NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000516067] |
Chr12:57569269 [GRCh38] Chr12:57963052 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000516107]|Spastic paraplegia [RCV000801216] |
Chr12:57567514 [GRCh38] Chr12:57961297 [GRCh37] Chr12:12q13.3 |
pathogenic |
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000030758]|Spastic paraplegia [RCV000205648]|not provided [RCV000756292] |
Chr12:57568999 [GRCh38] Chr12:57962782 [GRCh37] Chr12:12q13.3 |
pathogenic|likely pathogenic |
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000030759]|not provided [RCV000498777] |
Chr12:57576825 [GRCh38] Chr12:57970608 [GRCh37] Chr12:12q13.3 |
pathogenic|uncertain significance |
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000030760]|Myoclonus, intractable, neonatal [RCV001196631]|Spastic paraplegia [RCV000168349] |
Chr12:57567515 [GRCh38] Chr12:57961298 [GRCh37] Chr12:12q13.3 |
pathogenic|likely pathogenic |
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000030761]|Hereditary spastic paraplegia [RCV000515919]|Spastic paraplegia [RCV001061322]|not provided [RCV001268862]|not specified [RCV000516550] |
Chr12:57569275 [GRCh38] Chr12:57963058 [GRCh37] Chr12:12q13.3 |
pathogenic|uncertain significance |
NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000030762] |
Chr12:57567608 [GRCh38] Chr12:57961391 [GRCh37] Chr12:12q13.3 |
pathogenic |
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000007210]|Spastic paraplegia [RCV000534416]|not provided [RCV000518461] |
Chr12:57569263 [GRCh38] Chr12:57963046 [GRCh37] Chr12:12q13.3 |
pathogenic|likely pathogenic |
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000007211]|Spastic paraplegia [RCV001066186]|not specified [RCV001175553] |
Chr12:57569648 [GRCh38] Chr12:57963431 [GRCh37] Chr12:12q13.3 |
pathogenic|uncertain significance |
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000007208] |
Chr12:57569015 [GRCh38] Chr12:57962798 [GRCh37] Chr12:12q13.3 |
pathogenic |
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000007209]|not provided [RCV000993045] |
Chr12:57569274 [GRCh38] Chr12:57963057 [GRCh37] Chr12:12q13.3 |
pathogenic|likely pathogenic |
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter) |
single nucleotide variant |
Myoclonus, intractable, neonatal [RCV001331328] |
Chr12:57581007 [GRCh38] Chr12:57974790 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.572G>A (p.Arg191His) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000516106] |
Chr12:57567196 [GRCh38] Chr12:57960979 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr) |
single nucleotide variant |
Spastic paraplegia [RCV000549214] |
Chr12:57569293 [GRCh38] Chr12:57963076 [GRCh37] Chr12:12q13.3 |
uncertain significance |
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 |
copy number loss |
See cases [RCV000052813] |
Chr12:57013355..63042498 [GRCh38] Chr12:57407139..63436278 [GRCh37] Chr12:55693406..61722545 [NCBI36] Chr12:12q13.3-14.2 |
pathogenic |
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1 |
copy number loss |
See cases [RCV000052814] |
Chr12:57041158..60273934 [GRCh38] Chr12:57434942..60667715 [GRCh37] Chr12:55721209..58953982 [NCBI36] Chr12:12q13.3-14.1 |
pathogenic |
NM_004984.2(KIF5A):c.931G>A (p.Asp311Asn) |
single nucleotide variant |
Malignant melanoma [RCV000070138] |
Chr12:57569367 [GRCh38] Chr12:57963150 [GRCh37] Chr12:56249417 [NCBI36] Chr12:12q13.3 |
not provided |
NM_004984.2(KIF5A):c.1032G>A (p.Lys344=) |
single nucleotide variant |
Malignant melanoma [RCV000070139] |
Chr12:57569598 [GRCh38] Chr12:57963381 [GRCh37] Chr12:56249648 [NCBI36] Chr12:12q13.3 |
not provided |
NM_004984.2(KIF5A):c.1068G>A (p.Gln356=) |
single nucleotide variant |
Malignant melanoma [RCV000070140] |
Chr12:57569634 [GRCh38] Chr12:57963417 [GRCh37] Chr12:56249684 [NCBI36] Chr12:12q13.3 |
not provided |
NM_004984.2(KIF5A):c.1215C>T (p.Ile405=) |
single nucleotide variant |
Malignant melanoma [RCV000070141] |
Chr12:57570084 [GRCh38] Chr12:57963867 [GRCh37] Chr12:56250134 [NCBI36] Chr12:12q13.3 |
not provided |
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000389116]|Spastic paraplegia [RCV001084410]|not provided [RCV000522245]|not specified [RCV001287992] |
Chr12:57576834 [GRCh38] Chr12:57970617 [GRCh37] Chr12:56256884 [NCBI36] Chr12:12q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_004984.2(KIF5A):c.2674C>T (p.Arg892Trp) |
single nucleotide variant |
Malignant melanoma [RCV000070143] |
Chr12:57581091 [GRCh38] Chr12:57974874 [GRCh37] Chr12:56261141 [NCBI36] Chr12:12q13.3 |
not provided |
NM_004984.2(KIF5A):c.2726C>T (p.Ser909Leu) |
single nucleotide variant |
Malignant melanoma [RCV000070144] |
Chr12:57581143 [GRCh38] Chr12:57974926 [GRCh37] Chr12:56261193 [NCBI36] Chr12:12q13.3 |
not provided |
NM_004984.2(KIF5A):c.1678G>A (p.Glu560Lys) |
single nucleotide variant |
Malignant melanoma [RCV000062571] |
Chr12:57572688 [GRCh38] Chr12:57966471 [GRCh37] Chr12:56252738 [NCBI36] Chr12:12q13.3 |
not provided |
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser) |
single nucleotide variant |
Myoclonus, intractable, neonatal [RCV001331326] |
Chr12:57569629 [GRCh38] Chr12:57963412 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1293+9G>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000323193]|Spastic paraplegia [RCV000197673]|none provided [RCV001286411]|not specified [RCV000174337] |
Chr12:57570171 [GRCh38] Chr12:57963954 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000149510] |
Chr12:57567598 [GRCh38] Chr12:57961381 [GRCh37] Chr12:12q13.3 |
pathogenic|not provided |
NM_004984.4(KIF5A):c.2492C>T (p.Ser831Phe) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149164] |
Chr12:57578296 [GRCh38] Chr12:57972079 [GRCh37] Chr12:12q13.3 |
uncertain significance |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000625287]|Spastic paraplegia [RCV000755289]|none provided [RCV001283576]|not specified [RCV000418457] |
Chr12:57581428 [GRCh38] Chr12:57975211 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
NM_004984.4(KIF5A):c.2199-4G>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000280047]|Myoclonus, intractable, neonatal [RCV001196525]|Spastic paraplegia [RCV000205926]|not specified [RCV000431884] |
Chr12:57576757 [GRCh38] Chr12:57970540 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.714+8G>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000366452]|Spastic paraplegia [RCV000206134]|none provided [RCV001286752]|not specified [RCV000430803] |
Chr12:57567626 [GRCh38] Chr12:57961409 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.129+9C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000281618]|Spastic paraplegia [RCV000203713]|not specified [RCV000608205] |
Chr12:57550409 [GRCh38] Chr12:57944192 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp) |
single nucleotide variant |
not specified [RCV000756291] |
Chr12:57581151 [GRCh38] Chr12:57974934 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.868G>C (p.Asp290His) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000515861] |
Chr12:57569304 [GRCh38] Chr12:57963087 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000362839]|Spastic paraplegia [RCV000229098]|not specified [RCV000600940] |
Chr12:57569671 [GRCh38] Chr12:57963454 [GRCh37] Chr12:12q13.3 |
benign|likely benign|uncertain significance |
NM_004984.4(KIF5A):c.714+9T>C |
single nucleotide variant |
not provided [RCV000229480] |
Chr12:57567627 [GRCh38] Chr12:57961410 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000294879]|Spastic paraplegia [RCV000231949]|not specified [RCV000728519] |
Chr12:57578059 [GRCh38] Chr12:57971842 [GRCh37] Chr12:12q13.3 |
benign|likely benign|uncertain significance |
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001260204]|Hereditary spastic paraplegia 10 [RCV000625002]|Spastic paraplegia [RCV001081669]|none provided [RCV001282972]|not provided [RCV000713410]|not specified [RCV000424199] |
Chr12:57581917 [GRCh38] Chr12:57975700 [GRCh37] Chr12:12q13.3 |
benign|likely benign|uncertain significance |
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) |
single nucleotide variant |
not provided [RCV000756293] |
Chr12:57564157 [GRCh38] Chr12:57957940 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2006C>A (p.Ala669Asp) |
single nucleotide variant |
not provided [RCV000235514] |
Chr12:57575740 [GRCh38] Chr12:57969523 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.598G>A (p.Glu200Lys) |
single nucleotide variant |
not provided [RCV000235813] |
Chr12:57567502 [GRCh38] Chr12:57961285 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2174A>C (p.Gln725Pro) |
single nucleotide variant |
not provided [RCV000236020] |
Chr12:57576354 [GRCh38] Chr12:57970137 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2162T>G (p.Ile721Ser) |
single nucleotide variant |
not provided [RCV000236112] |
Chr12:57576342 [GRCh38] Chr12:57970125 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg) |
single nucleotide variant |
not provided [RCV000236671] |
Chr12:57570152 [GRCh38] Chr12:57963935 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000264770] |
Chr12:57575233 [GRCh38] Chr12:57969016 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000268148]|Spastic paraplegia [RCV000471988]|none provided [RCV001285402]|not specified [RCV000610842] |
Chr12:57570045 [GRCh38] Chr12:57963828 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.968+12G>C |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000271964] |
Chr12:57569416 [GRCh38] Chr12:57963199 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000625001]|Spastic paraplegia [RCV000860656]|none provided [RCV001284883]|not specified [RCV000595607] |
Chr12:57581498 [GRCh38] Chr12:57975281 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.396+14G>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000351591]|not specified [RCV000435916] |
Chr12:57564226 [GRCh38] Chr12:57958009 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.*163C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000354465] |
Chr12:57584344 [GRCh38] Chr12:57978127 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000311827]|Spastic paraplegia [RCV001337471] |
Chr12:57567190 [GRCh38] Chr12:57960973 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000357841] |
Chr12:57582603 [GRCh38] Chr12:57976386 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*326G>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000292786] |
Chr12:57584507 [GRCh38] Chr12:57978290 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*170T>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000277566] |
Chr12:57584351 [GRCh38] Chr12:57978134 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000361512]|Spastic paraplegia [RCV001201559] |
Chr12:57581540 [GRCh38] Chr12:57975323 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
NM_004984.4(KIF5A):c.471C>T (p.His157=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000390969]|Spastic paraplegia [RCV000860876]|not specified [RCV000616873] |
Chr12:57564943 [GRCh38] Chr12:57958726 [GRCh37] Chr12:12q13.3 |
benign|likely benign|uncertain significance |
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000263091] |
Chr12:57583148 [GRCh38] Chr12:57976931 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000319934]|Spastic paraplegia [RCV001306129]|none provided [RCV001287338] |
Chr12:57575666 [GRCh38] Chr12:57969449 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001260220]|Hereditary spastic paraplegia 10 [RCV000391548]|Spastic paraplegia [RCV001039954]|not provided [RCV000994942]|not specified [RCV000611837] |
Chr12:57581887 [GRCh38] Chr12:57975670 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000391555]|not provided [RCV000869040] |
Chr12:57581497 [GRCh38] Chr12:57975280 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000345953]|not specified [RCV000436053] |
Chr12:57581434 [GRCh38] Chr12:57975217 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000349829]|Spastic paraplegia [RCV000862050]|not specified [RCV000425452] |
Chr12:57578065 [GRCh38] Chr12:57971848 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) |
single nucleotide variant |
Spastic paraplegia [RCV001067408]|not specified [RCV000313010] |
Chr12:57581917 [GRCh38] Chr12:57975700 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000374475]|Spastic paraplegia [RCV000545988]|not specified [RCV000517388] |
Chr12:57576103 [GRCh38] Chr12:57969886 [GRCh37] Chr12:12q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_004984.4(KIF5A):c.292-5G>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000400107]|Spastic paraplegia [RCV000868475] |
Chr12:57564103 [GRCh38] Chr12:57957886 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001114823]|Spastic paraplegia [RCV001087471]|not provided [RCV000725991]|not specified [RCV000316036] |
Chr12:57570019 [GRCh38] Chr12:57963802 [GRCh37] Chr12:12q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000401393] |
Chr12:57578282 [GRCh38] Chr12:57972065 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000377805]|Spastic paraplegia [RCV000868285] |
Chr12:57572087 [GRCh38] Chr12:57965870 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
NM_004984.4(KIF5A):c.1372T>G (p.Ser458Ala) |
single nucleotide variant |
not provided [RCV000287601] |
Chr12:57572070 [GRCh38] Chr12:57965853 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2271C>T (p.His757=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000334627] |
Chr12:57576833 [GRCh38] Chr12:57970616 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.292-14C>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000336615] |
Chr12:57564094 [GRCh38] Chr12:57957877 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.396+13C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000315550] |
Chr12:57564225 [GRCh38] Chr12:57958008 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*326G>C |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000387084] |
Chr12:57584507 [GRCh38] Chr12:57978290 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) |
single nucleotide variant |
not provided [RCV000298842] |
Chr12:57569363 [GRCh38] Chr12:57963146 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.36+5C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000318286]|not specified [RCV000422563] |
Chr12:57583220 [GRCh38] Chr12:57977003 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.1842G>C (p.Glu614Asp) |
single nucleotide variant |
not provided [RCV000489143] |
Chr12:57575209 [GRCh38] Chr12:57968992 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1717-6C>T |
single nucleotide variant |
not provided [RCV000487731] |
Chr12:57575078 [GRCh38] Chr12:57968861 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) |
single nucleotide variant |
not provided [RCV000488315] |
Chr12:57570060 [GRCh38] Chr12:57963843 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) |
single nucleotide variant |
not provided [RCV000490061] |
Chr12:57581462 [GRCh38] Chr12:57975245 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*422_*425GCAC[4] |
microsatellite |
Spastic paraplegia, autosomal dominant [RCV000329226] |
Chr12:57584599..57584600 [GRCh38] Chr12:57978382..57978383 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*317C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000332613] |
Chr12:57584498 [GRCh38] Chr12:57978281 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*422_*425GCAC[2] |
microsatellite |
Spastic paraplegia, autosomal dominant [RCV000383830] |
Chr12:57584600..57584603 [GRCh38] Chr12:57978383..57978386 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.-193G>A |
single nucleotide variant |
Spastic paraplegia, autosomal dominant [RCV000385178] |
Chr12:57550079 [GRCh38] Chr12:57943862 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1079T>C (p.Ile360Thr) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000308405] |
Chr12:57569645 [GRCh38] Chr12:57963428 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*435C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000289455] |
Chr12:57584616 [GRCh38] Chr12:57978399 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*492A>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000344388] |
Chr12:57584673 [GRCh38] Chr12:57978456 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis, susceptibility to, 25 [RCV000598752] |
Chr12:57582628 [GRCh38] Chr12:57976411 [GRCh37] Chr12:12q13.3 |
risk factor |
NM_004984.4(KIF5A):c.1735G>A (p.Ala579Thr) |
single nucleotide variant |
not provided [RCV000592755] |
Chr12:57575102 [GRCh38] Chr12:57968885 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001325976]|not provided [RCV000599044] |
Chr12:57575129 [GRCh38] Chr12:57968912 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2993-3C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis, susceptibility to, 25 [RCV000598707] |
Chr12:57582599 [GRCh38] Chr12:57976382 [GRCh37] Chr12:12q13.3 |
risk factor |
NM_004984.4(KIF5A):c.3020+2T>A |
single nucleotide variant |
Amyotrophic lateral sclerosis, susceptibility to, 25 [RCV000599212] |
Chr12:57582631 [GRCh38] Chr12:57976414 [GRCh37] Chr12:12q13.3 |
risk factor |
NM_004984.4(KIF5A):c.1849C>T (p.Arg617Cys) |
single nucleotide variant |
not provided [RCV000521501] |
Chr12:57575216 [GRCh38] Chr12:57968999 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.3020+1G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis, susceptibility to, 25 [RCV000599583] |
Chr12:57582630 [GRCh38] Chr12:57976413 [GRCh37] Chr12:12q13.3 |
risk factor |
NM_004984.4(KIF5A):c.605G>C (p.Ser202Thr) |
single nucleotide variant |
not provided [RCV000415739] |
Chr12:57567509 [GRCh38] Chr12:57961292 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) |
single nucleotide variant |
Spastic paraplegia [RCV001086019]|not provided [RCV000416236]|not specified [RCV000616897] |
Chr12:57568998 [GRCh38] Chr12:57962781 [GRCh37] Chr12:12q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004984.4(KIF5A):c.2854del (p.Gln952fs) |
deletion |
Myoclonus, intractable, neonatal [RCV000412536] |
Chr12:57581512 [GRCh38] Chr12:57975295 [GRCh37] Chr12:12q13.3 |
pathogenic |
KIF5A, 1-BP DEL, 2934G |
deletion |
Myoclonus, intractable, neonatal [RCV000412595] |
Chr12:12q13.3 |
pathogenic |
NM_004984.4(KIF5A):c.2922del (p.Cys975fs) |
deletion |
Myoclonus, intractable, neonatal [RCV000412656] |
Chr12:57581881 [GRCh38] Chr12:57975664 [GRCh37] Chr12:12q13.3 |
pathogenic |
NM_004984.4(KIF5A):c.2993-6C>T |
single nucleotide variant |
not specified [RCV000431230] |
Chr12:57582596 [GRCh38] Chr12:57976379 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.531G>A (p.Pro177=) |
single nucleotide variant |
not provided [RCV000713411] |
Chr12:57567155 [GRCh38] Chr12:57960938 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.2539-13G>A |
single nucleotide variant |
not specified [RCV000428050] |
Chr12:57580943 [GRCh38] Chr12:57974726 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.446-18T>C |
single nucleotide variant |
not specified [RCV000432062] |
Chr12:57564900 [GRCh38] Chr12:57958683 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.847A>G (p.Lys283Glu) |
single nucleotide variant |
not provided [RCV000422449] |
Chr12:57569283 [GRCh38] Chr12:57963066 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.820-19G>T |
single nucleotide variant |
not provided [RCV000513769]|not specified [RCV000439413] |
Chr12:57569237 [GRCh38] Chr12:57963020 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.2023+18C>T |
single nucleotide variant |
none provided [RCV001282522]|not specified [RCV000439493] |
Chr12:57575775 [GRCh38] Chr12:57969558 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.2971C>A (p.Gln991Lys) |
single nucleotide variant |
not provided [RCV000427589] |
Chr12:57581931 [GRCh38] Chr12:57975714 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) |
single nucleotide variant |
Spastic paraplegia [RCV001078590]|none provided [RCV001287293]|not provided [RCV000727034]|not specified [RCV000426690] |
Chr12:57572117 [GRCh38] Chr12:57965900 [GRCh37] Chr12:12q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004984.4(KIF5A):c.604A>C (p.Ser202Arg) |
single nucleotide variant |
not provided [RCV000436918] |
Chr12:57567508 [GRCh38] Chr12:57961291 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.2403C>T (p.Phe801=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111515]|not specified [RCV000440930] |
Chr12:57578050 [GRCh38] Chr12:57971833 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) |
single nucleotide variant |
Spastic paraplegia [RCV000464334]|not provided [RCV000713413] |
Chr12:57569403 [GRCh38] Chr12:57963186 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) |
single nucleotide variant |
not provided [RCV000483882] |
Chr12:57564488 [GRCh38] Chr12:57958271 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.801C>T (p.Ser267=) |
single nucleotide variant |
not provided [RCV000463721] |
Chr12:57569049 [GRCh38] Chr12:57962832 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp) |
single nucleotide variant |
Spastic paraplegia [RCV000471143] |
Chr12:57576326 [GRCh38] Chr12:57970109 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.230G>A (p.Gly77Asp) |
single nucleotide variant |
Spastic paraplegia [RCV000460120] |
Chr12:57563632 [GRCh38] Chr12:57957415 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.433G>C (p.Asp145His) |
single nucleotide variant |
Spastic paraplegia [RCV000457563] |
Chr12:57564496 [GRCh38] Chr12:57958279 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys) |
single nucleotide variant |
Spastic paraplegia [RCV000465321] |
Chr12:57582629 [GRCh38] Chr12:57976412 [GRCh37] Chr12:12q13.3 |
likely pathogenic|uncertain significance |
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu) |
single nucleotide variant |
Spastic paraplegia [RCV000472975] |
Chr12:57563671 [GRCh38] Chr12:57957454 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001114824]|Spastic paraplegia [RCV000458531]|not provided [RCV001289240] |
Chr12:57570133 [GRCh38] Chr12:57963916 [GRCh37] Chr12:12q13.3 |
likely benign|uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001062527]|not specified [RCV000507176] |
Chr12:57577726 [GRCh38] Chr12:57971509 [GRCh37] Chr12:12q13.3 |
likely pathogenic|uncertain significance |
NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000495879] |
Chr12:57569047 [GRCh38] Chr12:57962830 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.2262C>T (p.Ser754=) |
single nucleotide variant |
not specified [RCV000602559] |
Chr12:57576824 [GRCh38] Chr12:57970607 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1896C>T (p.Leu632=) |
single nucleotide variant |
not specified [RCV000609989] |
Chr12:57575263 [GRCh38] Chr12:57969046 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.397-16_397-14del |
microsatellite |
not specified [RCV000616294] |
Chr12:57564441..57564443 [GRCh38] Chr12:57958224..57958226 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001113506]|not specified [RCV000616819] |
Chr12:57581135 [GRCh38] Chr12:57974918 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.-13G>A |
single nucleotide variant |
not specified [RCV000608220] |
Chr12:57550259 [GRCh38] Chr12:57944042 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1218G>C (p.Val406=) |
single nucleotide variant |
not specified [RCV000611378] |
Chr12:57570087 [GRCh38] Chr12:57963870 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1294-7C>T |
single nucleotide variant |
Spastic paraplegia [RCV001078893]|not provided [RCV000713409] |
Chr12:57571314 [GRCh38] Chr12:57965097 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1287C>T (p.Asp429=) |
single nucleotide variant |
not specified [RCV000603977] |
Chr12:57570156 [GRCh38] Chr12:57963939 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2655C>T (p.Gly885=) |
single nucleotide variant |
not specified [RCV000614871] |
Chr12:57581072 [GRCh38] Chr12:57974855 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.861T>C (p.Ile287=) |
single nucleotide variant |
not specified [RCV000614892] |
Chr12:57569297 [GRCh38] Chr12:57963080 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.292-4C>A |
single nucleotide variant |
not specified [RCV000605103] |
Chr12:57564104 [GRCh38] Chr12:57957887 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2198+19G>T |
single nucleotide variant |
not specified [RCV000607348] |
Chr12:57576397 [GRCh38] Chr12:57970180 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.158T>C (p.Phe53Ser) |
single nucleotide variant |
Spastic paraplegia [RCV000633016] |
Chr12:57563467 [GRCh38] Chr12:57957250 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) |
single nucleotide variant |
Spastic paraplegia [RCV000678471] |
Chr12:57581950 [GRCh38] Chr12:57975733 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.765_767CAA[1] (p.Asn256del) |
microsatellite |
Spastic paraplegia [RCV000705704] |
Chr12:57569013..57569015 [GRCh38] Chr12:57962796..57962798 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala) |
single nucleotide variant |
Spastic paraplegia [RCV000693925]|not provided [RCV000713412] |
Chr12:57567210 [GRCh38] Chr12:57960993 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2913_2914insA (p.Ala972fs) |
insertion |
Spastic paraplegia [RCV000695342] |
Chr12:57581873..57581874 [GRCh38] Chr12:57975656..57975657 [GRCh37] Chr12:12q13.3 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_004984.4(KIF5A):c.590-3C>T |
single nucleotide variant |
Spastic paraplegia [RCV001322469]|not provided [RCV001287993] |
Chr12:57567491 [GRCh38] Chr12:57961274 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.574C>T (p.His192Tyr) |
single nucleotide variant |
not provided [RCV000761835] |
Chr12:57567198 [GRCh38] Chr12:57960981 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001114822] |
Chr12:57569326 [GRCh38] Chr12:57963109 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2301-3C>T |
single nucleotide variant |
not provided [RCV000994940] |
Chr12:57577710 [GRCh38] Chr12:57971493 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2540T>A (p.Leu847Gln) |
single nucleotide variant |
not provided [RCV000994941] |
Chr12:57580957 [GRCh38] Chr12:57974740 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*14C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001114932] |
Chr12:57583193 [GRCh38] Chr12:57976976 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.802G>A (p.Ala268Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001059220] |
Chr12:57569050 [GRCh38] Chr12:57962833 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2157C>T (p.Asp719=) |
single nucleotide variant |
not provided [RCV000869381] |
Chr12:57576337 [GRCh38] Chr12:57970120 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1233C>T (p.Pro411=) |
single nucleotide variant |
not provided [RCV000915236] |
Chr12:57570102 [GRCh38] Chr12:57963885 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2538+8T>G |
single nucleotide variant |
Spastic paraplegia [RCV001088931]|not provided [RCV000866030] |
Chr12:57578350 [GRCh38] Chr12:57972133 [GRCh37] Chr12:12q13.3 |
benign|likely benign |
NM_004984.4(KIF5A):c.2832C>T (p.Ile944=) |
single nucleotide variant |
Spastic paraplegia [RCV000868181] |
Chr12:57581491 [GRCh38] Chr12:57975274 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.327T>G (p.Ile109Met) |
single nucleotide variant |
Spastic paraplegia [RCV001053519] |
Chr12:57564143 [GRCh38] Chr12:57957926 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1362+7G>A |
single nucleotide variant |
not provided [RCV001287990] |
Chr12:57571396 [GRCh38] Chr12:57965179 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.969-1G>C |
single nucleotide variant |
Spastic paraplegia [RCV001048914] |
Chr12:57569534 [GRCh38] Chr12:57963317 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.121G>A (p.Val41Ile) |
single nucleotide variant |
Spastic paraplegia [RCV001036880] |
Chr12:57550392 [GRCh38] Chr12:57944175 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV000785115] |
Chr12:57576299 [GRCh38] Chr12:57970082 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2681A>T (p.Gln894Leu) |
single nucleotide variant |
Spastic paraplegia [RCV000809354] |
Chr12:57581098 [GRCh38] Chr12:57974881 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1926G>A (p.Ser642=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001109182]|Spastic paraplegia [RCV000868570] |
Chr12:57575660 [GRCh38] Chr12:57969443 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1656C>T (p.Asn552=) |
single nucleotide variant |
not provided [RCV000864164] |
Chr12:57572666 [GRCh38] Chr12:57966449 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.445+7G>A |
single nucleotide variant |
not provided [RCV000917344] |
Chr12:57564515 [GRCh38] Chr12:57958298 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2004G>A (p.Leu668=) |
single nucleotide variant |
not provided [RCV000866585] |
Chr12:57575738 [GRCh38] Chr12:57969521 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.261G>A (p.Gln87=) |
single nucleotide variant |
Spastic paraplegia [RCV000863264] |
Chr12:57563663 [GRCh38] Chr12:57957446 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.499A>C (p.Lys167Gln) |
single nucleotide variant |
Esophageal atresia [RCV000984743] |
Chr12:57564971 [GRCh38] Chr12:57958754 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2124G>A (p.Glu708=) |
single nucleotide variant |
Spastic paraplegia [RCV000983458] |
Chr12:57576304 [GRCh38] Chr12:57970087 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1236G>A (p.Glu412=) |
single nucleotide variant |
Spastic paraplegia [RCV000865610] |
Chr12:57570105 [GRCh38] Chr12:57963888 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2024-7C>T |
single nucleotide variant |
not provided [RCV000875449] |
Chr12:57576080 [GRCh38] Chr12:57969863 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001113505]|Spastic paraplegia [RCV000802776] |
Chr12:57581089 [GRCh38] Chr12:57974872 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1241G>A (p.Arg414Gln) |
single nucleotide variant |
Spastic paraplegia [RCV000815836] |
Chr12:57570110 [GRCh38] Chr12:57963893 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser) |
single nucleotide variant |
not provided [RCV000993044] |
Chr12:57581073 [GRCh38] Chr12:57974856 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2993-217G>A |
single nucleotide variant |
not provided [RCV000843004] |
Chr12:57582385 [GRCh38] Chr12:57976168 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.820-82C>T |
single nucleotide variant |
not provided [RCV000834826] |
Chr12:57569174 [GRCh38] Chr12:57962957 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2608G>T (p.Glu870Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000819853] |
Chr12:57581025 [GRCh38] Chr12:57974808 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.129+310C>T |
single nucleotide variant |
not provided [RCV000830617] |
Chr12:57550710 [GRCh38] Chr12:57944493 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.3050A>G (p.Glu1017Gly) |
single nucleotide variant |
Spastic paraplegia [RCV000809975] |
Chr12:57583130 [GRCh38] Chr12:57976913 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1569+6T>C |
single nucleotide variant |
Spastic paraplegia [RCV000792986] |
Chr12:57572273 [GRCh38] Chr12:57966056 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro) |
single nucleotide variant |
Spastic paraplegia [RCV000817670] |
Chr12:57567602 [GRCh38] Chr12:57961385 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1717-129G>A |
single nucleotide variant |
not provided [RCV000842999] |
Chr12:57574955 [GRCh38] Chr12:57968738 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.445+22A>G |
single nucleotide variant |
not provided [RCV000843000] |
Chr12:57564530 [GRCh38] Chr12:57958313 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.2910-83A>G |
single nucleotide variant |
not provided [RCV000843002] |
Chr12:57581787 [GRCh38] Chr12:57975570 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.714+93T>C |
single nucleotide variant |
not provided [RCV000843005] |
Chr12:57567711 [GRCh38] Chr12:57961494 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.36+42C>A |
single nucleotide variant |
not provided [RCV000843015] |
Chr12:57583257 [GRCh38] Chr12:57977040 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.1717-152C>G |
single nucleotide variant |
not provided [RCV000843016] |
Chr12:57574932 [GRCh38] Chr12:57968715 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001114930] |
Chr12:57581913 [GRCh38] Chr12:57975696 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2756-43A>C |
single nucleotide variant |
not provided [RCV000843007] |
Chr12:57581372 [GRCh38] Chr12:57975155 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.714+161A>G |
single nucleotide variant |
not provided [RCV000843009] |
Chr12:57567779 [GRCh38] Chr12:57961562 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.2992+175C>G |
single nucleotide variant |
not provided [RCV000843011] |
Chr12:57582127 [GRCh38] Chr12:57975910 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.2539-69G>A |
single nucleotide variant |
not provided [RCV000843019] |
Chr12:57580887 [GRCh38] Chr12:57974670 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.2992+218G>C |
single nucleotide variant |
not provided [RCV000843021] |
Chr12:57582170 [GRCh38] Chr12:57975953 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.3020+235C>G |
single nucleotide variant |
not provided [RCV000843024] |
Chr12:57582864 [GRCh38] Chr12:57976647 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.2826del (p.Glu942fs) |
deletion |
Spastic paraplegia [RCV000801570] |
Chr12:57581485 [GRCh38] Chr12:57975268 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.291+15T>C |
single nucleotide variant |
not provided [RCV000827243] |
Chr12:57563708 [GRCh38] Chr12:57957491 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2993-267A>G |
single nucleotide variant |
not provided [RCV000827705] |
Chr12:57582335 [GRCh38] Chr12:57976118 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.561G>A (p.Gly187=) |
single nucleotide variant |
not provided [RCV000874677] |
Chr12:57567185 [GRCh38] Chr12:57960968 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.730G>C (p.Ala244Pro) |
single nucleotide variant |
Spastic paraplegia [RCV000814503] |
Chr12:57568978 [GRCh38] Chr12:57962761 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2955C>T (p.Gly985=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001114931] |
Chr12:57581915 [GRCh38] Chr12:57975698 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.60C>T (p.Asn20=) |
single nucleotide variant |
Spastic paraplegia [RCV000869737] |
Chr12:57550331 [GRCh38] Chr12:57944114 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.820-9C>A |
single nucleotide variant |
Spastic paraplegia [RCV000869679] |
Chr12:57569247 [GRCh38] Chr12:57963030 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.1407G>T (p.Glu469Asp) |
single nucleotide variant |
Spastic paraplegia [RCV001202912] |
Chr12:57572105 [GRCh38] Chr12:57965888 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1163C>A (p.Ala388Asp) |
single nucleotide variant |
Spastic paraplegia [RCV001202554] |
Chr12:57570032 [GRCh38] Chr12:57963815 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe) |
single nucleotide variant |
Spastic paraplegia [RCV001209948] |
Chr12:57569308 [GRCh38] Chr12:57963091 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.3082G>A (p.Glu1028Lys) |
single nucleotide variant |
Spastic paraplegia [RCV001218414] |
Chr12:57583162 [GRCh38] Chr12:57976945 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2112G>A (p.Glu704=) |
single nucleotide variant |
not provided [RCV000993043] |
Chr12:57576292 [GRCh38] Chr12:57970075 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.2:c.2993del |
deletion |
Spastic paraplegia [RCV001204511] |
Chr12:57582601 [GRCh38] Chr12:57976384 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.-45C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111423] |
Chr12:57550227 [GRCh38] Chr12:57944010 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2433+10G>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111516] |
Chr12:57578090 [GRCh38] Chr12:57971873 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.698T>A (p.Leu233Gln) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001250416] |
Chr12:57567602 [GRCh38] Chr12:57961385 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.*335T>G |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001109285] |
Chr12:57584516 [GRCh38] Chr12:57978299 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1056G>T (p.Lys352Asn) |
single nucleotide variant |
Myoclonus, intractable, neonatal [RCV001197795] |
Chr12:57569622 [GRCh38] Chr12:57963405 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1998T>C (p.Asp666=) |
single nucleotide variant |
not provided [RCV000931125] |
Chr12:57575732 [GRCh38] Chr12:57969515 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2247C>T (p.Tyr749=) |
single nucleotide variant |
Spastic paraplegia [RCV000873052] |
Chr12:57576809 [GRCh38] Chr12:57970592 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.3024T>C (p.Ser1008=) |
single nucleotide variant |
not provided [RCV000873547] |
Chr12:57583104 [GRCh38] Chr12:57976887 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.660G>A (p.Thr220=) |
single nucleotide variant |
not provided [RCV000930786] |
Chr12:57567564 [GRCh38] Chr12:57961347 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=) |
single nucleotide variant |
not provided [RCV000865674] |
Chr12:57583113 [GRCh38] Chr12:57976896 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1570-5C>T |
single nucleotide variant |
Spastic paraplegia [RCV001214478] |
Chr12:57572575 [GRCh38] Chr12:57966358 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln) |
single nucleotide variant |
Spastic paraplegia [RCV001244777] |
Chr12:57576327 [GRCh38] Chr12:57970110 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2741A>G (p.His914Arg) |
single nucleotide variant |
Spastic paraplegia [RCV001070549] |
Chr12:57581158 [GRCh38] Chr12:57974941 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.818C>G (p.Thr273Ser) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001113422] |
Chr12:57569066 [GRCh38] Chr12:57962849 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.899T>A (p.Met300Lys) |
single nucleotide variant |
Spastic paraplegia [RCV001206694] |
Chr12:57569335 [GRCh38] Chr12:57963118 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2300C>G (p.Thr767Arg) |
single nucleotide variant |
Spastic paraplegia [RCV001210098] |
Chr12:57576862 [GRCh38] Chr12:57970645 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.218-7C>G |
single nucleotide variant |
not provided [RCV000935533] |
Chr12:57563613 [GRCh38] Chr12:57957396 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.785T>C (p.Leu262Pro) |
single nucleotide variant |
not provided [RCV000994937] |
Chr12:57569033 [GRCh38] Chr12:57962816 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) |
single nucleotide variant |
not provided [RCV000994938] |
Chr12:57571338 [GRCh38] Chr12:57965121 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2185G>C (p.Asp729His) |
single nucleotide variant |
not provided [RCV000994939] |
Chr12:57576365 [GRCh38] Chr12:57970148 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111424]|Spastic paraplegia [RCV001303301] |
Chr12:57550397 [GRCh38] Chr12:57944180 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111425] |
Chr12:57563461 [GRCh38] Chr12:57957244 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.291+5G>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111426] |
Chr12:57563698 [GRCh38] Chr12:57957481 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2300+7G>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111514] |
Chr12:57576869 [GRCh38] Chr12:57970652 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001109180] |
Chr12:57572174 [GRCh38] Chr12:57965957 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2024-8T>G |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001109183] |
Chr12:57576079 [GRCh38] Chr12:57969862 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.*394A>G |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111612] |
Chr12:57584575 [GRCh38] Chr12:57978358 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.*425C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111613] |
Chr12:57584606 [GRCh38] Chr12:57978389 [GRCh37] Chr12:12q13.3 |
benign |
NM_004984.4(KIF5A):c.*449C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001111614] |
Chr12:57584630 [GRCh38] Chr12:57978413 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2124G>T (p.Glu708Asp) |
single nucleotide variant |
not provided [RCV001093318] |
Chr12:57576304 [GRCh38] Chr12:57970087 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1521G>A (p.Glu507=) |
single nucleotide variant |
not provided [RCV001093317] |
Chr12:57572219 [GRCh38] Chr12:57966002 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2005G>A (p.Ala669Thr) |
single nucleotide variant |
Demyelinating peripheral neuropathy [RCV001007474] |
Chr12:57575739 [GRCh38] Chr12:57969522 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.715-9C>A |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001113421] |
Chr12:57568954 [GRCh38] Chr12:57962737 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.502-15A>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001113420] |
Chr12:57567111 [GRCh38] Chr12:57960894 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001113504] |
Chr12:57578270 [GRCh38] Chr12:57972053 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.*86C>G |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001109284] |
Chr12:57584267 [GRCh38] Chr12:57978050 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.178G>C (p.Glu60Gln) |
single nucleotide variant |
not provided [RCV001093316] |
Chr12:57563487 [GRCh38] Chr12:57957270 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.252T>C (p.Ala84=) |
single nucleotide variant |
not provided [RCV001171889] |
Chr12:57563654 [GRCh38] Chr12:57957437 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=) |
single nucleotide variant |
not specified [RCV001000631] |
Chr12:57570036 [GRCh38] Chr12:57963819 [GRCh37] Chr12:12q13.3 |
likely benign |
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 |
copy number gain |
not provided [RCV001006505] |
Chr12:55552371..62126304 [GRCh37] Chr12:12q13.2-14.1 |
pathogenic |
NM_004984.4(KIF5A):c.510T>G (p.Thr170=) |
single nucleotide variant |
not specified [RCV001002595] |
Chr12:57567134 [GRCh38] Chr12:57960917 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2740C>T (p.His914Tyr) |
single nucleotide variant |
not provided [RCV001200088] |
Chr12:57581157 [GRCh38] Chr12:57974940 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001208679] |
Chr12:57567175 [GRCh38] Chr12:57960958 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.714+6G>C |
single nucleotide variant |
Spastic paraplegia [RCV001233083] |
Chr12:57567624 [GRCh38] Chr12:57961407 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) |
single nucleotide variant |
Spastic paraplegia [RCV001215426]|not provided [RCV001268563] |
Chr12:57564956 [GRCh38] Chr12:57958739 [GRCh37] Chr12:12q13.3 |
pathogenic |
NM_004984.4(KIF5A):c.3020+1G>T |
single nucleotide variant |
Spastic paraplegia [RCV001037799] |
Chr12:57582630 [GRCh38] Chr12:57976413 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.1964G>A (p.Arg655Gln) |
single nucleotide variant |
Spastic paraplegia [RCV001202271] |
Chr12:57575698 [GRCh38] Chr12:57969481 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1570-3C>T |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001109181] |
Chr12:57572577 [GRCh38] Chr12:57966360 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly) |
single nucleotide variant |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 [RCV001095391] |
Chr12:57582614 [GRCh38] Chr12:57976397 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.530C>T (p.Pro177Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001215694] |
Chr12:57567154 [GRCh38] Chr12:57960937 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1142G>A (p.Arg381His) |
single nucleotide variant |
Spastic paraplegia [RCV001034512] |
Chr12:57570011 [GRCh38] Chr12:57963794 [GRCh37] Chr12:12q13.3 |
likely benign |
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1 |
copy number loss |
not provided [RCV001006506] |
Chr12:57582163..59031979 [GRCh37] Chr12:12q13.3-14.1 |
likely pathogenic |
NM_004984.4(KIF5A):c.1503G>A (p.Lys501=) |
single nucleotide variant |
not provided [RCV001253858] |
Chr12:57572201 [GRCh38] Chr12:57965984 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.2868_2870del (p.Leu957del) |
deletion |
Hereditary spastic paraplegia 10 [RCV001250992] |
Chr12:57581527..57581529 [GRCh38] Chr12:57975310..57975312 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.1378C>T (p.Arg460Ter) |
single nucleotide variant |
not provided [RCV001267900] |
Chr12:57572076 [GRCh38] Chr12:57965859 [GRCh37] Chr12:12q13.3 |
pathogenic |
NM_004984.4(KIF5A):c.2939C>T (p.Ala980Val) |
single nucleotide variant |
Inborn genetic diseases [RCV001266188] |
Chr12:57581899 [GRCh38] Chr12:57975682 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2613_2614del (p.Arg871fs) |
microsatellite |
not provided [RCV001268331] |
Chr12:57581025..57581026 [GRCh38] Chr12:57974808..57974809 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.2811del (p.Thr938fs) |
deletion |
not provided [RCV001268572] |
Chr12:57581470 [GRCh38] Chr12:57975253 [GRCh37] Chr12:12q13.3 |
pathogenic |
NM_004984.4(KIF5A):c.2755+1G>T |
single nucleotide variant |
not provided [RCV001268588] |
Chr12:57581173 [GRCh38] Chr12:57974956 [GRCh37] Chr12:12q13.3 |
likely pathogenic |
NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter) |
single nucleotide variant |
not provided [RCV001268732] |
Chr12:57572646 [GRCh38] Chr12:57966429 [GRCh37] Chr12:12q13.3 |
pathogenic |
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp) |
single nucleotide variant |
not provided [RCV001287991] |
Chr12:57572127 [GRCh38] Chr12:57965910 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.832C>T (p.Pro278Ser) |
single nucleotide variant |
Myoclonus, intractable, neonatal [RCV001262254] |
Chr12:57569268 [GRCh38] Chr12:57963051 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1213A>G (p.Ile405Val) |
single nucleotide variant |
Spastic paraplegia [RCV001341947] |
Chr12:57570082 [GRCh38] Chr12:57963865 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1240C>T (p.Arg414Trp) |
single nucleotide variant |
Myoclonus, intractable, neonatal [RCV001333332] |
Chr12:57570109 [GRCh38] Chr12:57963892 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.514C>T (p.Arg172Cys) |
single nucleotide variant |
Spastic paraplegia [RCV001325879] |
Chr12:57567138 [GRCh38] Chr12:57960921 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.772T>C (p.Ser258Pro) |
single nucleotide variant |
Spastic paraplegia [RCV001337227] |
Chr12:57569020 [GRCh38] Chr12:57962803 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.597T>G (p.Asn199Lys) |
single nucleotide variant |
Spastic paraplegia [RCV001316629] |
Chr12:57567501 [GRCh38] Chr12:57961284 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001295024] |
Chr12:57576363 [GRCh38] Chr12:57970146 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1390G>A (p.Glu464Lys) |
single nucleotide variant |
Spastic paraplegia [RCV001297214] |
Chr12:57572088 [GRCh38] Chr12:57965871 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1710T>G (p.Ile570Met) |
single nucleotide variant |
Hereditary spastic paraplegia 10 [RCV001331327] |
Chr12:57572720 [GRCh38] Chr12:57966503 [GRCh37] Chr12:12q13.3 |
uncertain significance |
NM_004984.4(KIF5A):c.1995C>T (p.Ser665=) |
single nucleotide variant |
not provided [RCV001310997] |
Chr12:57575729 [GRCh38] Chr12:57969512 [GRCh37] Chr12:12q13.3 |
likely benign |
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp) |
single nucleotide variant |
Spastic paraplegia [RCV001326525] |
Chr12:57572613 [GRCh38] Chr12:57966396 [GRCh37] Chr12:12q13.3 |
uncertain significance |