NM_015158.5(KANK1):c.38-178A>C |
single nucleotide variant |
not provided [RCV001766280] |
Chr9:710626 [GRCh38] Chr9:710626 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.385C>T (p.Leu129Phe) |
single nucleotide variant |
not provided [RCV000523927] |
Chr9:711151 [GRCh38] Chr9:711151 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.12:g.(606181_654801)_831563del |
deletion |
Cerebral palsy, spastic quadriplegic, 2 [RCV000003042] |
Chr9:654801..831563 [GRCh38] Chr9:9p24.3 |
pathogenic |
NM_015158.5(KANK1):c.255A>G (p.Ile85Met) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002499750]|not provided [RCV001367537] |
Chr9:711021 [GRCh38] Chr9:711021 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3117_3122dup (p.1039ED[3]) |
duplication |
not provided [RCV000723056] |
Chr9:732486..732487 [GRCh38] Chr9:732486..732487 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3112G>T (p.Glu1038Ter) |
single nucleotide variant |
not provided [RCV000723059] |
Chr9:732484 [GRCh38] Chr9:732484 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1576dup (p.Met526fs) |
duplication |
not provided [RCV000723107] |
Chr9:712339..712340 [GRCh38] Chr9:712339..712340 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3202C>T (p.Gln1068Ter) |
single nucleotide variant |
not provided [RCV000578682] |
Chr9:732574 [GRCh38] Chr9:732574 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 |
copy number gain |
See cases [RCV000050357] |
Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000050348] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 |
copy number loss |
See cases [RCV000050831] |
Chr9:204193..13974100 [GRCh38] Chr9:204193..13974099 [GRCh37] Chr9:194193..13964099 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:204193-1288113)x3 |
copy number gain |
See cases [RCV000050695] |
Chr9:204193..1288113 [GRCh38] Chr9:204193..1288113 [GRCh37] Chr9:194193..1278113 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:204193-1516367)x1 |
copy number loss |
See cases [RCV000050611] |
Chr9:204193..1516367 [GRCh38] Chr9:204193..1516367 [GRCh37] Chr9:194193..1506367 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1 |
copy number loss |
See cases [RCV000051039] |
Chr9:220253..3793376 [GRCh38] Chr9:220253..3793376 [GRCh37] Chr9:210253..3783376 [NCBI36] Chr9:9p24.3-24.2 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 |
copy number gain |
See cases [RCV000051106] |
Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:203993-500725)x3 |
copy number gain |
See cases [RCV000052203] |
Chr9:203993..500725 [GRCh38] Chr9:203993..500725 [GRCh37] Chr9:193993..490725 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:472086-602792)x3 |
copy number gain |
See cases [RCV000052216] |
Chr9:472086..602792 [GRCh38] Chr9:472086..602792 [GRCh37] Chr9:462086..592792 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:220253-1243237)x1 |
copy number loss |
See cases [RCV000052845] |
Chr9:220253..1243237 [GRCh38] Chr9:220253..1243237 [GRCh37] Chr9:210253..1233237 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:313298-472145)x1 |
copy number loss |
See cases [RCV000052846] |
Chr9:313298..472145 [GRCh38] Chr9:313298..472145 [GRCh37] Chr9:303298..462145 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:556625-789845)x1 |
copy number loss |
See cases [RCV000052847] |
Chr9:556625..789845 [GRCh38] Chr9:556625..789845 [GRCh37] Chr9:546625..779845 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 |
copy number loss |
See cases [RCV000052856] |
Chr9:211087..13754567 [GRCh38] Chr9:211087..13754566 [GRCh37] Chr9:201087..13744566 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 |
copy number loss |
See cases [RCV000052858] |
Chr9:220253..6073001 [GRCh38] Chr9:220253..6073001 [GRCh37] Chr9:210253..6063001 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1 |
copy number loss |
See cases [RCV000052859] |
Chr9:220253..5140455 [GRCh38] Chr9:220253..5140455 [GRCh37] Chr9:210253..5130455 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 |
copy number loss |
See cases [RCV000052860] |
Chr9:220253..18073359 [GRCh38] Chr9:220253..18073357 [GRCh37] Chr9:210253..18063357 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 |
copy number loss |
See cases [RCV000052861] |
Chr9:220253..6968724 [GRCh38] Chr9:220253..6968724 [GRCh37] Chr9:210253..6958724 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1 |
copy number loss |
See cases [RCV000052862] |
Chr9:280255..3905421 [GRCh38] Chr9:280255..3905421 [GRCh37] Chr9:270255..3895421 [NCBI36] Chr9:9p24.3-24.2 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 |
copy number gain |
See cases [RCV000053703] |
Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 |
copy number gain |
See cases [RCV000053704] |
Chr9:204193..22086858 [GRCh38] Chr9:204193..22086857 [GRCh37] Chr9:194193..22076857 [NCBI36] Chr9:9p24.3-21.3 |
pathogenic |
GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3 |
copy number gain |
See cases [RCV000053705] |
Chr9:204193..3468435 [GRCh38] Chr9:204193..3468435 [GRCh37] Chr9:194193..3458435 [NCBI36] Chr9:9p24.3-24.2 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] |
Chr9:204193..34599437 [GRCh38] Chr9:204193..34599435 [GRCh37] Chr9:194193..34589435 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 |
copy number gain |
See cases [RCV000053745] |
Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 |
copy number gain |
See cases [RCV000053707] |
Chr9:204193..33284638 [GRCh38] Chr9:204193..33284636 [GRCh37] Chr9:194193..33274636 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|See cases [RCV000054328] |
Chr9:203993..4164349 [GRCh38] Chr9:203993..4164349 [GRCh37] Chr9:193993..4154349 [NCBI36] Chr9:9p24.3-24.2 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 |
copy number loss |
See cases [RCV000054331] |
Chr9:204193..10340779 [GRCh38] Chr9:204193..10340779 [GRCh37] Chr9:194193..10330779 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] |
Chr9:204193..12302772 [GRCh38] Chr9:204193..12302772 [GRCh37] Chr9:194193..12292772 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] |
Chr9:204193..13276053 [GRCh38] Chr9:204193..13276052 [GRCh37] Chr9:194193..13266052 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] |
Chr9:204193..9363321 [GRCh38] Chr9:204193..9363321 [GRCh37] Chr9:194193..9353321 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] |
Chr9:204193..13454719 [GRCh38] Chr9:204193..13454718 [GRCh37] Chr9:194193..13444718 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 |
copy number loss |
See cases [RCV000054340] |
Chr9:211086..6106482 [GRCh38] Chr9:211086..6106482 [GRCh37] Chr9:201086..6096482 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 |
copy number loss |
See cases [RCV000054341] |
Chr9:211086..11867480 [GRCh38] Chr9:211086..11867480 [GRCh37] Chr9:201086..11857480 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 |
copy number loss |
See cases [RCV000054315] |
Chr9:111216..14650762 [GRCh38] Chr9:111216..14650760 [GRCh37] Chr9:101216..14640760 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 |
copy number loss |
See cases [RCV000054316] |
Chr9:195399..11081440 [GRCh38] Chr9:199707..11081440 [GRCh37] Chr9:182102..11071440 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] |
Chr9:203993..13753101 [GRCh38] Chr9:203993..13753100 [GRCh37] Chr9:193993..13743100 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 |
copy number loss |
See cases [RCV000054327] |
Chr9:203993..12621562 [GRCh38] Chr9:203993..12621562 [GRCh37] Chr9:193993..12611562 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 |
copy number gain |
See cases [RCV000053746] |
Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 |
copy number gain |
See cases [RCV000053747] |
Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] |
Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 |
copy number gain |
not provided [RCV000848175] |
Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
NM_015158.5(KANK1):c.633G>C (p.Gln211His) |
single nucleotide variant |
not provided [RCV000514287] |
Chr9:711399 [GRCh38] Chr9:711399 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1801G>A (p.Glu601Lys) |
single nucleotide variant |
not provided [RCV000515083] |
Chr9:712567 [GRCh38] Chr9:712567 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3554-10_3554-5del |
deletion |
not provided [RCV000514909] |
Chr9:740770..740775 [GRCh38] Chr9:740772..740777 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 |
copy number loss |
See cases [RCV000133873] |
Chr9:204193..10473327 [GRCh38] Chr9:204193..10473327 [GRCh37] Chr9:194193..10463327 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 |
copy number loss |
See cases [RCV000133825] |
Chr9:204193..18073359 [GRCh38] Chr9:204193..18073357 [GRCh37] Chr9:194193..18063357 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) |
copy number gain |
See cases [RCV000133791] |
Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 |
copy number loss |
See cases [RCV000133728] |
Chr9:204193..10164955 [GRCh38] Chr9:204193..10164955 [GRCh37] Chr9:194193..10154955 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1 |
copy number loss |
See cases [RCV000134138] |
Chr9:204193..4210335 [GRCh38] Chr9:204193..4210335 [GRCh37] Chr9:194193..4200335 [NCBI36] Chr9:9p24.3-24.2 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:204090-639077)x3 |
copy number gain |
See cases [RCV000133932] |
Chr9:204090..639077 [GRCh38] Chr9:204090..639077 [GRCh37] Chr9:194090..629077 [NCBI36] Chr9:9p24.3 |
benign |
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 |
copy number gain |
See cases [RCV000134037] |
Chr9:220257..29424848 [GRCh38] Chr9:220257..29424846 [GRCh37] Chr9:210257..29414846 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 |
copy number loss |
See cases [RCV000134126] |
Chr9:204090..13146846 [GRCh38] Chr9:204090..13146845 [GRCh37] Chr9:194090..13136845 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 |
copy number loss |
See cases [RCV000133923] |
Chr9:204193..11277770 [GRCh38] Chr9:204193..11277770 [GRCh37] Chr9:194193..11267770 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 |
copy number gain |
See cases [RCV000135344] |
Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:329684-500525)x3 |
copy number gain |
See cases [RCV000135109] |
Chr9:329684..500525 [GRCh38] Chr9:329684..500525 [GRCh37] Chr9:319684..490525 [NCBI36] Chr9:9p24.3 |
benign |
GRCh38/hg38 9p24.3(chr9:534531-805606)x3 |
copy number gain |
See cases [RCV000135234] |
Chr9:534531..805606 [GRCh38] Chr9:534531..805606 [GRCh37] Chr9:524531..795606 [NCBI36] Chr9:9p24.3 |
likely benign |
GRCh38/hg38 9p24.3(chr9:280255-753314)x1 |
copy number loss |
See cases [RCV000135814] |
Chr9:280255..753314 [GRCh38] Chr9:280255..753314 [GRCh37] Chr9:270255..743314 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 |
copy number loss |
See cases [RCV000135660] |
Chr9:220253..18708805 [GRCh38] Chr9:220253..18708803 [GRCh37] Chr9:210253..18698803 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:556625-703693)x1 |
copy number loss |
See cases [RCV000135841] |
Chr9:556625..703693 [GRCh38] Chr9:556625..703693 [GRCh37] Chr9:546625..693693 [NCBI36] Chr9:9p24.3 |
pathogenic |
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 |
copy number loss |
See cases [RCV000135694] |
Chr9:204104..18882281 [GRCh38] Chr9:204104..18882279 [GRCh37] Chr9:194104..18872279 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 |
copy number loss |
See cases [RCV000135434] |
Chr9:220253..8866675 [GRCh38] Chr9:220253..8866675 [GRCh37] Chr9:210253..8856675 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 |
copy number loss |
See cases [RCV000135544] |
Chr9:204193..6968724 [GRCh38] Chr9:204193..6968724 [GRCh37] Chr9:194193..6958724 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 |
copy number loss |
See cases [RCV000135563] |
Chr9:204193..10852686 [GRCh38] Chr9:204193..10852686 [GRCh37] Chr9:194193..10842686 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 |
copy number gain |
See cases [RCV000136152] |
Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 |
copy number loss |
See cases [RCV000135935] |
Chr9:204104..11298187 [GRCh38] Chr9:204104..11298187 [GRCh37] Chr9:194104..11288187 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 |
copy number gain |
See cases [RCV000135954] |
Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 |
copy number loss |
See cases [RCV000136859] |
Chr9:214367..16307944 [GRCh38] Chr9:214367..16307942 [GRCh37] Chr9:204367..16297942 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 |
copy number loss |
See cases [RCV000136966] |
Chr9:204193..11435662 [GRCh38] Chr9:204193..11435662 [GRCh37] Chr9:194193..11425662 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:314969-910448)x4 |
copy number gain |
See cases [RCV000136638] |
Chr9:314969..910448 [GRCh38] Chr9:314969..910448 [GRCh37] Chr9:304969..900448 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:204193-1592365)x1 |
copy number loss |
See cases [RCV000136667] |
Chr9:204193..1592365 [GRCh38] Chr9:204193..1592365 [GRCh37] Chr9:194193..1582365 [NCBI36] Chr9:9p24.3 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 |
copy number loss |
See cases [RCV000137669] |
Chr9:204104..14182668 [GRCh38] Chr9:204104..14182667 [GRCh37] Chr9:194104..14172667 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 |
copy number loss |
See cases [RCV000137455] |
Chr9:204104..8266492 [GRCh38] Chr9:204104..8266492 [GRCh37] Chr9:194104..8256492 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:706283-1457665)x3 |
copy number gain |
See cases [RCV000137323] |
Chr9:706283..1457665 [GRCh38] Chr9:706283..1457665 [GRCh37] Chr9:696283..1447665 [NCBI36] Chr9:9p24.3 |
likely benign |
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 |
copy number gain |
See cases [RCV000137382] |
Chr9:204104..11610300 [GRCh38] Chr9:204104..11610300 [GRCh37] Chr9:194104..11600300 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 |
copy number loss |
See cases [RCV000137376] |
Chr9:204104..5695507 [GRCh38] Chr9:204104..5695507 [GRCh37] Chr9:194104..5685507 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 |
copy number loss |
See cases [RCV000138118] |
Chr9:204104..5657733 [GRCh38] Chr9:204104..5657733 [GRCh37] Chr9:194104..5647733 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 |
copy number loss |
See cases [RCV000138119] |
Chr9:204104..10023901 [GRCh38] Chr9:204104..10023901 [GRCh37] Chr9:194104..10013901 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 |
copy number gain |
See cases [RCV000137888] |
Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 |
copy number loss |
See cases [RCV000137745] |
Chr9:204104..7133443 [GRCh38] Chr9:204104..7133443 [GRCh37] Chr9:194104..7123443 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1 |
copy number loss |
See cases [RCV000137914] |
Chr9:204104..3755031 [GRCh38] Chr9:204104..3755031 [GRCh37] Chr9:194104..3745031 [NCBI36] Chr9:9p24.3-24.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 |
copy number gain |
See cases [RCV000138783] |
Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:579739-753199)x3 |
copy number gain |
See cases [RCV000138686] |
Chr9:579739..753199 [GRCh38] Chr9:579739..753199 [GRCh37] Chr9:569739..743199 [NCBI36] Chr9:9p24.3 |
benign|likely benign|conflicting data from submitters |
NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly) |
single nucleotide variant |
not provided [RCV000514494] |
Chr9:712526 [GRCh38] Chr9:712526 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
GRCh38/hg38 9p24.3(chr9:639018-753199)x1 |
copy number loss |
See cases [RCV000138498] |
Chr9:639018..753199 [GRCh38] Chr9:639018..753199 [GRCh37] Chr9:629018..743199 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 |
copy number gain |
See cases [RCV000138499] |
Chr9:459131..24207894 [GRCh38] Chr9:459131..24207892 [GRCh37] Chr9:449131..24197892 [NCBI36] Chr9:9p24.3-21.3 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:204104-1457665)x1 |
copy number loss |
See cases [RCV000138306] |
Chr9:204104..1457665 [GRCh38] Chr9:204104..1457665 [GRCh37] Chr9:194104..1447665 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 |
copy number gain |
See cases [RCV000139208] |
Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:325759-500607)x3 |
copy number gain |
See cases [RCV000139209] |
Chr9:325759..500607 [GRCh38] Chr9:325759..500607 [GRCh37] Chr9:315759..490607 [NCBI36] Chr9:9p24.3 |
benign |
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 |
copy number gain |
See cases [RCV000139015] |
Chr9:204104..34151476 [GRCh38] Chr9:204104..34151474 [GRCh37] Chr9:194104..34141474 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic|likely benign |
GRCh38/hg38 9p24.3(chr9:459131-862833)x3 |
copy number gain |
See cases [RCV000139154] |
Chr9:459131..862833 [GRCh38] Chr9:459131..862833 [GRCh37] Chr9:449131..852833 [NCBI36] Chr9:9p24.3 |
benign |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000138962] |
Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3(chr9:349034-862771)x3 |
copy number gain |
See cases [RCV000140409] |
Chr9:349034..862771 [GRCh38] Chr9:349034..862771 [GRCh37] Chr9:339034..852771 [NCBI36] Chr9:9p24.3 |
likely benign |
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 |
copy number loss |
See cases [RCV000140410] |
Chr9:204104..6322471 [GRCh38] Chr9:204104..6322471 [GRCh37] Chr9:194104..6312471 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 |
copy number loss |
See cases [RCV000139566] |
Chr9:204090..9282864 [GRCh38] Chr9:204090..9282864 [GRCh37] Chr9:194090..9272864 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 |
copy number gain |
See cases [RCV000139621] |
Chr9:204104..27963369 [GRCh38] Chr9:204104..27963367 [GRCh37] Chr9:194104..27953367 [NCBI36] Chr9:9p24.3-21.2 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 |
copy number loss |
See cases [RCV000141407] |
Chr9:185579..7635806 [GRCh38] Chr9:185579..7635806 [GRCh37] Chr9:175579..7625806 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 |
copy number loss |
See cases [RCV000141408] |
Chr9:211086..11457340 [GRCh38] Chr9:211086..11457340 [GRCh37] Chr9:201086..11447340 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:203861-547543)x3 |
copy number gain |
See cases [RCV000140896] |
Chr9:203861..547543 [GRCh38] Chr9:203861..547543 [GRCh37] Chr9:193861..537543 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:592076-694567)x1 |
copy number loss |
See cases [RCV000140898] |
Chr9:592076..694567 [GRCh38] Chr9:592076..694567 [GRCh37] Chr9:582076..684567 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 |
copy number loss |
See cases [RCV000140601] |
Chr9:211086..7444397 [GRCh38] Chr9:211086..7444397 [GRCh37] Chr9:201086..7434397 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 |
copy number gain |
See cases [RCV000141904] |
Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 |
copy number gain |
See cases [RCV000141876] |
Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:409397-560630)x1 |
copy number loss |
See cases [RCV000141954] |
Chr9:409397..560630 [GRCh38] Chr9:409397..560630 [GRCh37] Chr9:399397..550630 [NCBI36] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2486G>A (p.Arg829His) |
single nucleotide variant |
not provided [RCV001853269]|not specified [RCV000203061] |
Chr9:713252 [GRCh38] Chr9:713252 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 |
copy number gain |
See cases [RCV000141662] |
Chr9:203861..31423873 [GRCh38] Chr9:203861..31423871 [GRCh37] Chr9:193861..31413871 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:611189-705931)x1 |
copy number loss |
See cases [RCV000141775] |
Chr9:611189..705931 [GRCh38] Chr9:611189..705931 [GRCh37] Chr9:601189..695931 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 |
copy number loss |
See cases [RCV000141442] |
Chr9:322690..16401656 [GRCh38] Chr9:322690..16401654 [GRCh37] Chr9:312690..16391654 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1 |
copy number loss |
See cases [RCV000142301] |
Chr9:203861..4585050 [GRCh38] Chr9:203861..4585050 [GRCh37] Chr9:193861..4575050 [NCBI36] Chr9:9p24.3-24.2 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 |
copy number loss |
See cases [RCV000142074] |
Chr9:203861..8172957 [GRCh38] Chr9:203861..8172957 [GRCh37] Chr9:193861..8162957 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3(chr9:608682-705931)x1 |
copy number loss |
See cases [RCV000142083] |
Chr9:608682..705931 [GRCh38] Chr9:608682..705931 [GRCh37] Chr9:598682..695931 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:396379-1198422)x3 |
copy number gain |
See cases [RCV000142094] |
Chr9:396379..1198422 [GRCh38] Chr9:396379..1198422 [GRCh37] Chr9:386379..1188422 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:608682-705168)x1 |
copy number loss |
See cases [RCV000142158] |
Chr9:608682..705168 [GRCh38] Chr9:608682..705168 [GRCh37] Chr9:598682..695168 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3 |
copy number gain |
See cases [RCV000142816] |
Chr9:204090..4970154 [GRCh38] Chr9:204090..4970154 [GRCh37] Chr9:194090..4960154 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 |
copy number loss |
See cases [RCV000142964] |
Chr9:204090..15260600 [GRCh38] Chr9:204090..15260598 [GRCh37] Chr9:194090..15250598 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 |
copy number gain |
See cases [RCV000143012] |
Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 |
copy number loss |
See cases [RCV000142688] |
Chr9:220253..7733826 [GRCh38] Chr9:220253..7733826 [GRCh37] Chr9:210253..7723826 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1 |
copy number loss |
See cases [RCV000142630] |
Chr9:266045..3346702 [GRCh38] Chr9:266045..3346702 [GRCh37] Chr9:256045..3336702 [NCBI36] Chr9:9p24.3-24.2 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) |
copy number gain |
See cases [RCV000143411] |
Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1 |
copy number loss |
See cases [RCV000143637] |
Chr9:203861..5094461 [GRCh38] Chr9:203861..5094461 [GRCh37] Chr9:193861..5084461 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 |
copy number gain |
See cases [RCV000143476] |
Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000148113] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 |
copy number gain |
See cases [RCV000148159] |
Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000139207] |
Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
NM_153186.4(KANK1):c.-312435_-438+216dup |
duplication |
Normal pregnancy [RCV000161557] |
Chr9:395250..707463 [GRCh38] Chr9:395250..707463 [GRCh37] Chr9:9p24.3 |
not provided |
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) |
copy number gain |
Bradycardia [RCV002280662] |
Chr9:203861..68342786 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
NM_015158.5(KANK1):c.3992C>G (p.Ser1331Cys) |
single nucleotide variant |
Abnormality of neuronal migration [RCV000201344] |
Chr9:744585 [GRCh38] Chr9:744585 [GRCh37] Chr9:9p24.3 |
benign|uncertain significance |
NM_015158.5(KANK1):c.5del (p.Ala2fs) |
deletion |
Abnormality of neuronal migration [RCV000201405] |
Chr9:676977 [GRCh38] Chr9:676977 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2725T>G (p.Cys909Gly) |
single nucleotide variant |
not provided [RCV000891895] |
Chr9:730077 [GRCh38] Chr9:730077 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 |
copy number gain |
See cases [RCV000240201] |
Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 |
copy number loss |
See cases [RCV000239799] |
Chr9:13997..11376705 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
NM_015158.5(KANK1):c.1360G>A (p.Glu454Lys) |
single nucleotide variant |
not provided [RCV000515615] |
Chr9:712126 [GRCh38] Chr9:712126 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3554-5T>A |
single nucleotide variant |
not provided [RCV000969037]|not specified [RCV000239038] |
Chr9:740787 [GRCh38] Chr9:740787 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 |
copy number gain |
See cases [RCV000239869] |
Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 |
copy number gain |
See cases [RCV000240081] |
Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002481716]|KANK1- Related Disorder [RCV000709863]|not provided [RCV000521449] |
Chr9:712577 [GRCh38] Chr9:712577 [GRCh37] Chr9:9p24.3 |
uncertain significance|not provided |
GRCh37/hg19 9p24.3(chr9:691104-1063787)x1 |
copy number loss |
not specified [RCV000515655] |
Chr9:691104..1063787 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 |
copy number gain |
See cases [RCV000240225] |
Chr9:213161..19450250 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
NM_015158.5(KANK1):c.3130C>T (p.Arg1044Trp) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002494893]|not provided [RCV000259968] |
Chr9:732502 [GRCh38] Chr9:732502 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1417G>A (p.Glu473Lys) |
single nucleotide variant |
not provided [RCV000300034] |
Chr9:712183 [GRCh38] Chr9:712183 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002489197]|not provided [RCV000489460] |
Chr9:712418 [GRCh38] Chr9:712418 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3361G>T (p.Glu1121Ter) |
single nucleotide variant |
not provided [RCV000723058] |
Chr9:738312 [GRCh38] Chr9:738312 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1791del (p.Ser598fs) |
deletion |
not provided [RCV000722487] |
Chr9:712557 [GRCh38] Chr9:712557 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.972T>A (p.Tyr324Ter) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002506441]|not provided [RCV000597072] |
Chr9:711738 [GRCh38] Chr9:711738 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1469_1470del (p.Gln490fs) |
deletion |
not provided [RCV000599285] |
Chr9:712235..712236 [GRCh38] Chr9:712235..712236 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1579G>A (p.Val527Ile) |
single nucleotide variant |
not provided [RCV000522345] |
Chr9:712345 [GRCh38] Chr9:712345 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser) |
single nucleotide variant |
KANK1-related condition [RCV003980113]|not provided [RCV000598173] |
Chr9:710861 [GRCh38] Chr9:710861 [GRCh37] Chr9:9p24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015158.5(KANK1):c.876dup (p.Val293fs) |
duplication |
not provided [RCV000627490] |
Chr9:711641..711642 [GRCh38] Chr9:711641..711642 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.565G>A (p.Gly189Ser) |
single nucleotide variant |
KANK1-related condition [RCV003935628]|not provided [RCV000906302]|not specified [RCV000594868] |
Chr9:711331 [GRCh38] Chr9:711331 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3237C>G (p.Ile1079Met) |
single nucleotide variant |
Abnormal brain morphology [RCV000454209] |
Chr9:732609 [GRCh38] Chr9:732609 [GRCh37] Chr9:9p24.3 |
likely pathogenic |
GRCh37/hg19 9p24.3(chr9:498269-566624)x1 |
copy number loss |
See cases [RCV000447100] |
Chr9:498269..566624 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 |
copy number loss |
See cases [RCV000446597] |
Chr9:203861..15211277 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:611150-694567)x1 |
copy number loss |
See cases [RCV000446112] |
Chr9:611150..694567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 |
copy number loss |
See cases [RCV000447358] |
Chr9:203861..5909152 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 |
copy number gain |
See cases [RCV000446521] |
Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 |
copy number loss |
See cases [RCV000447415] |
Chr9:203861..16925108 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:414668-703634)x3 |
copy number gain |
See cases [RCV000446461] |
Chr9:414668..703634 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 |
copy number loss |
See cases [RCV000447144] |
Chr9:203861..14322268 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 |
copy number loss |
See cases [RCV000446566] |
Chr9:203861..16670878 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 |
copy number loss |
See cases [RCV000445963] |
Chr9:203861..16856907 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
NM_015158.5(KANK1):c.2896+18C>T |
single nucleotide variant |
not provided [RCV000515057] |
Chr9:730266 [GRCh38] Chr9:730266 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV003105894]|not provided [RCV000430887]|not specified [RCV000598207] |
Chr9:710915 [GRCh38] Chr9:710915 [GRCh37] Chr9:9p24.3 |
benign|likely benign|uncertain significance |
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 |
copy number loss |
See cases [RCV000445998] |
Chr9:213161..17496750 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
NM_015158.5(KANK1):c.2479A>G (p.Ile827Val) |
single nucleotide variant |
not provided [RCV000441945] |
Chr9:713245 [GRCh38] Chr9:713245 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:327733-739194)x3 |
copy number gain |
See cases [RCV000448002] |
Chr9:327733..739194 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:453133-516638)x1 |
copy number loss |
See cases [RCV000448485] |
Chr9:453133..516638 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.2(chr9:213161-3497920)x1 |
copy number loss |
See cases [RCV000448791] |
Chr9:213161..3497920 [GRCh37] Chr9:9p24.3-24.2 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 |
copy number loss |
See cases [RCV000448147] |
Chr9:203861..11414732 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 |
copy number loss |
See cases [RCV000448304] |
Chr9:203861..8735462 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 |
copy number gain |
See cases [RCV000448569] |
Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 |
copy number gain |
See cases [RCV000448978] |
Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 |
copy number gain |
See cases [RCV000448242] |
Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:512004-706265)x1 |
copy number loss |
See cases [RCV000448392] |
Chr9:512004..706265 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2933T>C (p.Met978Thr) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV000477905] |
Chr9:731194 [GRCh38] Chr9:731194 [GRCh37] Chr9:9p24.3 |
likely pathogenic|uncertain significance |
NM_015158.5(KANK1):c.1038C>G (p.Tyr346Ter) |
single nucleotide variant |
not provided [RCV001861660]|not specified [RCV000455643] |
Chr9:711804 [GRCh38] Chr9:711804 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 |
copy number loss |
See cases [RCV000512122] |
Chr9:203861..17125893 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:460071-516638)x3 |
copy number gain |
See cases [RCV000510368] |
Chr9:460071..516638 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:309052-518538)x3 |
copy number gain |
See cases [RCV000510591] |
Chr9:309052..518538 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:525953-820485)x3 |
copy number gain |
See cases [RCV000510400] |
Chr9:525953..820485 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-498236)x4 |
copy number gain |
See cases [RCV000512021] |
Chr9:203861..498236 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3(chr9:402279-516638)x3 |
copy number gain |
See cases [RCV000511976] |
Chr9:402279..516638 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3(chr9:608595-694567)x1 |
copy number loss |
See cases [RCV000511442] |
Chr9:608595..694567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:611150-694567)x1 |
copy number loss |
See cases [RCV000511790] |
Chr9:611150..694567 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3(chr9:314208-518499)x3 |
copy number gain |
See cases [RCV000511908] |
Chr9:314208..518499 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:608682-694567)x1 |
copy number loss |
See cases [RCV000511754] |
Chr9:608682..694567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 |
copy number loss |
See cases [RCV000511432] |
Chr9:203861..13486759 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:203861-1677474)x3 |
copy number gain |
See cases [RCV000511819] |
Chr9:203861..1677474 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:526008-813180)x3 |
copy number gain |
See cases [RCV000511581] |
Chr9:526008..813180 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:637962-678832)x1 |
copy number loss |
See cases [RCV000511642] |
Chr9:637962..678832 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:314208-518103)x3 |
copy number gain |
See cases [RCV000511783] |
Chr9:314208..518103 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3(chr9:399333-740132)x3 |
copy number gain |
See cases [RCV000510800] |
Chr9:399333..740132 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:249920-540091)x3 |
copy number gain |
See cases [RCV000511043] |
Chr9:249920..540091 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:533325-635302)x3 |
copy number gain |
See cases [RCV000511198] |
Chr9:533325..635302 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:388166-512005)x3 |
copy number gain |
See cases [RCV000511117] |
Chr9:388166..512005 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-584635)x3 |
copy number gain |
See cases [RCV000511136] |
Chr9:203861..584635 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:407226-566020)x3 |
copy number gain |
See cases [RCV000510903] |
Chr9:407226..566020 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 |
copy number loss |
See cases [RCV000510944] |
Chr9:203861..17655298 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 |
copy number gain |
See cases [RCV000510864] |
Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 |
copy number gain |
See cases [RCV000510843] |
Chr9:203861..10700288 [GRCh37] Chr9:9p24.3-23 |
likely pathogenic |
GRCh37/hg19 9p24.3(chr9:203861-1672167)x3 |
copy number gain |
See cases [RCV000511277] |
Chr9:203861..1672167 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:269430-694567)x3 |
copy number gain |
See cases [RCV000510953] |
Chr9:269430..694567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV000723309] |
Chr9:710896 [GRCh38] Chr9:710896 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1735G>A (p.Asp579Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003272557] |
Chr9:712501 [GRCh38] Chr9:712501 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 |
copy number gain |
Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] |
Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
NM_015158.5(KANK1):c.38-3361G>A |
single nucleotide variant |
not provided [RCV003312729] |
Chr9:707443 [GRCh38] Chr9:707443 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1490C>G (p.Ser497Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003286125] |
Chr9:712256 [GRCh38] Chr9:712256 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3446A>G (p.Asp1149Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003303807] |
Chr9:738397 [GRCh38] Chr9:738397 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3220C>T (p.Pro1074Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003254365] |
Chr9:732592 [GRCh38] Chr9:732592 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2885C>T (p.Ala962Val) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV000655956] |
Chr9:730237 [GRCh38] Chr9:730237 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1885G>C (p.Gly629Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003280392] |
Chr9:712651 [GRCh38] Chr9:712651 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-519592)x3 |
copy number gain |
See cases [RCV000512260] |
Chr9:203861..519592 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:635338-685819)x1 |
copy number loss |
See cases [RCV000512222] |
Chr9:635338..685819 [GRCh37] Chr9:9p24.3 |
conflicting data from submitters |
GRCh37/hg19 9p24.3-24.1(chr9:203861-5081516)x1 |
copy number loss |
See cases [RCV000512311] |
Chr9:203861..5081516 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:525750-813180)x4 |
copy number gain |
See cases [RCV000512330] |
Chr9:525750..813180 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 |
copy number gain |
See cases [RCV000512431] |
Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:637963-1138636)x3 |
copy number gain |
See cases [RCV000512377] |
Chr9:637963..1138636 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3(chr9:507002-568398)x1 |
copy number loss |
See cases [RCV000512386] |
Chr9:507002..568398 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) |
copy number gain |
See cases [RCV000512392] |
Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:273651-665516)x3 |
copy number gain |
See cases [RCV000512572] |
Chr9:273651..665516 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:495124-728789)x3 |
copy number gain |
See cases [RCV000512589] |
Chr9:495124..728789 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3994C>T (p.Pro1332Ser) |
single nucleotide variant |
not provided [RCV003825305] |
Chr9:744587 [GRCh38] Chr9:744587 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.260C>A (p.Thr87Asn) |
single nucleotide variant |
not provided [RCV000659113] |
Chr9:711026 [GRCh38] Chr9:711026 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1697T>C (p.Met566Thr) |
single nucleotide variant |
not provided [RCV000659114] |
Chr9:712463 [GRCh38] Chr9:712463 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:735509-1270931)x3 |
copy number gain |
not provided [RCV000683128] |
Chr9:735509..1270931 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:512066-539674)x1 |
copy number loss |
not provided [RCV000683047] |
Chr9:512066..539674 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:245616-479740)x3 |
copy number gain |
not provided [RCV000683102] |
Chr9:245616..479740 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:608702-694567)x1 |
copy number loss |
not provided [RCV000683067] |
Chr9:608702..694567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 |
copy number gain |
not provided [RCV000683173] |
Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:203861-516638)x4 |
copy number gain |
not provided [RCV000683110] |
Chr9:203861..516638 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-525036)x1 |
copy number loss |
not provided [RCV000683112] |
Chr9:203861..525036 [GRCh37] Chr9:9p24.3 |
likely pathogenic |
GRCh37/hg19 9p24.3(chr9:314208-559164)x3 |
copy number gain |
not provided [RCV000683105] |
Chr9:314208..559164 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:525953-813198)x3 |
copy number gain |
not provided [RCV000683107] |
Chr9:525953..813198 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:294253-685819)x3 |
copy number gain |
not provided [RCV000683119] |
Chr9:294253..685819 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 |
copy number loss |
not provided [RCV000683166] |
Chr9:203861..9924905 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:608594-705931)x1 |
copy number loss |
not provided [RCV000683072] |
Chr9:608594..705931 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:242083-567615)x3 |
copy number gain |
not provided [RCV000683113] |
Chr9:242083..567615 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 |
copy number loss |
not provided [RCV000683162] |
Chr9:203861..7007586 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 |
copy number loss |
not provided [RCV000683164] |
Chr9:203861..9306658 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 |
copy number loss |
not provided [RCV000683167] |
Chr9:203861..11271239 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 |
copy number loss |
not provided [RCV000683168] |
Chr9:203861..14744606 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:203861-635302)x3 |
copy number gain |
not provided [RCV000683120] |
Chr9:203861..635302 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:322794-518499)x3 |
copy number gain |
not provided [RCV000683091] |
Chr9:322794..518499 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:416417-622360)x3 |
copy number gain |
not provided [RCV000683094] |
Chr9:416417..622360 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1 |
copy number loss |
not provided [RCV000683159] |
Chr9:203861..4959039 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 |
copy number gain |
not provided [RCV000683170] |
Chr9:203861..20653468 [GRCh37] Chr9:9p24.3-21.3 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 |
copy number gain |
not provided [RCV000683174] |
Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 |
copy number gain |
not provided [RCV000683175] |
Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 |
copy number gain |
not provided [RCV000683176] |
Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 |
copy number gain |
not provided [RCV000683172] |
Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
NM_015158.5(KANK1):c.2686G>C (p.Gly896Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002569066]|not provided [RCV001573393] |
Chr9:713452 [GRCh38] Chr9:713452 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 |
copy number gain |
not provided [RCV000845900] |
Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 |
copy number gain |
not provided [RCV000748055] |
Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 |
copy number gain |
not provided [RCV000748053] |
Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1 |
copy number loss |
not provided [RCV000748059] |
Chr9:46587..5486856 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 |
copy number loss |
not provided [RCV000748060] |
Chr9:46587..12532584 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 |
copy number loss |
not provided [RCV000748061] |
Chr9:46587..13708607 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 |
copy number gain |
not provided [RCV000748062] |
Chr9:46587..22012051 [GRCh37] Chr9:9p24.3-21.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 |
copy number gain |
not provided [RCV000748063] |
Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 |
copy number gain |
not provided [RCV000748054] |
Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:326767-601493)x3 |
copy number gain |
not provided [RCV000748080] |
Chr9:326767..601493 [GRCh37] Chr9:9p24.3 |
benign |
GRCh37/hg19 9p24.3(chr9:564373-637031)x1 |
copy number loss |
not provided [RCV000748083] |
Chr9:564373..637031 [GRCh37] Chr9:9p24.3 |
benign |
GRCh37/hg19 9p24.3(chr9:581646-602986)x1 |
copy number loss |
not provided [RCV000748084] |
Chr9:581646..602986 [GRCh37] Chr9:9p24.3 |
benign |
GRCh37/hg19 9p24.3(chr9:641609-647785)x1 |
copy number loss |
not provided [RCV000748085] |
Chr9:641609..647785 [GRCh37] Chr9:9p24.3 |
benign |
GRCh37/hg19 9p24.3(chr9:643453-647862)x1 |
copy number loss |
not provided [RCV000748086] |
Chr9:643453..647862 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2825C>A (p.Ala942Asp) |
single nucleotide variant |
KANK1-related condition [RCV003926198]|not provided [RCV000963227] |
Chr9:730177 [GRCh38] Chr9:730177 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.38-174del |
deletion |
not provided [RCV001691110] |
Chr9:710630 [GRCh38] Chr9:710630 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.-83-319T>C |
single nucleotide variant |
not provided [RCV001691354] |
Chr9:676571 [GRCh38] Chr9:676571 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2699-79G>A |
single nucleotide variant |
not provided [RCV001681483] |
Chr9:729972 [GRCh38] Chr9:729972 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.37+80G>A |
single nucleotide variant |
not provided [RCV001647946] |
Chr9:677089 [GRCh38] Chr9:677089 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3554-11_3554-5del |
deletion |
not provided [RCV001681221] |
Chr9:740770..740776 [GRCh38] Chr9:740770..740776 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2896+90T>C |
single nucleotide variant |
not provided [RCV001665782] |
Chr9:730338 [GRCh38] Chr9:730338 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.-83-321C>T |
single nucleotide variant |
not provided [RCV001666254] |
Chr9:676569 [GRCh38] Chr9:676569 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.978G>A (p.Ala326=) |
single nucleotide variant |
not provided [RCV000982441] |
Chr9:711744 [GRCh38] Chr9:711744 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2091C>T (p.Asn697=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479075]|KANK1-related condition [RCV003942875]|not provided [RCV000926599] |
Chr9:712857 [GRCh38] Chr9:712857 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.206C>T (p.Pro69Leu) |
single nucleotide variant |
not provided [RCV000883274]|not specified [RCV001729731] |
Chr9:710972 [GRCh38] Chr9:710972 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.2064G>A (p.Thr688=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002495569]|not provided [RCV000928090] |
Chr9:712830 [GRCh38] Chr9:712830 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3554-4dup |
duplication |
not provided [RCV000883880] |
Chr9:740787..740788 [GRCh38] Chr9:740787..740788 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.804C>T (p.Ala268=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002507550]|not provided [RCV000879626] |
Chr9:711570 [GRCh38] Chr9:711570 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.3553+5G>A |
single nucleotide variant |
not provided [RCV000947148] |
Chr9:738509 [GRCh38] Chr9:738509 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3834= (p.Gly1278=) |
variation |
not provided [RCV000950173] |
Chr9:742342 [GRCh38] Chr9:742342 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2202G>T (p.Arg734=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479122]|KANK1-related condition [RCV003897947]|not provided [RCV000966208] |
Chr9:712968 [GRCh38] Chr9:712968 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3609G>A (p.Ala1203=) |
single nucleotide variant |
KANK1-related condition [RCV003936118]|not provided [RCV000971328] |
Chr9:740847 [GRCh38] Chr9:740847 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.561T>C (p.Phe187=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002487977]|not provided [RCV000906515] |
Chr9:711327 [GRCh38] Chr9:711327 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1377G>A (p.Gln459=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002501365]|not provided [RCV000879627] |
Chr9:712143 [GRCh38] Chr9:712143 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.3696+4A>G |
single nucleotide variant |
not provided [RCV000967112] |
Chr9:740938 [GRCh38] Chr9:740938 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.3878A>G (p.Asn1293Ser) |
single nucleotide variant |
KANK1-related condition [RCV003916269]|not provided [RCV000969038] |
Chr9:742386 [GRCh38] Chr9:742386 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1263C>T (p.Ser421=) |
single nucleotide variant |
not provided [RCV000981498] |
Chr9:712029 [GRCh38] Chr9:712029 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1011G>A (p.Arg337=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002505365]|not provided [RCV000921207] |
Chr9:711777 [GRCh38] Chr9:711777 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) |
copy number gain |
not provided [RCV000767644] |
Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 |
copy number gain |
not provided [RCV000845815] |
Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
NM_015158.5(KANK1):c.346A>G (p.Thr116Ala) |
single nucleotide variant |
not provided [RCV000965091] |
Chr9:711112 [GRCh38] Chr9:711112 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.2662C>G (p.Pro888Ala) |
single nucleotide variant |
not provided [RCV000919328] |
Chr9:713428 [GRCh38] Chr9:713428 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.593C>T (p.Ser198Phe) |
single nucleotide variant |
not provided [RCV000963920] |
Chr9:711359 [GRCh38] Chr9:711359 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1517T>C (p.Met506Thr) |
single nucleotide variant |
not provided [RCV000879628] |
Chr9:712283 [GRCh38] Chr9:712283 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3647T>C (p.Ile1216Thr) |
single nucleotide variant |
not provided [RCV000969554] |
Chr9:740885 [GRCh38] Chr9:740885 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.624C>G (p.Ala208=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002502715]|not provided [RCV000908478] |
Chr9:711390 [GRCh38] Chr9:711390 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.783G>A (p.Gln261=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002501494]|KANK1-related condition [RCV003958012]|not provided [RCV000894556] |
Chr9:711549 [GRCh38] Chr9:711549 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.564A>G (p.Gly188=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002505359]|not provided [RCV000918285] |
Chr9:711330 [GRCh38] Chr9:711330 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.195G>A (p.Lys65=) |
single nucleotide variant |
not provided [RCV000982429] |
Chr9:710961 [GRCh38] Chr9:710961 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser) |
single nucleotide variant |
KANK1-related condition [RCV003935966]|Rare genetic intellectual disability [RCV001257027]|not provided [RCV000963228] |
Chr9:742280 [GRCh38] Chr9:742280 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
NM_015158.5(KANK1):c.2847G>A (p.Thr949=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002501408]|not provided [RCV000884449] |
Chr9:730199 [GRCh38] Chr9:730199 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2113A>G (p.Lys705Glu) |
single nucleotide variant |
KANK1-related condition [RCV003895651]|not provided [RCV000929059] |
Chr9:712879 [GRCh38] Chr9:712879 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1491G>A (p.Ser497=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002495396]|not provided [RCV000891833] |
Chr9:712257 [GRCh38] Chr9:712257 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3493G>A (p.Ala1165Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003290158] |
Chr9:738444 [GRCh38] Chr9:738444 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1190A>G (p.Glu397Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003248745] |
Chr9:711956 [GRCh38] Chr9:711956 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:374830-489338)x1 |
copy number loss |
not provided [RCV001006177] |
Chr9:374830..489338 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:608682-705168)x1 |
copy number loss |
not provided [RCV000848286] |
Chr9:608682..705168 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:322793-518499)x3 |
copy number gain |
not provided [RCV000849501] |
Chr9:322793..518499 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-1539085)x1 |
copy number loss |
not provided [RCV000848099] |
Chr9:203861..1539085 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:525290-813180)x3 |
copy number gain |
not provided [RCV000848105] |
Chr9:525290..813180 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-573614)x3 |
copy number gain |
not provided [RCV000849538] |
Chr9:203861..573614 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.2(chr9:203861-2978707)x1 |
copy number loss |
not provided [RCV000849761] |
Chr9:203861..2978707 [GRCh37] Chr9:9p24.3-24.2 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:203861-1670196)x3 |
copy number gain |
not provided [RCV000846065] |
Chr9:203861..1670196 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:608682-694567)x1 |
copy number loss |
not provided [RCV000847330] |
Chr9:608682..694567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:525750-813180)x3 |
copy number gain |
not provided [RCV000847485] |
Chr9:525750..813180 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:516412-548426)x1 |
copy number loss |
not provided [RCV000848622] |
Chr9:516412..548426 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-573614)x3 |
copy number gain |
not provided [RCV000846466] |
Chr9:203861..573614 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-521085)x3 |
copy number gain |
not provided [RCV000845978] |
Chr9:203861..521085 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 |
copy number loss |
not provided [RCV000848063] |
Chr9:203861..11033228 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:314208-518499)x3 |
copy number gain |
not provided [RCV000847126] |
Chr9:314208..518499 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:403844-565917)x3 |
copy number gain |
not provided [RCV000847489] |
Chr9:403844..565917 [GRCh37] Chr9:9p24.3 |
uncertain significance |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787444] |
Chr9:611517..690998 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1991C>T (p.Ala664Val) |
single nucleotide variant |
not provided [RCV000896841] |
Chr9:712757 [GRCh38] Chr9:712757 [GRCh37] Chr9:9p24.3 |
benign |
GRCh37/hg19 9p24.3(chr9:203861-584635)x3 |
copy number gain |
not provided [RCV001006158] |
Chr9:203861..584635 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:694452-1413398)x3 |
copy number gain |
not provided [RCV001006181] |
Chr9:694452..1413398 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:439101-552093)x3 |
copy number gain |
not provided [RCV000847606] |
Chr9:439101..552093 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:488090-516638)x1 |
copy number loss |
not provided [RCV000847685] |
Chr9:488090..516638 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:309052-518499)x3 |
copy number gain |
not provided [RCV000848230] |
Chr9:309052..518499 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:611151-705528)x1 |
copy number loss |
not provided [RCV000848324] |
Chr9:611151..705528 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:608645-694567)x1 |
copy number loss |
not provided [RCV000848372] |
Chr9:608645..694567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-561925)x3 |
copy number gain |
not provided [RCV000848898] |
Chr9:203861..561925 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:608682-694567)x1 |
copy number loss |
not provided [RCV000848398] |
Chr9:608682..694567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:292083-534474)x3 |
copy number gain |
not provided [RCV000848426] |
Chr9:292083..534474 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:379523-742934)x3 |
copy number gain |
not provided [RCV000849897] |
Chr9:379523..742934 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:584086-706265)x3 |
copy number gain |
not provided [RCV000847370] |
Chr9:584086..706265 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-518499)x3 |
copy number gain |
not provided [RCV000849515] |
Chr9:203861..518499 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:661094-689472)x1 |
copy number loss |
not provided [RCV000847614] |
Chr9:661094..689472 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 |
copy number loss |
not provided [RCV001006164] |
Chr9:203861..10666419 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 |
copy number loss |
not provided [RCV001006165] |
Chr9:203861..14103730 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:438194-492354)x3 |
copy number gain |
not provided [RCV000845679] |
Chr9:438194..492354 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-1288574)x3 |
copy number gain |
not provided [RCV001006160] |
Chr9:203861..1288574 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:277844-1337835)x3 |
copy number gain |
not provided [RCV001006170] |
Chr9:277844..1337835 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:445993-622360)x3 |
copy number gain |
not provided [RCV000846831] |
Chr9:445993..622360 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:480919-706265)x1 |
copy number loss |
not provided [RCV000846854] |
Chr9:480919..706265 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 |
copy number loss |
not provided [RCV000848089] |
Chr9:203861..11028975 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:404371-613317)x3 |
copy number gain |
not provided [RCV000846124] |
Chr9:404371..613317 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:512066-579753)x1 |
copy number loss |
not provided [RCV000847411] |
Chr9:512066..579753 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:517445-633581)x3 |
copy number gain |
not provided [RCV000846271] |
Chr9:517445..633581 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:340919-535318)x3 |
copy number gain |
not provided [RCV000847634] |
Chr9:340919..535318 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:445993-622360)x3 |
copy number gain |
not provided [RCV000845950] |
Chr9:445993..622360 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2258C>G (p.Ala753Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003249556] |
Chr9:713024 [GRCh38] Chr9:713024 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1233C>A (p.Asp411Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003293178] |
Chr9:711999 [GRCh38] Chr9:711999 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:314208-518538)x3 |
copy number gain |
not provided [RCV001006174] |
Chr9:314208..518538 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:364035-646644)x3 |
copy number gain |
not provided [RCV001006176] |
Chr9:364035..646644 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:341088-539781)x3 |
copy number gain |
not provided [RCV001006175] |
Chr9:341088..539781 [GRCh37] Chr9:9p24.3 |
likely pathogenic |
NM_015158.5(KANK1):c.3577A>C (p.Asn1193His) |
single nucleotide variant |
Inborn genetic diseases [RCV003275423] |
Chr9:740815 [GRCh38] Chr9:740815 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3897+237T>G |
single nucleotide variant |
not provided [RCV001708504] |
Chr9:742642 [GRCh38] Chr9:742642 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3334-230T>C |
single nucleotide variant |
not provided [RCV001655310] |
Chr9:738055 [GRCh38] Chr9:738055 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.*54C>T |
single nucleotide variant |
not provided [RCV001679333] |
Chr9:745289 [GRCh38] Chr9:745289 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2896+212G>A |
single nucleotide variant |
not provided [RCV001660957] |
Chr9:730460 [GRCh38] Chr9:730460 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3246-103G>A |
single nucleotide variant |
not provided [RCV001534753] |
Chr9:734645 [GRCh38] Chr9:734645 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2896+225T>G |
single nucleotide variant |
not provided [RCV001638386] |
Chr9:730473 [GRCh38] Chr9:730473 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.-83-145A>G |
single nucleotide variant |
not provided [RCV001674215] |
Chr9:676745 [GRCh38] Chr9:676745 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2698+112A>T |
single nucleotide variant |
not provided [RCV001611331] |
Chr9:713576 [GRCh38] Chr9:713576 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3246-69G>T |
single nucleotide variant |
not provided [RCV001674423] |
Chr9:734679 [GRCh38] Chr9:734679 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.-19T>C |
single nucleotide variant |
not provided [RCV001639749] |
Chr9:676954 [GRCh38] Chr9:676954 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.-83-149A>G |
single nucleotide variant |
not provided [RCV001693255] |
Chr9:676741 [GRCh38] Chr9:676741 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3696+314del |
deletion |
not provided [RCV001674678] |
Chr9:741248 [GRCh38] Chr9:741248 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3696+150C>T |
single nucleotide variant |
not provided [RCV001677002] |
Chr9:741084 [GRCh38] Chr9:741084 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.38-164_38-162del |
deletion |
not provided [RCV001715042] |
Chr9:710638..710640 [GRCh38] Chr9:710638..710640 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3245+275G>C |
single nucleotide variant |
not provided [RCV001620980] |
Chr9:732892 [GRCh38] Chr9:732892 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3554-31C>G |
single nucleotide variant |
not provided [RCV001541756] |
Chr9:740761 [GRCh38] Chr9:740761 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1600G>A (p.Val534Met) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002501423]|KANK1-related condition [RCV003975583]|not provided [RCV000886683] |
Chr9:712366 [GRCh38] Chr9:712366 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2268C>T (p.Thr756=) |
single nucleotide variant |
not provided [RCV000931772] |
Chr9:713034 [GRCh38] Chr9:713034 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3477C>T (p.Asp1159=) |
single nucleotide variant |
not provided [RCV000909269] |
Chr9:738428 [GRCh38] Chr9:738428 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.2373A>C (p.Thr791=) |
single nucleotide variant |
not provided [RCV000932675] |
Chr9:713139 [GRCh38] Chr9:713139 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.4023G>A (p.Thr1341=) |
single nucleotide variant |
KANK1-related condition [RCV003950610]|not provided [RCV000903476] |
Chr9:745199 [GRCh38] Chr9:745199 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1533T>C (p.Val511=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002503015]|KANK1-related condition [RCV003905864]|not provided [RCV000963921] |
Chr9:712299 [GRCh38] Chr9:712299 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3105GGA[6] (p.Glu1039dup) |
microsatellite |
KANK1-related condition [RCV003918547]|not provided [RCV000974242] |
Chr9:732474..732475 [GRCh38] Chr9:732474..732475 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3354C>G (p.Leu1118=) |
single nucleotide variant |
not provided [RCV000897911] |
Chr9:738305 [GRCh38] Chr9:738305 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2556C>T (p.Phe852=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002489343]|not provided [RCV000959683] |
Chr9:713322 [GRCh38] Chr9:713322 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2646T>G (p.Thr882=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002502854]|not provided [RCV000932928] |
Chr9:713412 [GRCh38] Chr9:713412 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.1988T>C (p.Met663Thr) |
single nucleotide variant |
KANK1-related condition [RCV003958256]|not provided [RCV000907551] |
Chr9:712754 [GRCh38] Chr9:712754 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1608G>A (p.Thr536=) |
single nucleotide variant |
not provided [RCV000933415] |
Chr9:712374 [GRCh38] Chr9:712374 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.906C>G (p.Val302=) |
single nucleotide variant |
not provided [RCV000910896] |
Chr9:711672 [GRCh38] Chr9:711672 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3372C>T (p.Arg1124=) |
single nucleotide variant |
not provided [RCV000969230] |
Chr9:738323 [GRCh38] Chr9:738323 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
GRCh37/hg19 9p24.3(chr9:203861-567615)x1 |
copy number loss |
not provided [RCV001006161] |
Chr9:203861..567615 [GRCh37] Chr9:9p24.3 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 |
copy number loss |
not provided [RCV001006163] |
Chr9:203861..17789410 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 |
copy number loss |
not provided [RCV001006166] |
Chr9:203861..14080419 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
NM_015158.5(KANK1):c.3333+4A>C |
single nucleotide variant |
not provided [RCV000956690] |
Chr9:734839 [GRCh38] Chr9:734839 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2544G>C (p.Leu848=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002495393]|KANK1-related condition [RCV003920757]|not provided [RCV000891062] |
Chr9:713310 [GRCh38] Chr9:713310 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3870C>T (p.Pro1290=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002495380]|not provided [RCV000889203] |
Chr9:742378 [GRCh38] Chr9:742378 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.267T>A (p.Thr89=) |
single nucleotide variant |
not provided [RCV000999116] |
Chr9:711033 [GRCh38] Chr9:711033 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002505525]|Inborn genetic diseases [RCV002549118]|not provided [RCV000999117] |
Chr9:712843 [GRCh38] Chr9:712843 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3912G>A (p.Ala1304=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002505268]|not provided [RCV000889755] |
Chr9:744505 [GRCh38] Chr9:744505 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.3898-267del |
deletion |
not provided [RCV001595671] |
Chr9:744223 [GRCh38] Chr9:744223 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3245+162A>G |
single nucleotide variant |
not provided [RCV001643584] |
Chr9:732779 [GRCh38] Chr9:732779 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3696+83A>G |
single nucleotide variant |
not provided [RCV001658486] |
Chr9:741017 [GRCh38] Chr9:741017 [GRCh37] Chr9:9p24.3 |
benign |
GRCh37/hg19 9p24.3(chr9:304669-685819)x3 |
copy number gain |
not provided [RCV002473728] |
Chr9:304669..685819 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3696+290C>G |
single nucleotide variant |
not provided [RCV001636372] |
Chr9:741224 [GRCh38] Chr9:741224 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.38-174_38-164del |
deletion |
not provided [RCV001636551] |
Chr9:710630..710640 [GRCh38] Chr9:710630..710640 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.38-174C>A |
single nucleotide variant |
not provided [RCV001608664] |
Chr9:710630 [GRCh38] Chr9:710630 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2699-83A>C |
single nucleotide variant |
not provided [RCV001696049] |
Chr9:729968 [GRCh38] Chr9:729968 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.-83-198T>C |
single nucleotide variant |
not provided [RCV001597442] |
Chr9:676692 [GRCh38] Chr9:676692 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3246-73dup |
duplication |
not provided [RCV001656148] |
Chr9:734665..734666 [GRCh38] Chr9:734665..734666 [GRCh37] Chr9:9p24.3 |
benign |
GRCh37/hg19 9p24.3(chr9:291867-733212)x3 |
copy number gain |
not provided [RCV001006171] |
Chr9:291867..733212 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3898-246dup |
duplication |
not provided [RCV001616440] |
Chr9:744242..744243 [GRCh38] Chr9:744242..744243 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.38-164_38-163del |
deletion |
not provided [RCV001714887] |
Chr9:710639..710640 [GRCh38] Chr9:710639..710640 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.*178A>G |
single nucleotide variant |
not provided [RCV001694788] |
Chr9:745413 [GRCh38] Chr9:745413 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3898-73T>C |
single nucleotide variant |
not provided [RCV001722706] |
Chr9:744418 [GRCh38] Chr9:744418 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3245+87T>A |
single nucleotide variant |
not provided [RCV001671378] |
Chr9:732704 [GRCh38] Chr9:732704 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3333+254G>A |
single nucleotide variant |
not provided [RCV001722754] |
Chr9:735089 [GRCh38] Chr9:735089 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.-83-53_-83-52insG |
insertion |
not provided [RCV001614141] |
Chr9:676837..676838 [GRCh38] Chr9:676837..676838 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.38-164C>A |
single nucleotide variant |
not provided [RCV001651922] |
Chr9:710640 [GRCh38] Chr9:710640 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3696+127C>T |
single nucleotide variant |
not provided [RCV001682060] |
Chr9:741061 [GRCh38] Chr9:741061 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.37+132A>G |
single nucleotide variant |
not provided [RCV001666851] |
Chr9:677141 [GRCh38] Chr9:677141 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.38-174_38-163del |
deletion |
not provided [RCV001693512] |
Chr9:710629..710640 [GRCh38] Chr9:710629..710640 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3245+283T>C |
single nucleotide variant |
not provided [RCV001710714] |
Chr9:732900 [GRCh38] Chr9:732900 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2698+304T>A |
single nucleotide variant |
not provided [RCV001649399] |
Chr9:713768 [GRCh38] Chr9:713768 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3554-200G>C |
single nucleotide variant |
not provided [RCV001613634] |
Chr9:740592 [GRCh38] Chr9:740592 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3696+253T>C |
single nucleotide variant |
not provided [RCV001679413] |
Chr9:741187 [GRCh38] Chr9:741187 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3245+113C>G |
single nucleotide variant |
not provided [RCV001649515] |
Chr9:732730 [GRCh38] Chr9:732730 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3006-76T>C |
single nucleotide variant |
not provided [RCV001666707] |
Chr9:732302 [GRCh38] Chr9:732302 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3005+66A>G |
single nucleotide variant |
not provided [RCV001645604] |
Chr9:731332 [GRCh38] Chr9:731332 [GRCh37] Chr9:9p24.3 |
benign |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 |
copy number gain |
not provided [RCV001006167] |
Chr9:203861..70984588 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
NM_015158.5(KANK1):c.3554-9_3554-5del |
deletion |
Cerebral palsy, spastic quadriplegic, 2 [RCV001198689] |
Chr9:740770..740774 [GRCh38] Chr9:740770..740774 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2367G>A (p.Gly789=) |
single nucleotide variant |
not provided [RCV001200493] |
Chr9:713133 [GRCh38] Chr9:713133 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3(chr9:294253-711112)x3 |
copy number gain |
not provided [RCV001006172] |
Chr9:294253..711112 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:294253-534474)x3 |
copy number gain |
not provided [RCV001006173] |
Chr9:294253..534474 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:460071-740681)x3 |
copy number gain |
not provided [RCV001006178] |
Chr9:460071..740681 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:468704-579753)x1 |
copy number loss |
not provided [RCV001006179] |
Chr9:468704..579753 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:500120-556856)x1 |
copy number loss |
not provided [RCV001006180] |
Chr9:500120..556856 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:423689-1096481)x3 |
copy number gain |
not provided [RCV001258431] |
Chr9:423689..1096481 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-499996)x1 |
copy number loss |
not provided [RCV001260087] |
Chr9:203861..499996 [GRCh37] Chr9:9p24.3 |
pathogenic |
GRCh37/hg19 9p24.3-24.2(chr9:204090-2430905)x1 |
copy number loss |
See cases [RCV001263053] |
Chr9:204090..2430905 [GRCh37] Chr9:9p24.3-24.2 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:382183-734215)x4 |
copy number gain |
not provided [RCV001258437] |
Chr9:382183..734215 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 |
copy number loss |
See cases [RCV002285070] |
Chr9:203861..10283912 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:353220-714935)x3 |
copy number gain |
not provided [RCV001258435] |
Chr9:353220..714935 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:204053-695537)x1 |
copy number loss |
not provided [RCV001270670] |
Chr9:204053..695537 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 |
copy number loss |
Chromosome 9p deletion syndrome [RCV001263225] |
Chr9:204193..18073357 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
NM_015158.5(KANK1):c.511A>G (p.Thr171Ala) |
single nucleotide variant |
Rare genetic intellectual disability [RCV001257026]|not provided [RCV003727959] |
Chr9:711277 [GRCh38] Chr9:711277 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:518537-672786)x4 |
copy number gain |
not provided [RCV001258433] |
Chr9:518537..672786 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1086G>C (p.Gln362His) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV001328857]|not provided [RCV002546280] |
Chr9:711852 [GRCh38] Chr9:711852 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3709del (p.Ala1237fs) |
deletion |
Cerebral palsy, spastic quadriplegic, 2 [RCV001336250]|not provided [RCV003727986] |
Chr9:742216 [GRCh38] Chr9:742216 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) |
copy number loss |
Trigonocephaly [RCV001352660] |
Chr9:204193..18654812 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV001336248] |
Chr9:712786 [GRCh38] Chr9:712786 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3182C>T (p.Ala1061Val) |
single nucleotide variant |
not provided [RCV001322602] |
Chr9:732554 [GRCh38] Chr9:732554 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1173G>T (p.Glu391Asp) |
single nucleotide variant |
not provided [RCV001356721] |
Chr9:711939 [GRCh38] Chr9:711939 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2683C>A (p.Leu895Met) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV001336249]|not provided [RCV002547352] |
Chr9:713449 [GRCh38] Chr9:713449 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1901C>G (p.Ser634Cys) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV001354202] |
Chr9:712667 [GRCh38] Chr9:712667 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.630C>G (p.His210Gln) |
single nucleotide variant |
not provided [RCV001518500] |
Chr9:711396 [GRCh38] Chr9:711396 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1300A>C (p.Arg434=) |
single nucleotide variant |
not provided [RCV001518501] |
Chr9:712066 [GRCh38] Chr9:712066 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3834A>G (p.Gly1278=) |
single nucleotide variant |
not provided [RCV001522546] |
Chr9:742342 [GRCh38] Chr9:742342 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1371G>C (p.Leu457=) |
single nucleotide variant |
not provided [RCV001520477] |
Chr9:712137 [GRCh38] Chr9:712137 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1390T>G (p.Ser464Ala) |
single nucleotide variant |
not provided [RCV001520478] |
Chr9:712156 [GRCh38] Chr9:712156 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2702A>G (p.Asn901Ser) |
single nucleotide variant |
not provided [RCV001518502] |
Chr9:730054 [GRCh38] Chr9:730054 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3663C>T (p.Phe1221=) |
single nucleotide variant |
not provided [RCV001518503] |
Chr9:740901 [GRCh38] Chr9:740901 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3483C>T (p.Asn1161=) |
single nucleotide variant |
not provided [RCV001514493] |
Chr9:738434 [GRCh38] Chr9:738434 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3245+12T>C |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002495819]|not provided [RCV001518923] |
Chr9:732629 [GRCh38] Chr9:732629 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.2896+242G>A |
single nucleotide variant |
not provided [RCV001540852] |
Chr9:730490 [GRCh38] Chr9:730490 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.38-164del |
deletion |
not provided [RCV001698538] |
Chr9:710640 [GRCh38] Chr9:710640 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3554-320G>A |
single nucleotide variant |
not provided [RCV001694963] |
Chr9:740472 [GRCh38] Chr9:740472 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1294G>C (p.Glu432Gln) |
single nucleotide variant |
not provided [RCV001515159] |
Chr9:712060 [GRCh38] Chr9:712060 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1833C>T (p.Asn611=) |
single nucleotide variant |
not provided [RCV001515160] |
Chr9:712599 [GRCh38] Chr9:712599 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2699-293G>A |
single nucleotide variant |
not provided [RCV001648824] |
Chr9:729758 [GRCh38] Chr9:729758 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3997-135T>A |
single nucleotide variant |
not provided [RCV001671165] |
Chr9:745038 [GRCh38] Chr9:745038 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.-83-186T>C |
single nucleotide variant |
not provided [RCV001645824] |
Chr9:676704 [GRCh38] Chr9:676704 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1908C>T (p.Asp636=) |
single nucleotide variant |
not provided [RCV001510560] |
Chr9:712674 [GRCh38] Chr9:712674 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3006-159C>G |
single nucleotide variant |
not provided [RCV001693834] |
Chr9:732219 [GRCh38] Chr9:732219 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3696+38G>C |
single nucleotide variant |
not provided [RCV001539155] |
Chr9:740972 [GRCh38] Chr9:740972 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3996+148G>A |
single nucleotide variant |
not provided [RCV001667477] |
Chr9:744737 [GRCh38] Chr9:744737 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3334-47G>A |
single nucleotide variant |
not provided [RCV001651963] |
Chr9:738238 [GRCh38] Chr9:738238 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2897-341G>A |
single nucleotide variant |
not provided [RCV001651964] |
Chr9:730817 [GRCh38] Chr9:730817 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3006-162C>T |
single nucleotide variant |
not provided [RCV001647824] |
Chr9:732216 [GRCh38] Chr9:732216 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3696+67T>C |
single nucleotide variant |
not provided [RCV001670631] |
Chr9:741001 [GRCh38] Chr9:741001 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.-83-70A>G |
single nucleotide variant |
not provided [RCV001674275] |
Chr9:676820 [GRCh38] Chr9:676820 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2699-85_2699-84del |
deletion |
not provided [RCV001708620] |
Chr9:729966..729967 [GRCh38] Chr9:729966..729967 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3696+107T>G |
single nucleotide variant |
not provided [RCV001710472] |
Chr9:741041 [GRCh38] Chr9:741041 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3005+154G>T |
single nucleotide variant |
not provided [RCV001619059] |
Chr9:731420 [GRCh38] Chr9:731420 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3006-323G>A |
single nucleotide variant |
not provided [RCV001530794] |
Chr9:732055 [GRCh38] Chr9:732055 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.200G>A (p.Arg67Gln) |
single nucleotide variant |
not provided [RCV001518499] |
Chr9:710966 [GRCh38] Chr9:710966 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3333+19C>G |
single nucleotide variant |
not provided [RCV001522749] |
Chr9:734854 [GRCh38] Chr9:734854 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3997-17C>G |
single nucleotide variant |
not provided [RCV001523247] |
Chr9:745156 [GRCh38] Chr9:745156 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1357A>G (p.Lys453Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002560366]|KANK1-related condition [RCV003908689]|not provided [RCV001461260] |
Chr9:712123 [GRCh38] Chr9:712123 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
NM_015158.5(KANK1):c.2000G>A (p.Arg667His) |
single nucleotide variant |
not provided [RCV001514490] |
Chr9:712766 [GRCh38] Chr9:712766 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2541A>G (p.Glu847=) |
single nucleotide variant |
not provided [RCV001514491] |
Chr9:713307 [GRCh38] Chr9:713307 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3164T>C (p.Ile1055Thr) |
single nucleotide variant |
not provided [RCV001514492] |
Chr9:732536 [GRCh38] Chr9:732536 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3996G>A (p.Pro1332=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002488489]|not provided [RCV001730292] |
Chr9:744589 [GRCh38] Chr9:744589 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:525954-813180)x3 |
copy number gain |
not provided [RCV001834216] |
Chr9:525954..813180 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3697-86C>T |
single nucleotide variant |
not provided [RCV001759144] |
Chr9:742119 [GRCh38] Chr9:742119 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3554-5del |
deletion |
not provided [RCV001769526] |
Chr9:740770 [GRCh38] Chr9:740770 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.37+202C>G |
single nucleotide variant |
not provided [RCV001774995] |
Chr9:677211 [GRCh38] Chr9:677211 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3246-126T>C |
single nucleotide variant |
not provided [RCV001769547] |
Chr9:734622 [GRCh38] Chr9:734622 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3643C>T (p.Arg1215Trp) |
single nucleotide variant |
not provided [RCV003104529] |
Chr9:740881 [GRCh38] Chr9:740881 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3246-133A>G |
single nucleotide variant |
not provided [RCV001769545] |
Chr9:734615 [GRCh38] Chr9:734615 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3553+133A>G |
single nucleotide variant |
not provided [RCV001767978] |
Chr9:738637 [GRCh38] Chr9:738637 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3996+34C>T |
single nucleotide variant |
not provided [RCV001769645] |
Chr9:744623 [GRCh38] Chr9:744623 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2896+89T>C |
single nucleotide variant |
not provided [RCV001759180] |
Chr9:730337 [GRCh38] Chr9:730337 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3334-35A>G |
single nucleotide variant |
not provided [RCV001759244] |
Chr9:738250 [GRCh38] Chr9:738250 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.*195G>A |
single nucleotide variant |
not provided [RCV001759251] |
Chr9:745430 [GRCh38] Chr9:745430 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3897+84G>C |
single nucleotide variant |
not provided [RCV001759245] |
Chr9:742489 [GRCh38] Chr9:742489 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3005+83C>T |
single nucleotide variant |
not provided [RCV001759375] |
Chr9:731349 [GRCh38] Chr9:731349 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.52A>G (p.Ile18Val) |
single nucleotide variant |
not provided [RCV001768168] |
Chr9:710818 [GRCh38] Chr9:710818 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.38-151C>T |
single nucleotide variant |
not provided [RCV001767994] |
Chr9:710653 [GRCh38] Chr9:710653 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2615C>G (p.Ser872Cys) |
single nucleotide variant |
KANK1-related condition [RCV003956346]|not provided [RCV002077180]|not specified [RCV001733667] |
Chr9:713381 [GRCh38] Chr9:713381 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.-83-244A>G |
single nucleotide variant |
not provided [RCV001768002] |
Chr9:676646 [GRCh38] Chr9:676646 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3213dup (p.Cys1072fs) |
duplication |
Cerebral palsy, spastic quadriplegic, 2 [RCV002478046]|not specified [RCV001815138] |
Chr9:732583..732584 [GRCh38] Chr9:732583..732584 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1216G>A (p.Glu406Lys) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002486618]|Inborn genetic diseases [RCV002642082]|not provided [RCV002040165] |
Chr9:711982 [GRCh38] Chr9:711982 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1870G>C (p.Glu624Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002557669]|not provided [RCV001928199] |
Chr9:712636 [GRCh38] Chr9:712636 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2198C>T (p.Thr733Met) |
single nucleotide variant |
not provided [RCV002025953] |
Chr9:712964 [GRCh38] Chr9:712964 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002490250]|not provided [RCV001910104] |
Chr9:738477 [GRCh38] Chr9:738477 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2951A>T (p.Asn984Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002562009]|not provided [RCV001967336] |
Chr9:731212 [GRCh38] Chr9:731212 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.424C>T (p.Pro142Ser) |
single nucleotide variant |
not provided [RCV001968709] |
Chr9:711190 [GRCh38] Chr9:711190 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2342G>C (p.Cys781Ser) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002506884]|Inborn genetic diseases [RCV002545770]|not provided [RCV001863551] |
Chr9:713108 [GRCh38] Chr9:713108 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3350C>T (p.Thr1117Ile) |
single nucleotide variant |
not provided [RCV001915568] |
Chr9:738301 [GRCh38] Chr9:738301 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:322795-622360)x3 |
copy number gain |
not provided [RCV001827641] |
Chr9:322795..622360 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3991T>C (p.Ser1331Pro) |
single nucleotide variant |
not provided [RCV001929404] |
Chr9:744584 [GRCh38] Chr9:744584 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2765C>T (p.Thr922Ile) |
single nucleotide variant |
not provided [RCV001864503] |
Chr9:730117 [GRCh38] Chr9:730117 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:314208-915632)x3 |
copy number gain |
not provided [RCV001827919] |
Chr9:314208..915632 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1663T>C (p.Cys555Arg) |
single nucleotide variant |
not provided [RCV002043375] |
Chr9:712429 [GRCh38] Chr9:712429 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1961C>A (p.Ala654Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002560590]|KANK1-related condition [RCV003923372]|not provided [RCV001948232] |
Chr9:712727 [GRCh38] Chr9:712727 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
GRCh37/hg19 9p24.3(chr9:336088-980057)x3 |
copy number gain |
not provided [RCV001827918] |
Chr9:336088..980057 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.873C>G (p.Ile291Met) |
single nucleotide variant |
not provided [RCV002025085] |
Chr9:711639 [GRCh38] Chr9:711639 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152) |
copy number loss |
not specified [RCV002053808] |
Chr9:203861..5909152 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) |
copy number loss |
not specified [RCV002053810] |
Chr9:203861..8735462 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) |
copy number loss |
not specified [RCV002053815] |
Chr9:203861..14694074 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:453134-820485)x3 |
copy number gain |
not provided [RCV001834244] |
Chr9:453134..820485 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:369763-489338)x3 |
copy number gain |
not provided [RCV001834395] |
Chr9:369763..489338 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3634_3636del (p.Lys1212del) |
deletion |
Cerebral palsy, spastic quadriplegic, 2 [RCV002492104]|not provided [RCV002004788] |
Chr9:740870..740872 [GRCh38] Chr9:740870..740872 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) |
copy number loss |
not specified [RCV002053809] |
Chr9:203861..7759331 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) |
copy number loss |
not specified [RCV002053812] |
Chr9:203861..11414732 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) |
copy number loss |
not specified [RCV002053816] |
Chr9:203861..15211277 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) |
copy number loss |
not specified [RCV002053817] |
Chr9:203861..16856907 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) |
copy number gain |
not specified [RCV002053818] |
Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-24.2(chr9:203861-3226591) |
copy number loss |
not specified [RCV002053806] |
Chr9:203861..3226591 [GRCh37] Chr9:9p24.3-24.2 |
pathogenic |
NM_015158.5(KANK1):c.2059G>T (p.Glu687Ter) |
single nucleotide variant |
not provided [RCV002043192] |
Chr9:712825 [GRCh38] Chr9:712825 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3454C>T (p.Arg1152Cys) |
single nucleotide variant |
not provided [RCV001945249] |
Chr9:738405 [GRCh38] Chr9:738405 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) |
copy number gain |
not specified [RCV002053819] |
Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) |
copy number gain |
not specified [RCV002053820] |
Chr9:203861..84155399 [GRCh37] Chr9:9p24.3-q21.32 |
pathogenic |
NM_015158.5(KANK1):c.1218G>A (p.Glu406=) |
single nucleotide variant |
not provided [RCV001911543] |
Chr9:711984 [GRCh38] Chr9:711984 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) |
copy number gain |
not specified [RCV002053823] |
Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NC_000009.11:g.(?_676973)_(894215_?)dup |
duplication |
not provided [RCV001871101] |
Chr9:676973..894215 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1006T>C (p.Ser336Pro) |
single nucleotide variant |
not provided [RCV002022028] |
Chr9:711772 [GRCh38] Chr9:711772 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:498269-566624) |
copy number loss |
not specified [RCV002053825] |
Chr9:498269..566624 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3486C>T (p.Gly1162=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002484851]|not provided [RCV001969092] |
Chr9:738437 [GRCh38] Chr9:738437 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
NM_015158.5(KANK1):c.1624G>A (p.Val542Met) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002478105]|not provided [RCV002042065] |
Chr9:712390 [GRCh38] Chr9:712390 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) |
copy number gain |
not specified [RCV002053827] |
Chr9:676264..33743670 [GRCh37] Chr9:9p24.3-13.3 |
pathogenic |
NM_015158.5(KANK1):c.1658C>G (p.Pro553Arg) |
single nucleotide variant |
not provided [RCV002004050] |
Chr9:712424 [GRCh38] Chr9:712424 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2018C>G (p.Thr673Ser) |
single nucleotide variant |
KANK1-related condition [RCV003911080]|not provided [RCV001893072] |
Chr9:712784 [GRCh38] Chr9:712784 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2143C>T (p.Arg715Trp) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002490134]|not provided [RCV001889430] |
Chr9:712909 [GRCh38] Chr9:712909 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3757C>T (p.Leu1253Phe) |
single nucleotide variant |
not provided [RCV001965823] |
Chr9:742265 [GRCh38] Chr9:742265 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3764C>A (p.Ala1255Asp) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002482652]|Inborn genetic diseases [RCV003264178]|not provided [RCV001892578] |
Chr9:742272 [GRCh38] Chr9:742272 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3880G>A (p.Gly1294Ser) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002503619]|Inborn genetic diseases [RCV002558462]|not provided [RCV001945712] |
Chr9:742388 [GRCh38] Chr9:742388 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:519255-671330)x3 |
copy number gain |
not provided [RCV001833023] |
Chr9:519255..671330 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3105GGA[3] (p.Glu1038_Glu1039del) |
microsatellite |
not provided [RCV001907714] |
Chr9:732475..732480 [GRCh38] Chr9:732475..732480 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1514C>G (p.Thr505Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003167129]|not provided [RCV001909616] |
Chr9:712280 [GRCh38] Chr9:712280 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.2(chr9:203861-4342995) |
copy number gain |
not specified [RCV002053807] |
Chr9:203861..4342995 [GRCh37] Chr9:9p24.3-24.2 |
uncertain significance |
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) |
copy number loss |
not specified [RCV002053811] |
Chr9:203861..9631665 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
NM_015158.5(KANK1):c.226C>T (p.Pro76Ser) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002490177]|Inborn genetic diseases [RCV002554281]|not provided [RCV001912753] |
Chr9:710992 [GRCh38] Chr9:710992 [GRCh37] Chr9:9p24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015158.5(KANK1):c.2063C>T (p.Thr688Met) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002490107]|Inborn genetic diseases [RCV003164283]|not provided [RCV001895346] |
Chr9:712829 [GRCh38] Chr9:712829 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3128C>T (p.Thr1043Ile) |
single nucleotide variant |
not provided [RCV001970234] |
Chr9:732500 [GRCh38] Chr9:732500 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.683C>G (p.Ala228Gly) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002497841]|not provided [RCV001985334] |
Chr9:711449 [GRCh38] Chr9:711449 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1633A>G (p.Asn545Asp) |
single nucleotide variant |
not provided [RCV001873026] |
Chr9:712399 [GRCh38] Chr9:712399 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3994C>G (p.Pro1332Ala) |
single nucleotide variant |
not provided [RCV002044378] |
Chr9:744587 [GRCh38] Chr9:744587 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3105GGA[7] (p.Glu1038_Glu1039dup) |
microsatellite |
not provided [RCV001893611] |
Chr9:732474..732475 [GRCh38] Chr9:732474..732475 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3552C>T (p.Ala1184=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002482799]|KANK1-related condition [RCV003976255]|not provided [RCV001909057] |
Chr9:738503 [GRCh38] Chr9:738503 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
NM_015158.5(KANK1):c.2261T>G (p.Val754Gly) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002490207]|not provided [RCV001947604] |
Chr9:713027 [GRCh38] Chr9:713027 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.325G>A (p.Ala109Thr) |
single nucleotide variant |
not provided [RCV002021324] |
Chr9:711091 [GRCh38] Chr9:711091 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-832928)x1 |
copy number loss |
not provided [RCV001834412] |
Chr9:203861..832928 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.433C>T (p.Pro145Ser) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002492286]|Inborn genetic diseases [RCV003250391]|not provided [RCV001986759] |
Chr9:711199 [GRCh38] Chr9:711199 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:611150-694567) |
copy number loss |
not specified [RCV002053826] |
Chr9:611150..694567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2610GTC[1] (p.Ser872del) |
microsatellite |
not provided [RCV001926813] |
Chr9:713376..713378 [GRCh38] Chr9:713376..713378 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.526C>T (p.Pro176Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002548950]|not provided [RCV002043837] |
Chr9:711292 [GRCh38] Chr9:711292 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.790C>T (p.Arg264Cys) |
single nucleotide variant |
not provided [RCV002022589] |
Chr9:711556 [GRCh38] Chr9:711556 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2186C>G (p.Ser729Cys) |
single nucleotide variant |
not provided [RCV001894616] |
Chr9:712952 [GRCh38] Chr9:712952 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) |
copy number loss |
not specified [RCV002053814] |
Chr9:203861..14322268 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
NM_015158.5(KANK1):c.590CTT[1] (p.Ser198del) |
microsatellite |
Cerebral palsy, spastic quadriplegic, 2 [RCV002486753]|not provided [RCV002043589] |
Chr9:711356..711358 [GRCh38] Chr9:711356..711358 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.46G>C (p.Gly16Arg) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002484499]|not provided [RCV001947727] |
Chr9:710812 [GRCh38] Chr9:710812 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.16A>G (p.Lys6Glu) |
single nucleotide variant |
not provided [RCV001983276] |
Chr9:676988 [GRCh38] Chr9:676988 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1004T>C (p.Leu335Pro) |
single nucleotide variant |
not provided [RCV001891353] |
Chr9:711770 [GRCh38] Chr9:711770 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.466A>G (p.Lys156Glu) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479693]|Inborn genetic diseases [RCV003170428]|not provided [RCV001983558] |
Chr9:711232 [GRCh38] Chr9:711232 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1607C>T (p.Thr536Met) |
single nucleotide variant |
not provided [RCV001973944] |
Chr9:712373 [GRCh38] Chr9:712373 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3879C>T (p.Asn1293=) |
single nucleotide variant |
not provided [RCV001942271] |
Chr9:742387 [GRCh38] Chr9:742387 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.793G>A (p.Glu265Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002545780]|not provided [RCV001887681] |
Chr9:711559 [GRCh38] Chr9:711559 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1818_1820del (p.Glu608del) |
deletion |
Cerebral palsy, spastic quadriplegic, 2 [RCV002478123]|not provided [RCV001867286] |
Chr9:712584..712586 [GRCh38] Chr9:712584..712586 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2952C>G (p.Asn984Lys) |
single nucleotide variant |
not provided [RCV001997868] |
Chr9:731213 [GRCh38] Chr9:731213 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3869C>A (p.Pro1290His) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479532]|not provided [RCV001937025] |
Chr9:742377 [GRCh38] Chr9:742377 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3733G>A (p.Gly1245Arg) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002492100]|not provided [RCV002014637] |
Chr9:742241 [GRCh38] Chr9:742241 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1412G>A (p.Arg471His) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002492080]|Inborn genetic diseases [RCV002562945]|not provided [RCV001992777] |
Chr9:712178 [GRCh38] Chr9:712178 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1069G>C (p.Val357Leu) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002484753]|Inborn genetic diseases [RCV003289291]|not provided [RCV001958448] |
Chr9:711835 [GRCh38] Chr9:711835 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2968G>A (p.Ala990Thr) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479837]|not provided [RCV002036598] |
Chr9:731229 [GRCh38] Chr9:731229 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1569A>C (p.Arg523Ser) |
single nucleotide variant |
not provided [RCV001992917] |
Chr9:712335 [GRCh38] Chr9:712335 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.11:g.(?_367998)_(968139_?)dup |
duplication |
not provided [RCV001939221] |
Chr9:367998..968139 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2657G>C (p.Arg886Thr) |
single nucleotide variant |
not provided [RCV001962138] |
Chr9:713423 [GRCh38] Chr9:713423 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3050C>A (p.Ser1017Tyr) |
single nucleotide variant |
not provided [RCV002031701] |
Chr9:732422 [GRCh38] Chr9:732422 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3554_3556dup |
duplication |
KANK1-related condition [RCV003483840]|not provided [RCV002037374] |
Chr9:740790..740791 [GRCh38] Chr9:740790..740791 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.674A>G (p.Tyr225Cys) |
single nucleotide variant |
not provided [RCV002038318] |
Chr9:711440 [GRCh38] Chr9:711440 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1039A>G (p.Ile347Val) |
single nucleotide variant |
not provided [RCV001974803] |
Chr9:711805 [GRCh38] Chr9:711805 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3770G>A (p.Gly1257Glu) |
single nucleotide variant |
not provided [RCV002048942] |
Chr9:742278 [GRCh38] Chr9:742278 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.11:g.(?_376190)_(677029_?)dup |
duplication |
Combined immunodeficiency due to DOCK8 deficiency [RCV002030491] |
Chr9:376190..677029 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2110G>A (p.Asp704Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003348694]|not provided [RCV001979596] |
Chr9:712876 [GRCh38] Chr9:712876 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2474A>G (p.His825Arg) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002492292]|Inborn genetic diseases [RCV002641986]|not provided [RCV001989502] |
Chr9:713240 [GRCh38] Chr9:713240 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1882A>G (p.Ile628Val) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002482467]|not provided [RCV001867054] |
Chr9:712648 [GRCh38] Chr9:712648 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.335A>C (p.Gln112Pro) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002492359]|not provided [RCV002011553] |
Chr9:711101 [GRCh38] Chr9:711101 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3995C>T (p.Pro1332Leu) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002497934]|Inborn genetic diseases [RCV002573464]|not provided [RCV002014966] |
Chr9:744588 [GRCh38] Chr9:744588 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.980G>C (p.Gly327Ala) |
single nucleotide variant |
not provided [RCV002014251] |
Chr9:711746 [GRCh38] Chr9:711746 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2740T>G (p.Ser914Ala) |
single nucleotide variant |
not provided [RCV002015046] |
Chr9:730092 [GRCh38] Chr9:730092 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1607C>A (p.Thr536Lys) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002482423]|not provided [RCV002050951] |
Chr9:712373 [GRCh38] Chr9:712373 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2896+2T>G |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479419]|not provided [RCV001952071] |
Chr9:730250 [GRCh38] Chr9:730250 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1322C>T (p.Thr441Ile) |
single nucleotide variant |
not provided [RCV001864726] |
Chr9:712088 [GRCh38] Chr9:712088 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3741A>G (p.Ile1247Met) |
single nucleotide variant |
not provided [RCV001877821] |
Chr9:742249 [GRCh38] Chr9:742249 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1020A>C (p.Arg340Ser) |
single nucleotide variant |
not provided [RCV002015182] |
Chr9:711786 [GRCh38] Chr9:711786 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1885G>A (p.Gly629Ser) |
single nucleotide variant |
not provided [RCV001935963] |
Chr9:712651 [GRCh38] Chr9:712651 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3068A>G (p.Asp1023Gly) |
single nucleotide variant |
not provided [RCV002031703] |
Chr9:732440 [GRCh38] Chr9:732440 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2513A>G (p.Gln838Arg) |
single nucleotide variant |
not provided [RCV001931888] |
Chr9:713279 [GRCh38] Chr9:713279 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2845A>G (p.Thr949Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002562176]|not provided [RCV001974815] |
Chr9:730197 [GRCh38] Chr9:730197 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3867G>C (p.Gln1289His) |
single nucleotide variant |
not provided [RCV001900083] |
Chr9:742375 [GRCh38] Chr9:742375 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2366G>T (p.Gly789Val) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002478375]|not provided [RCV001918836] |
Chr9:713132 [GRCh38] Chr9:713132 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3374T>C (p.Val1125Ala) |
single nucleotide variant |
not provided [RCV001996099] |
Chr9:738325 [GRCh38] Chr9:738325 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2884G>T (p.Ala962Ser) |
single nucleotide variant |
not provided [RCV001925584] |
Chr9:730236 [GRCh38] Chr9:730236 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.11:g.(?_214977)_(677029_?)del |
deletion |
Combined immunodeficiency due to DOCK8 deficiency [RCV001940955] |
Chr9:214977..677029 [GRCh37] Chr9:9p24.3 |
pathogenic |
NM_015158.5(KANK1):c.1867_1869del (p.Lys623del) |
deletion |
not provided [RCV001938506] |
Chr9:712633..712635 [GRCh38] Chr9:712633..712635 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2669T>A (p.Phe890Tyr) |
single nucleotide variant |
not provided [RCV001877770] |
Chr9:713435 [GRCh38] Chr9:713435 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.975T>A (p.Ser325Arg) |
single nucleotide variant |
not provided [RCV001997783] |
Chr9:711741 [GRCh38] Chr9:711741 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1943G>A (p.Arg648Gln) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002497843]|not provided [RCV001992813] |
Chr9:712709 [GRCh38] Chr9:712709 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3371G>A (p.Arg1124His) |
single nucleotide variant |
Inborn genetic diseases [RCV002547990]|not provided [RCV001864868] |
Chr9:738322 [GRCh38] Chr9:738322 [GRCh37] Chr9:9p24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_015158.5(KANK1):c.2389G>A (p.Val797Met) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002478139]|not provided [RCV001864886] |
Chr9:713155 [GRCh38] Chr9:713155 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3897C>T (p.Asn1299=) |
single nucleotide variant |
not provided [RCV002051284] |
Chr9:742405 [GRCh38] Chr9:742405 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.106C>T (p.Pro36Ser) |
single nucleotide variant |
not provided [RCV002048757] |
Chr9:710872 [GRCh38] Chr9:710872 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3067G>A (p.Asp1023Asn) |
single nucleotide variant |
not provided [RCV001974703] |
Chr9:732439 [GRCh38] Chr9:732439 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2374G>A (p.Ala792Thr) |
single nucleotide variant |
not provided [RCV001976179] |
Chr9:713140 [GRCh38] Chr9:713140 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3815T>C (p.Met1272Thr) |
single nucleotide variant |
not provided [RCV001920237] |
Chr9:742323 [GRCh38] Chr9:742323 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2929A>G (p.Ile977Val) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002492253]|not provided [RCV002030596] |
Chr9:731190 [GRCh38] Chr9:731190 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3281A>G (p.Asn1094Ser) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002486594]|not provided [RCV001991584] |
Chr9:734783 [GRCh38] Chr9:734783 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3689C>G (p.Ala1230Gly) |
single nucleotide variant |
not provided [RCV001878900] |
Chr9:740927 [GRCh38] Chr9:740927 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2153C>G (p.Ala718Gly) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002489962]|not provided [RCV001866811] |
Chr9:712919 [GRCh38] Chr9:712919 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.917A>G (p.Lys306Arg) |
single nucleotide variant |
not provided [RCV001951702] |
Chr9:711683 [GRCh38] Chr9:711683 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.516G>T (p.Met172Ile) |
single nucleotide variant |
not provided [RCV001981743] |
Chr9:711282 [GRCh38] Chr9:711282 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3897+6C>T |
single nucleotide variant |
KANK1-related condition [RCV003911139]|not provided [RCV001998454] |
Chr9:742411 [GRCh38] Chr9:742411 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
NC_000009.11:g.(?_676973)_(677029_?)del |
deletion |
not provided [RCV001982307] |
Chr9:676973..677029 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3382C>G (p.Gln1128Glu) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002492047]|not provided [RCV001939285] |
Chr9:738333 [GRCh38] Chr9:738333 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2699-85T>C |
single nucleotide variant |
not provided [RCV002034862] |
Chr9:729966 [GRCh38] Chr9:729966 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3037T>A (p.Ser1013Thr) |
single nucleotide variant |
not provided [RCV002035977] |
Chr9:732409 [GRCh38] Chr9:732409 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1909G>A (p.Val637Met) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479648]|not provided [RCV002019158] |
Chr9:712675 [GRCh38] Chr9:712675 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3005+134G>A |
single nucleotide variant |
not provided [RCV002034863] |
Chr9:731400 [GRCh38] Chr9:731400 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3608C>T (p.Ala1203Val) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002503569]|not provided [RCV001930241] |
Chr9:740846 [GRCh38] Chr9:740846 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2635T>C (p.Ser879Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002548746]|not provided [RCV002014211] |
Chr9:713401 [GRCh38] Chr9:713401 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.4059_*3dup (p.Phe1351_Ter1353=) |
microsatellite |
not provided [RCV001973282] |
Chr9:745227..745228 [GRCh38] Chr9:745227..745228 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3946A>G (p.Ile1316Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002571291]|not provided [RCV001973315] |
Chr9:744539 [GRCh38] Chr9:744539 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.298A>G (p.Asn100Asp) |
single nucleotide variant |
not provided [RCV002031961] |
Chr9:711064 [GRCh38] Chr9:711064 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.11:g.(?_414762)_(745235_?)dup |
duplication |
Combined immunodeficiency due to DOCK8 deficiency [RCV001973230] |
Chr9:414762..745235 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.148G>T (p.Asp50Tyr) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002489945]|not provided [RCV002047542] |
Chr9:710914 [GRCh38] Chr9:710914 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3137T>C (p.Met1046Thr) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479645]|Inborn genetic diseases [RCV002573496]|not provided [RCV001974393] |
Chr9:732509 [GRCh38] Chr9:732509 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1260G>C (p.Arg420Ser) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479502]|not provided [RCV001955195] |
Chr9:712026 [GRCh38] Chr9:712026 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1997C>T (p.Pro666Leu) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002492305]|Inborn genetic diseases [RCV002625414]|not provided [RCV002033815] |
Chr9:712763 [GRCh38] Chr9:712763 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3619G>C (p.Ala1207Pro) |
single nucleotide variant |
not provided [RCV001955097] |
Chr9:740857 [GRCh38] Chr9:740857 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3842A>G (p.Glu1281Gly) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479646]|not provided [RCV001974401] |
Chr9:742350 [GRCh38] Chr9:742350 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3974A>G (p.Asn1325Ser) |
single nucleotide variant |
not provided [RCV002051128] |
Chr9:744567 [GRCh38] Chr9:744567 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3897+19G>A |
single nucleotide variant |
not provided [RCV002187744] |
Chr9:742424 [GRCh38] Chr9:742424 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3005+9A>T |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002480969]|KANK1-related condition [RCV003933489]|not provided [RCV002144941] |
Chr9:731275 [GRCh38] Chr9:731275 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.3444A>T (p.Pro1148=) |
single nucleotide variant |
not provided [RCV002211457] |
Chr9:738395 [GRCh38] Chr9:738395 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2919A>G (p.Thr973=) |
single nucleotide variant |
not provided [RCV002207384] |
Chr9:731180 [GRCh38] Chr9:731180 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.528G>A (p.Pro176=) |
single nucleotide variant |
not provided [RCV002104595] |
Chr9:711294 [GRCh38] Chr9:711294 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.1287A>C (p.Thr429=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002494217]|not provided [RCV002107305] |
Chr9:712053 [GRCh38] Chr9:712053 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1236C>T (p.Ile412=) |
single nucleotide variant |
not provided [RCV002110068] |
Chr9:712002 [GRCh38] Chr9:712002 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3807G>A (p.Thr1269=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002486860]|KANK1-related condition [RCV003893249]|not provided [RCV002086184] |
Chr9:742315 [GRCh38] Chr9:742315 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.468G>A (p.Lys156=) |
single nucleotide variant |
not provided [RCV002090580] |
Chr9:711234 [GRCh38] Chr9:711234 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1131G>A (p.Leu377=) |
single nucleotide variant |
not provided [RCV002190863] |
Chr9:711897 [GRCh38] Chr9:711897 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3243G>A (p.Glu1081=) |
single nucleotide variant |
not provided [RCV002089641] |
Chr9:732615 [GRCh38] Chr9:732615 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3697-10C>G |
single nucleotide variant |
not provided [RCV002209899] |
Chr9:742195 [GRCh38] Chr9:742195 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.66C>T (p.Asp22=) |
single nucleotide variant |
not provided [RCV002153558] |
Chr9:710832 [GRCh38] Chr9:710832 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2301C>T (p.Asn767=) |
single nucleotide variant |
not provided [RCV002212468] |
Chr9:713067 [GRCh38] Chr9:713067 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.453C>T (p.Asn151=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002500101]|not provided [RCV002171201] |
Chr9:711219 [GRCh38] Chr9:711219 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.1710T>G (p.Ile570Met) |
single nucleotide variant |
not provided [RCV002223694] |
Chr9:712476 [GRCh38] Chr9:712476 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3898-7_3898-3del |
microsatellite |
not provided [RCV002114971] |
Chr9:744478..744482 [GRCh38] Chr9:744478..744482 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3554-5_3554-4insTA |
insertion |
Cerebral palsy, spastic quadriplegic, 2 [RCV002499978]|not provided [RCV002115171] |
Chr9:740787..740788 [GRCh38] Chr9:740787..740788 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.817C>T (p.Arg273Cys) |
single nucleotide variant |
not provided [RCV002214483] |
Chr9:711583 [GRCh38] Chr9:711583 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3744C>T (p.Asp1248=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002496149]|not provided [RCV002214485] |
Chr9:742252 [GRCh38] Chr9:742252 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.264C>T (p.Ser88=) |
single nucleotide variant |
not provided [RCV002105298] |
Chr9:711030 [GRCh38] Chr9:711030 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.657T>C (p.Asn219=) |
single nucleotide variant |
not provided [RCV002212966] |
Chr9:711423 [GRCh38] Chr9:711423 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3722C>T (p.Ala1241Val) |
single nucleotide variant |
not provided [RCV002095806] |
Chr9:742230 [GRCh38] Chr9:742230 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3484G>A (p.Gly1162Ser) |
single nucleotide variant |
not provided [RCV002071168] |
Chr9:738435 [GRCh38] Chr9:738435 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3996+15T>C |
single nucleotide variant |
not provided [RCV002087294] |
Chr9:744604 [GRCh38] Chr9:744604 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3618C>T (p.Ala1206=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002498248]|not provided [RCV002213434] |
Chr9:740856 [GRCh38] Chr9:740856 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.9C>T (p.His3=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002486970]|not provided [RCV002151933] |
Chr9:676981 [GRCh38] Chr9:676981 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1947C>T (p.Gly649=) |
single nucleotide variant |
not provided [RCV002114331] |
Chr9:712713 [GRCh38] Chr9:712713 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.857T>A (p.Val286Glu) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002498179]|KANK1-related condition [RCV003958532]|not provided [RCV002199443] |
Chr9:711623 [GRCh38] Chr9:711623 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3006-12A>G |
single nucleotide variant |
not provided [RCV002136823] |
Chr9:732366 [GRCh38] Chr9:732366 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.151G>A (p.Asp51Asn) |
single nucleotide variant |
not provided [RCV002082871]|not specified [RCV002509751] |
Chr9:710917 [GRCh38] Chr9:710917 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
NM_015158.5(KANK1):c.1926A>G (p.Pro642=) |
single nucleotide variant |
not provided [RCV002101722] |
Chr9:712692 [GRCh38] Chr9:712692 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2698+11C>T |
single nucleotide variant |
not provided [RCV002153956] |
Chr9:713475 [GRCh38] Chr9:713475 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.24C>T (p.Asn8=) |
single nucleotide variant |
not provided [RCV002099735] |
Chr9:676996 [GRCh38] Chr9:676996 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3245+9C>T |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002486990]|KANK1-related condition [RCV003971145]|not provided [RCV002179170] |
Chr9:732626 [GRCh38] Chr9:732626 [GRCh37] Chr9:9p24.3 |
likely benign |
Single allele |
deletion |
Chromosome 9p deletion syndrome [RCV002247737] |
Chr9:203987..11602476 [GRCh38] Chr9:9p24.3-23 |
pathogenic |
NM_015158.5(KANK1):c.2496G>C (p.Lys832Asn) |
single nucleotide variant |
KANK1-related condition [RCV003968851]|not provided [RCV002083942] |
Chr9:713262 [GRCh38] Chr9:713262 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.93C>T (p.Tyr31=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002499934]|not provided [RCV002100785] |
Chr9:710859 [GRCh38] Chr9:710859 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3177G>A (p.Lys1059=) |
single nucleotide variant |
not provided [RCV002177214] |
Chr9:732549 [GRCh38] Chr9:732549 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3696+8C>T |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479851]|KANK1-related condition [RCV003923452]|not provided [RCV002159726] |
Chr9:740942 [GRCh38] Chr9:740942 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1785G>A (p.Val595=) |
single nucleotide variant |
not provided [RCV002216852] |
Chr9:712551 [GRCh38] Chr9:712551 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1239C>T (p.Val413=) |
single nucleotide variant |
not provided [RCV002120140] |
Chr9:712005 [GRCh38] Chr9:712005 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3105GGA[4] (p.Glu1039del) |
microsatellite |
KANK1-related condition [RCV003971163]|not provided [RCV002184260] |
Chr9:732475..732477 [GRCh38] Chr9:732475..732477 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.906C>T (p.Val302=) |
single nucleotide variant |
not provided [RCV002161519] |
Chr9:711672 [GRCh38] Chr9:711672 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.121C>T (p.Leu41=) |
single nucleotide variant |
not provided [RCV002084197] |
Chr9:710887 [GRCh38] Chr9:710887 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3057C>T (p.Ser1019=) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002494136]|not provided [RCV002219452] |
Chr9:732429 [GRCh38] Chr9:732429 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1196G>A (p.Arg399Gln) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002494488]|KANK1-related condition [RCV003951279]|not provided [RCV002158583] |
Chr9:711962 [GRCh38] Chr9:711962 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3855G>A (p.Leu1285=) |
single nucleotide variant |
not provided [RCV002200740] |
Chr9:742363 [GRCh38] Chr9:742363 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1995G>A (p.Val665=) |
single nucleotide variant |
KANK1-related condition [RCV003978548]|not provided [RCV002200106] |
Chr9:712761 [GRCh38] Chr9:712761 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3245+18T>A |
single nucleotide variant |
not provided [RCV002156622] |
Chr9:732635 [GRCh38] Chr9:732635 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3697-17G>C |
single nucleotide variant |
not provided [RCV002082537] |
Chr9:742188 [GRCh38] Chr9:742188 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3060G>A (p.Glu1020=) |
single nucleotide variant |
not provided [RCV002142168] |
Chr9:732432 [GRCh38] Chr9:732432 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1103G>A (p.Arg368Gln) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002498095]|KANK1-related condition [RCV003941268]|not provided [RCV002099492] |
Chr9:711869 [GRCh38] Chr9:711869 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2100A>G (p.Leu700=) |
single nucleotide variant |
KANK1-related condition [RCV003973765]|not provided [RCV003115822] |
Chr9:712866 [GRCh38] Chr9:712866 [GRCh37] Chr9:9p24.3 |
likely benign |
NC_000009.11:g.(?_382493)_(732637_?)dup |
duplication |
Combined immunodeficiency due to DOCK8 deficiency [RCV003114046] |
Chr9:382493..732637 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.11:g.(?_432146)_(847163_?)dup |
duplication |
Combined immunodeficiency due to DOCK8 deficiency [RCV003114049] |
Chr9:432146..847163 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.11:g.(?_367998)_(713484_?)dup |
duplication |
Combined immunodeficiency due to DOCK8 deficiency [RCV003114054] |
Chr9:367998..713484 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.11:g.(?_463497)_(745235_?)dup |
duplication |
Combined immunodeficiency due to DOCK8 deficiency [RCV003114056] |
Chr9:463497..745235 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3795C>T (p.Asp1265=) |
single nucleotide variant |
not provided [RCV003115778] |
Chr9:742303 [GRCh38] Chr9:742303 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2699-6T>C |
single nucleotide variant |
not provided [RCV003121236] |
Chr9:730045 [GRCh38] Chr9:730045 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1526C>T (p.Pro509Leu) |
single nucleotide variant |
not provided [RCV003121057] |
Chr9:712292 [GRCh38] Chr9:712292 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3931G>A (p.Ala1311Thr) |
single nucleotide variant |
not provided [RCV003118993] |
Chr9:744524 [GRCh38] Chr9:744524 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.11:g.(?_676973)_(2729727_?)del |
deletion |
not provided [RCV003119520] |
Chr9:676973..2729727 [GRCh37] Chr9:9p24.3-24.2 |
uncertain significance |
NC_000009.11:g.(?_463497)_(713484_?)dup |
duplication |
not provided [RCV003119521] |
Chr9:463497..713484 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NC_000009.11:g.(?_367998)_(677029_?)dup |
duplication |
not provided [RCV003119522] |
Chr9:367998..677029 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) |
copy number gain |
Tetrasomy 9p [RCV002280656] |
Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
NM_015158.5(KANK1):c.3755del (p.Gly1252fs) |
deletion |
not provided [RCV002276193] |
Chr9:742261 [GRCh38] Chr9:742261 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 |
copy number gain |
MISSED ABORTION [RCV002282974] |
Chr9:203861..35903398 [GRCh37] Chr9:9p24.3-13.3 |
pathogenic |
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) |
copy number loss |
Chromosome 9p deletion syndrome [RCV002280766] |
Chr9:203861..12127088 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 |
copy number gain |
Syndromic anorectal malformation [RCV002286608] |
Chr9:48827..39154913 [GRCh37] Chr9:9p24.3-13.1 |
likely pathogenic |
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) |
copy number loss |
Chromosome 9p deletion syndrome [RCV002280768] |
Chr9:203861..12570076 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
NC_000009.11:g.(504755_676889)_(677010_710803)del |
deletion |
not specified [RCV002283380] |
Chr9:676889..677010 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) |
copy number loss |
Chromosome 9p deletion syndrome [RCV002280770] |
Chr9:203861..7959823 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 |
copy number loss |
See cases [RCV002287555] |
Chr9:203861..15048247 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
NM_015158.5(KANK1):c.1225A>G (p.Met409Val) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV003131294]|Inborn genetic diseases [RCV003164826] |
Chr9:711991 [GRCh38] Chr9:711991 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:394523-518103)x3 |
copy number gain |
not provided [RCV002474959] |
Chr9:394523..518103 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4 |
copy number gain |
not provided [RCV002472665] |
Chr9:203862..5958840 [GRCh37] Chr9:9p24.3-24.1 |
likely pathogenic |
GRCh37/hg19 9p24.3(chr9:535492-685819)x3 |
copy number gain |
not provided [RCV002473445] |
Chr9:535492..685819 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.8A>G (p.His3Arg) |
single nucleotide variant |
not provided [RCV002303682] |
Chr9:676980 [GRCh38] Chr9:676980 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.38-3358_38-2787del |
deletion |
Schizophrenia [RCV002463498] |
Chr9:707446..708017 [GRCh38] Chr9:707446..708017 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3091C>T (p.Pro1031Ser) |
single nucleotide variant |
not provided [RCV002304135] |
Chr9:732463 [GRCh38] Chr9:732463 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1895A>G (p.Asp632Gly) |
single nucleotide variant |
not provided [RCV002305252] |
Chr9:712661 [GRCh38] Chr9:712661 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1171G>C (p.Glu391Gln) |
single nucleotide variant |
not provided [RCV002300337] |
Chr9:711937 [GRCh38] Chr9:711937 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.556A>G (p.Ser186Gly) |
single nucleotide variant |
not provided [RCV002295626] |
Chr9:711322 [GRCh38] Chr9:711322 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.59G>A (p.Ser20Asn) |
single nucleotide variant |
not provided [RCV002296205] |
Chr9:710825 [GRCh38] Chr9:710825 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3685A>C (p.Lys1229Gln) |
single nucleotide variant |
not provided [RCV002298965] |
Chr9:740923 [GRCh38] Chr9:740923 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3514C>A (p.His1172Asn) |
single nucleotide variant |
not provided [RCV002302992] |
Chr9:738465 [GRCh38] Chr9:738465 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2090A>G (p.Asn697Ser) |
single nucleotide variant |
not provided [RCV003032930] |
Chr9:712856 [GRCh38] Chr9:712856 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1582G>A (p.Gly528Ser) |
single nucleotide variant |
not provided [RCV002617153] |
Chr9:712348 [GRCh38] Chr9:712348 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2607C>T (p.Thr869=) |
single nucleotide variant |
KANK1-related condition [RCV003943479]|not provided [RCV002681748] |
Chr9:713373 [GRCh38] Chr9:713373 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1A>T (p.Met1Leu) |
single nucleotide variant |
not provided [RCV003014744] |
Chr9:676973 [GRCh38] Chr9:676973 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1984G>A (p.Val662Ile) |
single nucleotide variant |
not provided [RCV002616756] |
Chr9:712750 [GRCh38] Chr9:712750 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.197G>A (p.Arg66Lys) |
single nucleotide variant |
not provided [RCV002994945] |
Chr9:710963 [GRCh38] Chr9:710963 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.157C>A (p.Gln53Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002617067]|not provided [RCV002617066] |
Chr9:710923 [GRCh38] Chr9:710923 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3881G>A (p.Gly1294Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002840517] |
Chr9:742389 [GRCh38] Chr9:742389 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3245+15C>T |
single nucleotide variant |
not provided [RCV002881511] |
Chr9:732632 [GRCh38] Chr9:732632 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3448G>T (p.Val1150Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003308373]|not provided [RCV002971066] |
Chr9:738399 [GRCh38] Chr9:738399 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2239G>C (p.Gly747Arg) |
single nucleotide variant |
not provided [RCV002776063] |
Chr9:713005 [GRCh38] Chr9:713005 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1242G>T (p.Val414=) |
single nucleotide variant |
not provided [RCV002617175] |
Chr9:712008 [GRCh38] Chr9:712008 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1003C>T (p.Leu335Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002773996] |
Chr9:711769 [GRCh38] Chr9:711769 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2741C>T (p.Ser914Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003250673]|not provided [RCV002972211] |
Chr9:730093 [GRCh38] Chr9:730093 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3825C>T (p.Ser1275=) |
single nucleotide variant |
KANK1-related condition [RCV003946287]|not provided [RCV002615092] |
Chr9:742333 [GRCh38] Chr9:742333 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.3710C>T (p.Ala1237Val) |
single nucleotide variant |
not provided [RCV002815862] |
Chr9:742218 [GRCh38] Chr9:742218 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3955C>G (p.Leu1319Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002729187] |
Chr9:744548 [GRCh38] Chr9:744548 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1147G>A (p.Asp383Asn) |
single nucleotide variant |
not provided [RCV002614429] |
Chr9:711913 [GRCh38] Chr9:711913 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:341063-671330)x3 |
copy number gain |
not provided [RCV002475742] |
Chr9:341063..671330 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3906C>T (p.Ser1302=) |
single nucleotide variant |
not provided [RCV002756694] |
Chr9:744499 [GRCh38] Chr9:744499 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1758G>A (p.Val586=) |
single nucleotide variant |
not provided [RCV002866032] |
Chr9:712524 [GRCh38] Chr9:712524 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1283G>A (p.Gly428Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002979643]|not provided [RCV002994056] |
Chr9:712049 [GRCh38] Chr9:712049 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.124G>A (p.Asp42Asn) |
single nucleotide variant |
not provided [RCV002776591] |
Chr9:710890 [GRCh38] Chr9:710890 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3092C>T (p.Pro1031Leu) |
single nucleotide variant |
not provided [RCV002681818] |
Chr9:732464 [GRCh38] Chr9:732464 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.454C>A (p.Leu152Ile) |
single nucleotide variant |
not provided [RCV002975247] |
Chr9:711220 [GRCh38] Chr9:711220 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1659T>G (p.Pro553=) |
single nucleotide variant |
not provided [RCV002843714] |
Chr9:712425 [GRCh38] Chr9:712425 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2017A>G (p.Thr673Ala) |
single nucleotide variant |
not provided [RCV002775434] |
Chr9:712783 [GRCh38] Chr9:712783 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3236T>A (p.Ile1079Asn) |
single nucleotide variant |
not provided [RCV002771302] |
Chr9:732608 [GRCh38] Chr9:732608 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3(chr9:381430-839211)x3 |
copy number gain |
See cases [RCV000135717] |
Chr9:381430..839211 [GRCh38] Chr9:381430..839211 [GRCh37] Chr9:371430..829211 [NCBI36] Chr9:9p24.3 |
uncertain significance |
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 |
copy number loss |
See cases [RCV000135968] |
Chr9:204193..16897580 [GRCh38] Chr9:204193..16897578 [GRCh37] Chr9:194193..16887578 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3 |
copy number gain |
See cases [RCV000137339] |
Chr9:204104..5426099 [GRCh38] Chr9:204104..5426099 [GRCh37] Chr9:194104..5416099 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1 |
copy number loss |
See cases [RCV000137259] |
Chr9:204104..3367760 [GRCh38] Chr9:204104..3367760 [GRCh37] Chr9:194104..3357760 [NCBI36] Chr9:9p24.3-24.2 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 |
copy number gain |
See cases [RCV000139126] |
Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 |
copy number gain |
See cases [RCV000240048] |
Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 |
copy number gain |
See cases [RCV000449165] |
Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) |
copy number gain |
See cases [RCV000449375] |
Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:367918-639010)x1 |
copy number loss |
See cases [RCV000449253] |
Chr9:367918..639010 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 |
copy number gain |
not specified [RCV003986800] |
Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) |
copy number gain |
See cases [RCV000447246] |
Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:304377-639010)x3 |
copy number gain |
See cases [RCV000448505] |
Chr9:304377..639010 [GRCh37] Chr9:9p24.3 |
benign |
GRCh37/hg19 9p24.3(chr9:517445-632804)x3 |
copy number gain |
See cases [RCV000510171] |
Chr9:517445..632804 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:403284-660290)x3 |
copy number gain |
See cases [RCV000511652] |
Chr9:403284..660290 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3(chr9:314208-517446)x3 |
copy number gain |
See cases [RCV000511931] |
Chr9:314208..517446 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203861-539781)x1 |
copy number loss |
See cases [RCV000510930] |
Chr9:203861..539781 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 |
copy number gain |
not provided [RCV000683171] |
Chr9:203861..26397133 [GRCh37] Chr9:9p24.3-21.2 |
pathogenic |
NM_015158.5(KANK1):c.1732C>T (p.His578Tyr) |
single nucleotide variant |
KANK1-related condition [RCV003970533]|not provided [RCV000925757] |
Chr9:712498 [GRCh38] Chr9:712498 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3(chr9:608682-705931)x1 |
copy number loss |
not provided [RCV000846365] |
Chr9:608682..705931 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 |
copy number gain |
not provided [RCV000845664] |
Chr9:203861..19448473 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:402293-518499)x3 |
copy number gain |
not provided [RCV000846030] |
Chr9:402293..518499 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1952A>C (p.Asn651Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003271594] |
Chr9:712718 [GRCh38] Chr9:712718 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3102A>G (p.Glu1034=) |
single nucleotide variant |
not provided [RCV000958136] |
Chr9:732474 [GRCh38] Chr9:732474 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2058C>T (p.Thr686=) |
single nucleotide variant |
not provided [RCV002681192] |
Chr9:712824 [GRCh38] Chr9:712824 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2699-270_2699-269insG |
insertion |
not provided [RCV001636389] |
Chr9:729781..729782 [GRCh38] Chr9:729781..729782 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.560T>A (p.Phe187Tyr) |
single nucleotide variant |
not provided [RCV001889539] |
Chr9:711326 [GRCh38] Chr9:711326 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1269G>C (p.Lys423Asn) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV002479571]|not provided [RCV002021857] |
Chr9:712035 [GRCh38] Chr9:712035 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1277_1282dup (p.Ala426_Val427dup) |
duplication |
KANK1-related condition [RCV003951177]|not provided [RCV002104356] |
Chr9:712040..712041 [GRCh38] Chr9:712040..712041 [GRCh37] Chr9:9p24.3 |
benign|likely benign |
NM_015158.5(KANK1):c.792C>G (p.Arg264=) |
single nucleotide variant |
not provided [RCV002082577] |
Chr9:711558 [GRCh38] Chr9:711558 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 |
copy number gain |
See cases [RCV002292402] |
Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11 |
pathogenic |
GRCh37/hg19 9p24.3(chr9:203862-900186)x3 |
copy number gain |
not provided [RCV002473739] |
Chr9:203862..900186 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1730T>G (p.Met577Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002754776] |
Chr9:712496 [GRCh38] Chr9:712496 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3886C>G (p.Leu1296Val) |
single nucleotide variant |
not provided [RCV002616360] |
Chr9:742394 [GRCh38] Chr9:742394 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3334-13G>T |
single nucleotide variant |
not provided [RCV002726988] |
Chr9:738272 [GRCh38] Chr9:738272 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2142G>A (p.Thr714=) |
single nucleotide variant |
not provided [RCV002681962] |
Chr9:712908 [GRCh38] Chr9:712908 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3323G>C (p.Ser1108Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002879713] |
Chr9:734825 [GRCh38] Chr9:734825 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.977C>G (p.Ala326Gly) |
single nucleotide variant |
not provided [RCV003014680] |
Chr9:711743 [GRCh38] Chr9:711743 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3123A>G (p.Glu1041=) |
single nucleotide variant |
KANK1-related condition [RCV003936318]|not provided [RCV002770981] |
Chr9:732495 [GRCh38] Chr9:732495 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.820C>T (p.Leu274=) |
single nucleotide variant |
not provided [RCV002995131] |
Chr9:711586 [GRCh38] Chr9:711586 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2897C>T (p.Ala966Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002879630] |
Chr9:731158 [GRCh38] Chr9:731158 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2880C>T (p.Ile960=) |
single nucleotide variant |
not provided [RCV003076737] |
Chr9:730232 [GRCh38] Chr9:730232 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.977C>T (p.Ala326Val) |
single nucleotide variant |
not provided [RCV002904469] |
Chr9:711743 [GRCh38] Chr9:711743 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.427C>T (p.Pro143Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002753591] |
Chr9:711193 [GRCh38] Chr9:711193 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.528G>T (p.Pro176=) |
single nucleotide variant |
not provided [RCV003034428] |
Chr9:711294 [GRCh38] Chr9:711294 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1765T>C (p.Cys589Arg) |
single nucleotide variant |
not provided [RCV002613458] |
Chr9:712531 [GRCh38] Chr9:712531 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2163A>G (p.Glu721=) |
single nucleotide variant |
KANK1-related condition [RCV003961332]|not provided [RCV002967734] |
Chr9:712929 [GRCh38] Chr9:712929 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3213A>T (p.Glu1071Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002969864]|not provided [RCV003561139] |
Chr9:732585 [GRCh38] Chr9:732585 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1182G>A (p.Glu394=) |
single nucleotide variant |
not provided [RCV003035725] |
Chr9:711948 [GRCh38] Chr9:711948 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1774A>T (p.Ser592Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002782016] |
Chr9:712540 [GRCh38] Chr9:712540 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2159G>C (p.Gly720Ala) |
single nucleotide variant |
not provided [RCV002785287] |
Chr9:712925 [GRCh38] Chr9:712925 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3298A>G (p.Ile1100Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002821284]|not provided [RCV003546889] |
Chr9:734800 [GRCh38] Chr9:734800 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3620C>A (p.Ala1207Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002912240] |
Chr9:740858 [GRCh38] Chr9:740858 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3131G>A (p.Arg1044Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002977983]|not provided [RCV003111733] |
Chr9:732503 [GRCh38] Chr9:732503 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.356C>G (p.Ser119Ter) |
single nucleotide variant |
not specified [RCV002510354] |
Chr9:711122 [GRCh38] Chr9:711122 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1039A>C (p.Ile347Leu) |
single nucleotide variant |
not provided [RCV002796267] |
Chr9:711805 [GRCh38] Chr9:711805 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.265A>G (p.Thr89Ala) |
single nucleotide variant |
not provided [RCV003021405] |
Chr9:711031 [GRCh38] Chr9:711031 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.824A>G (p.Lys275Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002707546] |
Chr9:711590 [GRCh38] Chr9:711590 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3699G>A (p.Ala1233=) |
single nucleotide variant |
not provided [RCV002619628] |
Chr9:742207 [GRCh38] Chr9:742207 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2897-13_2897-9del |
deletion |
not provided [RCV002695315] |
Chr9:731142..731146 [GRCh38] Chr9:731142..731146 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.196A>G (p.Arg66Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002596137]|not provided [RCV002619740] |
Chr9:710962 [GRCh38] Chr9:710962 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1555G>T (p.Val519Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002782421] |
Chr9:712321 [GRCh38] Chr9:712321 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3467A>G (p.Asn1156Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003080320]|not provided [RCV003080319] |
Chr9:738418 [GRCh38] Chr9:738418 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1497A>G (p.Lys499=) |
single nucleotide variant |
not provided [RCV002690825] |
Chr9:712263 [GRCh38] Chr9:712263 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3828G>A (p.Glu1276=) |
single nucleotide variant |
not provided [RCV002952854] |
Chr9:742336 [GRCh38] Chr9:742336 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.800T>C (p.Met267Thr) |
single nucleotide variant |
not provided [RCV002621783] |
Chr9:711566 [GRCh38] Chr9:711566 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3776_3778del (p.Asp1259del) |
deletion |
not provided [RCV002740055] |
Chr9:742282..742284 [GRCh38] Chr9:742282..742284 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.612C>G (p.Asn204Lys) |
single nucleotide variant |
not provided [RCV002621824] |
Chr9:711378 [GRCh38] Chr9:711378 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2956G>T (p.Asp986Tyr) |
single nucleotide variant |
not provided [RCV002639551] |
Chr9:731217 [GRCh38] Chr9:731217 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3091C>G (p.Pro1031Ala) |
single nucleotide variant |
not provided [RCV002824198] |
Chr9:732463 [GRCh38] Chr9:732463 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1371G>A (p.Leu457=) |
single nucleotide variant |
not provided [RCV002979832] |
Chr9:712137 [GRCh38] Chr9:712137 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3240A>G (p.Arg1080=) |
single nucleotide variant |
not provided [RCV002909819] |
Chr9:732612 [GRCh38] Chr9:732612 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.3443C>G (p.Pro1148Arg) |
single nucleotide variant |
not provided [RCV002639443] |
Chr9:738394 [GRCh38] Chr9:738394 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3694C>G (p.Gln1232Glu) |
single nucleotide variant |
not provided [RCV003100426] |
Chr9:740932 [GRCh38] Chr9:740932 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3570T>C (p.Asp1190=) |
single nucleotide variant |
KANK1-related condition [RCV003906529]|not provided [RCV002591960] |
Chr9:740808 [GRCh38] Chr9:740808 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2265G>A (p.Lys755=) |
single nucleotide variant |
not provided [RCV002952816] |
Chr9:713031 [GRCh38] Chr9:713031 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2279G>A (p.Gly760Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003164787]|not provided [RCV002576363] |
Chr9:713045 [GRCh38] Chr9:713045 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3006-16C>G |
single nucleotide variant |
not provided [RCV002805859] |
Chr9:732362 [GRCh38] Chr9:732362 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.920dup (p.Asn307fs) |
duplication |
not provided [RCV002876849] |
Chr9:711681..711682 [GRCh38] Chr9:711681..711682 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3959T>C (p.Leu1320Pro) |
single nucleotide variant |
not provided [RCV002668083] |
Chr9:744552 [GRCh38] Chr9:744552 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.208T>C (p.Ser70Pro) |
single nucleotide variant |
not provided [RCV002595735] |
Chr9:710974 [GRCh38] Chr9:710974 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2912A>G (p.Glu971Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002712860] |
Chr9:731173 [GRCh38] Chr9:731173 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.149A>G (p.Asp50Gly) |
single nucleotide variant |
not provided [RCV002805425] |
Chr9:710915 [GRCh38] Chr9:710915 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3980C>T (p.Ala1327Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002713489] |
Chr9:744573 [GRCh38] Chr9:744573 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1009C>T (p.Arg337Trp) |
single nucleotide variant |
not provided [RCV002933052] |
Chr9:711775 [GRCh38] Chr9:711775 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2200C>T (p.Arg734Trp) |
single nucleotide variant |
not provided [RCV002958794] |
Chr9:712966 [GRCh38] Chr9:712966 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.504_514dup (p.Met172fs) |
duplication |
not provided [RCV002711798] |
Chr9:711268..711269 [GRCh38] Chr9:711268..711269 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.984C>A (p.Asn328Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002666464]|not provided [RCV003778547] |
Chr9:711750 [GRCh38] Chr9:711750 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.646T>C (p.Tyr216His) |
single nucleotide variant |
not provided [RCV002801357] |
Chr9:711412 [GRCh38] Chr9:711412 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3247T>C (p.Tyr1083His) |
single nucleotide variant |
not provided [RCV002663855] |
Chr9:734749 [GRCh38] Chr9:734749 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2674A>C (p.Lys892Gln) |
single nucleotide variant |
not provided [RCV002663627] |
Chr9:713440 [GRCh38] Chr9:713440 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2881G>A (p.Ala961Thr) |
single nucleotide variant |
not provided [RCV002624813] |
Chr9:730233 [GRCh38] Chr9:730233 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2894A>G (p.Tyr965Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003289579]|not provided [RCV002642529] |
Chr9:730246 [GRCh38] Chr9:730246 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1821G>A (p.Glu607=) |
single nucleotide variant |
not provided [RCV002700206] |
Chr9:712587 [GRCh38] Chr9:712587 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3871G>A (p.Gly1291Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002891131]|not provided [RCV002891132] |
Chr9:742379 [GRCh38] Chr9:742379 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1027G>A (p.Gly343Arg) |
single nucleotide variant |
not provided [RCV002766168] |
Chr9:711793 [GRCh38] Chr9:711793 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2059G>A (p.Glu687Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002764265]|not provided [RCV003738356] |
Chr9:712825 [GRCh38] Chr9:712825 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3422C>G (p.Ala1141Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002764709] |
Chr9:738373 [GRCh38] Chr9:738373 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3672G>A (p.Gly1224=) |
single nucleotide variant |
not provided [RCV002740605] |
Chr9:740910 [GRCh38] Chr9:740910 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1397A>G (p.Lys466Arg) |
single nucleotide variant |
not provided [RCV002933172] |
Chr9:712163 [GRCh38] Chr9:712163 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2831C>T (p.Pro944Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002742633] |
Chr9:730183 [GRCh38] Chr9:730183 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1165T>G (p.Ser389Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003167528]|not provided [RCV002626584] |
Chr9:711931 [GRCh38] Chr9:711931 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2160A>G (p.Gly720=) |
single nucleotide variant |
not provided [RCV002852049] |
Chr9:712926 [GRCh38] Chr9:712926 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.323T>C (p.Ile108Thr) |
single nucleotide variant |
not provided [RCV003039881] |
Chr9:711089 [GRCh38] Chr9:711089 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3099AGA[1] (p.Glu1039del) |
microsatellite |
not provided [RCV002594635] |
Chr9:732469..732471 [GRCh38] Chr9:732469..732471 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2306A>G (p.Asn769Ser) |
single nucleotide variant |
not provided [RCV003043229] |
Chr9:713072 [GRCh38] Chr9:713072 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1501G>A (p.Val501Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002598418]|not provided [RCV002625647] |
Chr9:712267 [GRCh38] Chr9:712267 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2420C>A (p.Ser807Tyr) |
single nucleotide variant |
not provided [RCV002957234] |
Chr9:713186 [GRCh38] Chr9:713186 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1527G>A (p.Pro509=) |
single nucleotide variant |
not provided [RCV002595988] |
Chr9:712293 [GRCh38] Chr9:712293 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.822G>T (p.Leu274=) |
single nucleotide variant |
not provided [RCV002575093] |
Chr9:711588 [GRCh38] Chr9:711588 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2176G>A (p.Asp726Asn) |
single nucleotide variant |
not provided [RCV002595121] |
Chr9:712942 [GRCh38] Chr9:712942 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2663C>G (p.Pro888Arg) |
single nucleotide variant |
not provided [RCV002958067] |
Chr9:713429 [GRCh38] Chr9:713429 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3625G>A (p.Glu1209Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002958239]|not provided [RCV002958240] |
Chr9:740863 [GRCh38] Chr9:740863 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.219C>T (p.Cys73=) |
single nucleotide variant |
not provided [RCV002800920] |
Chr9:710985 [GRCh38] Chr9:710985 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2621A>G (p.Asn874Ser) |
single nucleotide variant |
not provided [RCV002573926] |
Chr9:713387 [GRCh38] Chr9:713387 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3697-7C>T |
single nucleotide variant |
not provided [RCV002596053] |
Chr9:742198 [GRCh38] Chr9:742198 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1428T>G (p.Leu476=) |
single nucleotide variant |
not provided [RCV002574467] |
Chr9:712194 [GRCh38] Chr9:712194 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2896+8T>A |
single nucleotide variant |
not provided [RCV002642430] |
Chr9:730256 [GRCh38] Chr9:730256 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1567A>G (p.Arg523Gly) |
single nucleotide variant |
not provided [RCV003044869] |
Chr9:712333 [GRCh38] Chr9:712333 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3416A>G (p.Tyr1139Cys) |
single nucleotide variant |
KANK1-related condition [RCV003926418]|not provided [RCV002578857] |
Chr9:738367 [GRCh38] Chr9:738367 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2229T>C (p.Ser743=) |
single nucleotide variant |
not provided [RCV002671145] |
Chr9:712995 [GRCh38] Chr9:712995 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2943A>G (p.Lys981=) |
single nucleotide variant |
not provided [RCV002941981] |
Chr9:731204 [GRCh38] Chr9:731204 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3217G>C (p.Glu1073Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002633380]|not provided [RCV002650986] |
Chr9:732589 [GRCh38] Chr9:732589 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
NM_015158.5(KANK1):c.1010G>A (p.Arg337Gln) |
single nucleotide variant |
not provided [RCV002966527] |
Chr9:711776 [GRCh38] Chr9:711776 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2003C>G (p.Thr668Ser) |
single nucleotide variant |
not provided [RCV002715704] |
Chr9:712769 [GRCh38] Chr9:712769 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1616G>A (p.Gly539Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003010927] |
Chr9:712382 [GRCh38] Chr9:712382 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3436A>T (p.Ile1146Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002940697] |
Chr9:738387 [GRCh38] Chr9:738387 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1002G>T (p.Gln334His) |
single nucleotide variant |
Inborn genetic diseases [RCV002769660] |
Chr9:711768 [GRCh38] Chr9:711768 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.323T>G (p.Ile108Arg) |
single nucleotide variant |
not provided [RCV002581307] |
Chr9:711089 [GRCh38] Chr9:711089 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2416G>C (p.Glu806Gln) |
single nucleotide variant |
not provided [RCV002632741] |
Chr9:713182 [GRCh38] Chr9:713182 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3412G>T (p.Asp1138Tyr) |
single nucleotide variant |
not provided [RCV002627465] |
Chr9:738363 [GRCh38] Chr9:738363 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.983A>G (p.Asn328Ser) |
single nucleotide variant |
not provided [RCV002937082] |
Chr9:711749 [GRCh38] Chr9:711749 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3941A>G (p.Lys1314Arg) |
single nucleotide variant |
not provided [RCV002962549] |
Chr9:744534 [GRCh38] Chr9:744534 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1935C>T (p.Cys645=) |
single nucleotide variant |
not provided [RCV002646086] |
Chr9:712701 [GRCh38] Chr9:712701 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1979C>T (p.Ala660Val) |
single nucleotide variant |
not provided [RCV002598713] |
Chr9:712745 [GRCh38] Chr9:712745 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.221C>T (p.Pro74Leu) |
single nucleotide variant |
not provided [RCV002649482] |
Chr9:710987 [GRCh38] Chr9:710987 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.287A>G (p.Asn96Ser) |
single nucleotide variant |
not provided [RCV002963264] |
Chr9:711053 [GRCh38] Chr9:711053 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.413G>A (p.Arg138Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002896811] |
Chr9:711179 [GRCh38] Chr9:711179 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.627G>C (p.Lys209Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002748191] |
Chr9:711393 [GRCh38] Chr9:711393 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3708G>A (p.Thr1236=) |
single nucleotide variant |
not provided [RCV002597453] |
Chr9:742216 [GRCh38] Chr9:742216 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2582C>T (p.Ser861Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002921227] |
Chr9:713348 [GRCh38] Chr9:713348 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3100G>C (p.Glu1034Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002769736] |
Chr9:732472 [GRCh38] Chr9:732472 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3299T>C (p.Ile1100Thr) |
single nucleotide variant |
not provided [RCV003044284] |
Chr9:734801 [GRCh38] Chr9:734801 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3053C>A (p.Ser1018Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002896638] |
Chr9:732425 [GRCh38] Chr9:732425 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2432C>T (p.Pro811Leu) |
single nucleotide variant |
not provided [RCV003088564] |
Chr9:713198 [GRCh38] Chr9:713198 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3641T>G (p.Met1214Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002792809] |
Chr9:740879 [GRCh38] Chr9:740879 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2761C>G (p.Gln921Glu) |
single nucleotide variant |
not provided [RCV002576941] |
Chr9:730113 [GRCh38] Chr9:730113 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3832G>A (p.Gly1278Arg) |
single nucleotide variant |
not provided [RCV002579857] |
Chr9:742340 [GRCh38] Chr9:742340 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2082C>G (p.Ser694=) |
single nucleotide variant |
not provided [RCV002857549] |
Chr9:712848 [GRCh38] Chr9:712848 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2598C>T (p.Leu866=) |
single nucleotide variant |
not provided [RCV003044749] |
Chr9:713364 [GRCh38] Chr9:713364 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.4043G>A (p.Arg1348Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002675019]|not provided [RCV003730367] |
Chr9:745219 [GRCh38] Chr9:745219 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2475C>G (p.His825Gln) |
single nucleotide variant |
not provided [RCV003026325] |
Chr9:713241 [GRCh38] Chr9:713241 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1868A>G (p.Lys623Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003377884]|not provided [RCV002581691] |
Chr9:712634 [GRCh38] Chr9:712634 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.205C>T (p.Pro69Ser) |
single nucleotide variant |
not provided [RCV003044341] |
Chr9:710971 [GRCh38] Chr9:710971 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.207G>A (p.Pro69=) |
single nucleotide variant |
not provided [RCV003087141] |
Chr9:710973 [GRCh38] Chr9:710973 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2896+13A>C |
single nucleotide variant |
not provided [RCV003048275] |
Chr9:730261 [GRCh38] Chr9:730261 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.270A>C (p.Glu90Asp) |
single nucleotide variant |
not provided [RCV003064375] |
Chr9:711036 [GRCh38] Chr9:711036 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.88C>T (p.Pro30Ser) |
single nucleotide variant |
not provided [RCV002720633] |
Chr9:710854 [GRCh38] Chr9:710854 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1437C>T (p.Thr479=) |
single nucleotide variant |
not provided [RCV002966368] |
Chr9:712203 [GRCh38] Chr9:712203 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2765C>A (p.Thr922Lys) |
single nucleotide variant |
not provided [RCV002598481] |
Chr9:730117 [GRCh38] Chr9:730117 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.313A>G (p.Asn105Asp) |
single nucleotide variant |
not provided [RCV002601906] |
Chr9:711079 [GRCh38] Chr9:711079 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2471A>G (p.Asp824Gly) |
single nucleotide variant |
KANK1-related condition [RCV003926742]|not provided [RCV002650984] |
Chr9:713237 [GRCh38] Chr9:713237 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
NM_015158.5(KANK1):c.1414C>T (p.Leu472=) |
single nucleotide variant |
not provided [RCV002576873] |
Chr9:712180 [GRCh38] Chr9:712180 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.677C>T (p.Ala226Val) |
single nucleotide variant |
not provided [RCV002715703] |
Chr9:711443 [GRCh38] Chr9:711443 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1191G>T (p.Glu397Asp) |
single nucleotide variant |
not provided [RCV002632188] |
Chr9:711957 [GRCh38] Chr9:711957 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3526G>A (p.Glu1176Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003161869]|not provided [RCV002578981] |
Chr9:738477 [GRCh38] Chr9:738477 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3736C>T (p.Arg1246Trp) |
single nucleotide variant |
not provided [RCV003011022] |
Chr9:742244 [GRCh38] Chr9:742244 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3472G>A (p.Ala1158Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002723139] |
Chr9:738423 [GRCh38] Chr9:738423 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2947G>C (p.Gly983Arg) |
single nucleotide variant |
not provided [RCV002726019] |
Chr9:731208 [GRCh38] Chr9:731208 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1971G>A (p.Gln657=) |
single nucleotide variant |
not provided [RCV003068462] |
Chr9:712737 [GRCh38] Chr9:712737 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.1834G>A (p.Asp612Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002583162]|not provided [RCV002583161] |
Chr9:712600 [GRCh38] Chr9:712600 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1798T>A (p.Cys600Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002655258] |
Chr9:712564 [GRCh38] Chr9:712564 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.545C>A (p.Pro182His) |
single nucleotide variant |
not provided [RCV002604679] |
Chr9:711311 [GRCh38] Chr9:711311 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2062A>T (p.Thr688Ser) |
single nucleotide variant |
not provided [RCV002654770] |
Chr9:712828 [GRCh38] Chr9:712828 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1457C>T (p.Thr486Ile) |
single nucleotide variant |
not provided [RCV003092226] |
Chr9:712223 [GRCh38] Chr9:712223 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3686A>T (p.Lys1229Ile) |
single nucleotide variant |
not provided [RCV003066163] |
Chr9:740924 [GRCh38] Chr9:740924 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3106G>A (p.Glu1036Lys) |
single nucleotide variant |
not provided [RCV003068929] |
Chr9:732478 [GRCh38] Chr9:732478 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2074A>G (p.Ile692Val) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV003134592]|Inborn genetic diseases [RCV003274166]|not provided [RCV003050209] |
Chr9:712840 [GRCh38] Chr9:712840 [GRCh37] Chr9:9p24.3 |
likely benign|uncertain significance |
NM_015158.5(KANK1):c.2809A>G (p.Ile937Val) |
single nucleotide variant |
not provided [RCV002582383] |
Chr9:730161 [GRCh38] Chr9:730161 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2903C>T (p.Thr968Ile) |
single nucleotide variant |
not provided [RCV003070339] |
Chr9:731164 [GRCh38] Chr9:731164 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1026C>T (p.Gly342=) |
single nucleotide variant |
not provided [RCV002606719] |
Chr9:711792 [GRCh38] Chr9:711792 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2281G>A (p.Val761Met) |
single nucleotide variant |
not provided [RCV002657753] |
Chr9:713047 [GRCh38] Chr9:713047 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3050C>T (p.Ser1017Phe) |
single nucleotide variant |
not provided [RCV002583430] |
Chr9:732422 [GRCh38] Chr9:732422 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.290G>C (p.Ser97Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002680239] |
Chr9:711056 [GRCh38] Chr9:711056 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3245+16_3245+21del |
deletion |
not provided [RCV002586793] |
Chr9:732628..732633 [GRCh38] Chr9:732628..732633 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.704T>C (p.Met235Thr) |
single nucleotide variant |
not provided [RCV002604647] |
Chr9:711470 [GRCh38] Chr9:711470 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1678G>A (p.Val560Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003367968]|not provided [RCV003067940] |
Chr9:712444 [GRCh38] Chr9:712444 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.380C>T (p.Thr127Ile) |
single nucleotide variant |
not provided [RCV002944086] |
Chr9:711146 [GRCh38] Chr9:711146 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3911C>T (p.Ala1304Val) |
single nucleotide variant |
not provided [RCV002725523] |
Chr9:744504 [GRCh38] Chr9:744504 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3246-13T>C |
single nucleotide variant |
not provided [RCV002585839] |
Chr9:734735 [GRCh38] Chr9:734735 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1591A>G (p.Met531Val) |
single nucleotide variant |
not provided [RCV002612374] |
Chr9:712357 [GRCh38] Chr9:712357 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1083G>A (p.Thr361=) |
single nucleotide variant |
not provided [RCV002612457] |
Chr9:711849 [GRCh38] Chr9:711849 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3243G>C (p.Glu1081Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003215647] |
Chr9:732615 [GRCh38] Chr9:732615 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1453A>T (p.Met485Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003193414] |
Chr9:712219 [GRCh38] Chr9:712219 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3890A>T (p.Glu1297Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003210879] |
Chr9:742398 [GRCh38] Chr9:742398 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.717C>G (p.Ile239Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003210668] |
Chr9:711483 [GRCh38] Chr9:711483 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1573C>A (p.Gln525Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003191791] |
Chr9:712339 [GRCh38] Chr9:712339 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3103G>A (p.Glu1035Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003214576] |
Chr9:732475 [GRCh38] Chr9:732475 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3758T>G (p.Leu1253Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003199828] |
Chr9:742266 [GRCh38] Chr9:742266 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2174A>C (p.Lys725Thr) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV003133771] |
Chr9:712940 [GRCh38] Chr9:712940 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.580A>G (p.Ser194Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003198292] |
Chr9:711346 [GRCh38] Chr9:711346 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.815A>C (p.Lys272Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003195273] |
Chr9:711581 [GRCh38] Chr9:711581 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2435A>C (p.Gln812Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003287575] |
Chr9:713201 [GRCh38] Chr9:713201 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.4033C>A (p.Pro1345Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003310012] |
Chr9:745209 [GRCh38] Chr9:745209 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2223G>C (p.Leu741Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003364260] |
Chr9:712989 [GRCh38] Chr9:712989 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3285A>C (p.Leu1095Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003373880] |
Chr9:734787 [GRCh38] Chr9:734787 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.271T>A (p.Ser91Thr) |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV003333340] |
Chr9:711037 [GRCh38] Chr9:711037 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1892G>A (p.Gly631Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003376118] |
Chr9:712658 [GRCh38] Chr9:712658 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:314209-470461)x3 |
copy number gain |
not provided [RCV003484762] |
Chr9:314209..470461 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:416418-602890)x3 |
copy number gain |
not provided [RCV003484764] |
Chr9:416418..602890 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1800C>T (p.Cys600=) |
single nucleotide variant |
not provided [RCV003874318] |
Chr9:712566 [GRCh38] Chr9:712566 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1051G>A (p.Glu351Lys) |
single nucleotide variant |
not provided [RCV003874498] |
Chr9:711817 [GRCh38] Chr9:711817 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:203862-1470291)x1 |
copy number loss |
not provided [RCV003483044] |
Chr9:203862..1470291 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:479812-511756)x1 |
copy number loss |
not provided [RCV003483047] |
Chr9:479812..511756 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:254071-749833)x3 |
copy number gain |
not provided [RCV003484761] |
Chr9:254071..749833 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3(chr9:341089-905937)x3 |
copy number gain |
not provided [RCV003484763] |
Chr9:341089..905937 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.603T>G (p.Gly201=) |
single nucleotide variant |
not provided [RCV003435676] |
Chr9:711369 [GRCh38] Chr9:711369 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2118G>T (p.Gln706His) |
single nucleotide variant |
KANK1-related condition [RCV003427878] |
Chr9:712884 [GRCh38] Chr9:712884 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2335A>G (p.Ile779Val) |
single nucleotide variant |
KANK1-related condition [RCV003406102] |
Chr9:713101 [GRCh38] Chr9:713101 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3478G>A (p.Gly1160Ser) |
single nucleotide variant |
not provided [RCV003425597] |
Chr9:738429 [GRCh38] Chr9:738429 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3334-3C>T |
single nucleotide variant |
not provided [RCV003435677] |
Chr9:738282 [GRCh38] Chr9:738282 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1_2delinsTG (p.Met1Trp) |
indel |
KANK1-related condition [RCV003418915] |
Chr9:676973..676974 [GRCh38] Chr9:676973..676974 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.3:c.3554_3556dupATG |
duplication |
KANK1-related condition [RCV003421046] |
|
uncertain significance |
NM_015158.5(KANK1):c.4003C>T (p.Pro1335Ser) |
single nucleotide variant |
not provided [RCV003435678] |
Chr9:745179 [GRCh38] Chr9:745179 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.38-2535T>G |
single nucleotide variant |
not provided [RCV003435674] |
Chr9:708269 [GRCh38] Chr9:708269 [GRCh37] Chr9:9p24.3 |
benign |
Single allele |
deletion |
not provided [RCV003448696] |
Chr9:204064..16456192 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
NM_015158.5(KANK1):c.38-2A>T |
single nucleotide variant |
not provided [RCV003435675] |
Chr9:710802 [GRCh38] Chr9:710802 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3237del (p.Arg1080fs) |
deletion |
not provided [RCV003696336] |
Chr9:732609 [GRCh38] Chr9:732609 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2075T>C (p.Ile692Thr) |
single nucleotide variant |
not provided [RCV003715812] |
Chr9:712841 [GRCh38] Chr9:712841 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2772G>C (p.Gln924His) |
single nucleotide variant |
not provided [RCV003696365] |
Chr9:730124 [GRCh38] Chr9:730124 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3428T>C (p.Phe1143Ser) |
single nucleotide variant |
not provided [RCV003881548] |
Chr9:738379 [GRCh38] Chr9:738379 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3897+1G>A |
single nucleotide variant |
not provided [RCV003831387] |
Chr9:742406 [GRCh38] Chr9:742406 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3573C>G (p.His1191Gln) |
single nucleotide variant |
not provided [RCV003831643] |
Chr9:740811 [GRCh38] Chr9:740811 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3640A>C (p.Met1214Leu) |
single nucleotide variant |
not provided [RCV003831644] |
Chr9:740878 [GRCh38] Chr9:740878 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1448G>A (p.Arg483Gln) |
single nucleotide variant |
not provided [RCV003573219] |
Chr9:712214 [GRCh38] Chr9:712214 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2967C>T (p.Gly989=) |
single nucleotide variant |
not provided [RCV003739966] |
Chr9:731228 [GRCh38] Chr9:731228 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2241G>A (p.Gly747=) |
single nucleotide variant |
not provided [RCV003713640] |
Chr9:713007 [GRCh38] Chr9:713007 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1152C>T (p.Ser384=) |
single nucleotide variant |
not provided [RCV003878331] |
Chr9:711918 [GRCh38] Chr9:711918 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.206C>G (p.Pro69Arg) |
single nucleotide variant |
not provided [RCV003713924] |
Chr9:710972 [GRCh38] Chr9:710972 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3723G>A (p.Ala1241=) |
single nucleotide variant |
not provided [RCV003545181] |
Chr9:742231 [GRCh38] Chr9:742231 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1936G>A (p.Ala646Thr) |
single nucleotide variant |
not provided [RCV003880774] |
Chr9:712702 [GRCh38] Chr9:712702 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3902G>A (p.Gly1301Asp) |
single nucleotide variant |
not provided [RCV003575955] |
Chr9:744495 [GRCh38] Chr9:744495 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3997-19T>C |
single nucleotide variant |
not provided [RCV003881606] |
Chr9:745154 [GRCh38] Chr9:745154 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.458A>G (p.His153Arg) |
single nucleotide variant |
not provided [RCV003576027] |
Chr9:711224 [GRCh38] Chr9:711224 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3391G>C (p.Ala1131Pro) |
single nucleotide variant |
not provided [RCV003577989] |
Chr9:738342 [GRCh38] Chr9:738342 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1782T>C (p.Ser594=) |
single nucleotide variant |
not provided [RCV003573456] |
Chr9:712548 [GRCh38] Chr9:712548 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3759T>C (p.Leu1253=) |
single nucleotide variant |
not provided [RCV003661791] |
Chr9:742267 [GRCh38] Chr9:742267 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3445G>C (p.Asp1149His) |
single nucleotide variant |
not provided [RCV003545410] |
Chr9:738396 [GRCh38] Chr9:738396 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3090T>A (p.Tyr1030Ter) |
single nucleotide variant |
not provided [RCV003695976] |
Chr9:732462 [GRCh38] Chr9:732462 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.969C>T (p.Ser323=) |
single nucleotide variant |
not provided [RCV003689753] |
Chr9:711735 [GRCh38] Chr9:711735 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.792C>T (p.Arg264=) |
single nucleotide variant |
not provided [RCV003546216] |
Chr9:711558 [GRCh38] Chr9:711558 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3333+3G>A |
single nucleotide variant |
not provided [RCV003544991] |
Chr9:734838 [GRCh38] Chr9:734838 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1968C>A (p.Ser656Arg) |
single nucleotide variant |
not provided [RCV003876280] |
Chr9:712734 [GRCh38] Chr9:712734 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.935C>T (p.Ser312Phe) |
single nucleotide variant |
not provided [RCV003659566] |
Chr9:711701 [GRCh38] Chr9:711701 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1483G>A (p.Ala495Thr) |
single nucleotide variant |
not provided [RCV003811923] |
Chr9:712249 [GRCh38] Chr9:712249 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3648T>C (p.Ile1216=) |
single nucleotide variant |
not provided [RCV003850259] |
Chr9:740886 [GRCh38] Chr9:740886 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2970A>C (p.Ala990=) |
single nucleotide variant |
not provided [RCV003717995] |
Chr9:731231 [GRCh38] Chr9:731231 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2200C>G (p.Arg734Gly) |
single nucleotide variant |
not provided [RCV003850594] |
Chr9:712966 [GRCh38] Chr9:712966 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1508A>G (p.Lys503Arg) |
single nucleotide variant |
not provided [RCV003833300] |
Chr9:712274 [GRCh38] Chr9:712274 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3020C>G (p.Ser1007Ter) |
single nucleotide variant |
not provided [RCV003580101] |
Chr9:732392 [GRCh38] Chr9:732392 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.35C>T (p.Ser12Leu) |
single nucleotide variant |
not provided [RCV003559720] |
Chr9:677007 [GRCh38] Chr9:677007 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3901G>A (p.Gly1301Ser) |
single nucleotide variant |
not provided [RCV003669815] |
Chr9:744494 [GRCh38] Chr9:744494 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3737G>A (p.Arg1246Gln) |
single nucleotide variant |
not provided [RCV003726698] |
Chr9:742245 [GRCh38] Chr9:742245 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.364C>A (p.Pro122Thr) |
single nucleotide variant |
not provided [RCV003850138] |
Chr9:711130 [GRCh38] Chr9:711130 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1462C>G (p.Leu488Val) |
single nucleotide variant |
not provided [RCV003549756] |
Chr9:712228 [GRCh38] Chr9:712228 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.103A>G (p.Thr35Ala) |
single nucleotide variant |
not provided [RCV003839187] |
Chr9:710869 [GRCh38] Chr9:710869 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.144T>G (p.Tyr48Ter) |
single nucleotide variant |
not provided [RCV003669464] |
Chr9:710910 [GRCh38] Chr9:710910 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1260G>A (p.Arg420=) |
single nucleotide variant |
not provided [RCV003672928] |
Chr9:712026 [GRCh38] Chr9:712026 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1195C>T (p.Arg399Trp) |
single nucleotide variant |
KANK1-related condition [RCV003893503]|not provided [RCV003849793] |
Chr9:711961 [GRCh38] Chr9:711961 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2220G>T (p.Thr740=) |
single nucleotide variant |
not provided [RCV003726767] |
Chr9:712986 [GRCh38] Chr9:712986 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2917A>T (p.Thr973Ser) |
single nucleotide variant |
not provided [RCV003835869] |
Chr9:731178 [GRCh38] Chr9:731178 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2702A>T (p.Asn901Ile) |
single nucleotide variant |
not provided [RCV003725703] |
Chr9:730054 [GRCh38] Chr9:730054 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3732C>A (p.His1244Gln) |
single nucleotide variant |
not provided [RCV003559363] |
Chr9:742240 [GRCh38] Chr9:742240 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3448G>A (p.Val1150Ile) |
single nucleotide variant |
not provided [RCV003816826] |
Chr9:738399 [GRCh38] Chr9:738399 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.191A>G (p.Gln64Arg) |
single nucleotide variant |
not provided [RCV003839215] |
Chr9:710957 [GRCh38] Chr9:710957 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3050C>G (p.Ser1017Cys) |
single nucleotide variant |
not provided [RCV003837862] |
Chr9:732422 [GRCh38] Chr9:732422 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2414G>A (p.Gly805Glu) |
single nucleotide variant |
not provided [RCV003667686] |
Chr9:713180 [GRCh38] Chr9:713180 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1485_1487del (p.Gly496del) |
deletion |
not provided [RCV003559611] |
Chr9:712251..712253 [GRCh38] Chr9:712251..712253 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1304A>G (p.Asn435Ser) |
single nucleotide variant |
not provided [RCV003671625] |
Chr9:712070 [GRCh38] Chr9:712070 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1625T>C (p.Val542Ala) |
single nucleotide variant |
not provided [RCV003666921] |
Chr9:712391 [GRCh38] Chr9:712391 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2079G>T (p.Glu693Asp) |
single nucleotide variant |
not provided [RCV003559822] |
Chr9:712845 [GRCh38] Chr9:712845 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.211G>A (p.Val71Met) |
single nucleotide variant |
not provided [RCV003548842] |
Chr9:710977 [GRCh38] Chr9:710977 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3553+11T>C |
single nucleotide variant |
not provided [RCV003671346] |
Chr9:738515 [GRCh38] Chr9:738515 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1119C>T (p.Asp373=) |
single nucleotide variant |
not provided [RCV003725567] |
Chr9:711885 [GRCh38] Chr9:711885 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3006-9_3006-5del |
deletion |
not provided [RCV003666732] |
Chr9:732369..732373 [GRCh38] Chr9:732369..732373 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3148C>T (p.His1050Tyr) |
single nucleotide variant |
not provided [RCV003665872] |
Chr9:732520 [GRCh38] Chr9:732520 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.297CAA[1] (p.Asn100del) |
microsatellite |
not provided [RCV003559767] |
Chr9:711062..711064 [GRCh38] Chr9:711062..711064 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2896+6T>G |
single nucleotide variant |
not provided [RCV003701824] |
Chr9:730254 [GRCh38] Chr9:730254 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2980C>T (p.Leu994Phe) |
single nucleotide variant |
not provided [RCV003717996] |
Chr9:731241 [GRCh38] Chr9:731241 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1250G>A (p.Arg417Lys) |
single nucleotide variant |
not provided [RCV003671682] |
Chr9:712016 [GRCh38] Chr9:712016 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.302A>G (p.Lys101Arg) |
single nucleotide variant |
not provided [RCV003667370] |
Chr9:711068 [GRCh38] Chr9:711068 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3690T>G (p.Ala1230=) |
single nucleotide variant |
not provided [RCV003716895] |
Chr9:740928 [GRCh38] Chr9:740928 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.607G>A (p.Gly203Arg) |
single nucleotide variant |
not provided [RCV003672373] |
Chr9:711373 [GRCh38] Chr9:711373 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2166C>T (p.Gly722=) |
single nucleotide variant |
not provided [RCV003837908] |
Chr9:712932 [GRCh38] Chr9:712932 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2376C>G (p.Ala792=) |
single nucleotide variant |
not provided [RCV003665054] |
Chr9:713142 [GRCh38] Chr9:713142 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2406C>T (p.Asp802=) |
single nucleotide variant |
not provided [RCV003836403] |
Chr9:713172 [GRCh38] Chr9:713172 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2240G>A (p.Gly747Glu) |
single nucleotide variant |
not provided [RCV003668913] |
Chr9:713006 [GRCh38] Chr9:713006 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3949G>T (p.Ala1317Ser) |
single nucleotide variant |
not provided [RCV003677095] |
Chr9:744542 [GRCh38] Chr9:744542 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3244_3245del (p.Arg1082fs) |
microsatellite |
not provided [RCV003846018] |
Chr9:732610..732611 [GRCh38] Chr9:732610..732611 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1558G>A (p.Val520Met) |
single nucleotide variant |
not provided [RCV003819748] |
Chr9:712324 [GRCh38] Chr9:712324 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3508G>T (p.Val1170Leu) |
single nucleotide variant |
not provided [RCV003705384] |
Chr9:738459 [GRCh38] Chr9:738459 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1699A>C (p.Asn567His) |
single nucleotide variant |
not provided [RCV003705630] |
Chr9:712465 [GRCh38] Chr9:712465 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.685G>A (p.Ala229Thr) |
single nucleotide variant |
not provided [RCV003731196] |
Chr9:711451 [GRCh38] Chr9:711451 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3525C>A (p.Phe1175Leu) |
single nucleotide variant |
not provided [RCV003844076] |
Chr9:738476 [GRCh38] Chr9:738476 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2485C>T (p.Arg829Cys) |
single nucleotide variant |
not provided [RCV003705605] |
Chr9:713251 [GRCh38] Chr9:713251 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.745T>C (p.Ser249Pro) |
single nucleotide variant |
not provided [RCV003843545] |
Chr9:711511 [GRCh38] Chr9:711511 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3096T>C (p.Leu1032=) |
single nucleotide variant |
not provided [RCV003854217] |
Chr9:732468 [GRCh38] Chr9:732468 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2640A>G (p.Ala880=) |
single nucleotide variant |
not provided [RCV003705869] |
Chr9:713406 [GRCh38] Chr9:713406 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1325A>G (p.Glu442Gly) |
single nucleotide variant |
not provided [RCV003709880] |
Chr9:712091 [GRCh38] Chr9:712091 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3398C>T (p.Pro1133Leu) |
single nucleotide variant |
not provided [RCV003728246] |
Chr9:738349 [GRCh38] Chr9:738349 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3161A>C (p.Asn1054Thr) |
single nucleotide variant |
not provided [RCV003819403] |
Chr9:732533 [GRCh38] Chr9:732533 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.551T>C (p.Leu184Pro) |
single nucleotide variant |
not provided [RCV003710064] |
Chr9:711317 [GRCh38] Chr9:711317 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.37+9G>C |
single nucleotide variant |
not provided [RCV003683020] |
Chr9:677018 [GRCh38] Chr9:677018 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.939G>C (p.Gln313His) |
single nucleotide variant |
not provided [RCV003683022] |
Chr9:711705 [GRCh38] Chr9:711705 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3771G>C (p.Gly1257=) |
single nucleotide variant |
not provided [RCV003820671] |
Chr9:742279 [GRCh38] Chr9:742279 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1842A>C (p.Thr614=) |
single nucleotide variant |
not provided [RCV003678516] |
Chr9:712608 [GRCh38] Chr9:712608 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1317C>T (p.Ser439=) |
single nucleotide variant |
not provided [RCV003867481] |
Chr9:712083 [GRCh38] Chr9:712083 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.623C>G (p.Ala208Gly) |
single nucleotide variant |
not provided [RCV003683705] |
Chr9:711389 [GRCh38] Chr9:711389 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.638A>G (p.Gln213Arg) |
single nucleotide variant |
KANK1-related condition [RCV003919277]|not provided [RCV003554223] |
Chr9:711404 [GRCh38] Chr9:711404 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1535T>C (p.Phe512Ser) |
single nucleotide variant |
not provided [RCV003722710] |
Chr9:712301 [GRCh38] Chr9:712301 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.470C>G (p.Thr157Arg) |
single nucleotide variant |
not provided [RCV003554316] |
Chr9:711236 [GRCh38] Chr9:711236 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3649G>A (p.Val1217Met) |
single nucleotide variant |
not provided [RCV003845466] |
Chr9:740887 [GRCh38] Chr9:740887 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3006-13A>C |
single nucleotide variant |
not provided [RCV003843889] |
Chr9:732365 [GRCh38] Chr9:732365 [GRCh37] Chr9:9p24.3 |
likely benign |
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 |
copy number loss |
not specified [RCV003986799] |
Chr9:203861..19302836 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
NM_015158.5(KANK1):c.14C>G (p.Thr5Arg) |
single nucleotide variant |
not provided [RCV003872080] |
Chr9:676986 [GRCh38] Chr9:676986 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1413C>T (p.Arg471=) |
single nucleotide variant |
not provided [RCV003675353] |
Chr9:712179 [GRCh38] Chr9:712179 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1723G>A (p.Val575Met) |
single nucleotide variant |
not provided [RCV003860610] |
Chr9:712489 [GRCh38] Chr9:712489 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1739G>A (p.Arg580Gln) |
single nucleotide variant |
not provided [RCV003553100] |
Chr9:712505 [GRCh38] Chr9:712505 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 |
copy number loss |
not specified [RCV003986809] |
Chr9:203861..15508556 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
NM_015158.5(KANK1):c.1447C>T (p.Arg483Trp) |
single nucleotide variant |
not provided [RCV003678161] |
Chr9:712213 [GRCh38] Chr9:712213 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2713T>C (p.Tyr905His) |
single nucleotide variant |
not provided [RCV003718783] |
Chr9:730065 [GRCh38] Chr9:730065 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1205C>T (p.Ala402Val) |
single nucleotide variant |
not provided [RCV003685585] |
Chr9:711971 [GRCh38] Chr9:711971 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.38-16T>G |
single nucleotide variant |
not provided [RCV003719009] |
Chr9:710788 [GRCh38] Chr9:710788 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.140A>G (p.Lys47Arg) |
single nucleotide variant |
not provided [RCV003868552] |
Chr9:710906 [GRCh38] Chr9:710906 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3616G>A (p.Ala1206Thr) |
single nucleotide variant |
not provided [RCV003824320] |
Chr9:740854 [GRCh38] Chr9:740854 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3697-10C>A |
single nucleotide variant |
not provided [RCV003719937] |
Chr9:742195 [GRCh38] Chr9:742195 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3932C>T (p.Ala1311Val) |
single nucleotide variant |
not provided [RCV003674506] |
Chr9:744525 [GRCh38] Chr9:744525 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.506G>C (p.Arg169Thr) |
single nucleotide variant |
not provided [RCV003820867] |
Chr9:711272 [GRCh38] Chr9:711272 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 |
copy number loss |
not specified [RCV003986818] |
Chr9:203861..9128400 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
NM_015158.5(KANK1):c.2236T>G (p.Ser746Ala) |
single nucleotide variant |
not provided [RCV003721415] |
Chr9:713002 [GRCh38] Chr9:713002 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.984C>T (p.Asn328=) |
single nucleotide variant |
not provided [RCV003720584] |
Chr9:711750 [GRCh38] Chr9:711750 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.566G>A (p.Gly189Asp) |
single nucleotide variant |
not provided [RCV003737819] |
Chr9:711332 [GRCh38] Chr9:711332 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3246-13T>A |
single nucleotide variant |
not provided [RCV003542005] |
Chr9:734735 [GRCh38] Chr9:734735 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.216A>G (p.Pro72=) |
single nucleotide variant |
not provided [RCV003677781] |
Chr9:710982 [GRCh38] Chr9:710982 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3681T>C (p.Asn1227=) |
single nucleotide variant |
not provided [RCV003708311] |
Chr9:740919 [GRCh38] Chr9:740919 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2199G>A (p.Thr733=) |
single nucleotide variant |
not provided [RCV003848810] |
Chr9:712965 [GRCh38] Chr9:712965 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3631G>A (p.Glu1211Lys) |
single nucleotide variant |
not provided [RCV003848812] |
Chr9:740869 [GRCh38] Chr9:740869 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3548A>T (p.Asp1183Val) |
single nucleotide variant |
not provided [RCV003679971] |
Chr9:738499 [GRCh38] Chr9:738499 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1210G>T (p.Gly404Cys) |
single nucleotide variant |
not provided [RCV003682735] |
Chr9:711976 [GRCh38] Chr9:711976 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2547A>G (p.Ala849=) |
single nucleotide variant |
not provided [RCV003865848] |
Chr9:713313 [GRCh38] Chr9:713313 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1851G>A (p.Lys617=) |
single nucleotide variant |
not provided [RCV003564584] |
Chr9:712617 [GRCh38] Chr9:712617 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1353T>C (p.Ala451=) |
single nucleotide variant |
not provided [RCV003726955] |
Chr9:712119 [GRCh38] Chr9:712119 [GRCh37] Chr9:9p24.3 |
benign |
NM_015158.5(KANK1):c.2086A>C (p.Thr696Pro) |
single nucleotide variant |
not provided [RCV003564585] |
Chr9:712852 [GRCh38] Chr9:712852 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.758C>G (p.Thr253Ser) |
single nucleotide variant |
not provided [RCV003729601] |
Chr9:711524 [GRCh38] Chr9:711524 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.985G>A (p.Ala329Thr) |
single nucleotide variant |
not provided [RCV003732379] |
Chr9:711751 [GRCh38] Chr9:711751 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1277C>G (p.Ala426Gly) |
single nucleotide variant |
not provided [RCV003678152] |
Chr9:712043 [GRCh38] Chr9:712043 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3333+17A>G |
single nucleotide variant |
not provided [RCV003866314] |
Chr9:734852 [GRCh38] Chr9:734852 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.2322C>T (p.Leu774=) |
single nucleotide variant |
KANK1-related condition [RCV003899162] |
Chr9:713088 [GRCh38] Chr9:713088 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1794C>T (p.Ser598=) |
single nucleotide variant |
KANK1-related condition [RCV003977192] |
Chr9:712560 [GRCh38] Chr9:712560 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.183G>A (p.Leu61=) |
single nucleotide variant |
KANK1-related condition [RCV003961474] |
Chr9:710949 [GRCh38] Chr9:710949 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3507C>T (p.Ser1169=) |
single nucleotide variant |
KANK1-related condition [RCV003961545] |
Chr9:738458 [GRCh38] Chr9:738458 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.1915G>A (p.Val639Ile) |
single nucleotide variant |
KANK1-related condition [RCV003951731] |
Chr9:712681 [GRCh38] Chr9:712681 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.*8C>G |
single nucleotide variant |
KANK1-related condition [RCV003962251] |
Chr9:745243 [GRCh38] Chr9:745243 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.819C>T (p.Arg273=) |
single nucleotide variant |
KANK1-related condition [RCV003951374] |
Chr9:711585 [GRCh38] Chr9:711585 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3567G>C (p.Val1189=) |
single nucleotide variant |
KANK1-related condition [RCV003927091] |
Chr9:740805 [GRCh38] Chr9:740805 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3133G>A (p.Gly1045Arg) |
single nucleotide variant |
KANK1-related condition [RCV003959062] |
Chr9:732505 [GRCh38] Chr9:732505 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1576A>T (p.Met526Leu) |
single nucleotide variant |
KANK1-related condition [RCV003899258] |
Chr9:712342 [GRCh38] Chr9:712342 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3707C>T (p.Thr1236Met) |
single nucleotide variant |
KANK1-related condition [RCV003897048] |
Chr9:742215 [GRCh38] Chr9:742215 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.1561C>A (p.Gln521Lys) |
single nucleotide variant |
KANK1-related condition [RCV003896996] |
Chr9:712327 [GRCh38] Chr9:712327 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3172T>C (p.Leu1058=) |
single nucleotide variant |
not provided [RCV002639579] |
Chr9:732544 [GRCh38] Chr9:732544 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.3477C>G (p.Asp1159Glu) |
single nucleotide variant |
not provided [RCV002705825] |
Chr9:738428 [GRCh38] Chr9:738428 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2884G>A (p.Ala962Thr) |
single nucleotide variant |
not provided [RCV002638960] |
Chr9:730236 [GRCh38] Chr9:730236 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2817C>T (p.Ser939=) |
single nucleotide variant |
not provided [RCV002933668] |
Chr9:730169 [GRCh38] Chr9:730169 [GRCh37] Chr9:9p24.3 |
likely benign |
NM_015158.5(KANK1):c.452A>C (p.Asn151Thr) |
single nucleotide variant |
not provided [RCV002792073] |
Chr9:711218 [GRCh38] Chr9:711218 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.2074A>C (p.Ile692Leu) |
single nucleotide variant |
not provided [RCV002589618] |
Chr9:712840 [GRCh38] Chr9:712840 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.705G>A (p.Met235Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003177949] |
Chr9:711471 [GRCh38] Chr9:711471 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.4040A>T (p.His1347Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003212695] |
Chr9:745216 [GRCh38] Chr9:745216 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3333+1G>A |
single nucleotide variant |
Cerebral palsy, spastic quadriplegic, 2 [RCV003340797] |
Chr9:734836 [GRCh38] Chr9:734836 [GRCh37] Chr9:9p24.3 |
uncertain significance |
NM_015158.5(KANK1):c.3058G>A (p.Glu1020Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003358567]|not provided [RCV003777515] |
Chr9:732430 [GRCh38] Chr9:732430 [GRCh37] Chr9:9p24.3 |
uncertain significance |
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 |
copy number loss |
not specified [RCV003986852] |
Chr9:203862..8548307 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
NM_015158.5(KANK1):c.2724G>C (p.Lys908Asn) |
single nucleotide variant |
KANK1-related condition [RCV003982107] |
Chr9:730076 [GRCh38] Chr9:730076 [GRCh37] Chr9:9p24.3 |
uncertain significance |