Ile754Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000315064] |
Chr15:40622524 [GRCh38] Chr15:40914722 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4619G>A (p.Gly1540Glu) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000359488]|not provided [RCV000906316] |
Chr15:40624883 [GRCh38] Chr15:40917081 [GRCh37] Chr15:15q15.1 |
benign|uncertain significance |
NM_144508.5(KNL1):c.2963T>A (p.Val988Glu) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000266829] |
Chr15:40623227 [GRCh38] Chr15:40915425 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2949A>G (p.Leu983=) |
single nucleotide variant |
KNL1-related condition [RCV003920323]|Primary Microcephaly, Recessive [RCV000361242]|not provided [RCV000895517] |
Chr15:40623213 [GRCh38] Chr15:40915411 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.284+173A>T |
single nucleotide variant |
not provided [RCV001544855] |
Chr15:40611684 [GRCh38] Chr15:40903882 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.-17-53G>T |
single nucleotide variant |
not provided [RCV001567152] |
Chr15:40602862 [GRCh38] Chr15:40895060 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000585821] |
Chr15:40652039 [GRCh38] Chr15:40944237 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.5401G>A (p.Asp1801Asn) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000316271] |
Chr15:40628094 [GRCh38] Chr15:40920292 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4817A>T (p.His1606Leu) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000406737] |
Chr15:40625081 [GRCh38] Chr15:40917279 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4550A>T (p.Asn1517Ile) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000309379] |
Chr15:40624814 [GRCh38] Chr15:40917012 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.-143G>A |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000301412] |
Chr15:40594267 [GRCh38] Chr15:40886465 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5853C>A (p.Asn1951Lys) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001120881] |
Chr15:40645051 [GRCh38] Chr15:40937249 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6416-13T>G |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV002259355]|not provided [RCV000578840] |
Chr15:40654896 [GRCh38] Chr15:40947094 [GRCh37] Chr15:15q15.1 |
likely pathogenic|uncertain significance |
NM_144508.5(KNL1):c.375+11A>C |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001120596] |
Chr15:40619022 [GRCh38] Chr15:40911220 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.605C>G (p.Ser202Cys) |
single nucleotide variant |
not provided [RCV000733773] |
Chr15:40620869 [GRCh38] Chr15:40913067 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1693G>A (p.Glu565Lys) |
single nucleotide variant |
not provided [RCV000733784] |
Chr15:40621957 [GRCh38] Chr15:40914155 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1214A>G (p.Asp405Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002524673]|Microcephaly 4, primary, autosomal recessive [RCV001115683]|not provided [RCV000416218] |
Chr15:40621478 [GRCh38] Chr15:40913676 [GRCh37] Chr15:15q15.1 |
uncertain significance |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_144508.5(KNL1):c.5542_5543del (p.Gln1848fs) |
microsatellite |
not provided [RCV000486510] |
Chr15:40628635..40628636 [GRCh38] Chr15:40920833..40920834 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.6796C>G (p.Pro2266Ala) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000765206]|not provided [RCV000766987]|not specified [RCV000482704] |
Chr15:40659421 [GRCh38] Chr15:40951619 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6304del (p.Asp2102fs) |
deletion |
not provided [RCV000479917] |
Chr15:40651561 [GRCh38] Chr15:40943759 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115848]|not provided [RCV000479054] |
Chr15:40625036 [GRCh38] Chr15:40917234 [GRCh37] Chr15:15q15.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_144508.5(KNL1):c.6284A>G (p.Asn2095Ser) |
single nucleotide variant |
not specified [RCV000500934] |
Chr15:40651542 [GRCh38] Chr15:40943740 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_170589.4(KNL1):c.*2_*3ins13 |
insertion |
not specified [RCV000501125] |
Chr15:40662190..40662191 [GRCh38] Chr15:40954388..40954389 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs) |
indel |
Microcephaly 4, primary, autosomal recessive [RCV000501352] |
Chr15:40625009..40625010 [GRCh38] Chr15:40917207..40917208 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.977C>T (p.Thr326Ile) |
single nucleotide variant |
not specified [RCV000503568] |
Chr15:40621241 [GRCh38] Chr15:40913439 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2311G>A (p.Val771Ile) |
single nucleotide variant |
not provided [RCV000900271]|not specified [RCV000501475] |
Chr15:40622575 [GRCh38] Chr15:40914773 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.910C>T (p.Arg304Trp) |
single nucleotide variant |
not specified [RCV000501831] |
Chr15:40621174 [GRCh38] Chr15:40913372 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001120787]|not provided [RCV000911687]|not specified [RCV000503892] |
Chr15:40624495 [GRCh38] Chr15:40916693 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.*8G>T |
single nucleotide variant |
KNL1-related condition [RCV003960153]|not specified [RCV000501935] |
Chr15:40662196 [GRCh38] Chr15:40954394 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.*7G>C |
single nucleotide variant |
KNL1-related condition [RCV003960152]|not specified [RCV000499467] |
Chr15:40662195 [GRCh38] Chr15:40954393 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6172+5T>C |
single nucleotide variant |
not specified [RCV000504297] |
Chr15:40650383 [GRCh38] Chr15:40942581 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV002275042]|not specified [RCV000499721] |
Chr15:40622234 [GRCh38] Chr15:40914432 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4615G>A (p.Ala1539Thr) |
single nucleotide variant |
not provided [RCV002286744]|not specified [RCV000500245] |
Chr15:40624879 [GRCh38] Chr15:40917077 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4903C>T (p.Leu1635=) |
single nucleotide variant |
not specified [RCV000502478] |
Chr15:40625167 [GRCh38] Chr15:40917365 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.1336A>G (p.Met446Val) |
single nucleotide variant |
not specified [RCV000502671] |
Chr15:40621600 [GRCh38] Chr15:40913798 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.*4_*5insAT |
insertion |
KNL1-related condition [RCV003962369]|not specified [RCV000502904] |
Chr15:40662192..40662193 [GRCh38] Chr15:40954390..40954391 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.251-9T>C |
single nucleotide variant |
not provided [RCV000911576]|not specified [RCV000500676] |
Chr15:40611469 [GRCh38] Chr15:40903667 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.4382A>T (p.Asn1461Ile) |
single nucleotide variant |
not specified [RCV000503103] |
Chr15:40624646 [GRCh38] Chr15:40916844 [GRCh37] Chr15:15q15.1 |
uncertain significance |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_144508.5(KNL1):c.5542C>T (p.Gln1848Ter) |
single nucleotide variant |
not provided [RCV000579193] |
Chr15:40628637 [GRCh38] Chr15:40920835 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.6212+5G>A |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115955]|not provided [RCV000514854] |
Chr15:40650588 [GRCh38] Chr15:40942786 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.5130dup (p.Ile1711fs) |
duplication |
not provided [RCV000514857] |
Chr15:40625393..40625394 [GRCh38] Chr15:40917591..40917592 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.1521A>G (p.Gln507=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV000585836] |
Chr15:40621785 [GRCh38] Chr15:40913983 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant |
complex |
Spindle cell sarcoma [RCV000714282] |
Chr15:34640169..42054561 [GRCh37] Chr15:15q14-15.1 |
pathogenic |
Single allele |
duplication |
not provided [RCV000677926] |
Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
NM_144508.5(KNL1):c.3579del (p.Gly1194fs) |
deletion |
not provided [RCV001566855] |
Chr15:40623840 [GRCh38] Chr15:40916038 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.284+33A>T |
single nucleotide variant |
not provided [RCV001537535] |
Chr15:40611544 [GRCh38] Chr15:40903742 [GRCh37] Chr15:15q15.1 |
benign |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_144508.5(KNL1):c.5798+7A>G |
single nucleotide variant |
not provided [RCV000893233] |
Chr15:40641034 [GRCh38] Chr15:40933232 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6007-109del |
deletion |
not provided [RCV001644291] |
Chr15:40646857 [GRCh38] Chr15:40939055 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.2945G>A (p.Ser982Asn) |
single nucleotide variant |
not provided [RCV001564500] |
Chr15:40623209 [GRCh38] Chr15:40915407 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6173-13del |
deletion |
Microcephaly 4, primary, autosomal recessive [RCV001554585]|not provided [RCV001658292] |
Chr15:40650518 [GRCh38] Chr15:40942716 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6006+28_6006+31del |
deletion |
not provided [RCV001681524] |
Chr15:40645797..40645800 [GRCh38] Chr15:40937995..40937998 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.519G>A (p.Lys173=) |
single nucleotide variant |
not provided [RCV000964147] |
Chr15:40620783 [GRCh38] Chr15:40912981 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6837-222G>C |
single nucleotide variant |
not provided [RCV001569663] |
Chr15:40661852 [GRCh38] Chr15:40954050 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5682+100C>T |
single nucleotide variant |
not provided [RCV001584971] |
Chr15:40629471 [GRCh38] Chr15:40921669 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6007-206_6007-205insT |
insertion |
not provided [RCV001577831] |
Chr15:40646781..40646782 [GRCh38] Chr15:40938979..40938980 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6315-80del |
deletion |
not provided [RCV001583714] |
Chr15:40651925 [GRCh38] Chr15:40944123 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.3490C>G (p.Leu1164Val) |
single nucleotide variant |
not provided [RCV000947613] |
Chr15:40623754 [GRCh38] Chr15:40915952 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.6173-10G>T |
single nucleotide variant |
not provided [RCV000949375] |
Chr15:40650534 [GRCh38] Chr15:40942732 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.497T>C (p.Leu166Ser) |
single nucleotide variant |
not provided [RCV000967352] |
Chr15:40620761 [GRCh38] Chr15:40912959 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6315-10C>T |
single nucleotide variant |
not provided [RCV000971227] |
Chr15:40651995 [GRCh38] Chr15:40944193 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.3405C>T (p.Ala1135=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118822]|not provided [RCV000904849] |
Chr15:40623669 [GRCh38] Chr15:40915867 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.5613G>A (p.Arg1871=) |
single nucleotide variant |
not provided [RCV000924623] |
Chr15:40629302 [GRCh38] Chr15:40921500 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6879G>A (p.Glu2293=) |
single nucleotide variant |
not provided [RCV000906612] |
Chr15:40662116 [GRCh38] Chr15:40954314 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5682+14_5682+28del |
deletion |
not provided [RCV000968289] |
Chr15:40629381..40629395 [GRCh38] Chr15:40921579..40921593 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.1817A>G (p.Lys606Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002550675]|Microcephaly 4, primary, autosomal recessive [RCV001120684]|not provided [RCV000995295] |
Chr15:40622081 [GRCh38] Chr15:40914279 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5799-7A>G |
single nucleotide variant |
not provided [RCV000900272] |
Chr15:40644990 [GRCh38] Chr15:40937188 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5817G>A (p.Ser1939=) |
single nucleotide variant |
not provided [RCV000950237] |
Chr15:40645015 [GRCh38] Chr15:40937213 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.666G>A (p.Leu222=) |
single nucleotide variant |
not provided [RCV000898290] |
Chr15:40620930 [GRCh38] Chr15:40913128 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6132T>C (p.Pro2044=) |
single nucleotide variant |
not provided [RCV000918710] |
Chr15:40650338 [GRCh38] Chr15:40942536 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.284+7A>G |
single nucleotide variant |
not provided [RCV000921274] |
Chr15:40611518 [GRCh38] Chr15:40903716 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5838T>C (p.Val1946=) |
single nucleotide variant |
not provided [RCV000940388] |
Chr15:40645036 [GRCh38] Chr15:40937234 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5064G>C (p.Pro1688=) |
single nucleotide variant |
KNL1-related condition [RCV003923222]|Microcephaly 4, primary, autosomal recessive [RCV001117287]|not provided [RCV000915380] |
Chr15:40625328 [GRCh38] Chr15:40917526 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.6837-4C>G |
single nucleotide variant |
not provided [RCV000896524] |
Chr15:40662070 [GRCh38] Chr15:40954268 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.1794C>T (p.Thr598=) |
single nucleotide variant |
KNL1-related condition [RCV003922959]|not provided [RCV000900788] |
Chr15:40622058 [GRCh38] Chr15:40914256 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6837-3C>T |
single nucleotide variant |
not provided [RCV000895025] |
Chr15:40662071 [GRCh38] Chr15:40954269 [GRCh37] Chr15:15q15.1 |
likely benign |
GRCh37/hg19 15q15.1(chr15:40944610-41001292)x3 |
copy number gain |
not provided [RCV000849664] |
Chr15:40944610..41001292 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1523T>A (p.Ile508Lys) |
single nucleotide variant |
KNL1-related condition [RCV003945829]|Microcephaly 4, primary, autosomal recessive [RCV001118747] |
Chr15:40621787 [GRCh38] Chr15:40913985 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.-100C>G |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117020] |
Chr15:40594310 [GRCh38] Chr15:40886508 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.949G>A (p.Asp317Asn) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115681] |
Chr15:40621213 [GRCh38] Chr15:40913411 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2347G>A (p.Gly783Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115762] |
Chr15:40622611 [GRCh38] Chr15:40914809 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4573A>G (p.Asn1525Asp) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115847] |
Chr15:40624837 [GRCh38] Chr15:40917035 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5289G>A (p.Thr1763=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118916] |
Chr15:40625553 [GRCh38] Chr15:40917751 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2315T>C (p.Ile772Thr) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115761] |
Chr15:40622579 [GRCh38] Chr15:40914777 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5391T>A (p.His1797Gln) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118917] |
Chr15:40628084 [GRCh38] Chr15:40920282 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.*28A>G |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117414] |
Chr15:40662216 [GRCh38] Chr15:40954414 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4902T>C (p.Ser1634=) |
single nucleotide variant |
not provided [RCV000897444] |
Chr15:40625166 [GRCh38] Chr15:40917364 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5607A>C (p.Thr1869=) |
single nucleotide variant |
KNL1-related condition [RCV003895581]|Microcephaly 4, primary, autosomal recessive [RCV001120878]|not provided [RCV000917918] |
Chr15:40629296 [GRCh38] Chr15:40921494 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.6485-10C>T |
single nucleotide variant |
not provided [RCV000964534] |
Chr15:40657032 [GRCh38] Chr15:40949230 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.3861T>C (p.Phe1287=) |
single nucleotide variant |
not provided [RCV000940676] |
Chr15:40624125 [GRCh38] Chr15:40916323 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5560A>G (p.Ile1854Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001120877] |
Chr15:40628655 [GRCh38] Chr15:40920853 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2676T>C (p.Asp892=) |
single nucleotide variant |
KNL1-related condition [RCV003953491]|Microcephaly 4, primary, autosomal recessive [RCV001117197] |
Chr15:40622940 [GRCh38] Chr15:40915138 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.4954A>G (p.Ile1652Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117286] |
Chr15:40625218 [GRCh38] Chr15:40917416 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.438A>C (p.Ser146=) |
single nucleotide variant |
not provided [RCV000975973] |
Chr15:40620702 [GRCh38] Chr15:40912900 [GRCh37] Chr15:15q15.1 |
likely benign |
GRCh37/hg19 15q15.1(chr15:40873315-40936676)x3 |
copy number gain |
not provided [RCV000846821] |
Chr15:40873315..40936676 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6125del (p.Asn2042fs) |
deletion |
not provided [RCV001009176] |
Chr15:40650327 [GRCh38] Chr15:40942525 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.1203T>C (p.Thr401=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115682] |
Chr15:40621467 [GRCh38] Chr15:40913665 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6215A>G (p.Asn2072Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115957] |
Chr15:40651473 [GRCh38] Chr15:40943671 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1509A>G (p.Gln503=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118746] |
Chr15:40621773 [GRCh38] Chr15:40913971 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.-13G>T |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117021] |
Chr15:40602919 [GRCh38] Chr15:40895117 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5583+94T>A |
single nucleotide variant |
not provided [RCV001565321] |
Chr15:40628772 [GRCh38] Chr15:40920970 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6872C>T (p.Pro2291Leu) |
single nucleotide variant |
not provided [RCV001570853] |
Chr15:40662109 [GRCh38] Chr15:40954307 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.5965G>A (p.Gly1989Arg) |
single nucleotide variant |
not provided [RCV003318039] |
Chr15:40645731 [GRCh38] Chr15:40937929 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.75+58A>G |
single nucleotide variant |
not provided [RCV001549850] |
Chr15:40605207 [GRCh38] Chr15:40897405 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.251-356del |
deletion |
not provided [RCV001675425] |
Chr15:40611109 [GRCh38] Chr15:40903307 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6713+232G>A |
single nucleotide variant |
not provided [RCV001550413] |
Chr15:40657705 [GRCh38] Chr15:40949903 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.36-136A>G |
single nucleotide variant |
not provided [RCV001594079] |
Chr15:40604974 [GRCh38] Chr15:40897172 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.376-227A>G |
single nucleotide variant |
not provided [RCV001639804] |
Chr15:40620413 [GRCh38] Chr15:40912611 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.5377-124C>T |
single nucleotide variant |
not provided [RCV001685039] |
Chr15:40627946 [GRCh38] Chr15:40920144 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6416-213C>T |
single nucleotide variant |
not provided [RCV001557812] |
Chr15:40654696 [GRCh38] Chr15:40946894 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5798+320G>A |
single nucleotide variant |
not provided [RCV001563028] |
Chr15:40641347 [GRCh38] Chr15:40933545 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6213-58A>C |
single nucleotide variant |
not provided [RCV001564555] |
Chr15:40651413 [GRCh38] Chr15:40943611 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6213-61T>C |
single nucleotide variant |
not provided [RCV001545803] |
Chr15:40651410 [GRCh38] Chr15:40943608 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6595-27C>T |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001554587]|not provided [RCV001619982] |
Chr15:40657328 [GRCh38] Chr15:40949526 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.5929T>C (p.Cys1977Arg) |
single nucleotide variant |
not provided [RCV001571703] |
Chr15:40645695 [GRCh38] Chr15:40937893 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.136-86del |
deletion |
not provided [RCV001670585] |
Chr15:40608746 [GRCh38] Chr15:40900944 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.5682+150dup |
duplication |
not provided [RCV001590840] |
Chr15:40629495..40629496 [GRCh38] Chr15:40921693..40921694 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.-17-278C>A |
single nucleotide variant |
not provided [RCV001621895] |
Chr15:40602637 [GRCh38] Chr15:40894835 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6043A>C (p.Met2015Leu) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115953]|not provided [RCV000905007] |
Chr15:40647023 [GRCh38] Chr15:40939221 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.36-5T>C |
single nucleotide variant |
not provided [RCV000918381] |
Chr15:40605105 [GRCh38] Chr15:40897303 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.2600A>G (p.Asp867Gly) |
single nucleotide variant |
not provided [RCV000907850] |
Chr15:40622864 [GRCh38] Chr15:40915062 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5799-9G>A |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001120880]|not provided [RCV000907851] |
Chr15:40644988 [GRCh38] Chr15:40937186 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.6131C>T (p.Pro2044Leu) |
single nucleotide variant |
KNL1-related condition [RCV003968346]|Microcephaly 4, primary, autosomal recessive [RCV001115954]|not provided [RCV000907853] |
Chr15:40650337 [GRCh38] Chr15:40942535 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.451A>G (p.Met151Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV002495378]|not provided [RCV000888780]|not specified [RCV001726364] |
Chr15:40620715 [GRCh38] Chr15:40912913 [GRCh37] Chr15:15q15.1 |
benign|likely benign |
NM_144508.5(KNL1):c.6381G>A (p.Thr2127=) |
single nucleotide variant |
not provided [RCV000914820] |
Chr15:40652071 [GRCh38] Chr15:40944269 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.2178A>G (p.Leu726=) |
single nucleotide variant |
not provided [RCV000920023] |
Chr15:40622442 [GRCh38] Chr15:40914640 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5112C>T (p.Asn1704=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117288]|not provided [RCV000915261] |
Chr15:40625376 [GRCh38] Chr15:40917574 [GRCh37] Chr15:15q15.1 |
benign|uncertain significance |
NM_144508.5(KNL1):c.456C>T (p.Asp152=) |
single nucleotide variant |
not provided [RCV000937441] |
Chr15:40620720 [GRCh38] Chr15:40912918 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.250+4A>G |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001120595] |
Chr15:40610301 [GRCh38] Chr15:40902499 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5890-14A>C |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115951] |
Chr15:40645642 [GRCh38] Chr15:40937840 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6213-12T>C |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115956] |
Chr15:40651459 [GRCh38] Chr15:40943657 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.10G>T (p.Val4Leu) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117022] |
Chr15:40602941 [GRCh38] Chr15:40895139 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.21G>A (p.Glu7=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117023] |
Chr15:40602952 [GRCh38] Chr15:40895150 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6392C>T (p.Thr2131Ile) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117411] |
Chr15:40652082 [GRCh38] Chr15:40944280 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.284+10A>G |
single nucleotide variant |
not provided [RCV000935753] |
Chr15:40611521 [GRCh38] Chr15:40903719 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.2478T>C (p.Asp826=) |
single nucleotide variant |
not provided [RCV000935028] |
Chr15:40622742 [GRCh38] Chr15:40914940 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6888C>T (p.Tyr2296=) |
single nucleotide variant |
not provided [RCV000912086] |
Chr15:40662125 [GRCh38] Chr15:40954323 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.76-4C>T |
single nucleotide variant |
not provided [RCV000935752] |
Chr15:40606389 [GRCh38] Chr15:40898587 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6416-84C>T |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001554586]|not provided [RCV001655901] |
Chr15:40654825 [GRCh38] Chr15:40947023 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6415+145A>G |
single nucleotide variant |
not provided [RCV001567992] |
Chr15:40652250 [GRCh38] Chr15:40944448 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6714-61del |
deletion |
not provided [RCV001558472] |
Chr15:40659264 [GRCh38] Chr15:40951462 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6007-67A>G |
single nucleotide variant |
not provided [RCV001552634] |
Chr15:40646920 [GRCh38] Chr15:40939118 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6714-278C>A |
single nucleotide variant |
not provided [RCV001621842] |
Chr15:40659061 [GRCh38] Chr15:40951259 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6213-159del |
deletion |
not provided [RCV001553106] |
Chr15:40651296 [GRCh38] Chr15:40943494 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.3490C>A (p.Leu1164Met) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV003233260] |
Chr15:40623754 [GRCh38] Chr15:40915952 [GRCh37] Chr15:15q15.1 |
not provided |
NM_144508.5(KNL1):c.35+135A>T |
single nucleotide variant |
not provided [RCV001544820] |
Chr15:40603101 [GRCh38] Chr15:40895299 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.2561G>A (p.Gly854Asp) |
single nucleotide variant |
not provided [RCV003328052] |
Chr15:40622825 [GRCh38] Chr15:40915023 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.36-203A>G |
single nucleotide variant |
not provided [RCV001555287] |
Chr15:40604907 [GRCh38] Chr15:40897105 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6007-273A>T |
single nucleotide variant |
not provided [RCV001555303] |
Chr15:40646714 [GRCh38] Chr15:40938912 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.424_427del (p.Thr142fs) |
deletion |
not provided [RCV001008251] |
Chr15:40620685..40620688 [GRCh38] Chr15:40912883..40912886 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.6837-130G>A |
single nucleotide variant |
not provided [RCV001592275] |
Chr15:40661944 [GRCh38] Chr15:40954142 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5799-77del |
deletion |
not provided [RCV001713998] |
Chr15:40644918 [GRCh38] Chr15:40937116 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.*205A>G |
single nucleotide variant |
not provided [RCV001581934] |
Chr15:40662393 [GRCh38] Chr15:40954591 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6094+176G>A |
single nucleotide variant |
not provided [RCV001717276] |
Chr15:40647250 [GRCh38] Chr15:40939448 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6213-176T>A |
single nucleotide variant |
not provided [RCV001717277] |
Chr15:40651295 [GRCh38] Chr15:40943493 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.5683-181C>T |
single nucleotide variant |
not provided [RCV001621768] |
Chr15:40640731 [GRCh38] Chr15:40932929 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.75+239G>A |
single nucleotide variant |
not provided [RCV001653442] |
Chr15:40605388 [GRCh38] Chr15:40897586 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6007-131C>A |
single nucleotide variant |
not provided [RCV001670685] |
Chr15:40646856 [GRCh38] Chr15:40939054 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.1810C>T (p.Gln604Ter) |
single nucleotide variant |
not provided [RCV001590693] |
Chr15:40622074 [GRCh38] Chr15:40914272 [GRCh37] Chr15:15q15.1 |
pathogenic |
NM_144508.5(KNL1):c.6095-161del |
deletion |
not provided [RCV001718425] |
Chr15:40650126 [GRCh38] Chr15:40942324 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.198-311G>C |
single nucleotide variant |
not provided [RCV001598513] |
Chr15:40609934 [GRCh38] Chr15:40902132 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6213-347A>T |
single nucleotide variant |
not provided [RCV001598830] |
Chr15:40651124 [GRCh38] Chr15:40943322 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6007-109dup |
duplication |
not provided [RCV001658639] |
Chr15:40646856..40646857 [GRCh38] Chr15:40939054..40939055 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6213-176_6213-174del |
deletion |
not provided [RCV001671100] |
Chr15:40651294..40651296 [GRCh38] Chr15:40943492..40943494 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.5890-207A>G |
single nucleotide variant |
not provided [RCV001718208] |
Chr15:40645449 [GRCh38] Chr15:40937647 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.5682+116dup |
duplication |
not provided [RCV001718209] |
Chr15:40629471..40629472 [GRCh38] Chr15:40921669..40921670 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.5890-41G>A |
single nucleotide variant |
not provided [RCV001592437] |
Chr15:40645615 [GRCh38] Chr15:40937813 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.*460C>T |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001119015] |
Chr15:40662648 [GRCh38] Chr15:40954846 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1789A>G (p.Ser597Gly) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001120683] |
Chr15:40622053 [GRCh38] Chr15:40914251 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5769T>C (p.Asp1923=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001120879] |
Chr15:40640998 [GRCh38] Chr15:40933196 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.136-172G>T |
single nucleotide variant |
not provided [RCV001678698] |
Chr15:40608675 [GRCh38] Chr15:40900873 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6837-304C>T |
single nucleotide variant |
not provided [RCV001679776] |
Chr15:40661770 [GRCh38] Chr15:40953968 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6173-13dup |
duplication |
not provided [RCV001649007] |
Chr15:40650517..40650518 [GRCh38] Chr15:40942715..40942716 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.5799-187T>G |
single nucleotide variant |
not provided [RCV001587844] |
Chr15:40644810 [GRCh38] Chr15:40937008 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6415+91C>T |
single nucleotide variant |
not provided [RCV001585031] |
Chr15:40652196 [GRCh38] Chr15:40944394 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6485-192T>C |
single nucleotide variant |
not provided [RCV001539642] |
Chr15:40656850 [GRCh38] Chr15:40949048 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5127A>G (p.Gln1709=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117289] |
Chr15:40625391 [GRCh38] Chr15:40917589 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6439C>T (p.Arg2147Cys) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117413] |
Chr15:40654932 [GRCh38] Chr15:40947130 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.143A>G (p.Asn48Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118651] |
Chr15:40608854 [GRCh38] Chr15:40901052 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3200G>A (p.Ser1067Asn) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118820] |
Chr15:40623464 [GRCh38] Chr15:40915662 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3328T>G (p.Leu1110Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118821] |
Chr15:40623592 [GRCh38] Chr15:40915790 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1754A>G (p.Gln585Arg) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118748] |
Chr15:40622018 [GRCh38] Chr15:40914216 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5273A>G (p.Asn1758Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001118915] |
Chr15:40625537 [GRCh38] Chr15:40917735 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.*238T>C |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001119014] |
Chr15:40662426 [GRCh38] Chr15:40954624 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.744G>A (p.Pro248=) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115680]|not provided [RCV003396753] |
Chr15:40621008 [GRCh38] Chr15:40913206 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.2491G>A (p.Glu831Lys) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001115763] |
Chr15:40622755 [GRCh38] Chr15:40914953 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1352A>G (p.Asn451Ser) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117104] |
Chr15:40621616 [GRCh38] Chr15:40913814 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1429A>G (p.Ile477Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001117105] |
Chr15:40621693 [GRCh38] Chr15:40913891 [GRCh37] Chr15:15q15.1 |
uncertain significance |
GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4 |
copy number gain |
not provided [RCV001259208] |
Chr15:40464942..41196807 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1393A>C (p.Asn465His) |
single nucleotide variant |
Inborn genetic diseases [RCV002546274]|Microcephaly 4, primary, autosomal recessive [RCV001328724]|not provided [RCV001859250] |
Chr15:40621657 [GRCh38] Chr15:40913855 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NC_000015.9:g.(?_32964879)_(91358519_?)dup |
duplication |
Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] |
Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1 |
uncertain significance |
NM_144508.5(KNL1):c.250+3A>G |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001335511] |
Chr15:40610300 [GRCh38] Chr15:40902498 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6311T>G (p.Leu2104Trp) |
single nucleotide variant |
not provided [RCV001356091] |
Chr15:40651569 [GRCh38] Chr15:40943767 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2014A>G (p.Ile672Val) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001328725] |
Chr15:40622278 [GRCh38] Chr15:40914476 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2162C>A (p.Thr721Lys) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001328726] |
Chr15:40622426 [GRCh38] Chr15:40914624 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4980G>C (p.Lys1660Asn) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001328727] |
Chr15:40625244 [GRCh38] Chr15:40917442 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3139G>A (p.Asp1047Asn) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001335512] |
Chr15:40623403 [GRCh38] Chr15:40915601 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV001283809] |
Chr15:40622802 [GRCh38] Chr15:40915000 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.251-220G>A |
single nucleotide variant |
not provided [RCV001539323] |
Chr15:40611258 [GRCh38] Chr15:40903456 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6213-180TA[2] |
microsatellite |
not provided [RCV001538429] |
Chr15:40651291..40651292 [GRCh38] Chr15:40943489..40943490 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.284+105C>A |
single nucleotide variant |
not provided [RCV001645300] |
Chr15:40611616 [GRCh38] Chr15:40903814 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6213-176_6213-173del |
deletion |
not provided [RCV001650703] |
Chr15:40651294..40651297 [GRCh38] Chr15:40943492..40943495 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.135+138G>A |
single nucleotide variant |
not provided [RCV001673291] |
Chr15:40606590 [GRCh38] Chr15:40898788 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.6837-265G>C |
single nucleotide variant |
not provided [RCV001694996] |
Chr15:40661809 [GRCh38] Chr15:40954007 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.250+584C>T |
single nucleotide variant |
not provided [RCV001588608] |
Chr15:40610881 [GRCh38] Chr15:40903079 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5682+115_5682+116dup |
duplication |
not provided [RCV001592570] |
Chr15:40629471..40629472 [GRCh38] Chr15:40921669..40921670 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.35+276T>C |
single nucleotide variant |
not provided [RCV001681017] |
Chr15:40603242 [GRCh38] Chr15:40895440 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.136-241G>T |
single nucleotide variant |
not provided [RCV001592248] |
Chr15:40608606 [GRCh38] Chr15:40900804 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5890-127C>T |
single nucleotide variant |
not provided [RCV001612303] |
Chr15:40645529 [GRCh38] Chr15:40937727 [GRCh37] Chr15:15q15.1 |
benign |
NM_144508.5(KNL1):c.2044_2047del (p.Lys681_Gln682insTer) |
deletion |
Microcephaly 4, primary, autosomal recessive [RCV002245293] |
Chr15:40622305..40622308 [GRCh38] Chr15:40914503..40914506 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.6738C>G (p.Ser2246=) |
single nucleotide variant |
not provided [RCV001726942] |
Chr15:40659363 [GRCh38] Chr15:40951561 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.6095-176G>A |
single nucleotide variant |
not provided [RCV001733318] |
Chr15:40650125 [GRCh38] Chr15:40942323 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.2616G>A (p.Met872Ile) |
single nucleotide variant |
not provided [RCV003238064] |
Chr15:40622880 [GRCh38] Chr15:40915078 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6542A>G (p.Glu2181Gly) |
single nucleotide variant |
not provided [RCV001752017] |
Chr15:40657099 [GRCh38] Chr15:40949297 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6517C>G (p.His2173Asp) |
single nucleotide variant |
not provided [RCV001767855] |
Chr15:40657074 [GRCh38] Chr15:40949272 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2425_2427del (p.Gly809del) |
deletion |
KNL1-related condition [RCV003956355]|not provided [RCV001774049] |
Chr15:40622687..40622689 [GRCh38] Chr15:40914885..40914887 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.1238C>T (p.Pro413Leu) |
single nucleotide variant |
not provided [RCV001771463] |
Chr15:40621502 [GRCh38] Chr15:40913700 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3599C>T (p.Ser1200Phe) |
single nucleotide variant |
not provided [RCV001771464] |
Chr15:40623863 [GRCh38] Chr15:40916061 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5377-7A>G |
single nucleotide variant |
not provided [RCV001752122] |
Chr15:40628063 [GRCh38] Chr15:40920261 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6714-61dup |
duplication |
not provided [RCV001797372] |
Chr15:40659263..40659264 [GRCh38] Chr15:40951461..40951462 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.3003A>G (p.Gly1001=) |
single nucleotide variant |
not provided [RCV002211294] |
Chr15:40623267 [GRCh38] Chr15:40915465 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.1076del (p.Gly359fs) |
deletion |
Microcephaly 4, primary, autosomal recessive [RCV002251729] |
Chr15:40621339 [GRCh38] Chr15:40913537 [GRCh37] Chr15:15q15.1 |
pathogenic |
NM_144508.5(KNL1):c.2960C>T (p.Thr987Ile) |
single nucleotide variant |
not provided [RCV003129189] |
Chr15:40623224 [GRCh38] Chr15:40915422 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.853C>G (p.Gln285Glu) |
single nucleotide variant |
not provided [RCV003128906] |
Chr15:40621117 [GRCh38] Chr15:40913315 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6006+69A>T |
single nucleotide variant |
not provided [RCV002251645] |
Chr15:40645841 [GRCh38] Chr15:40938039 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.285-170G>A |
single nucleotide variant |
not provided [RCV002273483] |
Chr15:40615171 [GRCh38] Chr15:40907369 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.2987G>A (p.Ser996Asn) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV002275614] |
Chr15:40623251 [GRCh38] Chr15:40915449 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3575G>A (p.Gly1192Glu) |
single nucleotide variant |
not provided [RCV002275847] |
Chr15:40623839 [GRCh38] Chr15:40916037 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6068A>G (p.Asp2023Gly) |
single nucleotide variant |
not provided [RCV002267523] |
Chr15:40647048 [GRCh38] Chr15:40939246 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5657C>T (p.Pro1886Leu) |
single nucleotide variant |
not provided [RCV002278978] |
Chr15:40629346 [GRCh38] Chr15:40921544 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5288C>T (p.Thr1763Met) |
single nucleotide variant |
not provided [RCV003235889] |
Chr15:40625552 [GRCh38] Chr15:40917750 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4693A>C (p.Asn1565His) |
single nucleotide variant |
not provided [RCV002511183] |
Chr15:40624957 [GRCh38] Chr15:40917155 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3122C>G (p.Thr1041Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002727899] |
Chr15:40623386 [GRCh38] Chr15:40915584 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6318G>T (p.Leu2106Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002751990] |
Chr15:40652008 [GRCh38] Chr15:40944206 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5224T>A (p.Tyr1742Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002793826] |
Chr15:40625488 [GRCh38] Chr15:40917686 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6184C>G (p.Leu2062Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002773414] |
Chr15:40650555 [GRCh38] Chr15:40942753 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4956C>G (p.Ile1652Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002865193] |
Chr15:40625220 [GRCh38] Chr15:40917418 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3500C>T (p.Thr1167Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002705168] |
Chr15:40623764 [GRCh38] Chr15:40915962 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2616G>C (p.Met872Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002758883] |
Chr15:40622880 [GRCh38] Chr15:40915078 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4693_4696del (p.Asn1565fs) |
deletion |
Inborn genetic diseases [RCV002821937] |
Chr15:40624955..40624958 [GRCh38] Chr15:40917153..40917156 [GRCh37] Chr15:15q15.1 |
pathogenic |
NM_144508.5(KNL1):c.1491A>C (p.Gln497His) |
single nucleotide variant |
Inborn genetic diseases [RCV002707988] |
Chr15:40621755 [GRCh38] Chr15:40913953 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4205A>G (p.Gln1402Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002869030] |
Chr15:40624469 [GRCh38] Chr15:40916667 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1655C>T (p.Ser552Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002797611] |
Chr15:40621919 [GRCh38] Chr15:40914117 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4208C>G (p.Thr1403Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002704222] |
Chr15:40624472 [GRCh38] Chr15:40916670 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5068T>A (p.Ser1690Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002660923] |
Chr15:40625332 [GRCh38] Chr15:40917530 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2825C>G (p.Thr942Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002738074] |
Chr15:40623089 [GRCh38] Chr15:40915287 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4741C>T (p.Pro1581Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002707036] |
Chr15:40625005 [GRCh38] Chr15:40917203 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1813A>G (p.Ser605Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002822343] |
Chr15:40622077 [GRCh38] Chr15:40914275 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1186C>G (p.His396Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002949866] |
Chr15:40621450 [GRCh38] Chr15:40913648 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2923T>C (p.Phe975Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002738075] |
Chr15:40623187 [GRCh38] Chr15:40915385 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3136A>G (p.Lys1046Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002692254] |
Chr15:40623400 [GRCh38] Chr15:40915598 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2582C>T (p.Thr861Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002712441] |
Chr15:40622846 [GRCh38] Chr15:40915044 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2603A>G (p.Asp868Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003004647] |
Chr15:40622867 [GRCh38] Chr15:40915065 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.92G>A (p.Arg31Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002805007] |
Chr15:40606409 [GRCh38] Chr15:40898607 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3713_3715del (p.Asn1238del) |
deletion |
Inborn genetic diseases [RCV002956469] |
Chr15:40623975..40623977 [GRCh38] Chr15:40916173..40916175 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3484A>G (p.Ser1162Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002767490] |
Chr15:40623748 [GRCh38] Chr15:40915946 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3068ATA[1] (p.Asn1024del) |
microsatellite |
Inborn genetic diseases [RCV002764462] |
Chr15:40623330..40623332 [GRCh38] Chr15:40915528..40915530 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2612A>G (p.Asp871Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002873397] |
Chr15:40622876 [GRCh38] Chr15:40915074 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.935C>A (p.Thr312Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002698374] |
Chr15:40621199 [GRCh38] Chr15:40913397 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.397C>T (p.Arg133Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002703544] |
Chr15:40620661 [GRCh38] Chr15:40912859 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1063A>G (p.Thr355Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002808649] |
Chr15:40621327 [GRCh38] Chr15:40913525 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4352C>T (p.Pro1451Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002672728] |
Chr15:40624616 [GRCh38] Chr15:40916814 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3430A>C (p.Asn1144His) |
single nucleotide variant |
Inborn genetic diseases [RCV002935485] |
Chr15:40623694 [GRCh38] Chr15:40915892 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.2183A>G (p.Gln728Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002835607] |
Chr15:40622447 [GRCh38] Chr15:40914645 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5234A>C (p.Glu1745Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002769645] |
Chr15:40625498 [GRCh38] Chr15:40917696 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3361T>C (p.Cys1121Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002836202] |
Chr15:40623625 [GRCh38] Chr15:40915823 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4018G>T (p.Ala1340Ser) |
single nucleotide variant |
not provided [RCV003222815] |
Chr15:40624282 [GRCh38] Chr15:40916480 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.6584A>G (p.Gln2195Arg) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV003133953] |
Chr15:40657141 [GRCh38] Chr15:40949339 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5126A>C (p.Gln1709Pro) |
single nucleotide variant |
not provided [RCV003328055] |
Chr15:40625390 [GRCh38] Chr15:40917588 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5723T>G (p.Leu1908Ter) |
single nucleotide variant |
not specified [RCV003324275] |
Chr15:40640952 [GRCh38] Chr15:40933150 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.3020G>A (p.Arg1007His) |
single nucleotide variant |
not provided [RCV003443384] |
Chr15:40623284 [GRCh38] Chr15:40915482 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4027A>G (p.Asn1343Asp) |
single nucleotide variant |
KNL1-related condition [RCV003399519] |
Chr15:40624291 [GRCh38] Chr15:40916489 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.398G>A (p.Arg133His) |
single nucleotide variant |
KNL1-related condition [RCV003399499] |
Chr15:40620662 [GRCh38] Chr15:40912860 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5569G>A (p.Glu1857Lys) |
single nucleotide variant |
not provided [RCV003443340] |
Chr15:40628664 [GRCh38] Chr15:40920862 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5508C>T (p.Asp1836=) |
single nucleotide variant |
not provided [RCV003400869] |
Chr15:40628201 [GRCh38] Chr15:40920399 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.2718A>G (p.Leu906=) |
single nucleotide variant |
not provided [RCV003400868] |
Chr15:40622982 [GRCh38] Chr15:40915180 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.693T>C (p.Pro231=) |
single nucleotide variant |
not provided [RCV003400866] |
Chr15:40620957 [GRCh38] Chr15:40913155 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.3991A>C (p.Asn1331His) |
single nucleotide variant |
not provided [RCV003443848] |
Chr15:40624255 [GRCh38] Chr15:40916453 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4072C>T (p.Leu1358Phe) |
single nucleotide variant |
KNL1-related condition [RCV003420712] |
Chr15:40624336 [GRCh38] Chr15:40916534 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1491A>G (p.Gln497=) |
single nucleotide variant |
not provided [RCV003400867] |
Chr15:40621755 [GRCh38] Chr15:40913953 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.3178A>G (p.Ser1060Gly) |
single nucleotide variant |
KNL1-related condition [RCV003414492] |
Chr15:40623442 [GRCh38] Chr15:40915640 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1477G>A (p.Ala493Thr) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV003486132] |
Chr15:40621741 [GRCh38] Chr15:40913939 [GRCh37] Chr15:15q15.1 |
uncertain significance |
GRCh37/hg19 15q15.1(chr15:40892419-41125118)x3 |
copy number gain |
not specified [RCV003987091] |
Chr15:40892419..41125118 [GRCh37] Chr15:15q15.1 |
uncertain significance |
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 |
copy number gain |
not specified [RCV003987108] |
Chr15:22770421..50347130 [GRCh37] Chr15:15q11.2-21.2 |
pathogenic |
NM_144508.5(KNL1):c.4709A>C (p.Glu1570Ala) |
single nucleotide variant |
KNL1-related condition [RCV003907122] |
Chr15:40624973 [GRCh38] Chr15:40917171 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.4695T>C (p.Asn1565=) |
single nucleotide variant |
KNL1-related condition [RCV003962044] |
Chr15:40624959 [GRCh38] Chr15:40917157 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.2412A>G (p.Lys804=) |
single nucleotide variant |
KNL1-related condition [RCV003969605] |
Chr15:40622676 [GRCh38] Chr15:40914874 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.2490C>T (p.Asp830=) |
single nucleotide variant |
KNL1-related condition [RCV003896515] |
Chr15:40622754 [GRCh38] Chr15:40914952 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.213G>A (p.Glu71=) |
single nucleotide variant |
KNL1-related condition [RCV003979334] |
Chr15:40610260 [GRCh38] Chr15:40902458 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.4908G>A (p.Pro1636=) |
single nucleotide variant |
KNL1-related condition [RCV003979355] |
Chr15:40625172 [GRCh38] Chr15:40917370 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.1780G>A (p.Ala594Thr) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV003988635] |
Chr15:40622044 [GRCh38] Chr15:40914242 [GRCh37] Chr15:15q15.1 |
not provided |
NM_144508.5(KNL1):c.250+493_250+495del |
microsatellite |
KNL1-related condition [RCV003914686] |
Chr15:40610786..40610788 [GRCh38] Chr15:40902984..40902986 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.4059T>C (p.Ser1353=) |
single nucleotide variant |
not provided [RCV003887400] |
Chr15:40624323 [GRCh38] Chr15:40916521 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.1398A>C (p.Pro466=) |
single nucleotide variant |
KNL1-related condition [RCV003934413] |
Chr15:40621662 [GRCh38] Chr15:40913860 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.3294C>T (p.Asn1098=) |
single nucleotide variant |
KNL1-related condition [RCV003914616] |
Chr15:40623558 [GRCh38] Chr15:40915756 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.5673C>G (p.Leu1891=) |
single nucleotide variant |
KNL1-related condition [RCV003896706] |
Chr15:40629362 [GRCh38] Chr15:40921560 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.2601C>T (p.Asp867=) |
single nucleotide variant |
not provided [RCV003411153] |
Chr15:40622865 [GRCh38] Chr15:40915063 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.251-7T>A |
single nucleotide variant |
Primary Microcephaly, Recessive [RCV000272235]|not provided [RCV000912746]|not specified [RCV000192384] |
Chr15:40611471 [GRCh38] Chr15:40903669 [GRCh37] Chr15:15q15.1 |
likely benign|uncertain significance |
NM_144508.5(KNL1):c.6271C>A (p.Gln2091Lys) |
single nucleotide variant |
not provided [RCV002281221] |
Chr15:40651529 [GRCh38] Chr15:40943727 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.1689G>T (p.Lys563Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002668323] |
Chr15:40621953 [GRCh38] Chr15:40914151 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.197_197+4del |
deletion |
Microcephaly 4, primary, autosomal recessive [RCV003146844] |
Chr15:40608905..40608909 [GRCh38] Chr15:40901103..40901107 [GRCh37] Chr15:15q15.1 |
likely pathogenic |
NM_144508.5(KNL1):c.220A>T (p.Met74Leu) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV003340762] |
Chr15:40610267 [GRCh38] Chr15:40902465 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.5463C>G (p.Cys1821Trp) |
single nucleotide variant |
Microcephaly 4, primary, autosomal recessive [RCV003340763] |
Chr15:40628156 [GRCh38] Chr15:40920354 [GRCh37] Chr15:15q15.1 |
uncertain significance |
NM_144508.5(KNL1):c.743C>T (p.Pro248Leu) |
single nucleotide variant |
not provided [RCV003411151] |
Chr15:40621007 [GRCh38] Chr15:40913205 [GRCh37] Chr15:15q15.1 |
likely benign |
NM_144508.5(KNL1):c.840G>T (p.Gly280=) |
single nucleotide variant |
not provided [RCV003411152] |
Chr15:40621104 [GRCh38] Chr15:40913302 [GRCh37] Chr15:15q15.1 |
likely benign |