GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 |
copy number gain |
See cases [RCV000050989] |
Chr18:50068129..80252149 [GRCh38] Chr18:47594499..78010032 [GRCh37] Chr18:45848497..76111023 [NCBI36] Chr18:18q21.1-23 |
pathogenic |
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 |
copy number loss |
See cases [RCV000051032] |
Chr18:56618038..80252149 [GRCh38] Chr18:54285269..78010032 [GRCh37] Chr18:52436267..76111023 [NCBI36] Chr18:18q21.31-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000051048] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 |
copy number gain |
See cases [RCV000052543] |
Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 |
copy number gain |
See cases [RCV000052549] |
Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 |
copy number gain |
See cases [RCV000052501] |
Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 |
copy number gain |
See cases [RCV000052507] |
Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] |
Chr18:29249202..65448117 [GRCh38] Chr18:26829167..63115353 [GRCh37] Chr18:25083165..61266333 [NCBI36] Chr18:18q12.1-22.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 |
copy number gain |
See cases [RCV000052514] |
Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q21.31-21.32(chr18:58251999-58789954)x3 |
copy number gain |
See cases [RCV000054085] |
Chr18:58251999..58789954 [GRCh38] Chr18:55919231..56457186 [GRCh37] Chr18:54070211..54608166 [NCBI36] Chr18:18q21.31-21.32 |
uncertain significance |
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] |
Chr18:53637007..80252149 [GRCh38] Chr18:51163377..78010032 [GRCh37] Chr18:49417375..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 |
copy number loss |
See cases [RCV000053873] |
Chr18:56353040..80209986 [GRCh38] Chr18:54020271..77967869 [GRCh37] Chr18:52171269..76068860 [NCBI36] Chr18:18q21.31-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] |
Chr18:51605752..80252149 [GRCh38] Chr18:49132122..78010032 [GRCh37] Chr18:47386120..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 |
copy number loss |
See cases [RCV000053836] |
Chr18:52156899..65408762 [GRCh38] Chr18:49683269..63075998 [GRCh37] Chr18:47937267..61226978 [NCBI36] Chr18:18q21.2-22.1 |
pathogenic |
NM_052947.4(ALPK2):c.2520G>A (p.Thr840=) |
single nucleotide variant |
not specified [RCV004062084] |
Chr18:58537667 [GRCh38] Chr18:56204899 [GRCh37] Chr18:54355879 [NCBI36] Chr18:18q21.31 |
likely benign|not provided |
NM_052947.3(ALPK2):c.968C>T (p.Ser323Leu) |
single nucleotide variant |
Malignant melanoma [RCV000071861] |
Chr18:58579808 [GRCh38] Chr18:56247040 [GRCh37] Chr18:54398020 [NCBI36] Chr18:18q21.31 |
not provided |
NM_052947.3(ALPK2):c.195G>A (p.Glu65=) |
single nucleotide variant |
Malignant melanoma [RCV000071862] |
Chr18:58607354 [GRCh38] Chr18:56274586 [GRCh37] Chr18:54425566 [NCBI36] Chr18:18q21.32 |
not provided |
NM_052947.4(ALPK2):c.2176G>A (p.Asp726Asn) |
single nucleotide variant |
not specified [RCV004061130] |
Chr18:58538011 [GRCh38] Chr18:56205243 [GRCh37] Chr18:54356223 [NCBI36] Chr18:18q21.31 |
uncertain significance|not provided |
NM_052947.4(ALPK2):c.2142C>T (p.Thr714=) |
single nucleotide variant |
not specified [RCV004520298] |
Chr18:58538045 [GRCh38] Chr18:56205277 [GRCh37] Chr18:54356257 [NCBI36] Chr18:18q21.31 |
likely benign|not provided |
NM_052947.3(ALPK2):c.1975G>A (p.Glu659Lys) |
single nucleotide variant |
Malignant melanoma [RCV000063396] |
Chr18:58538212 [GRCh38] Chr18:56205444 [GRCh37] Chr18:54356424 [NCBI36] Chr18:18q21.31 |
not provided |
GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966) |
copy number loss |
Cholestasis [RCV003236725] |
Chr18:55020078..56892966 [GRCh37] Chr18:18q21.31-21.32 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 |
copy number gain |
See cases [RCV000134110] |
Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 |
copy number loss |
See cases [RCV000135413] |
Chr18:51190429..80252149 [GRCh38] Chr18:48716799..78010032 [GRCh37] Chr18:46970797..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 |
copy number loss |
See cases [RCV000136501] |
Chr18:54857756..60590631 [GRCh38] Chr18:52524987..58257864 [GRCh37] Chr18:50675985..56408844 [NCBI36] Chr18:18q21.2-21.32 |
pathogenic |
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 |
copy number gain |
See cases [RCV000136910] |
Chr18:38794728..65632804 [GRCh38] Chr18:36374692..63300040 [GRCh37] Chr18:34628690..61451020 [NCBI36] Chr18:18q12.2-22.1 |
pathogenic |
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 |
copy number gain |
See cases [RCV000136890] |
Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 |
copy number loss |
See cases [RCV000136674] |
Chr18:53865057..80252149 [GRCh38] Chr18:51391427..78010032 [GRCh37] Chr18:49645425..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 |
copy number gain |
See cases [RCV000137342] |
Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 |
copy number loss |
See cases [RCV000137375] |
Chr18:55179364..80254946 [GRCh38] Chr18:52846595..78012829 [GRCh37] Chr18:50997593..76113817 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 |
copy number gain |
See cases [RCV000138034] |
Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 |
copy number gain |
See cases [RCV000138656] |
Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 |
copy number gain |
See cases [RCV000139397] |
Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 |
copy number loss |
See cases [RCV000139134] |
Chr18:52421052..80254946 [GRCh38] Chr18:49947422..78012829 [GRCh37] Chr18:48201420..76113817 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 |
copy number gain |
See cases [RCV000139496] |
Chr18:53959828..80254936 [GRCh38] Chr18:51486198..78012819 [GRCh37] Chr18:49740196..76113807 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 |
copy number loss |
See cases [RCV000140925] |
Chr18:51167159..80256240 [GRCh38] Chr18:48693529..78014123 [GRCh37] Chr18:46947527..76115097 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 |
copy number gain |
See cases [RCV000142244] |
Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 |
copy number gain |
See cases [RCV000142227] |
Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 |
copy number gain |
See cases [RCV000143057] |
Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 |
copy number gain |
See cases [RCV000143218] |
Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000148072] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 |
copy number gain |
See cases [RCV000240130] |
Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 |
copy number gain |
See cases [RCV000240476] |
Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23 |
pathogenic |
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 |
copy number loss |
See cases [RCV000449209] |
Chr18:55793243..68705548 [GRCh37] Chr18:18q21.31-22.3 |
pathogenic |
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 |
copy number loss |
See cases [RCV000446087] |
Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 |
copy number gain |
See cases [RCV000446047] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 |
copy number gain |
See cases [RCV000445851] |
Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 |
copy number loss |
See cases [RCV000510720] |
Chr18:50224898..78014123 [GRCh37] Chr18:18q21.2-23 |
likely pathogenic |
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 |
copy number loss |
See cases [RCV000445943] |
Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 |
copy number loss |
See cases [RCV000447931] |
Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 |
copy number loss |
See cases [RCV000448656] |
Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 |
copy number gain |
See cases [RCV000512081] |
Chr18:33417216..78014123 [GRCh37] Chr18:18q12.2-23 |
pathogenic |
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 |
copy number loss |
See cases [RCV000512059] |
Chr18:54462182..78014123 [GRCh37] Chr18:18q21.31-23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 |
copy number gain |
See cases [RCV000510655] |
Chr18:47454437..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 |
copy number gain |
See cases [RCV000511394] |
Chr18:43776770..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 |
copy number gain |
See cases [RCV000511734] |
Chr18:18521285..64495798 [GRCh37] Chr18:18q11.1-22.1 |
pathogenic |
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 |
copy number gain |
See cases [RCV000512030] |
Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 |
copy number loss |
See cases [RCV000511759] |
Chr18:46177798..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 |
copy number gain |
See cases [RCV000511203] |
Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) |
copy number gain |
See cases [RCV000511189] |
Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_052947.4(ALPK2):c.5476A>G (p.Lys1826Glu) |
single nucleotide variant |
not specified [RCV004312135] |
Chr18:58529116 [GRCh38] Chr18:56196348 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5696T>C (p.Ile1899Thr) |
single nucleotide variant |
not specified [RCV004305624] |
Chr18:58517152 [GRCh38] Chr18:56184384 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2358C>T (p.Leu786=) |
single nucleotide variant |
not specified [RCV004329905] |
Chr18:58537829 [GRCh38] Chr18:56205061 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4119T>A (p.Ser1373Arg) |
single nucleotide variant |
not specified [RCV004329914] |
Chr18:58536068 [GRCh38] Chr18:56203300 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3960C>T (p.Thr1320=) |
single nucleotide variant |
not specified [RCV004329915] |
Chr18:58536227 [GRCh38] Chr18:56203459 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5399A>T (p.His1800Leu) |
single nucleotide variant |
not specified [RCV004328099] |
Chr18:58529193 [GRCh38] Chr18:56196425 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4286G>A (p.Gly1429Asp) |
single nucleotide variant |
not specified [RCV004328100] |
Chr18:58535901 [GRCh38] Chr18:56203133 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3008G>C (p.Arg1003Thr) |
single nucleotide variant |
not specified [RCV004328101] |
Chr18:58537179 [GRCh38] Chr18:56204411 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1077C>A (p.Ser359Arg) |
single nucleotide variant |
not specified [RCV004328102] |
Chr18:58579699 [GRCh38] Chr18:56246931 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1319C>A (p.Thr440Lys) |
single nucleotide variant |
not specified [RCV004328103] |
Chr18:58579457 [GRCh38] Chr18:56246689 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3304C>A (p.Gln1102Lys) |
single nucleotide variant |
not specified [RCV004328104] |
Chr18:58536883 [GRCh38] Chr18:56204115 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5305G>C (p.Glu1769Gln) |
single nucleotide variant |
not specified [RCV004328105] |
Chr18:58534882 [GRCh38] Chr18:56202114 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5455A>G (p.Ile1819Val) |
single nucleotide variant |
not specified [RCV004328106] |
Chr18:58529137 [GRCh38] Chr18:56196369 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3298C>G (p.Pro1100Ala) |
single nucleotide variant |
not specified [RCV004328107] |
Chr18:58536889 [GRCh38] Chr18:56204121 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1609G>T (p.Val537Leu) |
single nucleotide variant |
not specified [RCV004328108] |
Chr18:58579167 [GRCh38] Chr18:56246399 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5275C>A (p.Pro1759Thr) |
single nucleotide variant |
not specified [RCV004314820] |
Chr18:58534912 [GRCh38] Chr18:56202144 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6315C>G (p.Gly2105=) |
single nucleotide variant |
not specified [RCV004329892] |
Chr18:58482021 [GRCh38] Chr18:56149253 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1338G>A (p.Gln446=) |
single nucleotide variant |
not specified [RCV004329893] |
Chr18:58579438 [GRCh38] Chr18:56246670 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2141C>T (p.Thr714Ile) |
single nucleotide variant |
not specified [RCV004329894] |
Chr18:58538046 [GRCh38] Chr18:56205278 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4927C>G (p.Pro1643Ala) |
single nucleotide variant |
not specified [RCV004329895] |
Chr18:58535260 [GRCh38] Chr18:56202492 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2208C>A (p.Asp736Glu) |
single nucleotide variant |
not specified [RCV004329896] |
Chr18:58537979 [GRCh38] Chr18:56205211 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5595A>G (p.Gly1865=) |
single nucleotide variant |
not specified [RCV004329901] |
Chr18:58523969 [GRCh38] Chr18:56191201 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3865G>C (p.Ala1289Pro) |
single nucleotide variant |
not specified [RCV004329903] |
Chr18:58536322 [GRCh38] Chr18:56203554 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4424T>G (p.Met1475Arg) |
single nucleotide variant |
not specified [RCV004329904] |
Chr18:58535763 [GRCh38] Chr18:56202995 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.519C>T (p.Ser173=) |
single nucleotide variant |
not specified [RCV004329917] |
Chr18:58580257 [GRCh38] Chr18:56247489 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5032C>T (p.Leu1678=) |
single nucleotide variant |
not specified [RCV004329919] |
Chr18:58535155 [GRCh38] Chr18:56202387 [GRCh37] Chr18:18q21.31 |
likely benign |
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 |
copy number gain |
See cases [RCV000512425] |
Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23 |
pathogenic |
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 |
copy number loss |
not provided [RCV000684056] |
Chr18:55083032..72743857 [GRCh37] Chr18:18q21.31-22.3 |
pathogenic |
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 |
copy number loss |
not provided [RCV000684059] |
Chr18:55298900..78014123 [GRCh37] Chr18:18q21.31-23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 |
copy number loss |
not provided [RCV000684060] |
Chr18:46942427..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 |
copy number loss |
not provided [RCV000739822] |
Chr18:51036415..59275480 [GRCh37] Chr18:18q21.2-21.33 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 |
copy number loss |
not provided [RCV000739824] |
Chr18:52802515..78015180 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 |
copy number gain |
not provided [RCV000752245] |
Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 |
copy number gain |
not provided [RCV000752246] |
Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_052947.4(ALPK2):c.5737C>T (p.Arg1913Cys) |
single nucleotide variant |
ALPK2-related disorder [RCV003933308]|not provided [RCV000951148]|not specified [RCV004029817] |
Chr18:58517111 [GRCh38] Chr18:56184343 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.4575G>A (p.Glu1525=) |
single nucleotide variant |
not provided [RCV000970497]|not specified [RCV004029950] |
Chr18:58535612 [GRCh38] Chr18:56202844 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.6168A>G (p.Glu2056=) |
single nucleotide variant |
ALPK2-related disorder [RCV003943202]|not provided [RCV000970496]|not specified [RCV004029949] |
Chr18:58504010 [GRCh38] Chr18:56171242 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.489C>T (p.Ser163=) |
single nucleotide variant |
ALPK2-related disorder [RCV003930564]|not provided [RCV000882289]|not specified [RCV004028315] |
Chr18:58580287 [GRCh38] Chr18:56247519 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 |
copy number loss |
not provided [RCV001007016] |
Chr18:49460596..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.31-21.32(chr18:55991937-56852926)x1 |
copy number loss |
not provided [RCV000847603] |
Chr18:55991937..56852926 [GRCh37] Chr18:18q21.31-21.32 |
uncertain significance |
NC_000018.9:g.(?_55225777)_(56940458_?)dup |
duplication |
not provided [RCV000821281] |
Chr18:57558545..59273226 [GRCh38] Chr18:55225777..56940458 [GRCh37] Chr18:18q21.31-21.32 |
uncertain significance |
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 |
copy number gain |
not provided [RCV000847118] |
Chr18:45621155..61416536 [GRCh37] Chr18:18q21.1-21.33 |
pathogenic |
NM_052947.4(ALPK2):c.1366G>A (p.Glu456Lys) |
single nucleotide variant |
not specified [RCV004289052] |
Chr18:58579410 [GRCh38] Chr18:56246642 [GRCh37] Chr18:18q21.31 |
uncertain significance |
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 |
copy number loss |
not provided [RCV001007017] |
Chr18:55458425..78014123 [GRCh37] Chr18:18q21.31-23 |
pathogenic |
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 |
copy number gain |
not provided [RCV001537911] |
Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23 |
pathogenic |
NC_000018.9:g.(?_55225777)_(56940458_?)del |
deletion |
not provided [RCV001339457] |
Chr18:55225777..56940458 [GRCh37] Chr18:18q21.31-21.32 |
uncertain significance |
NC_000018.9:g.(?_55225777)_(56940458_?)dup |
duplication |
not provided [RCV001323676] |
Chr18:55225777..56940458 [GRCh37] Chr18:18q21.31-21.32 |
uncertain significance |
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) |
copy number gain |
Global developmental delay [RCV001352665] |
Chr18:51925586..78010032 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 |
copy number loss |
not provided [RCV001531449] |
Chr18:54285235..77960815 [GRCh37] Chr18:18q21.31-23 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) |
copy number loss |
not specified [RCV002052643] |
Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) |
copy number loss |
not specified [RCV002052639] |
Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) |
copy number loss |
not specified [RCV002052642] |
Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NC_000018.9:g.(?_55217944)_(58039582_?)del |
deletion |
not provided [RCV003120789] |
Chr18:55217944..58039582 [GRCh37] Chr18:18q21.31-21.32 |
pathogenic|uncertain significance |
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) |
copy number loss |
not specified [RCV002052641] |
Chr18:52675201..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) |
copy number loss |
not specified [RCV002052646] |
Chr18:53309113..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) |
copy number gain |
not specified [RCV002052616] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) |
copy number loss |
not specified [RCV002052636] |
Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
NC_000018.9:g.(?_55217944)_(58040587_?)dup |
duplication |
not provided [RCV001922994] |
Chr18:55217944..58040587 [GRCh37] Chr18:18q21.31-21.32 |
uncertain significance |
NC_000018.9:g.(?_55217944)_(58039582_?)dup |
duplication |
Combined immunodeficiency due to MALT1 deficiency [RCV003109569]|not provided [RCV003116545] |
Chr18:55217944..58039582 [GRCh37] Chr18:18q21.31-21.32 |
uncertain significance|no classifications from unflagged records |
NC_000018.9:g.(?_55217944)_(58040587_?)del |
deletion |
Isolated microphthalmia 3 [RCV003116662]|not provided [RCV003116663] |
Chr18:55217944..58040587 [GRCh37] Chr18:18q21.31-21.32 |
pathogenic|no classifications from unflagged records |
NM_052947.4(ALPK2):c.486C>G (p.Asp162Glu) |
single nucleotide variant |
not specified [RCV004329900] |
Chr18:58580290 [GRCh38] Chr18:56247522 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1098C>T (p.Phe366=) |
single nucleotide variant |
not specified [RCV004329906] |
Chr18:58579678 [GRCh38] Chr18:56246910 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1049G>C (p.Gly350Ala) |
single nucleotide variant |
not specified [RCV004329907] |
Chr18:58579727 [GRCh38] Chr18:56246959 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3892C>T (p.His1298Tyr) |
single nucleotide variant |
not specified [RCV004329908] |
Chr18:58536295 [GRCh38] Chr18:56203527 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3888G>A (p.Leu1296=) |
single nucleotide variant |
not specified [RCV004048800] |
Chr18:58536299 [GRCh38] Chr18:56203531 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3712A>G (p.Ile1238Val) |
single nucleotide variant |
not specified [RCV004049740] |
Chr18:58536475 [GRCh38] Chr18:56203707 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3716T>C (p.Ile1239Thr) |
single nucleotide variant |
not specified [RCV004049750] |
Chr18:58536471 [GRCh38] Chr18:56203703 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3407G>A (p.Gly1136Glu) |
single nucleotide variant |
not specified [RCV004599284] |
Chr18:58536780 [GRCh38] Chr18:56204012 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3898C>A (p.Pro1300Thr) |
single nucleotide variant |
not specified [RCV004050353] |
Chr18:58536289 [GRCh38] Chr18:56203521 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3752C>G (p.Pro1251Arg) |
single nucleotide variant |
not specified [RCV004048011] |
Chr18:58536435 [GRCh38] Chr18:56203667 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3753A>G (p.Pro1251=) |
single nucleotide variant |
not specified [RCV004048013] |
Chr18:58536434 [GRCh38] Chr18:56203666 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3754C>A (p.Arg1252=) |
single nucleotide variant |
not specified [RCV004048016] |
Chr18:58536433 [GRCh38] Chr18:56203665 [GRCh37] Chr18:18q21.31 |
likely benign |
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) |
copy number gain |
Trisomy 18 [RCV002280660] |
Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_052947.4(ALPK2):c.3390A>C (p.Gly1130=) |
single nucleotide variant |
not specified [RCV004047897] |
Chr18:58536797 [GRCh38] Chr18:56204029 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.282A>C (p.Gly94=) |
single nucleotide variant |
not specified [RCV004062350] |
Chr18:58580494 [GRCh38] Chr18:56247726 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3877A>T (p.Ile1293Leu) |
single nucleotide variant |
not specified [RCV004048783] |
Chr18:58536310 [GRCh38] Chr18:56203542 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3714T>G (p.Ile1238Met) |
single nucleotide variant |
not specified [RCV004049745] |
Chr18:58536473 [GRCh38] Chr18:56203705 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3715A>T (p.Ile1239Leu) |
single nucleotide variant |
not specified [RCV004049747] |
Chr18:58536472 [GRCh38] Chr18:56203704 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2848A>G (p.Asn950Asp) |
single nucleotide variant |
not specified [RCV004062407] |
Chr18:58537339 [GRCh38] Chr18:56204571 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2849A>G (p.Asn950Ser) |
single nucleotide variant |
not specified [RCV004062409] |
Chr18:58537338 [GRCh38] Chr18:56204570 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3725A>G (p.Glu1242Gly) |
single nucleotide variant |
not specified [RCV004049772] |
Chr18:58536462 [GRCh38] Chr18:56203694 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3726G>A (p.Glu1242=) |
single nucleotide variant |
not specified [RCV004049775] |
Chr18:58536461 [GRCh38] Chr18:56203693 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2850C>T (p.Asn950=) |
single nucleotide variant |
not specified [RCV004062412] |
Chr18:58537337 [GRCh38] Chr18:56204569 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3413A>C (p.Gln1138Pro) |
single nucleotide variant |
not specified [RCV004047962] |
Chr18:58536774 [GRCh38] Chr18:56204006 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2844T>C (p.Ser948=) |
single nucleotide variant |
not specified [RCV004062396] |
Chr18:58537343 [GRCh38] Chr18:56204575 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6219T>C (p.Ser2073=) |
single nucleotide variant |
not specified [RCV004053404] |
Chr18:58503959 [GRCh38] Chr18:56171191 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6220G>T (p.Gly2074Cys) |
single nucleotide variant |
not specified [RCV004053415] |
Chr18:58503958 [GRCh38] Chr18:56171190 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6222C>T (p.Gly2074=) |
single nucleotide variant |
not specified [RCV004053417] |
Chr18:58503956 [GRCh38] Chr18:56171188 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3627C>T (p.Ser1209=) |
single nucleotide variant |
not specified [RCV004049275] |
Chr18:58536560 [GRCh38] Chr18:56203792 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3745T>A (p.Trp1249Arg) |
single nucleotide variant |
not specified [RCV004049814] |
Chr18:58536442 [GRCh38] Chr18:56203674 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3631G>A (p.Val1211Ile) |
single nucleotide variant |
ALPK2-related disorder [RCV003961000]|not specified [RCV004049281] |
Chr18:58536556 [GRCh38] Chr18:56203788 [GRCh37] Chr18:18q21.31 |
benign|uncertain significance |
NM_052947.4(ALPK2):c.6248G>T (p.Gly2083Val) |
single nucleotide variant |
not specified [RCV004053440] |
Chr18:58498097 [GRCh38] Chr18:56165329 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3636A>C (p.Pro1212=) |
single nucleotide variant |
not specified [RCV004049285] |
Chr18:58536551 [GRCh38] Chr18:56203783 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3636A>T (p.Pro1212=) |
single nucleotide variant |
not specified [RCV004049287] |
Chr18:58536551 [GRCh38] Chr18:56203783 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3733G>T (p.Ala1245Ser) |
single nucleotide variant |
not specified [RCV004049790] |
Chr18:58536454 [GRCh38] Chr18:56203686 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3737C>A (p.Ser1246Tyr) |
single nucleotide variant |
not specified [RCV004049797] |
Chr18:58536450 [GRCh38] Chr18:56203682 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3738T>C (p.Ser1246=) |
single nucleotide variant |
not specified [RCV004049804] |
Chr18:58536449 [GRCh38] Chr18:56203681 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5410G>T (p.Val1804Leu) |
single nucleotide variant |
not specified [RCV004053040] |
Chr18:58529182 [GRCh38] Chr18:56196414 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2820T>C (p.Leu940=) |
single nucleotide variant |
not specified [RCV004062319] |
Chr18:58537367 [GRCh38] Chr18:56204599 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3387A>T (p.Arg1129Ser) |
single nucleotide variant |
not specified [RCV004047886] |
Chr18:58536800 [GRCh38] Chr18:56204032 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.339G>T (p.Leu113Phe) |
single nucleotide variant |
not specified [RCV004047920] |
Chr18:58580437 [GRCh38] Chr18:56247669 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.33G>A (p.Pro11=) |
single nucleotide variant |
not specified [RCV004047928] |
Chr18:58611765 [GRCh38] Chr18:56278997 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.2823T>C (p.Asp941=) |
single nucleotide variant |
not specified [RCV004062329] |
Chr18:58537364 [GRCh38] Chr18:56204596 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3393T>C (p.Ser1131=) |
single nucleotide variant |
not specified [RCV004047909] |
Chr18:58536794 [GRCh38] Chr18:56204026 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1117G>A (p.Gly373Arg) |
single nucleotide variant |
not specified [RCV004062362] |
Chr18:58579659 [GRCh38] Chr18:56246891 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3661G>A (p.Glu1221Lys) |
single nucleotide variant |
not specified [RCV004049598] |
Chr18:58536526 [GRCh38] Chr18:56203758 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3003G>T (p.Ala1001=) |
single nucleotide variant |
not specified [RCV004065488] |
Chr18:58537184 [GRCh38] Chr18:56204416 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3663G>A (p.Glu1221=) |
single nucleotide variant |
not specified [RCV004049601] |
Chr18:58536524 [GRCh38] Chr18:56203756 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3664T>C (p.Ser1222Pro) |
single nucleotide variant |
not specified [RCV004049603] |
Chr18:58536523 [GRCh38] Chr18:56203755 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.808A>G (p.Ile270Val) |
single nucleotide variant |
not specified [RCV004055432] |
Chr18:58579968 [GRCh38] Chr18:56247200 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.664C>G (p.His222Asp) |
single nucleotide variant |
not specified [RCV004054510] |
Chr18:58580112 [GRCh38] Chr18:56247344 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3006C>A (p.Thr1002=) |
single nucleotide variant |
not specified [RCV004065493] |
Chr18:58537181 [GRCh38] Chr18:56204413 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5424C>T (p.Cys1808=) |
single nucleotide variant |
not specified [RCV004053056] |
Chr18:58529168 [GRCh38] Chr18:56196400 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3704A>T (p.Lys1235Met) |
single nucleotide variant |
not specified [RCV004049714] |
Chr18:58536483 [GRCh38] Chr18:56203715 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3667A>G (p.Lys1223Glu) |
single nucleotide variant |
not specified [RCV004049610] |
Chr18:58536520 [GRCh38] Chr18:56203752 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5428T>A (p.Phe1810Ile) |
single nucleotide variant |
not specified [RCV004053061] |
Chr18:58529164 [GRCh38] Chr18:56196396 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.370G>A (p.Gly124Ser) |
single nucleotide variant |
not specified [RCV004049733] |
Chr18:58580406 [GRCh38] Chr18:56247638 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2838T>A (p.Leu946=) |
single nucleotide variant |
ALPK2-related disorder [RCV003903705]|not specified [RCV004062378] |
Chr18:58537349 [GRCh38] Chr18:56204581 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.283A>G (p.Met95Val) |
single nucleotide variant |
not specified [RCV004062380] |
Chr18:58580493 [GRCh38] Chr18:56247725 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3715A>G (p.Ile1239Val) |
single nucleotide variant |
not specified [RCV004049746] |
Chr18:58536472 [GRCh38] Chr18:56203704 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3408G>A (p.Gly1136=) |
single nucleotide variant |
not specified [RCV004047952] |
Chr18:58536779 [GRCh38] Chr18:56204011 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6197A>G (p.His2066Arg) |
single nucleotide variant |
not specified [RCV004053386] |
Chr18:58503981 [GRCh38] Chr18:56171213 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3720T>G (p.Thr1240=) |
single nucleotide variant |
not specified [RCV004049765] |
Chr18:58536467 [GRCh38] Chr18:56203699 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2853T>C (p.Asn951=) |
single nucleotide variant |
not specified [RCV004062427] |
Chr18:58537334 [GRCh38] Chr18:56204566 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3736T>C (p.Ser1246Pro) |
single nucleotide variant |
not specified [RCV004049796] |
Chr18:58536451 [GRCh38] Chr18:56203683 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2855C>G (p.Pro952Arg) |
single nucleotide variant |
not specified [RCV004062429] |
Chr18:58537332 [GRCh38] Chr18:56204564 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6237G>A (p.Thr2079=) |
single nucleotide variant |
not specified [RCV004053430] |
Chr18:58503941 [GRCh38] Chr18:56171173 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6243G>A (p.Met2081Ile) |
single nucleotide variant |
not specified [RCV004053438] |
Chr18:58503935 [GRCh38] Chr18:56171167 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2860G>A (p.Val954Met) |
single nucleotide variant |
not specified [RCV004062449] |
Chr18:58537327 [GRCh38] Chr18:56204559 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3636A>G (p.Pro1212=) |
single nucleotide variant |
not specified [RCV004049286] |
Chr18:58536551 [GRCh38] Chr18:56203783 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.337T>C (p.Leu113=) |
single nucleotide variant |
not specified [RCV004047871] |
Chr18:58580439 [GRCh38] Chr18:56247671 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2552A>G (p.Asp851Gly) |
single nucleotide variant |
not specified [RCV004062193] |
Chr18:58537635 [GRCh38] Chr18:56204867 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6252A>G (p.Val2084=) |
single nucleotide variant |
not specified [RCV004053448] |
Chr18:58498093 [GRCh38] Chr18:56165325 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2824G>A (p.Glu942Lys) |
single nucleotide variant |
not specified [RCV004062332] |
Chr18:58537363 [GRCh38] Chr18:56204595 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.662G>A (p.Ser221Asn) |
single nucleotide variant |
not specified [RCV004054480] |
Chr18:58580114 [GRCh38] Chr18:56247346 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3000A>G (p.Gln1000=) |
single nucleotide variant |
not specified [RCV004065481] |
Chr18:58537187 [GRCh38] Chr18:56204419 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.744C>T (p.Asn248=) |
single nucleotide variant |
not specified [RCV004056288] |
Chr18:58580032 [GRCh38] Chr18:56247264 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3002C>T (p.Ala1001Val) |
single nucleotide variant |
not specified [RCV004065485] |
Chr18:58537185 [GRCh38] Chr18:56204417 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.665A>G (p.His222Arg) |
single nucleotide variant |
not specified [RCV004054522] |
Chr18:58580111 [GRCh38] Chr18:56247343 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2040G>A (p.Glu680=) |
single nucleotide variant |
not specified [RCV004059600] |
Chr18:58538147 [GRCh38] Chr18:56205379 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2040G>C (p.Glu680Asp) |
single nucleotide variant |
not specified [RCV004059602] |
Chr18:58538147 [GRCh38] Chr18:56205379 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.710C>T (p.Ser237Phe) |
single nucleotide variant |
not specified [RCV004055265] |
Chr18:58580066 [GRCh38] Chr18:56247298 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1320G>A (p.Thr440=) |
single nucleotide variant |
not specified [RCV004058369] |
Chr18:58579456 [GRCh38] Chr18:56246688 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1320G>C (p.Thr440=) |
single nucleotide variant |
not specified [RCV004058371] |
Chr18:58579456 [GRCh38] Chr18:56246688 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.632T>C (p.Ile211Thr) |
single nucleotide variant |
not specified [RCV004053847] |
Chr18:58580144 [GRCh38] Chr18:56247376 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1257G>A (p.Lys419=) |
single nucleotide variant |
not specified [RCV004055479] |
Chr18:58579519 [GRCh38] Chr18:56246751 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6336T>C (p.Ile2112=) |
single nucleotide variant |
not specified [RCV004053854] |
Chr18:58482000 [GRCh38] Chr18:56149232 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.955A>C (p.Thr319Pro) |
single nucleotide variant |
not specified [RCV004056911] |
Chr18:58579821 [GRCh38] Chr18:56247053 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.80C>T (p.Ser27Leu) |
single nucleotide variant |
not specified [RCV004055448] |
Chr18:58611718 [GRCh38] Chr18:56278950 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.956C>G (p.Thr319Ser) |
single nucleotide variant |
not specified [RCV004056920] |
Chr18:58579820 [GRCh38] Chr18:56247052 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5437A>T (p.Ile1813Phe) |
single nucleotide variant |
not specified [RCV004053071] |
Chr18:58529155 [GRCh38] Chr18:56196387 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2042C>T (p.Ser681Phe) |
single nucleotide variant |
not specified [RCV004059611] |
Chr18:58538145 [GRCh38] Chr18:56205377 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2043C>A (p.Ser681=) |
single nucleotide variant |
not specified [RCV004059614] |
Chr18:58538144 [GRCh38] Chr18:56205376 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2043C>T (p.Ser681=) |
single nucleotide variant |
not specified [RCV004059616] |
Chr18:58538144 [GRCh38] Chr18:56205376 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2686T>C (p.Leu896=) |
single nucleotide variant |
not specified [RCV004063643] |
Chr18:58537501 [GRCh38] Chr18:56204733 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1137T>G (p.Ser379Arg) |
single nucleotide variant |
not specified [RCV004049551] |
Chr18:58579639 [GRCh38] Chr18:56246871 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2874A>C (p.Glu958Asp) |
single nucleotide variant |
not specified [RCV004062485] |
Chr18:58537313 [GRCh38] Chr18:56204545 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3362G>A (p.Ser1121Asn) |
single nucleotide variant |
not specified [RCV004047833] |
Chr18:58536825 [GRCh38] Chr18:56204057 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.813C>T (p.Ser271=) |
single nucleotide variant |
not specified [RCV004055488] |
Chr18:58579963 [GRCh38] Chr18:56247195 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3363C>A (p.Ser1121Arg) |
single nucleotide variant |
not specified [RCV004047834] |
Chr18:58536824 [GRCh38] Chr18:56204056 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.98G>C (p.Cys33Ser) |
single nucleotide variant |
not specified [RCV004057691] |
Chr18:58611700 [GRCh38] Chr18:56278932 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.3575G>C (p.Arg1192Thr) |
single nucleotide variant |
not specified [RCV004049158] |
Chr18:58536612 [GRCh38] Chr18:56203844 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1957C>T (p.Pro653Ser) |
single nucleotide variant |
not specified [RCV004061517] |
Chr18:58578819 [GRCh38] Chr18:56246051 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5544C>A (p.Ala1848=) |
single nucleotide variant |
not specified [RCV004053215] |
Chr18:58524020 [GRCh38] Chr18:56191252 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3705G>A (p.Lys1235=) |
single nucleotide variant |
not specified [RCV004049717] |
Chr18:58536482 [GRCh38] Chr18:56203714 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2045C>T (p.Pro682Leu) |
single nucleotide variant |
not specified [RCV004059620] |
Chr18:58538142 [GRCh38] Chr18:56205374 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1323T>G (p.Ser441=) |
single nucleotide variant |
not specified [RCV004058383] |
Chr18:58579453 [GRCh38] Chr18:56246685 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2692A>G (p.Ile898Val) |
single nucleotide variant |
not specified [RCV004063661] |
Chr18:58537495 [GRCh38] Chr18:56204727 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.132T>G (p.Thr44=) |
single nucleotide variant |
not specified [RCV004058427] |
Chr18:58607417 [GRCh38] Chr18:56274649 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.5064G>A (p.Glu1688=) |
single nucleotide variant |
not specified [RCV004050967] |
Chr18:58535123 [GRCh38] Chr18:56202355 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6335T>C (p.Ile2112Thr) |
single nucleotide variant |
not specified [RCV004053852] |
Chr18:58482001 [GRCh38] Chr18:56149233 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3402G>A (p.Lys1134=) |
single nucleotide variant |
not specified [RCV004047939] |
Chr18:58536785 [GRCh38] Chr18:56204017 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3886T>C (p.Leu1296=) |
single nucleotide variant |
not specified [RCV004048798] |
Chr18:58536301 [GRCh38] Chr18:56203533 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3404A>G (p.Gln1135Arg) |
single nucleotide variant |
not specified [RCV004047944] |
Chr18:58536783 [GRCh38] Chr18:56204015 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.371G>T (p.Gly124Val) |
single nucleotide variant |
not specified [RCV004049759] |
Chr18:58580405 [GRCh38] Chr18:56247637 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3613A>G (p.Ser1205Gly) |
single nucleotide variant |
not specified [RCV004049253] |
Chr18:58536574 [GRCh38] Chr18:56203806 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.666T>C (p.His222=) |
single nucleotide variant |
not specified [RCV004054536] |
Chr18:58580110 [GRCh38] Chr18:56247342 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3681T>C (p.Pro1227=) |
single nucleotide variant |
not specified [RCV004049658] |
Chr18:58536506 [GRCh38] Chr18:56203738 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.713T>C (p.Met238Thr) |
single nucleotide variant |
not specified [RCV004055293] |
Chr18:58580063 [GRCh38] Chr18:56247295 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.272A>T (p.Asn91Ile) |
single nucleotide variant |
not specified [RCV004064028] |
Chr18:58580504 [GRCh38] Chr18:56247736 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2049C>A (p.Phe683Leu) |
single nucleotide variant |
not specified [RCV004059631] |
Chr18:58538138 [GRCh38] Chr18:56205370 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2624C>T (p.Thr875Met) |
single nucleotide variant |
not specified [RCV004062976] |
Chr18:58537563 [GRCh38] Chr18:56204795 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2683A>G (p.Thr895Ala) |
single nucleotide variant |
not specified [RCV004063631] |
Chr18:58537504 [GRCh38] Chr18:56204736 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2717C>T (p.Ala906Val) |
single nucleotide variant |
not specified [RCV004063739] |
Chr18:58537470 [GRCh38] Chr18:56204702 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6270C>T (p.Asp2090=) |
single nucleotide variant |
not specified [RCV004053471] |
Chr18:58498075 [GRCh38] Chr18:56165307 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5549C>T (p.Pro1850Leu) |
single nucleotide variant |
ALPK2-related disorder [RCV003943370]|not specified [RCV004053219] |
Chr18:58524015 [GRCh38] Chr18:56191247 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1203T>C (p.Cys401=) |
single nucleotide variant |
not specified [RCV004053221] |
Chr18:58579573 [GRCh38] Chr18:56246805 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1148G>A (p.Cys383Tyr) |
single nucleotide variant |
not specified [RCV004049207] |
Chr18:58579628 [GRCh38] Chr18:56246860 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.35T>C (p.Leu12Pro) |
single nucleotide variant |
not specified [RCV004049211] |
Chr18:58611763 [GRCh38] Chr18:56278995 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.35T>G (p.Leu12Arg) |
single nucleotide variant |
not specified [RCV004049212] |
Chr18:58611763 [GRCh38] Chr18:56278995 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.3618G>C (p.Gln1206His) |
single nucleotide variant |
not specified [RCV004049259] |
Chr18:58536569 [GRCh38] Chr18:56203801 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2858T>C (p.Leu953Ser) |
single nucleotide variant |
not specified [RCV004062437] |
Chr18:58537329 [GRCh38] Chr18:56204561 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5451T>C (p.Ser1817=) |
single nucleotide variant |
not specified [RCV004053087] |
Chr18:58529141 [GRCh38] Chr18:56196373 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4947A>T (p.Ser1649=) |
single nucleotide variant |
not specified [RCV004050273] |
Chr18:58535240 [GRCh38] Chr18:56202472 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4960G>C (p.Ala1654Pro) |
single nucleotide variant |
not specified [RCV004050297] |
Chr18:58535227 [GRCh38] Chr18:56202459 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6342G>A (p.Gln2114=) |
single nucleotide variant |
not specified [RCV004053864] |
Chr18:58481994 [GRCh38] Chr18:56149226 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5112A>C (p.Ala1704=) |
single nucleotide variant |
not specified [RCV004051033] |
Chr18:58535075 [GRCh38] Chr18:56202307 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5520T>C (p.Thr1840=) |
single nucleotide variant |
not specified [RCV004053182] |
Chr18:58524044 [GRCh38] Chr18:56191276 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5531C>T (p.Ala1844Val) |
single nucleotide variant |
not specified [RCV004053197] |
Chr18:58524033 [GRCh38] Chr18:56191265 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3650T>C (p.Ile1217Thr) |
single nucleotide variant |
not specified [RCV004049573] |
Chr18:58536537 [GRCh38] Chr18:56203769 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5456T>G (p.Ile1819Ser) |
single nucleotide variant |
not specified [RCV004053091] |
Chr18:58529136 [GRCh38] Chr18:56196368 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2571C>T (p.Asp857=) |
single nucleotide variant |
not specified [RCV004062783] |
Chr18:58537616 [GRCh38] Chr18:56204848 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2572A>C (p.Lys858Gln) |
single nucleotide variant |
not specified [RCV004062784] |
Chr18:58537615 [GRCh38] Chr18:56204847 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3021C>T (p.Asp1007=) |
single nucleotide variant |
not specified [RCV004065539] |
Chr18:58537166 [GRCh38] Chr18:56204398 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5461T>C (p.Trp1821Arg) |
single nucleotide variant |
not specified [RCV004053103] |
Chr18:58529131 [GRCh38] Chr18:56196363 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2220G>A (p.Glu740=) |
single nucleotide variant |
not specified [RCV004061802] |
Chr18:58537967 [GRCh38] Chr18:56205199 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2235A>G (p.Glu745=) |
single nucleotide variant |
not specified [RCV004061855] |
Chr18:58537952 [GRCh38] Chr18:56205184 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5113G>A (p.Val1705Met) |
single nucleotide variant |
not specified [RCV004051035] |
Chr18:58535074 [GRCh38] Chr18:56202306 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5113G>C (p.Val1705Leu) |
single nucleotide variant |
not specified [RCV004051036] |
Chr18:58535074 [GRCh38] Chr18:56202306 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6347A>G (p.Lys2116Arg) |
single nucleotide variant |
not specified [RCV004053868] |
Chr18:58481989 [GRCh38] Chr18:56149221 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2876G>A (p.Gly959Glu) |
single nucleotide variant |
not specified [RCV004062492] |
Chr18:58537311 [GRCh38] Chr18:56204543 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5118G>A (p.Thr1706=) |
single nucleotide variant |
not specified [RCV004051038] |
Chr18:58535069 [GRCh38] Chr18:56202301 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5536G>A (p.Val1846Met) |
single nucleotide variant |
not specified [RCV004053203] |
Chr18:58524028 [GRCh38] Chr18:56191260 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.28C>T (p.Pro10Ser) |
single nucleotide variant |
not specified [RCV004063096] |
Chr18:58611770 [GRCh38] Chr18:56279002 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.3023C>G (p.Thr1008Arg) |
single nucleotide variant |
not specified [RCV004065542] |
Chr18:58537164 [GRCh38] Chr18:56204396 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2577A>G (p.Thr859=) |
single nucleotide variant |
not specified [RCV004062794] |
Chr18:58537610 [GRCh38] Chr18:56204842 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5465C>A (p.Thr1822Lys) |
single nucleotide variant |
not specified [RCV004053106] |
Chr18:58529127 [GRCh38] Chr18:56196359 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2024A>G (p.Glu675Gly) |
single nucleotide variant |
not specified [RCV004059538] |
Chr18:58538163 [GRCh38] Chr18:56205395 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2878G>A (p.Gly960Ser) |
single nucleotide variant |
not specified [RCV004063013] |
Chr18:58537309 [GRCh38] Chr18:56204541 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3367G>C (p.Glu1123Gln) |
single nucleotide variant |
not specified [RCV004047845] |
Chr18:58536820 [GRCh38] Chr18:56204052 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5525C>G (p.Ser1842Cys) |
single nucleotide variant |
not specified [RCV004053183] |
Chr18:58524039 [GRCh38] Chr18:56191271 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5526C>T (p.Ser1842=) |
single nucleotide variant |
ALPK2-related disorder [RCV004757538]|not specified [RCV004053186] |
Chr18:58524038 [GRCh38] Chr18:56191270 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5754C>A (p.Ile1918=) |
single nucleotide variant |
not specified [RCV004053792] |
Chr18:58517094 [GRCh38] Chr18:56184326 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2646C>A (p.Gly882=) |
single nucleotide variant |
not specified [RCV004063520] |
Chr18:58537541 [GRCh38] Chr18:56204773 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.711C>A (p.Ser237=) |
single nucleotide variant |
not specified [RCV004055272] |
Chr18:58580065 [GRCh38] Chr18:56247297 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.302C>T (p.Ser101Phe) |
single nucleotide variant |
ALPK2-related disorder [RCV003943410]|not specified [RCV004065562] |
Chr18:58580474 [GRCh38] Chr18:56247706 [GRCh37] Chr18:18q21.31 |
likely benign|uncertain significance |
NM_052947.4(ALPK2):c.2600A>T (p.Gln867Leu) |
single nucleotide variant |
not specified [RCV004062896] |
Chr18:58537587 [GRCh38] Chr18:56204819 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2616A>G (p.Ser872=) |
single nucleotide variant |
not specified [RCV004062945] |
Chr18:58537571 [GRCh38] Chr18:56204803 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3763A>G (p.Thr1255Ala) |
single nucleotide variant |
not specified [RCV004048042] |
Chr18:58536424 [GRCh38] Chr18:56203656 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5442T>C (p.His1814=) |
single nucleotide variant |
not specified [RCV004053081] |
Chr18:58529150 [GRCh38] Chr18:56196382 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2569G>A (p.Asp857Asn) |
single nucleotide variant |
not specified [RCV004062768] |
Chr18:58537618 [GRCh38] Chr18:56204850 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6351A>G (p.Ala2117=) |
single nucleotide variant |
not specified [RCV004053876] |
Chr18:58481985 [GRCh38] Chr18:56149217 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5496G>A (p.Gln1832=) |
single nucleotide variant |
not specified [RCV004053143] |
Chr18:58529096 [GRCh38] Chr18:56196328 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6352C>T (p.Leu2118=) |
single nucleotide variant |
not specified [RCV004053878] |
Chr18:58481984 [GRCh38] Chr18:56149216 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3546A>G (p.Gly1182=) |
single nucleotide variant |
not specified [RCV004049087] |
Chr18:58536641 [GRCh38] Chr18:56203873 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5550G>A (p.Pro1850=) |
single nucleotide variant |
ALPK2-related disorder [RCV003933756]|not specified [RCV004053222] |
Chr18:58524014 [GRCh38] Chr18:56191246 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1961A>C (p.Gln654Pro) |
single nucleotide variant |
not specified [RCV004061542] |
Chr18:58578815 [GRCh38] Chr18:56246047 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1961A>G (p.Gln654Arg) |
single nucleotide variant |
not specified [RCV004061545] |
Chr18:58578815 [GRCh38] Chr18:56246047 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5554G>A (p.Asp1852Asn) |
single nucleotide variant |
not specified [RCV004053226] |
Chr18:58524010 [GRCh38] Chr18:56191242 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2730T>C (p.Asn910=) |
single nucleotide variant |
not specified [RCV004064032] |
Chr18:58537457 [GRCh38] Chr18:56204689 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2196T>C (p.Asn732=) |
single nucleotide variant |
not specified [RCV004061190] |
Chr18:58537991 [GRCh38] Chr18:56205223 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2218G>A (p.Glu740Lys) |
single nucleotide variant |
not specified [RCV004061790] |
Chr18:58537969 [GRCh38] Chr18:56205201 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3762G>A (p.Leu1254=) |
single nucleotide variant |
not specified [RCV004048040] |
Chr18:58536425 [GRCh38] Chr18:56203657 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1311G>A (p.Gln437=) |
single nucleotide variant |
not specified [RCV004058318] |
Chr18:58579465 [GRCh38] Chr18:56246697 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2626T>A (p.Cys876Ser) |
single nucleotide variant |
not specified [RCV004062980] |
Chr18:58537561 [GRCh38] Chr18:56204793 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2669T>C (p.Phe890Ser) |
single nucleotide variant |
not specified [RCV004063585] |
Chr18:58537518 [GRCh38] Chr18:56204750 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2671A>G (p.Thr891Ala) |
single nucleotide variant |
not specified [RCV004063589] |
Chr18:58537516 [GRCh38] Chr18:56204748 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3776G>A (p.Ser1259Asn) |
single nucleotide variant |
not specified [RCV004048064] |
Chr18:58536411 [GRCh38] Chr18:56203643 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2585T>G (p.Val862Gly) |
single nucleotide variant |
not specified [RCV004062824] |
Chr18:58537602 [GRCh38] Chr18:56204834 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5758A>G (p.Thr1920Ala) |
single nucleotide variant |
not specified [RCV004054052] |
Chr18:58517090 [GRCh38] Chr18:56184322 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.635C>A (p.Ala212Glu) |
single nucleotide variant |
not specified [RCV004053881] |
Chr18:58580141 [GRCh38] Chr18:56247373 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5553G>T (p.Lys1851Asn) |
single nucleotide variant |
not specified [RCV004053224] |
Chr18:58524011 [GRCh38] Chr18:56191243 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.268A>G (p.Lys90Glu) |
single nucleotide variant |
not specified [RCV004063653] |
Chr18:58580508 [GRCh38] Chr18:56247740 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4935A>G (p.Ser1645=) |
single nucleotide variant |
not specified [RCV004050254] |
Chr18:58535252 [GRCh38] Chr18:56202484 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6285G>T (p.Thr2095=) |
single nucleotide variant |
not specified [RCV004053487] |
Chr18:58498060 [GRCh38] Chr18:56165292 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2738A>C (p.Lys913Thr) |
single nucleotide variant |
not specified [RCV004064053] |
Chr18:58537449 [GRCh38] Chr18:56204681 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3673T>C (p.Tyr1225His) |
single nucleotide variant |
not specified [RCV004049634] |
Chr18:58536514 [GRCh38] Chr18:56203746 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3675T>C (p.Tyr1225=) |
single nucleotide variant |
not specified [RCV004049637] |
Chr18:58536512 [GRCh38] Chr18:56203744 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5460C>T (p.Cys1820=) |
single nucleotide variant |
not specified [RCV004053101] |
Chr18:58529132 [GRCh38] Chr18:56196364 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1125G>A (p.Glu375=) |
single nucleotide variant |
not specified [RCV004065553] |
Chr18:58579651 [GRCh38] Chr18:56246883 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2581G>C (p.Glu861Gln) |
single nucleotide variant |
not specified [RCV004062810] |
Chr18:58537606 [GRCh38] Chr18:56204838 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2687T>C (p.Leu896Ser) |
single nucleotide variant |
not specified [RCV004063647] |
Chr18:58537500 [GRCh38] Chr18:56204732 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3783A>C (p.Ala1261=) |
single nucleotide variant |
not specified [RCV004048078] |
Chr18:58536404 [GRCh38] Chr18:56203636 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3783A>G (p.Ala1261=) |
single nucleotide variant |
not specified [RCV004048079] |
Chr18:58536404 [GRCh38] Chr18:56203636 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2880T>A (p.Gly960=) |
single nucleotide variant |
not specified [RCV004063028] |
Chr18:58537307 [GRCh38] Chr18:56204539 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6361T>A (p.Cys2121Ser) |
single nucleotide variant |
not specified [RCV004053887] |
Chr18:58481975 [GRCh38] Chr18:56149207 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5528T>C (p.Phe1843Ser) |
single nucleotide variant |
not specified [RCV004053188] |
Chr18:58524036 [GRCh38] Chr18:56191268 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1956T>C (p.Pro652=) |
single nucleotide variant |
not specified [RCV004061513] |
Chr18:58578820 [GRCh38] Chr18:56246052 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3573G>A (p.Thr1191=) |
single nucleotide variant |
not specified [RCV004049154] |
Chr18:58536614 [GRCh38] Chr18:56203846 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.98G>A (p.Cys33Tyr) |
single nucleotide variant |
not specified [RCV004057690] |
Chr18:58611700 [GRCh38] Chr18:56278932 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.6303G>C (p.Lys2101Asn) |
single nucleotide variant |
not specified [RCV004053812] |
Chr18:58482033 [GRCh38] Chr18:56149265 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1139G>C (p.Gly380Ala) |
single nucleotide variant |
not specified [RCV004047842] |
Chr18:58579637 [GRCh38] Chr18:56246869 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3030T>C (p.Thr1010=) |
single nucleotide variant |
not specified [RCV004066331] |
Chr18:58537157 [GRCh38] Chr18:56204389 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2029G>T (p.Ala677Ser) |
single nucleotide variant |
not specified [RCV004059558] |
Chr18:58538158 [GRCh38] Chr18:56205390 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5480C>T (p.Ser1827Phe) |
single nucleotide variant |
not specified [RCV004053129] |
Chr18:58529112 [GRCh38] Chr18:56196344 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4910T>C (p.Ile1637Thr) |
single nucleotide variant |
not specified [RCV004050213] |
Chr18:58535277 [GRCh38] Chr18:56202509 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4914G>A (p.Gly1638=) |
single nucleotide variant |
not specified [RCV004050217] |
Chr18:58535273 [GRCh38] Chr18:56202505 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3310G>C (p.Asp1104His) |
single nucleotide variant |
not specified [RCV004049522] |
Chr18:58536877 [GRCh38] Chr18:56204109 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5069C>T (p.Ser1690Phe) |
single nucleotide variant |
not specified [RCV004050972] |
Chr18:58535118 [GRCh38] Chr18:56202350 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6366C>T (p.Asn2122=) |
single nucleotide variant |
not specified [RCV004053890] |
Chr18:58481970 [GRCh38] Chr18:56149202 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6367A>C (p.Lys2123Gln) |
single nucleotide variant |
not specified [RCV004053893] |
Chr18:58481969 [GRCh38] Chr18:56149201 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2898T>C (p.Pro966=) |
single nucleotide variant |
not specified [RCV004063087] |
Chr18:58537289 [GRCh38] Chr18:56204521 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5532C>T (p.Ala1844=) |
single nucleotide variant |
not specified [RCV004053198] |
Chr18:58524032 [GRCh38] Chr18:56191264 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5535C>T (p.Ile1845=) |
single nucleotide variant |
not specified [RCV004053202] |
Chr18:58524029 [GRCh38] Chr18:56191261 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5539C>G (p.Gln1847Glu) |
single nucleotide variant |
not specified [RCV004053205] |
Chr18:58524025 [GRCh38] Chr18:56191257 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3557G>A (p.Arg1186His) |
single nucleotide variant |
not specified [RCV004049111] |
Chr18:58536630 [GRCh38] Chr18:56203862 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6374G>C (p.Cys2125Ser) |
single nucleotide variant |
not specified [RCV004053898] |
Chr18:58481962 [GRCh38] Chr18:56149194 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.810T>C (p.Ile270=) |
single nucleotide variant |
not specified [RCV004055458] |
Chr18:58579966 [GRCh38] Chr18:56247198 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3678A>G (p.Arg1226=) |
single nucleotide variant |
not specified [RCV004049643] |
Chr18:58536509 [GRCh38] Chr18:56203741 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5486C>A (p.Ala1829Asp) |
single nucleotide variant |
not specified [RCV004053131] |
Chr18:58529106 [GRCh38] Chr18:56196338 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5487C>T (p.Ala1829=) |
single nucleotide variant |
not specified [RCV004053132] |
Chr18:58529105 [GRCh38] Chr18:56196337 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4920C>A (p.Thr1640=) |
single nucleotide variant |
not specified [RCV004050223] |
Chr18:58535267 [GRCh38] Chr18:56202499 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.984G>C (p.Glu328Asp) |
single nucleotide variant |
not specified [RCV004057649] |
Chr18:58579792 [GRCh38] Chr18:56247024 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.194A>G (p.Glu65Gly) |
single nucleotide variant |
not specified [RCV004061471] |
Chr18:58607355 [GRCh38] Chr18:56274587 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.3017_3031del (p.Glu1006_Thr1010del) |
deletion |
ALPK2-related disorder [RCV003973408]|not specified [RCV004065522] |
Chr18:58537156..58537170 [GRCh38] Chr18:56204388..56204402 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.5453C>T (p.Thr1818Ile) |
single nucleotide variant |
not specified [RCV004053089] |
Chr18:58529139 [GRCh38] Chr18:56196371 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2890C>T (p.Pro964Ser) |
single nucleotide variant |
not specified [RCV004063065] |
Chr18:58537297 [GRCh38] Chr18:56204529 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5516C>T (p.Ser1839Phe) |
single nucleotide variant |
not specified [RCV004053177] |
Chr18:58524048 [GRCh38] Chr18:56191280 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5749C>G (p.Gln1917Glu) |
single nucleotide variant |
not specified [RCV004053786] |
Chr18:58517099 [GRCh38] Chr18:56184331 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2031T>C (p.Ala677=) |
single nucleotide variant |
not specified [RCV004059570] |
Chr18:58538156 [GRCh38] Chr18:56205388 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1314T>C (p.Asp438=) |
single nucleotide variant |
not specified [RCV004058336] |
Chr18:58579462 [GRCh38] Chr18:56246694 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6281C>A (p.Ala2094Glu) |
single nucleotide variant |
not specified [RCV004053483] |
Chr18:58498064 [GRCh38] Chr18:56165296 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6282A>G (p.Ala2094=) |
single nucleotide variant |
not specified [RCV004053484] |
Chr18:58498063 [GRCh38] Chr18:56165295 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2735C>A (p.Ala912Asp) |
single nucleotide variant |
not specified [RCV004064037] |
Chr18:58537452 [GRCh38] Chr18:56204684 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6285G>A (p.Thr2095=) |
single nucleotide variant |
not specified [RCV004053486] |
Chr18:58498060 [GRCh38] Chr18:56165292 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6286C>T (p.Leu2096=) |
single nucleotide variant |
not specified [RCV004053489] |
Chr18:58498059 [GRCh38] Chr18:56165291 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6289G>A (p.Ala2097Thr) |
single nucleotide variant |
not specified [RCV004053493] |
Chr18:58498056 [GRCh38] Chr18:56165288 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2836C>T (p.Leu946Phe) |
single nucleotide variant |
not specified [RCV004062369] |
Chr18:58537351 [GRCh38] Chr18:56204583 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2843C>G (p.Ser948Cys) |
single nucleotide variant |
not specified [RCV004062392] |
Chr18:58537344 [GRCh38] Chr18:56204576 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6219T>A (p.Ser2073Arg) |
single nucleotide variant |
not specified [RCV004053403] |
Chr18:58503959 [GRCh38] Chr18:56171191 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.985T>G (p.Tyr329Asp) |
single nucleotide variant |
not specified [RCV004057660] |
Chr18:58579791 [GRCh38] Chr18:56247023 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5467A>G (p.Lys1823Glu) |
single nucleotide variant |
not specified [RCV004053107] |
Chr18:58529125 [GRCh38] Chr18:56196357 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2580G>A (p.Leu860=) |
single nucleotide variant |
not specified [RCV004062806] |
Chr18:58537607 [GRCh38] Chr18:56204839 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2619G>T (p.Val873=) |
single nucleotide variant |
not specified [RCV004062954] |
Chr18:58537568 [GRCh38] Chr18:56204800 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.670T>C (p.Tyr224His) |
single nucleotide variant |
not specified [RCV004052740] |
Chr18:58580106 [GRCh38] Chr18:56247338 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5540A>C (p.Gln1847Pro) |
single nucleotide variant |
not specified [RCV004053211] |
Chr18:58524024 [GRCh38] Chr18:56191256 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3585G>A (p.Val1195=) |
single nucleotide variant |
not specified [RCV004049184] |
Chr18:58536602 [GRCh38] Chr18:56203834 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3588G>T (p.Val1196=) |
single nucleotide variant |
not specified [RCV004049192] |
Chr18:58536599 [GRCh38] Chr18:56203831 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5754C>T (p.Ile1918=) |
single nucleotide variant |
not specified [RCV004053793] |
Chr18:58517094 [GRCh38] Chr18:56184326 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5757C>G (p.Ala1919=) |
single nucleotide variant |
not specified [RCV004053795] |
Chr18:58517091 [GRCh38] Chr18:56184323 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2643C>T (p.Asp881=) |
single nucleotide variant |
not specified [RCV004063510] |
Chr18:58537544 [GRCh38] Chr18:56204776 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2034G>A (p.Gly678=) |
single nucleotide variant |
not specified [RCV004059578] |
Chr18:58538153 [GRCh38] Chr18:56205385 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.708T>C (p.His236=) |
single nucleotide variant |
not specified [RCV004055241] |
Chr18:58580068 [GRCh38] Chr18:56247300 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.708T>G (p.His236Gln) |
single nucleotide variant |
not specified [RCV004055243] |
Chr18:58580068 [GRCh38] Chr18:56247300 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2737A>G (p.Lys913Glu) |
single nucleotide variant |
not specified [RCV004064049] |
Chr18:58537450 [GRCh38] Chr18:56204682 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6291T>A (p.Ala2097=) |
single nucleotide variant |
not specified [RCV004053796] |
Chr18:58498054 [GRCh38] Chr18:56165286 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6291T>C (p.Ala2097=) |
single nucleotide variant |
not specified [RCV004053797] |
Chr18:58498054 [GRCh38] Chr18:56165286 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.121C>T (p.Pro41Ser) |
single nucleotide variant |
not specified [RCV004053798] |
Chr18:58607428 [GRCh38] Chr18:56274660 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4992A>G (p.Lys1664=) |
single nucleotide variant |
not specified [RCV004050337] |
Chr18:58535195 [GRCh38] Chr18:56202427 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5505A>G (p.Ala1835=) |
single nucleotide variant |
not specified [RCV004053168] |
Chr18:58524059 [GRCh38] Chr18:56191291 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3560C>T (p.Ser1187Leu) |
single nucleotide variant |
not specified [RCV004049129] |
Chr18:58536627 [GRCh38] Chr18:56203859 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5509G>A (p.Asp1837Asn) |
single nucleotide variant |
not specified [RCV004053172] |
Chr18:58524055 [GRCh38] Chr18:56191287 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.288C>G (p.Ile96Met) |
single nucleotide variant |
not specified [RCV004063057] |
Chr18:58580488 [GRCh38] Chr18:56247720 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.575G>T (p.Gly192Val) |
single nucleotide variant |
not specified [RCV004054056] |
Chr18:58580201 [GRCh38] Chr18:56247433 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5760G>A (p.Thr1920=) |
single nucleotide variant |
not specified [RCV004054057] |
Chr18:58517088 [GRCh38] Chr18:56184320 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.273C>G (p.Asn91Lys) |
single nucleotide variant |
not specified [RCV004064065] |
Chr18:58580503 [GRCh38] Chr18:56247735 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3296C>T (p.Ser1099Phe) |
single nucleotide variant |
not specified [RCV004049482] |
Chr18:58536891 [GRCh38] Chr18:56204123 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6303G>A (p.Lys2101=) |
single nucleotide variant |
not specified [RCV004053810] |
Chr18:58482033 [GRCh38] Chr18:56149265 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5013T>A (p.Asp1671Glu) |
single nucleotide variant |
not specified [RCV004050889] |
Chr18:58535174 [GRCh38] Chr18:56202406 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6304G>A (p.Gly2102Arg) |
single nucleotide variant |
not specified [RCV004053815] |
Chr18:58482032 [GRCh38] Chr18:56149264 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3652C>T (p.Leu1218Phe) |
single nucleotide variant |
not specified [RCV004049576] |
Chr18:58536535 [GRCh38] Chr18:56203767 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3657G>A (p.Leu1219=) |
single nucleotide variant |
not specified [RCV004049583] |
Chr18:58536530 [GRCh38] Chr18:56203762 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3562G>C (p.Gly1188Arg) |
single nucleotide variant |
not specified [RCV004049133] |
Chr18:58536625 [GRCh38] Chr18:56203857 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3564T>G (p.Gly1188=) |
single nucleotide variant |
not specified [RCV004049137] |
Chr18:58536623 [GRCh38] Chr18:56203855 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.264G>A (p.Ser88=) |
single nucleotide variant |
ALPK2-related disorder [RCV003971299]|not specified [RCV004063531] |
Chr18:58580512 [GRCh38] Chr18:56247744 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.2038G>A (p.Glu680Lys) |
single nucleotide variant |
not specified [RCV004059590] |
Chr18:58538149 [GRCh38] Chr18:56205381 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.264G>C (p.Ser88=) |
single nucleotide variant |
not specified [RCV004063532] |
Chr18:58580512 [GRCh38] Chr18:56247744 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.70C>A (p.Pro24Thr) |
single nucleotide variant |
not specified [RCV004055255] |
Chr18:58611728 [GRCh38] Chr18:56278960 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2862G>A (p.Val954=) |
single nucleotide variant |
not specified [RCV004062454] |
Chr18:58537325 [GRCh38] Chr18:56204557 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.972T>C (p.Asp324=) |
single nucleotide variant |
not specified [RCV004057561] |
Chr18:58579804 [GRCh38] Chr18:56247036 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5412A>C (p.Val1804=) |
single nucleotide variant |
not specified [RCV004053041] |
Chr18:58529180 [GRCh38] Chr18:56196412 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5423G>A (p.Cys1808Tyr) |
single nucleotide variant |
not specified [RCV004053052] |
Chr18:58529169 [GRCh38] Chr18:56196401 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5075A>G (p.Glu1692Gly) |
single nucleotide variant |
not specified [RCV004050978] |
Chr18:58535112 [GRCh38] Chr18:56202344 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5514C>T (p.Asn1838=) |
single nucleotide variant |
not specified [RCV004053176] |
Chr18:58524050 [GRCh38] Chr18:56191282 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5519C>T (p.Thr1840Ile) |
single nucleotide variant |
not specified [RCV004053179] |
Chr18:58524045 [GRCh38] Chr18:56191277 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6025C>T (p.Pro2009Ser) |
single nucleotide variant |
not specified [RCV004320805] |
Chr18:58514997 [GRCh38] Chr18:56182229 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5342G>C (p.Arg1781Thr) |
single nucleotide variant |
not specified [RCV004052428] |
Chr18:58534845 [GRCh38] Chr18:56202077 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5358A>G (p.Pro1786=) |
single nucleotide variant |
not specified [RCV004052449] |
Chr18:58529234 [GRCh38] Chr18:56196466 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5376C>T (p.Ile1792=) |
single nucleotide variant |
not specified [RCV004052467] |
Chr18:58529216 [GRCh38] Chr18:56196448 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1728C>T (p.Thr576=) |
single nucleotide variant |
not specified [RCV004060665] |
Chr18:58579048 [GRCh38] Chr18:56246280 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5380G>C (p.Ala1794Pro) |
single nucleotide variant |
not specified [RCV004052477] |
Chr18:58529212 [GRCh38] Chr18:56196444 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.185A>T (p.Glu62Val) |
single nucleotide variant |
not specified [RCV004060055] |
Chr18:58607364 [GRCh38] Chr18:56274596 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1861T>C (p.Ser621Pro) |
single nucleotide variant |
not specified [RCV004060065] |
Chr18:58578915 [GRCh38] Chr18:56246147 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5401T>C (p.Ser1801Pro) |
single nucleotide variant |
not specified [RCV004053024] |
Chr18:58529191 [GRCh38] Chr18:56196423 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5661T>G (p.Thr1887=) |
single nucleotide variant |
not specified [RCV004053674] |
Chr18:58523810 [GRCh38] Chr18:56191042 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1868C>T (p.Ser623Phe) |
single nucleotide variant |
not specified [RCV004060089] |
Chr18:58578908 [GRCh38] Chr18:56246140 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5670T>C (p.Cys1890=) |
single nucleotide variant |
not specified [RCV004053681] |
Chr18:58517178 [GRCh38] Chr18:56184410 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.568C>A (p.Pro190Thr) |
single nucleotide variant |
not specified [RCV004053703] |
Chr18:58580208 [GRCh38] Chr18:56247440 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5694C>A (p.Leu1898=) |
single nucleotide variant |
not specified [RCV004053712] |
Chr18:58517154 [GRCh38] Chr18:56184386 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4578A>G (p.Gln1526=) |
single nucleotide variant |
not specified [RCV004051452] |
Chr18:58535609 [GRCh38] Chr18:56202841 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1817C>T (p.Thr606Ile) |
single nucleotide variant |
not specified [RCV004059355] |
Chr18:58578959 [GRCh38] Chr18:56246191 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.570T>A (p.Pro190=) |
single nucleotide variant |
not specified [RCV004053739] |
Chr18:58580206 [GRCh38] Chr18:56247438 [GRCh37] Chr18:18q21.31 |
likely benign |
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 |
copy number loss |
not provided [RCV002473956] |
Chr18:53624405..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NM_052947.4(ALPK2):c.4314C>T (p.Asp1438=) |
single nucleotide variant |
not specified [RCV004049977] |
Chr18:58535873 [GRCh38] Chr18:56203105 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4609C>T (p.Pro1537Ser) |
single nucleotide variant |
not specified [RCV004051505] |
Chr18:58535578 [GRCh38] Chr18:56202810 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4321A>G (p.Met1441Val) |
single nucleotide variant |
ALPK2-related disorder [RCV003943364]|not specified [RCV004049989] |
Chr18:58535866 [GRCh38] Chr18:56203098 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4325G>A (p.Gly1442Asp) |
single nucleotide variant |
not specified [RCV004049998] |
Chr18:58535862 [GRCh38] Chr18:56203094 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1883C>A (p.Thr628Lys) |
single nucleotide variant |
not specified [RCV004060170] |
Chr18:58578893 [GRCh38] Chr18:56246125 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1885A>G (p.Asn629Asp) |
single nucleotide variant |
not specified [RCV004060176] |
Chr18:58578891 [GRCh38] Chr18:56246123 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.573G>A (p.Leu191=) |
single nucleotide variant |
not specified [RCV004053773] |
Chr18:58580203 [GRCh38] Chr18:56247435 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1916C>G (p.Thr639Ser) |
single nucleotide variant |
not specified [RCV004060841] |
Chr18:58578860 [GRCh38] Chr18:56246092 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4349C>T (p.Ala1450Val) |
single nucleotide variant |
not specified [RCV004050034] |
Chr18:58535838 [GRCh38] Chr18:56203070 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4941C>T (p.Ser1647=) |
single nucleotide variant |
not specified [RCV004050266] |
Chr18:58535246 [GRCh38] Chr18:56202478 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4356G>A (p.Leu1452=) |
single nucleotide variant |
not specified [RCV004050048] |
Chr18:58535831 [GRCh38] Chr18:56203063 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.435T>C (p.His145=) |
single nucleotide variant |
not specified [RCV004050055] |
Chr18:58580341 [GRCh38] Chr18:56247573 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4979G>A (p.Arg1660His) |
single nucleotide variant |
not specified [RCV004050317] |
Chr18:58535208 [GRCh38] Chr18:56202440 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.793A>G (p.Lys265Glu) |
single nucleotide variant |
not specified [RCV004054797] |
Chr18:58579983 [GRCh38] Chr18:56247215 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4136A>C (p.Lys1379Thr) |
single nucleotide variant |
not specified [RCV004051743] |
Chr18:58536051 [GRCh38] Chr18:56203283 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4150G>A (p.Asp1384Asn) |
single nucleotide variant |
not specified [RCV004051782] |
Chr18:58536037 [GRCh38] Chr18:56203269 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2008A>G (p.Met670Val) |
single nucleotide variant |
not specified [RCV004059488] |
Chr18:58538179 [GRCh38] Chr18:56205411 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2009T>C (p.Met670Thr) |
single nucleotide variant |
not specified [RCV004059493] |
Chr18:58538178 [GRCh38] Chr18:56205410 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2010G>T (p.Met670Ile) |
single nucleotide variant |
not specified [RCV004059503] |
Chr18:58538177 [GRCh38] Chr18:56205409 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5125G>A (p.Glu1709Lys) |
single nucleotide variant |
not specified [RCV004051052] |
Chr18:58535062 [GRCh38] Chr18:56202294 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4386G>A (p.Leu1462=) |
single nucleotide variant |
not specified [RCV004050609] |
Chr18:58535801 [GRCh38] Chr18:56203033 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.438T>C (p.Pro146=) |
single nucleotide variant |
not specified [RCV004050617] |
Chr18:58580338 [GRCh38] Chr18:56247570 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5280A>G (p.Lys1760=) |
single nucleotide variant |
not specified [RCV004052330] |
Chr18:58534907 [GRCh38] Chr18:56202139 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5283C>T (p.Leu1761=) |
single nucleotide variant |
not specified [RCV004052332] |
Chr18:58534904 [GRCh38] Chr18:56202136 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2114C>T (p.Ala705Val) |
single nucleotide variant |
not specified [RCV004060377] |
Chr18:58538073 [GRCh38] Chr18:56205305 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2123C>T (p.Ser708Leu) |
single nucleotide variant |
not specified [RCV004060408] |
Chr18:58538064 [GRCh38] Chr18:56205296 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5290T>C (p.Ser1764Pro) |
single nucleotide variant |
not specified [RCV004052346] |
Chr18:58534897 [GRCh38] Chr18:56202129 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5293T>C (p.Leu1765=) |
single nucleotide variant |
not specified [RCV004052354] |
Chr18:58534894 [GRCh38] Chr18:56202126 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5304A>T (p.Thr1768=) |
single nucleotide variant |
not specified [RCV004052374] |
Chr18:58534883 [GRCh38] Chr18:56202115 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.530T>G (p.Leu177Trp) |
single nucleotide variant |
not specified [RCV004052381] |
Chr18:58580246 [GRCh38] Chr18:56247478 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5579T>A (p.Ile1860Asn) |
single nucleotide variant |
not specified [RCV004053545] |
Chr18:58523985 [GRCh38] Chr18:56191217 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5588G>C (p.Ser1863Thr) |
single nucleotide variant |
not specified [RCV004053563] |
Chr18:58523976 [GRCh38] Chr18:56191208 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1204G>T (p.Gly402Cys) |
single nucleotide variant |
not specified [RCV004053567] |
Chr18:58579572 [GRCh38] Chr18:56246804 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.560C>T (p.Ser187Phe) |
single nucleotide variant |
not specified [RCV004053591] |
Chr18:58580216 [GRCh38] Chr18:56247448 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.561T>C (p.Ser187=) |
single nucleotide variant |
not specified [RCV004053615] |
Chr18:58580215 [GRCh38] Chr18:56247447 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5622A>G (p.Thr1874=) |
single nucleotide variant |
not specified [RCV004053618] |
Chr18:58523942 [GRCh38] Chr18:56191174 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1942G>A (p.Asp648Asn) |
single nucleotide variant |
not specified [RCV004060964] |
Chr18:58578834 [GRCh38] Chr18:56246066 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4951A>G (p.Lys1651Glu) |
single nucleotide variant |
not specified [RCV004329899] |
Chr18:58535236 [GRCh38] Chr18:56202468 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5688C>T (p.Ser1896=) |
single nucleotide variant |
not specified [RCV004329902] |
Chr18:58517160 [GRCh38] Chr18:56184392 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.59C>T (p.Ser20Phe) |
single nucleotide variant |
not specified [RCV004329922] |
Chr18:58611739 [GRCh38] Chr18:56278971 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.856G>T (p.Gly286Cys) |
single nucleotide variant |
not specified [RCV004056518] |
Chr18:58579920 [GRCh38] Chr18:56247152 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.531G>C (p.Leu177Phe) |
single nucleotide variant |
not specified [RCV004052395] |
Chr18:58580245 [GRCh38] Chr18:56247477 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5328G>A (p.Lys1776=) |
single nucleotide variant |
not specified [RCV004052399] |
Chr18:58534859 [GRCh38] Chr18:56202091 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5328G>C (p.Lys1776Asn) |
single nucleotide variant |
not specified [RCV004052400] |
Chr18:58534859 [GRCh38] Chr18:56202091 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5329C>A (p.Pro1777Thr) |
single nucleotide variant |
not specified [RCV004052402] |
Chr18:58534858 [GRCh38] Chr18:56202090 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6500A>C (p.Glu2167Ala) |
single nucleotide variant |
not specified [RCV004054332] |
Chr18:58481836 [GRCh38] Chr18:56149068 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3511C>T (p.Pro1171Ser) |
single nucleotide variant |
not specified [RCV004048697] |
Chr18:58536676 [GRCh38] Chr18:56203908 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1427G>T (p.Arg476Ile) |
single nucleotide variant |
not specified [RCV004057268] |
Chr18:58579349 [GRCh38] Chr18:56246581 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.938A>G (p.Glu313Gly) |
single nucleotide variant |
not specified [RCV004055724] |
Chr18:58579838 [GRCh38] Chr18:56247070 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4103A>C (p.Asn1368Thr) |
single nucleotide variant |
not specified [RCV004051334] |
Chr18:58536084 [GRCh38] Chr18:56203316 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4111A>C (p.Asn1371His) |
single nucleotide variant |
not specified [RCV004051353] |
Chr18:58536076 [GRCh38] Chr18:56203308 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6111T>G (p.Phe2037Leu) |
single nucleotide variant |
not specified [RCV004053267] |
Chr18:58504067 [GRCh38] Chr18:56171299 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.12C>T (p.Ser4=) |
single nucleotide variant |
not specified [RCV004058246] |
Chr18:58611786 [GRCh38] Chr18:56279018 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.3529G>A (p.Ala1177Thr) |
single nucleotide variant |
not specified [RCV004048745] |
Chr18:58536658 [GRCh38] Chr18:56203890 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2574G>T (p.Lys858Asn) |
single nucleotide variant |
not specified [RCV004062790] |
Chr18:58537613 [GRCh38] Chr18:56204845 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6124A>G (p.Ile2042Val) |
single nucleotide variant |
not specified [RCV004053279] |
Chr18:58504054 [GRCh38] Chr18:56171286 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6138A>G (p.Lys2046=) |
single nucleotide variant |
not specified [RCV004053300] |
Chr18:58504040 [GRCh38] Chr18:56171272 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2287G>C (p.Asp763His) |
single nucleotide variant |
not specified [RCV004062555] |
Chr18:58537900 [GRCh38] Chr18:56205132 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6150C>A (p.Phe2050Leu) |
single nucleotide variant |
not specified [RCV004053321] |
Chr18:58504028 [GRCh38] Chr18:56171260 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6155G>A (p.Arg2052Lys) |
single nucleotide variant |
not specified [RCV004053328] |
Chr18:58504023 [GRCh38] Chr18:56171255 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2294G>T (p.Arg765Leu) |
single nucleotide variant |
not specified [RCV004062586] |
Chr18:58537893 [GRCh38] Chr18:56205125 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4652C>A (p.Ala1551Asp) |
single nucleotide variant |
not specified [RCV004051580] |
Chr18:58535535 [GRCh38] Chr18:56202767 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1580G>A (p.Ser527Asn) |
single nucleotide variant |
not specified [RCV004057305] |
Chr18:58579196 [GRCh38] Chr18:56246428 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4829G>A (p.Cys1610Tyr) |
single nucleotide variant |
not specified [RCV004052196] |
Chr18:58535358 [GRCh38] Chr18:56202590 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2121C>T (p.His707=) |
single nucleotide variant |
not specified [RCV004060404] |
Chr18:58538066 [GRCh38] Chr18:56205298 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2124G>A (p.Ser708=) |
single nucleotide variant |
not specified [RCV004060418] |
Chr18:58538063 [GRCh38] Chr18:56205295 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2129T>C (p.Val710Ala) |
single nucleotide variant |
not specified [RCV004060437] |
Chr18:58538058 [GRCh38] Chr18:56205290 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.556A>T (p.Ser186Cys) |
single nucleotide variant |
not specified [RCV004053248] |
Chr18:58580220 [GRCh38] Chr18:56247452 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2451T>C (p.Asp817=) |
single nucleotide variant |
not specified [RCV004063872] |
Chr18:58537736 [GRCh38] Chr18:56204968 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2388G>A (p.Arg796=) |
single nucleotide variant |
not specified [RCV004063372] |
Chr18:58537799 [GRCh38] Chr18:56205031 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2593C>G (p.Gln865Glu) |
single nucleotide variant |
not specified [RCV004062857] |
Chr18:58537594 [GRCh38] Chr18:56204826 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2596A>G (p.Thr866Ala) |
single nucleotide variant |
not specified [RCV004062867] |
Chr18:58537591 [GRCh38] Chr18:56204823 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2310G>A (p.Glu770=) |
single nucleotide variant |
not specified [RCV004062650] |
Chr18:58537877 [GRCh38] Chr18:56205109 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2131A>C (p.Lys711Gln) |
single nucleotide variant |
not specified [RCV004060446] |
Chr18:58538056 [GRCh38] Chr18:56205288 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2132A>G (p.Lys711Arg) |
single nucleotide variant |
not specified [RCV004060450] |
Chr18:58538055 [GRCh38] Chr18:56205287 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2136C>A (p.Pro712=) |
single nucleotide variant |
not specified [RCV004060463] |
Chr18:58538051 [GRCh38] Chr18:56205283 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.102A>C (p.Ile34=) |
single nucleotide variant |
not specified [RCV004058784] |
Chr18:58611696 [GRCh38] Chr18:56278928 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.2469T>G (p.Val823=) |
single nucleotide variant |
not specified [RCV004063921] |
Chr18:58537718 [GRCh38] Chr18:56204950 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2477C>G (p.Pro826Arg) |
single nucleotide variant |
not specified [RCV004599395] |
Chr18:58537710 [GRCh38] Chr18:56204942 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2600A>C (p.Gln867Pro) |
single nucleotide variant |
not specified [RCV004062895] |
Chr18:58537587 [GRCh38] Chr18:56204819 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1521G>A (p.Gly507=) |
single nucleotide variant |
not specified [RCV004058655] |
Chr18:58579255 [GRCh38] Chr18:56246487 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3140A>G (p.Lys1047Arg) |
single nucleotide variant |
not specified [RCV004048450] |
Chr18:58537047 [GRCh38] Chr18:56204279 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3142G>T (p.Val1048Phe) |
single nucleotide variant |
not specified [RCV004048455] |
Chr18:58537045 [GRCh38] Chr18:56204277 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2612C>T (p.Thr871Ile) |
single nucleotide variant |
not specified [RCV004062934] |
Chr18:58537575 [GRCh38] Chr18:56204807 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.830C>T (p.Ser277Phe) |
single nucleotide variant |
not specified [RCV004056030] |
Chr18:58579946 [GRCh38] Chr18:56247178 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4725C>G (p.Pro1575=) |
single nucleotide variant |
not specified [RCV004052038] |
Chr18:58535462 [GRCh38] Chr18:56202694 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1679G>A (p.Gly560Asp) |
single nucleotide variant |
not specified [RCV004059865] |
Chr18:58579097 [GRCh38] Chr18:56246329 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2155C>T (p.His719Tyr) |
single nucleotide variant |
not specified [RCV004061050] |
Chr18:58538032 [GRCh38] Chr18:56205264 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2741T>C (p.Val914Ala) |
single nucleotide variant |
not specified [RCV004064084] |
Chr18:58537446 [GRCh38] Chr18:56204678 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5812G>A (p.Val1938Met) |
single nucleotide variant |
not specified [RCV004054133] |
Chr18:58517036 [GRCh38] Chr18:56184268 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5821G>A (p.Gly1941Ser) |
single nucleotide variant |
not specified [RCV004054146] |
Chr18:58517027 [GRCh38] Chr18:56184259 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.583G>A (p.Gly195Arg) |
single nucleotide variant |
not specified [RCV004054171] |
Chr18:58580193 [GRCh38] Chr18:56247425 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3154C>T (p.Pro1052Ser) |
single nucleotide variant |
not specified [RCV004048486] |
Chr18:58537033 [GRCh38] Chr18:56204265 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.321A>G (p.Ser107=) |
single nucleotide variant |
not specified [RCV004049000] |
Chr18:58580455 [GRCh38] Chr18:56247687 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.717A>C (p.Ala239=) |
single nucleotide variant |
not specified [RCV004055319] |
Chr18:58580059 [GRCh38] Chr18:56247291 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3226G>T (p.Ala1076Ser) |
single nucleotide variant |
not specified [RCV004049027] |
Chr18:58536961 [GRCh38] Chr18:56204193 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2524C>G (p.Leu842Val) |
single nucleotide variant |
not specified [RCV004062093] |
Chr18:58537663 [GRCh38] Chr18:56204895 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5181A>T (p.Val1727=) |
single nucleotide variant |
not specified [RCV004051648] |
Chr18:58535006 [GRCh38] Chr18:56202238 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2766C>T (p.Ala922=) |
single nucleotide variant |
not specified [RCV004064161] |
Chr18:58537421 [GRCh38] Chr18:56204653 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.276T>G (p.Ser92=) |
single nucleotide variant |
not specified [RCV004064178] |
Chr18:58580500 [GRCh38] Chr18:56247732 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3354C>T (p.Asp1118=) |
single nucleotide variant |
not specified [RCV004047802] |
Chr18:58536833 [GRCh38] Chr18:56204065 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3925G>C (p.Asp1309His) |
single nucleotide variant |
not specified [RCV004050411] |
Chr18:58536262 [GRCh38] Chr18:56203494 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3947G>A (p.Gly1316Asp) |
single nucleotide variant |
not specified [RCV004050451] |
Chr18:58536240 [GRCh38] Chr18:56203472 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2250T>C (p.Thr750=) |
single nucleotide variant |
not specified [RCV004061911] |
Chr18:58537937 [GRCh38] Chr18:56205169 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2259A>C (p.Pro753=) |
single nucleotide variant |
not specified [RCV004061938] |
Chr18:58537928 [GRCh38] Chr18:56205160 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5027G>T (p.Gly1676Val) |
single nucleotide variant |
not specified [RCV004050910] |
Chr18:58535160 [GRCh38] Chr18:56202392 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1002T>C (p.Asp334=) |
single nucleotide variant |
not specified [RCV004057957] |
Chr18:58579774 [GRCh38] Chr18:56247006 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6159A>G (p.Arg2053=) |
single nucleotide variant |
not specified [RCV004053333] |
Chr18:58504019 [GRCh38] Chr18:56171251 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4043A>G (p.Glu1348Gly) |
single nucleotide variant |
not specified [RCV004051191] |
Chr18:58536144 [GRCh38] Chr18:56203376 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5043G>A (p.Ala1681=) |
single nucleotide variant |
not specified [RCV004050934] |
Chr18:58535144 [GRCh38] Chr18:56202376 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2398G>A (p.Ala800Thr) |
single nucleotide variant |
not specified [RCV004599392] |
Chr18:58537789 [GRCh38] Chr18:56205021 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3252C>T (p.His1084=) |
single nucleotide variant |
not specified [RCV004049355] |
Chr18:58536935 [GRCh38] Chr18:56204167 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6429G>A (p.Pro2143=) |
single nucleotide variant |
not specified [RCV004053972] |
Chr18:58481907 [GRCh38] Chr18:56149139 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.51A>G (p.Thr17=) |
single nucleotide variant |
not specified [RCV004051682] |
Chr18:58611747 [GRCh38] Chr18:56278979 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.1701C>A (p.Ala567=) |
single nucleotide variant |
not specified [RCV004060515] |
Chr18:58579075 [GRCh38] Chr18:56246307 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.65A>G (p.Lys22Arg) |
single nucleotide variant |
not specified [RCV004054447] |
Chr18:58611733 [GRCh38] Chr18:56278965 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2400A>T (p.Ala800=) |
single nucleotide variant |
not specified [RCV004063412] |
Chr18:58537787 [GRCh38] Chr18:56205019 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.303C>T (p.Ser101=) |
single nucleotide variant |
not specified [RCV004066354] |
Chr18:58580473 [GRCh38] Chr18:56247705 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1656C>T (p.Asn552=) |
single nucleotide variant |
not specified [RCV004059744] |
Chr18:58579120 [GRCh38] Chr18:56246352 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6443G>T (p.Ser2148Ile) |
single nucleotide variant |
not specified [RCV004053997] |
Chr18:58481893 [GRCh38] Chr18:56149125 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1472T>C (p.Val491Ala) |
single nucleotide variant |
not specified [RCV004058020] |
Chr18:58579304 [GRCh38] Chr18:56246536 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5085A>C (p.Ala1695=) |
single nucleotide variant |
not specified [RCV004050995] |
Chr18:58535102 [GRCh38] Chr18:56202334 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1411G>A (p.Asp471Asn) |
single nucleotide variant |
not specified [RCV004057189] |
Chr18:58579365 [GRCh38] Chr18:56246597 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3438T>A (p.Gly1146=) |
single nucleotide variant |
not specified [RCV004048525] |
Chr18:58536749 [GRCh38] Chr18:56203981 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2931T>A (p.Ser977Arg) |
single nucleotide variant |
not specified [RCV004063187] |
Chr18:58537256 [GRCh38] Chr18:56204488 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.343C>A (p.Pro115Thr) |
single nucleotide variant |
not specified [RCV004048530] |
Chr18:58580433 [GRCh38] Chr18:56247665 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2933A>G (p.Tyr978Cys) |
single nucleotide variant |
not specified [RCV004063188] |
Chr18:58537254 [GRCh38] Chr18:56204486 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3442C>G (p.Leu1148Val) |
single nucleotide variant |
not specified [RCV004048539] |
Chr18:58536745 [GRCh38] Chr18:56203977 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4027G>A (p.Val1343Met) |
single nucleotide variant |
not specified [RCV004051155] |
Chr18:58536160 [GRCh38] Chr18:56203392 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3059C>A (p.Ala1020Asp) |
single nucleotide variant |
not specified [RCV004066401] |
Chr18:58537128 [GRCh38] Chr18:56204360 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2488T>C (p.Tyr830His) |
single nucleotide variant |
not specified [RCV004063989] |
Chr18:58537699 [GRCh38] Chr18:56204931 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6463A>G (p.Met2155Val) |
single nucleotide variant |
not specified [RCV004054019] |
Chr18:58481873 [GRCh38] Chr18:56149105 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1668T>C (p.Ser556=) |
single nucleotide variant |
not specified [RCV004059809] |
Chr18:58579108 [GRCh38] Chr18:56246340 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4467T>C (p.Thr1489=) |
single nucleotide variant |
not specified [RCV004050751] |
Chr18:58535720 [GRCh38] Chr18:56202952 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2944G>T (p.Val982Leu) |
single nucleotide variant |
not specified [RCV004063225] |
Chr18:58537243 [GRCh38] Chr18:56204475 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6387A>G (p.Gly2129=) |
single nucleotide variant |
not specified [RCV004053916] |
Chr18:58481949 [GRCh38] Chr18:56149181 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6492C>T (p.Thr2164=) |
single nucleotide variant |
not specified [RCV004054318] |
Chr18:58481844 [GRCh38] Chr18:56149076 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4494C>T (p.Ser1498=) |
single nucleotide variant |
not specified [RCV004050800] |
Chr18:58535693 [GRCh38] Chr18:56202925 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3477G>A (p.Thr1159=) |
single nucleotide variant |
not specified [RCV004048610] |
Chr18:58536710 [GRCh38] Chr18:56203942 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2084G>C (p.Gly695Ala) |
single nucleotide variant |
not specified [RCV004060277] |
Chr18:58538103 [GRCh38] Chr18:56205335 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2085A>T (p.Gly695=) |
single nucleotide variant |
not specified [RCV004060278] |
Chr18:58538102 [GRCh38] Chr18:56205334 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1436T>G (p.Phe479Cys) |
single nucleotide variant |
not specified [RCV004057841] |
Chr18:58579340 [GRCh38] Chr18:56246572 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1444G>A (p.Asp482Asn) |
single nucleotide variant |
not specified [RCV004057877] |
Chr18:58579332 [GRCh38] Chr18:56246564 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4501G>A (p.Gly1501Ser) |
single nucleotide variant |
not specified [RCV004050817] |
Chr18:58535686 [GRCh38] Chr18:56202918 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3586G>C (p.Val1196Leu) |
single nucleotide variant |
not specified [RCV004049188] |
Chr18:58536601 [GRCh38] Chr18:56203833 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2374T>C (p.Cys792Arg) |
single nucleotide variant |
not specified [RCV004063334] |
Chr18:58537813 [GRCh38] Chr18:56205045 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3814G>T (p.Val1272Phe) |
single nucleotide variant |
not specified [RCV004048144] |
Chr18:58536373 [GRCh38] Chr18:56203605 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1744G>C (p.Glu582Gln) |
single nucleotide variant |
not specified [RCV004061246] |
Chr18:58579032 [GRCh38] Chr18:56246264 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1010C>T (p.Thr337Met) |
single nucleotide variant |
not specified [RCV004048295] |
Chr18:58579766 [GRCh38] Chr18:56246998 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.124G>C (p.Glu42Gln) |
single nucleotide variant |
not specified [RCV004054638] |
Chr18:58607425 [GRCh38] Chr18:56274657 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.5727C>T (p.Tyr1909=) |
single nucleotide variant |
not specified [RCV004053756] |
Chr18:58517121 [GRCh38] Chr18:56184353 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5739C>T (p.Arg1913=) |
single nucleotide variant |
not specified [RCV004053767] |
Chr18:58517109 [GRCh38] Chr18:56184341 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2808C>A (p.Asn936Lys) |
single nucleotide variant |
not specified [RCV004062283] |
Chr18:58537379 [GRCh38] Chr18:56204611 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1453C>T (p.Leu485Phe) |
single nucleotide variant |
not specified [RCV004057923] |
Chr18:58579323 [GRCh38] Chr18:56246555 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4015C>T (p.Leu1339=) |
single nucleotide variant |
not specified [RCV004051130] |
Chr18:58536172 [GRCh38] Chr18:56203404 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2634C>T (p.Ser878=) |
single nucleotide variant |
not specified [RCV004063009] |
Chr18:58537553 [GRCh38] Chr18:56204785 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1458C>A (p.Asn486Lys) |
single nucleotide variant |
not specified [RCV004057939] |
Chr18:58579318 [GRCh38] Chr18:56246550 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3108T>C (p.Thr1036=) |
single nucleotide variant |
not specified [RCV004048356] |
Chr18:58537079 [GRCh38] Chr18:56204311 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.451G>A (p.Glu151Lys) |
single nucleotide variant |
not specified [RCV004051365] |
Chr18:58580325 [GRCh38] Chr18:56247557 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4538T>C (p.Ile1513Thr) |
single nucleotide variant |
not specified [RCV004051390] |
Chr18:58535649 [GRCh38] Chr18:56202881 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.78G>A (p.Lys26=) |
single nucleotide variant |
not specified [RCV004054769] |
Chr18:58611720 [GRCh38] Chr18:56278952 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.5908C>T (p.Leu1970Phe) |
single nucleotide variant |
not specified [RCV004054254] |
Chr18:58516940 [GRCh38] Chr18:56184172 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5916A>G (p.Gln1972=) |
single nucleotide variant |
not specified [RCV004054262] |
Chr18:58516932 [GRCh38] Chr18:56184164 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.294T>C (p.Cys98=) |
single nucleotide variant |
not specified [RCV004065329] |
Chr18:58580482 [GRCh38] Chr18:56247714 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2952T>C (p.Phe984=) |
single nucleotide variant |
not specified [RCV004065335] |
Chr18:58537235 [GRCh38] Chr18:56204467 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5937C>T (p.Ala1979=) |
single nucleotide variant |
not specified [RCV004054300] |
Chr18:58516911 [GRCh38] Chr18:56184143 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3219T>C (p.Leu1073=) |
single nucleotide variant |
not specified [RCV004048997] |
Chr18:58536968 [GRCh38] Chr18:56204200 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4853T>A (p.Val1618Asp) |
single nucleotide variant |
not specified [RCV004050101] |
Chr18:58535334 [GRCh38] Chr18:56202566 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4857A>G (p.Thr1619=) |
single nucleotide variant |
not specified [RCV004050105] |
Chr18:58535330 [GRCh38] Chr18:56202562 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1362T>C (p.Ala454=) |
single nucleotide variant |
not specified [RCV004058848] |
Chr18:58579414 [GRCh38] Chr18:56246646 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.795A>G (p.Lys265=) |
single nucleotide variant |
not specified [RCV004054807] |
Chr18:58579981 [GRCh38] Chr18:56247213 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1993A>G (p.Ile665Val) |
single nucleotide variant |
not specified [RCV004061687] |
Chr18:58538194 [GRCh38] Chr18:56205426 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.875A>G (p.Asn292Ser) |
single nucleotide variant |
not specified [RCV004056685] |
Chr18:58579901 [GRCh38] Chr18:56247133 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5967G>A (p.Arg1989=) |
single nucleotide variant |
not specified [RCV004052498] |
Chr18:58515055 [GRCh38] Chr18:56182287 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5785G>A (p.Val1929Ile) |
single nucleotide variant |
not specified [RCV004054084] |
Chr18:58517063 [GRCh38] Chr18:56184295 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1773T>G (p.Thr591=) |
single nucleotide variant |
not specified [RCV004061408] |
Chr18:58579003 [GRCh38] Chr18:56246235 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1597A>G (p.Lys533Glu) |
single nucleotide variant |
not specified [RCV004057384] |
Chr18:58579179 [GRCh38] Chr18:56246411 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.476G>A (p.Arg159Lys) |
single nucleotide variant |
not specified [RCV004052096] |
Chr18:58580300 [GRCh38] Chr18:56247532 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1365C>G (p.Pro455=) |
single nucleotide variant |
not specified [RCV004058860] |
Chr18:58579411 [GRCh38] Chr18:56246643 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4245C>G (p.Thr1415=) |
single nucleotide variant |
not specified [RCV004049824] |
Chr18:58535942 [GRCh38] Chr18:56203174 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1905G>A (p.Met635Ile) |
single nucleotide variant |
not specified [RCV004060789] |
Chr18:58578871 [GRCh38] Chr18:56246103 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1419C>T (p.His473=) |
single nucleotide variant |
not specified [RCV004057224] |
Chr18:58579357 [GRCh38] Chr18:56246589 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3495G>A (p.Glu1165=) |
single nucleotide variant |
not specified [RCV004048654] |
Chr18:58536692 [GRCh38] Chr18:56203924 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5982C>A (p.Ile1994=) |
single nucleotide variant |
not specified [RCV004052520] |
Chr18:58515040 [GRCh38] Chr18:56182272 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1647G>A (p.Pro549=) |
single nucleotide variant |
not specified [RCV004058169] |
Chr18:58579129 [GRCh38] Chr18:56246361 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3280G>A (p.Gly1094Ser) |
single nucleotide variant |
not specified [RCV004049442] |
Chr18:58536907 [GRCh38] Chr18:56204139 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3281G>T (p.Gly1094Val) |
single nucleotide variant |
not specified [RCV004049446] |
Chr18:58536906 [GRCh38] Chr18:56204138 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4093G>A (p.Gly1365Arg) |
single nucleotide variant |
not specified [RCV004051310] |
Chr18:58536094 [GRCh38] Chr18:56203326 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3340G>A (p.Val1114Met) |
single nucleotide variant |
not specified [RCV004047773] |
Chr18:58536847 [GRCh38] Chr18:56204079 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4772T>C (p.Ile1591Thr) |
single nucleotide variant |
not specified [RCV004052102] |
Chr18:58535415 [GRCh38] Chr18:56202647 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2153A>G (p.Gln718Arg) |
single nucleotide variant |
not specified [RCV004061041] |
Chr18:58538034 [GRCh38] Chr18:56205266 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3743T>C (p.Ile1248Thr) |
single nucleotide variant |
not specified [RCV004049811] |
Chr18:58536444 [GRCh38] Chr18:56203676 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.116C>T (p.Pro39Leu) |
single nucleotide variant |
not specified [RCV004049858] |
Chr18:58607433 [GRCh38] Chr18:56274665 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1376A>C (p.Glu459Ala) |
single nucleotide variant |
not specified [RCV004058910] |
Chr18:58579400 [GRCh38] Chr18:56246632 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5734G>T (p.Gly1912Cys) |
single nucleotide variant |
not specified [RCV004053765] |
Chr18:58517114 [GRCh38] Chr18:56184346 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5743C>T (p.Arg1915Cys) |
single nucleotide variant |
not specified [RCV004053783] |
Chr18:58517105 [GRCh38] Chr18:56184337 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2003G>C (p.Ser668Thr) |
single nucleotide variant |
not specified [RCV004059472] |
Chr18:58538184 [GRCh38] Chr18:56205416 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5942A>C (p.Glu1981Ala) |
single nucleotide variant |
not specified [RCV004054306] |
Chr18:58515080 [GRCh38] Chr18:56182312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.594C>T (p.His198=) |
single nucleotide variant |
not specified [RCV004052481] |
Chr18:58580182 [GRCh38] Chr18:56247414 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.405A>C (p.Glu135Asp) |
single nucleotide variant |
not specified [RCV004051224] |
Chr18:58580371 [GRCh38] Chr18:56247603 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5783G>A (p.Gly1928Glu) |
single nucleotide variant |
not specified [RCV004054082] |
Chr18:58517065 [GRCh38] Chr18:56184297 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5060G>C (p.Arg1687Thr) |
single nucleotide variant |
not specified [RCV004050965] |
Chr18:58535127 [GRCh38] Chr18:56202359 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1262G>T (p.Gly421Val) |
single nucleotide variant |
not specified [RCV004056159] |
Chr18:58579514 [GRCh38] Chr18:56246746 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6435T>C (p.Ile2145=) |
single nucleotide variant |
not specified [RCV004053985] |
Chr18:58481901 [GRCh38] Chr18:56149133 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1562G>C (p.Gly521Ala) |
single nucleotide variant |
not specified [RCV004059144] |
Chr18:58579214 [GRCh38] Chr18:56246446 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3340G>C (p.Val1114Leu) |
single nucleotide variant |
not specified [RCV004047774] |
Chr18:58536847 [GRCh38] Chr18:56204079 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2151A>G (p.Pro717=) |
single nucleotide variant |
not specified [RCV004061033] |
Chr18:58538036 [GRCh38] Chr18:56205268 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4218T>C (p.Ile1406=) |
single nucleotide variant |
not specified [RCV004051910] |
Chr18:58535969 [GRCh38] Chr18:56203201 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2414A>T (p.Glu805Val) |
single nucleotide variant |
not specified [RCV004063456] |
Chr18:58537773 [GRCh38] Chr18:56205005 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4226T>A (p.Ile1409Lys) |
single nucleotide variant |
not specified [RCV004051929] |
Chr18:58535961 [GRCh38] Chr18:56203193 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2417G>C (p.Cys806Ser) |
single nucleotide variant |
not specified [RCV004063467] |
Chr18:58537770 [GRCh38] Chr18:56205002 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1170C>T (p.Asp390=) |
single nucleotide variant |
not provided [RCV003408240]|not specified [RCV004049935] |
Chr18:58579606 [GRCh38] Chr18:56246838 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4293A>G (p.Arg1431=) |
single nucleotide variant |
not specified [RCV004049936] |
Chr18:58535894 [GRCh38] Chr18:56203126 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5234A>G (p.Lys1745Arg) |
single nucleotide variant |
not specified [RCV004052246] |
Chr18:58534953 [GRCh38] Chr18:56202185 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6181T>G (p.Cys2061Gly) |
single nucleotide variant |
not specified [RCV004053374] |
Chr18:58503997 [GRCh38] Chr18:56171229 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2923C>T (p.Pro975Ser) |
single nucleotide variant |
not specified [RCV004063168] |
Chr18:58537264 [GRCh38] Chr18:56204496 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3432G>A (p.Gln1144=) |
single nucleotide variant |
not specified [RCV004048519] |
Chr18:58536755 [GRCh38] Chr18:56203987 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.351G>A (p.Leu117=) |
single nucleotide variant |
not specified [RCV004048726] |
Chr18:58580425 [GRCh38] Chr18:56247657 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.939G>A (p.Glu313=) |
single nucleotide variant |
not specified [RCV004055728] |
Chr18:58579837 [GRCh38] Chr18:56247069 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.671A>C (p.Tyr224Ser) |
single nucleotide variant |
not specified [RCV004052743] |
Chr18:58580105 [GRCh38] Chr18:56247337 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2284A>C (p.Lys762Gln) |
single nucleotide variant |
not specified [RCV004062547] |
Chr18:58537903 [GRCh38] Chr18:56205135 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6145A>C (p.Asn2049His) |
single nucleotide variant |
not specified [RCV004053309] |
Chr18:58504033 [GRCh38] Chr18:56171265 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6148T>G (p.Phe2050Val) |
single nucleotide variant |
not specified [RCV004053312] |
Chr18:58504030 [GRCh38] Chr18:56171262 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.614C>A (p.Pro205Gln) |
single nucleotide variant |
not specified [RCV004053315] |
Chr18:58580162 [GRCh38] Chr18:56247394 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6498C>G (p.Gly2166=) |
single nucleotide variant |
not specified [RCV004054323] |
Chr18:58481838 [GRCh38] Chr18:56149070 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4824C>A (p.Phe1608Leu) |
single nucleotide variant |
not specified [RCV004052191] |
Chr18:58535363 [GRCh38] Chr18:56202595 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1026A>C (p.Ala342=) |
single nucleotide variant |
not specified [RCV004058270] |
Chr18:58579750 [GRCh38] Chr18:56246982 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1176G>T (p.Gly392=) |
single nucleotide variant |
not specified [RCV004050770] |
Chr18:58579600 [GRCh38] Chr18:56246832 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4483C>T (p.Leu1495=) |
single nucleotide variant |
not specified [RCV004050781] |
Chr18:58535704 [GRCh38] Chr18:56202936 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.466G>T (p.Gly156Cys) |
single nucleotide variant |
not specified [RCV004051607] |
Chr18:58580310 [GRCh38] Chr18:56247542 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1398A>G (p.Gln466=) |
single nucleotide variant |
not specified [RCV004057113] |
Chr18:58579378 [GRCh38] Chr18:56246610 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5878A>G (p.Ile1960Val) |
single nucleotide variant |
not specified [RCV004054217] |
Chr18:58516970 [GRCh38] Chr18:56184202 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5885A>G (p.Tyr1962Cys) |
single nucleotide variant |
not specified [RCV004054225] |
Chr18:58516963 [GRCh38] Chr18:56184195 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5888G>A (p.Gly1963Glu) |
single nucleotide variant |
not specified [RCV004599314] |
Chr18:58516960 [GRCh38] Chr18:56184192 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2904C>T (p.Ala968=) |
single nucleotide variant |
not specified [RCV004063112] |
Chr18:58537283 [GRCh38] Chr18:56204515 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1035A>G (p.Gln345=) |
single nucleotide variant |
not specified [RCV004057230] |
Chr18:58579741 [GRCh38] Chr18:56246973 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2972C>T (p.Thr991Ile) |
single nucleotide variant |
not specified [RCV004065404] |
Chr18:58537215 [GRCh38] Chr18:56204447 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1163C>T (p.Ser388Leu) |
single nucleotide variant |
not specified [RCV004051250] |
Chr18:58579613 [GRCh38] Chr18:56246845 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6002C>G (p.Pro2001Arg) |
single nucleotide variant |
not specified [RCV004052564] |
Chr18:58515020 [GRCh38] Chr18:56182252 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6003T>A (p.Pro2001=) |
single nucleotide variant |
not specified [RCV004052566] |
Chr18:58515019 [GRCh38] Chr18:56182251 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6003T>C (p.Pro2001=) |
single nucleotide variant |
not specified [RCV004052567] |
Chr18:58515019 [GRCh38] Chr18:56182251 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1659G>A (p.Leu553=) |
single nucleotide variant |
not specified [RCV004059759] |
Chr18:58579117 [GRCh38] Chr18:56246349 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.846C>T (p.His282=) |
single nucleotide variant |
not specified [RCV004056166] |
Chr18:58579930 [GRCh38] Chr18:56247162 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6444C>T (p.Ser2148=) |
single nucleotide variant |
not specified [RCV004053998] |
Chr18:58481892 [GRCh38] Chr18:56149124 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5081G>A (p.Arg1694Gln) |
single nucleotide variant |
not specified [RCV004050991] |
Chr18:58535106 [GRCh38] Chr18:56202338 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5081G>C (p.Arg1694Pro) |
single nucleotide variant |
not specified [RCV004050992] |
Chr18:58535106 [GRCh38] Chr18:56202338 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.327G>C (p.Glu109Asp) |
single nucleotide variant |
not specified [RCV004049440] |
Chr18:58580449 [GRCh38] Chr18:56247681 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4779T>C (p.Asn1593=) |
single nucleotide variant |
not specified [RCV004052106] |
Chr18:58535408 [GRCh38] Chr18:56202640 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4783C>T (p.Arg1595Cys) |
single nucleotide variant |
not specified [RCV004052122] |
Chr18:58535404 [GRCh38] Chr18:56202636 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1296T>G (p.Ile432Met) |
single nucleotide variant |
not specified [RCV004058219] |
Chr18:58579480 [GRCh38] Chr18:56246712 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4214C>T (p.Pro1405Leu) |
single nucleotide variant |
not specified [RCV004051905] |
Chr18:58535973 [GRCh38] Chr18:56203205 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2429G>A (p.Gly810Asp) |
single nucleotide variant |
not specified [RCV004063767] |
Chr18:58537758 [GRCh38] Chr18:56204990 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4438G>A (p.Glu1480Lys) |
single nucleotide variant |
not specified [RCV004050703] |
Chr18:58535749 [GRCh38] Chr18:56202981 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2216A>C (p.Tyr739Ser) |
single nucleotide variant |
not specified [RCV004061782] |
Chr18:58537971 [GRCh38] Chr18:56205203 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2216A>G (p.Tyr739Cys) |
single nucleotide variant |
not specified [RCV004061783] |
Chr18:58537971 [GRCh38] Chr18:56205203 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.940A>T (p.Ile314Leu) |
single nucleotide variant |
not specified [RCV004056782] |
Chr18:58579836 [GRCh38] Chr18:56247068 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2223G>C (p.Gln741His) |
single nucleotide variant |
not specified [RCV004061810] |
Chr18:58537964 [GRCh38] Chr18:56205196 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2226C>A (p.Ser742Arg) |
single nucleotide variant |
not specified [RCV004061815] |
Chr18:58537961 [GRCh38] Chr18:56205193 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4646C>T (p.Thr1549Ile) |
single nucleotide variant |
not specified [RCV004051571] |
Chr18:58535541 [GRCh38] Chr18:56202773 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4650C>T (p.His1550=) |
single nucleotide variant |
not specified [RCV004051576] |
Chr18:58535537 [GRCh38] Chr18:56202769 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1533T>C (p.Cys511=) |
single nucleotide variant |
not specified [RCV004058976] |
Chr18:58579243 [GRCh38] Chr18:56246475 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2303T>C (p.Phe768Ser) |
single nucleotide variant |
not specified [RCV004062627] |
Chr18:58537884 [GRCh38] Chr18:56205116 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4835C>T (p.Ser1612Leu) |
single nucleotide variant |
not specified [RCV004052210] |
Chr18:58535352 [GRCh38] Chr18:56202584 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4838C>A (p.Ser1613Tyr) |
single nucleotide variant |
not specified [RCV004052212] |
Chr18:58535349 [GRCh38] Chr18:56202581 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2906C>G (p.Ala969Gly) |
single nucleotide variant |
not specified [RCV004063119] |
Chr18:58537281 [GRCh38] Chr18:56204513 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5899A>G (p.Asn1967Asp) |
single nucleotide variant |
not specified [RCV004054233] |
Chr18:58516949 [GRCh38] Chr18:56184181 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5973T>C (p.Tyr1991=) |
single nucleotide variant |
not specified [RCV004052507] |
Chr18:58515049 [GRCh38] Chr18:56182281 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3496G>A (p.Glu1166Lys) |
single nucleotide variant |
not specified [RCV004048657] |
Chr18:58536691 [GRCh38] Chr18:56203923 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5975C>T (p.Ala1992Val) |
single nucleotide variant |
not specified [RCV004052508] |
Chr18:58515047 [GRCh38] Chr18:56182279 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.750T>C (p.Asp250=) |
single nucleotide variant |
not specified [RCV004056348] |
Chr18:58580026 [GRCh38] Chr18:56247258 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5803C>T (p.Arg1935Cys) |
single nucleotide variant |
not specified [RCV004054119] |
Chr18:58517045 [GRCh38] Chr18:56184277 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5804G>A (p.Arg1935His) |
single nucleotide variant |
not specified [RCV004054122] |
Chr18:58517044 [GRCh38] Chr18:56184276 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5806A>G (p.Ser1936Gly) |
single nucleotide variant |
not specified [RCV004054125] |
Chr18:58517042 [GRCh38] Chr18:56184274 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6072C>T (p.Ile2024=) |
single nucleotide variant |
not specified [RCV004052659] |
Chr18:58504106 [GRCh38] Chr18:56171338 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6075G>A (p.Pro2025=) |
single nucleotide variant |
not specified [RCV004052663] |
Chr18:58504103 [GRCh38] Chr18:56171335 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2487A>G (p.Lys829=) |
single nucleotide variant |
not specified [RCV004063983] |
Chr18:58537700 [GRCh38] Chr18:56204932 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6453A>G (p.Gln2151=) |
single nucleotide variant |
not specified [RCV004054007] |
Chr18:58481883 [GRCh38] Chr18:56149115 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5094G>A (p.Ser1698=) |
single nucleotide variant |
not specified [RCV004051004] |
Chr18:58535093 [GRCh38] Chr18:56202325 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1569G>T (p.Lys523Asn) |
single nucleotide variant |
not specified [RCV004059181] |
Chr18:58579207 [GRCh38] Chr18:56246439 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.156C>T (p.Ile52=) |
single nucleotide variant |
not specified [RCV004059187] |
Chr18:58607393 [GRCh38] Chr18:56274625 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.1299G>A (p.Leu433=) |
single nucleotide variant |
not specified [RCV004058233] |
Chr18:58579477 [GRCh38] Chr18:56246709 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1604C>T (p.Ala535Val) |
single nucleotide variant |
not specified [RCV004057434] |
Chr18:58579172 [GRCh38] Chr18:56246404 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1570G>C (p.Asp524His) |
single nucleotide variant |
not specified [RCV004059193] |
Chr18:58579206 [GRCh38] Chr18:56246438 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.705G>A (p.Val235=) |
single nucleotide variant |
not specified [RCV004055202] |
Chr18:58580071 [GRCh38] Chr18:56247303 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3474T>C (p.Pro1158=) |
single nucleotide variant |
not specified [RCV004048603] |
Chr18:58536713 [GRCh38] Chr18:56203945 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1992A>G (p.Thr664=) |
single nucleotide variant |
not specified [RCV004061682] |
Chr18:58538195 [GRCh38] Chr18:56205427 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.945C>A (p.Thr315=) |
single nucleotide variant |
not specified [RCV004056822] |
Chr18:58579831 [GRCh38] Chr18:56247063 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3538A>G (p.Arg1180Gly) |
single nucleotide variant |
not specified [RCV004049058] |
Chr18:58536649 [GRCh38] Chr18:56203881 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1041C>T (p.Asn347=) |
single nucleotide variant |
not specified [RCV004058597] |
Chr18:58579735 [GRCh38] Chr18:56246967 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1104G>A (p.Glu368=) |
single nucleotide variant |
not specified [RCV004062798] |
Chr18:58579672 [GRCh38] Chr18:56246904 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3121C>T (p.Pro1041Ser) |
single nucleotide variant |
not specified [RCV004048397] |
Chr18:58537066 [GRCh38] Chr18:56204298 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3125G>A (p.Arg1042His) |
single nucleotide variant |
not specified [RCV004048398] |
Chr18:58537062 [GRCh38] Chr18:56204294 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1513A>G (p.Asn505Asp) |
single nucleotide variant |
not specified [RCV004058609] |
Chr18:58579263 [GRCh38] Chr18:56246495 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2235A>C (p.Glu745Asp) |
single nucleotide variant |
not specified [RCV004061852] |
Chr18:58537952 [GRCh38] Chr18:56205184 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3165G>A (p.Val1055=) |
single nucleotide variant |
not specified [RCV004048810] |
Chr18:58537022 [GRCh38] Chr18:56204254 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2236G>A (p.Ala746Thr) |
single nucleotide variant |
not specified [RCV004061863] |
Chr18:58537951 [GRCh38] Chr18:56205183 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1443T>C (p.Ser481=) |
single nucleotide variant |
not specified [RCV004057871] |
Chr18:58579333 [GRCh38] Chr18:56246565 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1537G>C (p.Glu513Gln) |
single nucleotide variant |
not specified [RCV004058990] |
Chr18:58579239 [GRCh38] Chr18:56246471 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4671G>A (p.Thr1557=) |
single nucleotide variant |
not specified [RCV004051609] |
Chr18:58535516 [GRCh38] Chr18:56202748 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.824C>T (p.Pro275Leu) |
single nucleotide variant |
not specified [RCV004055571] |
Chr18:58579952 [GRCh38] Chr18:56247184 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1784C>G (p.Ser595Cys) |
single nucleotide variant |
not specified [RCV004061468] |
Chr18:58578992 [GRCh38] Chr18:56246224 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2507G>T (p.Cys836Phe) |
single nucleotide variant |
not specified [RCV004062042] |
Chr18:58537680 [GRCh38] Chr18:56204912 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.483T>A (p.Ala161=) |
single nucleotide variant |
not specified [RCV004052217] |
Chr18:58580293 [GRCh38] Chr18:56247525 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.217C>T (p.His73Tyr) |
single nucleotide variant |
not specified [RCV004061140] |
Chr18:58607332 [GRCh38] Chr18:56274564 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4500C>G (p.Gly1500=) |
single nucleotide variant |
not specified [RCV004050812] |
Chr18:58535687 [GRCh38] Chr18:56202919 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1284G>C (p.Gly428=) |
single nucleotide variant |
not specified [RCV004057719] |
Chr18:58579492 [GRCh38] Chr18:56246724 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5986G>A (p.Ala1996Thr) |
single nucleotide variant |
not specified [RCV004052522] |
Chr18:58515036 [GRCh38] Chr18:56182268 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5987C>T (p.Ala1996Val) |
single nucleotide variant |
not specified [RCV004052523] |
Chr18:58515035 [GRCh38] Chr18:56182267 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.87T>C (p.Ala29=) |
single nucleotide variant |
not specified [RCV004056728] |
Chr18:58611711 [GRCh38] Chr18:56278943 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.6483G>A (p.Gly2161=) |
single nucleotide variant |
not specified [RCV004054049] |
Chr18:58481853 [GRCh38] Chr18:56149085 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6486T>C (p.Pro2162=) |
single nucleotide variant |
ALPK2-related disorder [RCV003943374]|not specified [RCV004054310] |
Chr18:58481850 [GRCh38] Chr18:56149082 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6028G>A (p.Glu2010Lys) |
single nucleotide variant |
not specified [RCV004052598] |
Chr18:58514994 [GRCh38] Chr18:56182226 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4018G>A (p.Glu1340Lys) |
single nucleotide variant |
not specified [RCV004051135] |
Chr18:58536169 [GRCh38] Chr18:56203401 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.607T>C (p.Tyr203His) |
single nucleotide variant |
not specified [RCV004052675] |
Chr18:58580169 [GRCh38] Chr18:56247401 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6080C>T (p.Ala2027Val) |
single nucleotide variant |
not specified [RCV004052679] |
Chr18:58504098 [GRCh38] Chr18:56171330 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6083C>T (p.Thr2028Ile) |
single nucleotide variant |
not specified [RCV004052684] |
Chr18:58504095 [GRCh38] Chr18:56171327 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6084A>G (p.Thr2028=) |
single nucleotide variant |
not specified [RCV004052687] |
Chr18:58504094 [GRCh38] Chr18:56171326 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6087G>A (p.Val2029=) |
single nucleotide variant |
not specified [RCV004052692] |
Chr18:58504091 [GRCh38] Chr18:56171323 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6089A>G (p.Glu2030Gly) |
single nucleotide variant |
not specified [RCV004052694] |
Chr18:58504089 [GRCh38] Chr18:56171321 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.842C>G (p.Ala281Gly) |
single nucleotide variant |
not specified [RCV004056135] |
Chr18:58579934 [GRCh38] Chr18:56247166 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6095A>G (p.Glu2032Gly) |
single nucleotide variant |
not specified [RCV004052704] |
Chr18:58504083 [GRCh38] Chr18:56171315 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6097C>T (p.Leu2033=) |
single nucleotide variant |
not specified [RCV004052706] |
Chr18:58504081 [GRCh38] Chr18:56171313 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6467C>G (p.Thr2156Arg) |
single nucleotide variant |
not specified [RCV004054021] |
Chr18:58481869 [GRCh38] Chr18:56149101 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5568T>C (p.Tyr1856=) |
single nucleotide variant |
not specified [RCV004053245] |
Chr18:58523996 [GRCh38] Chr18:56191228 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.133T>C (p.Trp45Arg) |
single nucleotide variant |
not specified [RCV004058728] |
Chr18:58607416 [GRCh38] Chr18:56274648 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.3607G>A (p.Glu1203Lys) |
single nucleotide variant |
not specified [RCV004049227] |
Chr18:58536580 [GRCh38] Chr18:56203812 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3609A>C (p.Glu1203Asp) |
single nucleotide variant |
not specified [RCV004049229] |
Chr18:58536578 [GRCh38] Chr18:56203810 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1341G>A (p.Gly447=) |
single nucleotide variant |
not specified [RCV004058738] |
Chr18:58579435 [GRCh38] Chr18:56246667 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2058C>T (p.Thr686=) |
single nucleotide variant |
not specified [RCV004059667] |
Chr18:58538129 [GRCh38] Chr18:56205361 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2444G>A (p.Cys815Tyr) |
single nucleotide variant |
not specified [RCV004063838] |
Chr18:58537743 [GRCh38] Chr18:56204975 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3126T>C (p.Arg1042=) |
single nucleotide variant |
not specified [RCV004048399] |
Chr18:58537061 [GRCh38] Chr18:56204293 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1448A>G (p.Asn483Ser) |
single nucleotide variant |
not specified [RCV004057888] |
Chr18:58579328 [GRCh38] Chr18:56246560 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.825G>A (p.Pro275=) |
single nucleotide variant |
not specified [RCV004055579] |
Chr18:58579951 [GRCh38] Chr18:56247183 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4698C>T (p.Asp1566=) |
single nucleotide variant |
not specified [RCV004051993] |
Chr18:58535489 [GRCh38] Chr18:56202721 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3084T>C (p.Pro1028=) |
single nucleotide variant |
not specified [RCV004048274] |
Chr18:58537103 [GRCh38] Chr18:56204335 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1795G>A (p.Ala599Thr) |
single nucleotide variant |
not specified [RCV004059246] |
Chr18:58578981 [GRCh38] Chr18:56246213 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5137A>G (p.Arg1713Gly) |
single nucleotide variant |
not specified [RCV004051071] |
Chr18:58535050 [GRCh38] Chr18:56202282 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2514A>G (p.Val838=) |
single nucleotide variant |
not specified [RCV004062067] |
Chr18:58537673 [GRCh38] Chr18:56204905 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1144G>A (p.Gly382Ser) |
single nucleotide variant |
not specified [RCV004048691] |
Chr18:58579632 [GRCh38] Chr18:56246864 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2986A>G (p.Asn996Asp) |
single nucleotide variant |
not specified [RCV004065437] |
Chr18:58537201 [GRCh38] Chr18:56204433 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2208C>T (p.Asp736=) |
single nucleotide variant |
not specified [RCV004061760] |
Chr18:58537979 [GRCh38] Chr18:56205211 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6061G>C (p.Glu2021Gln) |
single nucleotide variant |
not specified [RCV004052649] |
Chr18:58504117 [GRCh38] Chr18:56171349 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.610G>A (p.Asp204Asn) |
single nucleotide variant |
not specified [RCV004053261] |
Chr18:58580166 [GRCh38] Chr18:56247398 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6114G>A (p.Val2038=) |
single nucleotide variant |
not specified [RCV004053268] |
Chr18:58504064 [GRCh38] Chr18:56171296 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6117G>A (p.Lys2039=) |
single nucleotide variant |
not specified [RCV004053270] |
Chr18:58504061 [GRCh38] Chr18:56171293 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1263T>C (p.Gly421=) |
single nucleotide variant |
not specified [RCV004056209] |
Chr18:58579513 [GRCh38] Chr18:56246745 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6472A>G (p.Lys2158Glu) |
single nucleotide variant |
not specified [RCV004054035] |
Chr18:58481864 [GRCh38] Chr18:56149096 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5117C>T (p.Thr1706Met) |
single nucleotide variant |
not specified [RCV004051037] |
Chr18:58535070 [GRCh38] Chr18:56202302 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1578G>C (p.Trp526Cys) |
single nucleotide variant |
not specified [RCV004057296] |
Chr18:58579198 [GRCh38] Chr18:56246430 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1301G>C (p.Gly434Ala) |
single nucleotide variant |
not specified [RCV004058256] |
Chr18:58579475 [GRCh38] Chr18:56246707 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.157G>A (p.Asp53Asn) |
single nucleotide variant |
not specified [RCV004057301] |
Chr18:58607392 [GRCh38] Chr18:56274624 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1710T>C (p.Ser570=) |
single nucleotide variant |
not specified [RCV004060571] |
Chr18:58579066 [GRCh38] Chr18:56246298 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4820G>A (p.Arg1607Lys) |
single nucleotide variant |
not specified [RCV004052188] |
Chr18:58535367 [GRCh38] Chr18:56202599 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.729G>A (p.Thr243=) |
single nucleotide variant |
not specified [RCV004055857] |
Chr18:58580047 [GRCh38] Chr18:56247279 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.729G>C (p.Thr243=) |
single nucleotide variant |
not specified [RCV004055860] |
Chr18:58580047 [GRCh38] Chr18:56247279 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.76A>G (p.Lys26Glu) |
single nucleotide variant |
not specified [RCV004054596] |
Chr18:58611722 [GRCh38] Chr18:56278954 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2061A>C (p.Thr687=) |
single nucleotide variant |
not specified [RCV004059680] |
Chr18:58538126 [GRCh38] Chr18:56205358 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.206T>C (p.Ile69Thr) |
single nucleotide variant |
not specified [RCV004059702] |
Chr18:58607343 [GRCh38] Chr18:56274575 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2073C>T (p.Phe691=) |
single nucleotide variant |
not specified [RCV004060231] |
Chr18:58538114 [GRCh38] Chr18:56205346 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2089G>T (p.Val697Phe) |
single nucleotide variant |
not specified [RCV004060290] |
Chr18:58538098 [GRCh38] Chr18:56205330 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2097G>A (p.Lys699=) |
single nucleotide variant |
not specified [RCV004060311] |
Chr18:58538090 [GRCh38] Chr18:56205322 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2597C>T (p.Thr866Ile) |
single nucleotide variant |
not specified [RCV004062870] |
Chr18:58537590 [GRCh38] Chr18:56204822 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.952T>A (p.Tyr318Asn) |
single nucleotide variant |
not specified [RCV004056890] |
Chr18:58579824 [GRCh38] Chr18:56247056 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2402T>C (p.Val801Ala) |
single nucleotide variant |
not specified [RCV004063420] |
Chr18:58537785 [GRCh38] Chr18:56205017 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1449T>C (p.Asn483=) |
single nucleotide variant |
not specified [RCV004057895] |
Chr18:58579327 [GRCh38] Chr18:56246559 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.144T>C (p.Asn48=) |
single nucleotide variant |
not specified [RCV004057904] |
Chr18:58607405 [GRCh38] Chr18:56274637 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.1037G>A (p.Arg346Lys) |
single nucleotide variant |
not specified [RCV004057907] |
Chr18:58579739 [GRCh38] Chr18:56246971 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1270T>G (p.Ser424Ala) |
single nucleotide variant |
not specified [RCV004054929] |
Chr18:58579506 [GRCh38] Chr18:56246738 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.828A>C (p.Leu276=) |
single nucleotide variant |
not specified [RCV004056003] |
Chr18:58579948 [GRCh38] Chr18:56247180 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.46T>C (p.Ser16Pro) |
single nucleotide variant |
not specified [RCV004052007] |
Chr18:58611752 [GRCh38] Chr18:56278984 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.690T>C (p.Cys230=) |
single nucleotide variant |
not specified [RCV004052952] |
Chr18:58580086 [GRCh38] Chr18:56247318 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3095A>C (p.His1032Pro) |
single nucleotide variant |
not specified [RCV004048300] |
Chr18:58537092 [GRCh38] Chr18:56204324 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2328T>G (p.Val776=) |
single nucleotide variant |
not specified [RCV004062706] |
Chr18:58537859 [GRCh38] Chr18:56205091 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.167G>A (p.Gly56Asp) |
single nucleotide variant |
not specified [RCV004059871] |
Chr18:58607382 [GRCh38] Chr18:56274614 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2519C>T (p.Thr840Met) |
single nucleotide variant |
not specified [RCV004062077] |
Chr18:58537668 [GRCh38] Chr18:56204900 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1973A>T (p.Gln658Leu) |
single nucleotide variant |
not specified [RCV004061601] |
Chr18:58538214 [GRCh38] Chr18:56205446 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6215C>T (p.Thr2072Ile) |
single nucleotide variant |
not specified [RCV004053399] |
Chr18:58503963 [GRCh38] Chr18:56171195 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1430A>C (p.Glu477Ala) |
single nucleotide variant |
not specified [RCV004057799] |
Chr18:58579346 [GRCh38] Chr18:56246578 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6133G>A (p.Gly2045Arg) |
single nucleotide variant |
not specified [RCV004053297] |
Chr18:58504045 [GRCh38] Chr18:56171277 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6144A>G (p.Ile2048Met) |
single nucleotide variant |
not specified [RCV004053306] |
Chr18:58504034 [GRCh38] Chr18:56171266 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1217A>G (p.Gln406Arg) |
single nucleotide variant |
not specified [RCV004053325] |
Chr18:58579559 [GRCh38] Chr18:56246791 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2499A>G (p.Gln833=) |
single nucleotide variant |
not specified [RCV004062005] |
Chr18:58537688 [GRCh38] Chr18:56204920 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1303C>T (p.Pro435Ser) |
single nucleotide variant |
not specified [RCV004058262] |
Chr18:58579473 [GRCh38] Chr18:56246705 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1026A>T (p.Ala342=) |
single nucleotide variant |
not specified [RCV004058283] |
Chr18:58579750 [GRCh38] Chr18:56246982 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4490C>A (p.Pro1497His) |
single nucleotide variant |
not specified [RCV004050793] |
Chr18:58535697 [GRCh38] Chr18:56202929 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.993A>G (p.Glu331=) |
single nucleotide variant |
not specified [RCV004057709] |
Chr18:58579783 [GRCh38] Chr18:56247015 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2075C>T (p.Ser692Leu) |
single nucleotide variant |
not specified [RCV004060237] |
Chr18:58538112 [GRCh38] Chr18:56205344 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2547A>G (p.Val849=) |
single nucleotide variant |
not specified [RCV004062174] |
Chr18:58537640 [GRCh38] Chr18:56204872 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1453C>A (p.Leu485Ile) |
single nucleotide variant |
not specified [RCV004057922] |
Chr18:58579323 [GRCh38] Chr18:56246555 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3186T>A (p.Ser1062Arg) |
single nucleotide variant |
not specified [RCV004048870] |
Chr18:58537001 [GRCh38] Chr18:56204233 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4013T>C (p.Leu1338Pro) |
single nucleotide variant |
not specified [RCV004051124] |
Chr18:58536174 [GRCh38] Chr18:56203406 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1382A>T (p.Asp461Val) |
single nucleotide variant |
not specified [RCV004057029] |
Chr18:58579394 [GRCh38] Chr18:56246626 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1730A>G (p.Gln577Arg) |
single nucleotide variant |
not specified [RCV004060682] |
Chr18:58579046 [GRCh38] Chr18:56246278 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1683C>G (p.Thr561=) |
single nucleotide variant |
not specified [RCV004059887] |
Chr18:58579093 [GRCh38] Chr18:56246325 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.839C>T (p.Thr280Ile) |
single nucleotide variant |
not specified [RCV004056108] |
Chr18:58579937 [GRCh38] Chr18:56247169 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4527C>T (p.Ser1509=) |
single nucleotide variant |
not specified [RCV004051373] |
Chr18:58535660 [GRCh38] Chr18:56202892 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3437G>A (p.Gly1146Asp) |
single nucleotide variant |
not specified [RCV004048523] |
Chr18:58536750 [GRCh38] Chr18:56203982 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2221C>G (p.Gln741Glu) |
single nucleotide variant |
not specified [RCV004061806] |
Chr18:58537966 [GRCh38] Chr18:56205198 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6157A>C (p.Arg2053=) |
single nucleotide variant |
not specified [RCV004053331] |
Chr18:58504021 [GRCh38] Chr18:56171253 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4650C>A (p.His1550Gln) |
single nucleotide variant |
not specified [RCV004051575] |
Chr18:58535537 [GRCh38] Chr18:56202769 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2304C>T (p.Phe768=) |
single nucleotide variant |
not specified [RCV004062628] |
Chr18:58537883 [GRCh38] Chr18:56205115 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4661G>C (p.Gly1554Ala) |
single nucleotide variant |
not specified [RCV004051593] |
Chr18:58535526 [GRCh38] Chr18:56202758 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3835C>T (p.Leu1279=) |
single nucleotide variant |
not specified [RCV004048181] |
Chr18:58536352 [GRCh38] Chr18:56203584 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1308C>A (p.His436Gln) |
single nucleotide variant |
not specified [RCV004058290] |
Chr18:58579468 [GRCh38] Chr18:56246700 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3844G>C (p.Asp1282His) |
single nucleotide variant |
not specified [RCV004048194] |
Chr18:58536343 [GRCh38] Chr18:56203575 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4500C>T (p.Gly1500=) |
single nucleotide variant |
not specified [RCV004050814] |
Chr18:58535687 [GRCh38] Chr18:56202919 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1731G>A (p.Gln577=) |
single nucleotide variant |
not specified [RCV004060685] |
Chr18:58579045 [GRCh38] Chr18:56246277 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4503T>G (p.Gly1501=) |
single nucleotide variant |
not specified [RCV004050819] |
Chr18:58535684 [GRCh38] Chr18:56202916 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.355G>T (p.Asp119Tyr) |
single nucleotide variant |
not specified [RCV004049125] |
Chr18:58580421 [GRCh38] Chr18:56247653 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3563G>A (p.Gly1188Asp) |
single nucleotide variant |
not specified [RCV004049134] |
Chr18:58536624 [GRCh38] Chr18:56203856 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2761C>G (p.Leu921Val) |
single nucleotide variant |
not specified [RCV004064149] |
Chr18:58537426 [GRCh38] Chr18:56204658 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5856T>C (p.Cys1952=) |
single nucleotide variant |
not specified [RCV004054195] |
Chr18:58516992 [GRCh38] Chr18:56184224 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3810C>A (p.Asp1270Glu) |
single nucleotide variant |
not specified [RCV004048139] |
Chr18:58536377 [GRCh38] Chr18:56203609 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3820G>C (p.Ala1274Pro) |
single nucleotide variant |
not specified [RCV004048157] |
Chr18:58536367 [GRCh38] Chr18:56203599 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3150A>G (p.Gln1050=) |
single nucleotide variant |
not specified [RCV004048471] |
Chr18:58537037 [GRCh38] Chr18:56204269 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2430T>A (p.Gly810=) |
single nucleotide variant |
not specified [RCV004063784] |
Chr18:58537757 [GRCh38] Chr18:56204989 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1098C>A (p.Phe366Leu) |
single nucleotide variant |
not specified [RCV004063789] |
Chr18:58579678 [GRCh38] Chr18:56246910 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1455C>T (p.Leu485=) |
single nucleotide variant |
not specified [RCV004057930] |
Chr18:58579321 [GRCh38] Chr18:56246553 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.964T>C (p.Phe322Leu) |
single nucleotide variant |
not specified [RCV004056985] |
Chr18:58579812 [GRCh38] Chr18:56247044 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3193A>G (p.Thr1065Ala) |
single nucleotide variant |
not specified [RCV004048897] |
Chr18:58536994 [GRCh38] Chr18:56204226 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4739A>G (p.Tyr1580Cys) |
single nucleotide variant |
not specified [RCV004052054] |
Chr18:58535448 [GRCh38] Chr18:56202680 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3107C>G (p.Thr1036Ser) |
single nucleotide variant |
not specified [RCV004048351] |
Chr18:58537080 [GRCh38] Chr18:56204312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2349T>C (p.Asp783=) |
single nucleotide variant |
not specified [RCV004063238] |
Chr18:58537838 [GRCh38] Chr18:56205070 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3113A>T (p.Glu1038Val) |
single nucleotide variant |
not specified [RCV004048375] |
Chr18:58537074 [GRCh38] Chr18:56204306 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1687C>T (p.His563Tyr) |
single nucleotide variant |
not specified [RCV004059913] |
Chr18:58579089 [GRCh38] Chr18:56246321 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1689T>A (p.His563Gln) |
single nucleotide variant |
not specified [RCV004059921] |
Chr18:58579087 [GRCh38] Chr18:56246319 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4546A>T (p.Ser1516Cys) |
single nucleotide variant |
not specified [RCV004051405] |
Chr18:58535641 [GRCh38] Chr18:56202873 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1251C>G (p.Val417=) |
single nucleotide variant |
not specified [RCV004054711] |
Chr18:58579525 [GRCh38] Chr18:56246757 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2572A>G (p.Lys858Glu) |
single nucleotide variant |
not specified [RCV004062785] |
Chr18:58537615 [GRCh38] Chr18:56204847 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2578C>T (p.Leu860=) |
single nucleotide variant |
not specified [RCV004062797] |
Chr18:58537609 [GRCh38] Chr18:56204841 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3540G>A (p.Arg1180=) |
single nucleotide variant |
not specified [RCV004049075] |
Chr18:58536647 [GRCh38] Chr18:56203879 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3543A>G (p.Glu1181=) |
single nucleotide variant |
not specified [RCV004049082] |
Chr18:58536644 [GRCh38] Chr18:56203876 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2584G>A (p.Val862Ile) |
single nucleotide variant |
not specified [RCV004062821] |
Chr18:58537603 [GRCh38] Chr18:56204835 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1036A>T (p.Arg346Trp) |
single nucleotide variant |
not specified [RCV004057843] |
Chr18:58579740 [GRCh38] Chr18:56246972 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.222C>G (p.Leu74=) |
single nucleotide variant |
not specified [RCV004061830] |
Chr18:58607327 [GRCh38] Chr18:56274559 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.1043T>C (p.Leu348Pro) |
single nucleotide variant |
not specified [RCV004058999] |
Chr18:58579733 [GRCh38] Chr18:56246965 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2311C>G (p.Pro771Ala) |
single nucleotide variant |
not specified [RCV004062656] |
Chr18:58537876 [GRCh38] Chr18:56205108 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2311C>T (p.Pro771Ser) |
single nucleotide variant |
not specified [RCV004062657] |
Chr18:58537876 [GRCh38] Chr18:56205108 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2714G>A (p.Gly905Asp) |
single nucleotide variant |
not specified [RCV004063734] |
Chr18:58537473 [GRCh38] Chr18:56204705 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1377A>C (p.Glu459Asp) |
single nucleotide variant |
not specified [RCV004058917] |
Chr18:58579399 [GRCh38] Chr18:56246631 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2779G>A (p.Ala927Thr) |
single nucleotide variant |
not specified [RCV004064194] |
Chr18:58537408 [GRCh38] Chr18:56204640 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1963G>T (p.Val655Leu) |
single nucleotide variant |
not specified [RCV004061556] |
Chr18:58538224 [GRCh38] Chr18:56205456 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6170C>T (p.Ala2057Val) |
single nucleotide variant |
not specified [RCV004053355] |
Chr18:58504008 [GRCh38] Chr18:56171240 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3855G>T (p.Val1285=) |
single nucleotide variant |
not specified [RCV004048218] |
Chr18:58536332 [GRCh38] Chr18:56203564 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2630A>T (p.Lys877Ile) |
single nucleotide variant |
not specified [RCV004062993] |
Chr18:58537557 [GRCh38] Chr18:56204789 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2436A>C (p.Gln812His) |
single nucleotide variant |
not specified [RCV004599394] |
Chr18:58537751 [GRCh38] Chr18:56204983 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1459A>G (p.Met487Val) |
single nucleotide variant |
not specified [RCV004057944] |
Chr18:58579317 [GRCh38] Chr18:56246549 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3213G>A (p.Glu1071=) |
single nucleotide variant |
not specified [RCV004048977] |
Chr18:58536974 [GRCh38] Chr18:56204206 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3197T>C (p.Ile1066Thr) |
single nucleotide variant |
not specified [RCV004048911] |
Chr18:58536990 [GRCh38] Chr18:56204222 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3225G>A (p.Arg1075=) |
single nucleotide variant |
not specified [RCV004049024] |
Chr18:58536962 [GRCh38] Chr18:56204194 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4749T>C (p.Pro1583=) |
single nucleotide variant |
not specified [RCV004052064] |
Chr18:58535438 [GRCh38] Chr18:56202670 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2354C>T (p.Ala785Val) |
single nucleotide variant |
not specified [RCV004063260] |
Chr18:58537833 [GRCh38] Chr18:56205065 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3305A>T (p.Gln1102Leu) |
single nucleotide variant |
not specified [RCV004049509] |
Chr18:58536882 [GRCh38] Chr18:56204114 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5181A>G (p.Val1727=) |
single nucleotide variant |
not specified [RCV004051647] |
Chr18:58535006 [GRCh38] Chr18:56202238 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1695C>T (p.Cys565=) |
single nucleotide variant |
not specified [RCV004059963] |
Chr18:58579081 [GRCh38] Chr18:56246313 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4553A>G (p.Asp1518Gly) |
single nucleotide variant |
not specified [RCV004051418] |
Chr18:58535634 [GRCh38] Chr18:56202866 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4557G>A (p.Gly1519=) |
single nucleotide variant |
not specified [RCV004051422] |
Chr18:58535630 [GRCh38] Chr18:56202862 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6397C>T (p.Leu2133Phe) |
single nucleotide variant |
not specified [RCV004053927] |
Chr18:58481939 [GRCh38] Chr18:56149171 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3462A>G (p.Gln1154=) |
single nucleotide variant |
not specified [RCV004048579] |
Chr18:58536725 [GRCh38] Chr18:56203957 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1492C>T (p.Leu498Phe) |
single nucleotide variant |
not specified [RCV004058505] |
Chr18:58579284 [GRCh38] Chr18:56246516 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.930T>C (p.Leu310=) |
single nucleotide variant |
not specified [RCV004055673] |
Chr18:58579846 [GRCh38] Chr18:56247078 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2589T>G (p.Phe863Leu) |
single nucleotide variant |
not specified [RCV004062841] |
Chr18:58537598 [GRCh38] Chr18:56204830 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.125A>G (p.Glu42Gly) |
single nucleotide variant |
not specified [RCV004055577] |
Chr18:58607424 [GRCh38] Chr18:56274656 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.825G>T (p.Pro275=) |
single nucleotide variant |
not specified [RCV004055580] |
Chr18:58579951 [GRCh38] Chr18:56247183 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1541C>T (p.Thr514Met) |
single nucleotide variant |
not specified [RCV004059022] |
Chr18:58579235 [GRCh38] Chr18:56246467 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2313T>C (p.Pro771=) |
single nucleotide variant |
not specified [RCV004062661] |
Chr18:58537874 [GRCh38] Chr18:56205106 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2720C>A (p.Thr907Lys) |
single nucleotide variant |
not specified [RCV004064009] |
Chr18:58537467 [GRCh38] Chr18:56204699 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2512G>A (p.Val838Ile) |
single nucleotide variant |
not specified [RCV004062063] |
Chr18:58537675 [GRCh38] Chr18:56204907 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4511T>C (p.Ile1504Thr) |
single nucleotide variant |
not specified [RCV004050832] |
Chr18:58535676 [GRCh38] Chr18:56202908 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3426G>A (p.Leu1142=) |
single nucleotide variant |
not specified [RCV004047991] |
Chr18:58536761 [GRCh38] Chr18:56203993 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1410A>C (p.Arg470Ser) |
single nucleotide variant |
not specified [RCV004057179] |
Chr18:58579366 [GRCh38] Chr18:56246598 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3862T>C (p.Leu1288=) |
single nucleotide variant |
not specified [RCV004048241] |
Chr18:58536325 [GRCh38] Chr18:56203557 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3911A>T (p.Glu1304Val) |
single nucleotide variant |
not specified [RCV004050383] |
Chr18:58536276 [GRCh38] Chr18:56203508 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2810C>T (p.Ser937Leu) |
single nucleotide variant |
not specified [RCV004062294] |
Chr18:58537377 [GRCh38] Chr18:56204609 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.335A>G (p.Gln112Arg) |
single nucleotide variant |
not specified [RCV004047816] |
Chr18:58580441 [GRCh38] Chr18:56247673 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3944A>G (p.Lys1315Arg) |
single nucleotide variant |
not specified [RCV004050446] |
Chr18:58536243 [GRCh38] Chr18:56203475 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3948C>T (p.Gly1316=) |
single nucleotide variant |
not specified [RCV004050452] |
Chr18:58536239 [GRCh38] Chr18:56203471 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4033C>A (p.Pro1345Thr) |
single nucleotide variant |
not specified [RCV004051170] |
Chr18:58536154 [GRCh38] Chr18:56203386 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.321A>T (p.Ser107=) |
single nucleotide variant |
not specified [RCV004049001] |
Chr18:58580455 [GRCh38] Chr18:56247687 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4403G>C (p.Ser1468Thr) |
single nucleotide variant |
not specified [RCV004050637] |
Chr18:58535784 [GRCh38] Chr18:56203016 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5763G>A (p.Glu1921=) |
single nucleotide variant |
not specified [RCV004054061] |
Chr18:58517085 [GRCh38] Chr18:56184317 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6394T>C (p.Ser2132Pro) |
single nucleotide variant |
not specified [RCV004053925] |
Chr18:58481942 [GRCh38] Chr18:56149174 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5030C>T (p.Thr1677Ile) |
single nucleotide variant |
not specified [RCV004050916] |
Chr18:58535157 [GRCh38] Chr18:56202389 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1391G>A (p.Gly464Glu) |
single nucleotide variant |
not specified [RCV004057095] |
Chr18:58579385 [GRCh38] Chr18:56246617 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3244G>A (p.Val1082Ile) |
single nucleotide variant |
not specified [RCV004049331] |
Chr18:58536943 [GRCh38] Chr18:56204175 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2145T>C (p.Cys715=) |
single nucleotide variant |
not specified [RCV004061008] |
Chr18:58538042 [GRCh38] Chr18:56205274 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1241G>A (p.Ser414Asn) |
single nucleotide variant |
not specified [RCV004055921] |
Chr18:58579535 [GRCh38] Chr18:56246767 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2361C>T (p.Thr787=) |
single nucleotide variant |
not specified [RCV004063295] |
Chr18:58537826 [GRCh38] Chr18:56205058 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1584G>C (p.Lys528Asn) |
single nucleotide variant |
not specified [RCV004057324] |
Chr18:58579192 [GRCh38] Chr18:56246424 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1586G>C (p.Arg529Thr) |
single nucleotide variant |
not specified [RCV004057332] |
Chr18:58579190 [GRCh38] Chr18:56246422 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3316C>T (p.Leu1106=) |
single nucleotide variant |
not specified [RCV004049538] |
Chr18:58536871 [GRCh38] Chr18:56204103 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5197T>C (p.Ser1733Pro) |
single nucleotide variant |
not specified [RCV004051668] |
Chr18:58534990 [GRCh38] Chr18:56202222 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4564G>C (p.Gly1522Arg) |
single nucleotide variant |
not specified [RCV004051433] |
Chr18:58535623 [GRCh38] Chr18:56202855 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4565G>C (p.Gly1522Ala) |
single nucleotide variant |
not specified [RCV004051434] |
Chr18:58535622 [GRCh38] Chr18:56202854 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1359T>C (p.Thr453=) |
single nucleotide variant |
not specified [RCV004058829] |
Chr18:58579417 [GRCh38] Chr18:56246649 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2050A>G (p.Thr684Ala) |
single nucleotide variant |
not specified [RCV004059643] |
Chr18:58538137 [GRCh38] Chr18:56205369 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2441C>T (p.Thr814Met) |
single nucleotide variant |
not specified [RCV004063826] |
Chr18:58537746 [GRCh38] Chr18:56204978 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3475A>G (p.Thr1159Ala) |
single nucleotide variant |
not specified [RCV004048604] |
Chr18:58536712 [GRCh38] Chr18:56203944 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3476C>G (p.Thr1159Arg) |
single nucleotide variant |
not specified [RCV004048607] |
Chr18:58536711 [GRCh38] Chr18:56203943 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3477G>C (p.Thr1159=) |
single nucleotide variant |
not specified [RCV004048611] |
Chr18:58536710 [GRCh38] Chr18:56203942 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3487G>A (p.Ala1163Thr) |
single nucleotide variant |
not specified [RCV004048640] |
Chr18:58536700 [GRCh38] Chr18:56203932 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3135T>C (p.His1045=) |
single nucleotide variant |
not specified [RCV004048428] |
Chr18:58537052 [GRCh38] Chr18:56204284 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3137A>G (p.Glu1046Gly) |
single nucleotide variant |
not specified [RCV004048434] |
Chr18:58537050 [GRCh38] Chr18:56204282 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.954C>T (p.Tyr318=) |
single nucleotide variant |
not specified [RCV004056898] |
Chr18:58579822 [GRCh38] Chr18:56247054 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1545A>G (p.Ala515=) |
single nucleotide variant |
not specified [RCV004059032] |
Chr18:58579231 [GRCh38] Chr18:56246463 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.699G>A (p.Lys233=) |
single nucleotide variant |
not specified [RCV004055094] |
Chr18:58580077 [GRCh38] Chr18:56247309 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4713C>A (p.Asp1571Glu) |
single nucleotide variant |
not specified [RCV004052018] |
Chr18:58535474 [GRCh38] Chr18:56202706 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4715T>G (p.Ile1572Arg) |
single nucleotide variant |
not specified [RCV004052023] |
Chr18:58535472 [GRCh38] Chr18:56202704 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2331T>C (p.Ala777=) |
single nucleotide variant |
not specified [RCV004062712] |
Chr18:58537856 [GRCh38] Chr18:56205088 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2519C>G (p.Thr840Arg) |
single nucleotide variant |
not specified [RCV004062076] |
Chr18:58537668 [GRCh38] Chr18:56204900 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4513C>T (p.Pro1505Ser) |
single nucleotide variant |
not specified [RCV004050837] |
Chr18:58535674 [GRCh38] Chr18:56202906 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4521A>T (p.Gly1507=) |
single nucleotide variant |
not specified [RCV004051367] |
Chr18:58535666 [GRCh38] Chr18:56202898 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1976A>G (p.Glu659Gly) |
single nucleotide variant |
not specified [RCV004061617] |
Chr18:58538211 [GRCh38] Chr18:56205443 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3437G>C (p.Gly1146Ala) |
single nucleotide variant |
not specified [RCV004599286] |
Chr18:58536750 [GRCh38] Chr18:56203982 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.58T>C (p.Ser20Pro) |
single nucleotide variant |
not specified [RCV004054243] |
Chr18:58611740 [GRCh38] Chr18:56278972 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2252T>C (p.Met751Thr) |
single nucleotide variant |
not specified [RCV004061917] |
Chr18:58537935 [GRCh38] Chr18:56205167 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1011G>A (p.Thr337=) |
single nucleotide variant |
not specified [RCV004047953] |
Chr18:58579765 [GRCh38] Chr18:56246997 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.395A>G (p.His132Arg) |
single nucleotide variant |
not specified [RCV004050474] |
Chr18:58580381 [GRCh38] Chr18:56247613 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2256C>T (p.Ser752=) |
single nucleotide variant |
not specified [RCV004061933] |
Chr18:58537931 [GRCh38] Chr18:56205163 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.970G>T (p.Asp324Tyr) |
single nucleotide variant |
not specified [RCV004057549] |
Chr18:58579806 [GRCh38] Chr18:56247038 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1617G>C (p.Gln539His) |
single nucleotide variant |
not specified [RCV004057496] |
Chr18:58579159 [GRCh38] Chr18:56246391 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1460T>G (p.Met487Arg) |
single nucleotide variant |
ALPK2-related disorder [RCV003926385]|not specified [RCV004057962] |
Chr18:58579316 [GRCh38] Chr18:56246548 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.3247C>A (p.Pro1083Thr) |
single nucleotide variant |
not specified [RCV004049338] |
Chr18:58536940 [GRCh38] Chr18:56204172 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.908A>C (p.Asp303Ala) |
single nucleotide variant |
not specified [RCV004054978] |
Chr18:58579868 [GRCh38] Chr18:56247100 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6405C>T (p.Asn2135=) |
single nucleotide variant |
not specified [RCV004053950] |
Chr18:58481931 [GRCh38] Chr18:56149163 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5046A>G (p.Lys1682=) |
single nucleotide variant |
not specified [RCV004050937] |
Chr18:58535141 [GRCh38] Chr18:56202373 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3319T>C (p.Ser1107Pro) |
single nucleotide variant |
not specified [RCV004049548] |
Chr18:58536868 [GRCh38] Chr18:56204100 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.657T>A (p.Asn219Lys) |
single nucleotide variant |
not specified [RCV004054429] |
Chr18:58580119 [GRCh38] Chr18:56247351 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2372T>C (p.Val791Ala) |
single nucleotide variant |
not specified [RCV004063324] |
Chr18:58537815 [GRCh38] Chr18:56205047 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1364C>T (p.Pro455Leu) |
single nucleotide variant |
not specified [RCV004058856] |
Chr18:58579412 [GRCh38] Chr18:56246644 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2062A>G (p.Thr688Ala) |
single nucleotide variant |
not specified [RCV004059686] |
Chr18:58538125 [GRCh38] Chr18:56205357 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1348A>G (p.Lys450Glu) |
single nucleotide variant |
not specified [RCV004058768] |
Chr18:58579428 [GRCh38] Chr18:56246660 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2469T>C (p.Val823=) |
single nucleotide variant |
not specified [RCV004063920] |
Chr18:58537718 [GRCh38] Chr18:56204950 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2476C>T (p.Pro826Ser) |
single nucleotide variant |
not specified [RCV004063947] |
Chr18:58537711 [GRCh38] Chr18:56204943 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2477C>A (p.Pro826Gln) |
single nucleotide variant |
not specified [RCV004063950] |
Chr18:58537710 [GRCh38] Chr18:56204942 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2070C>T (p.Ser690=) |
single nucleotide variant |
not specified [RCV004059707] |
Chr18:58538117 [GRCh38] Chr18:56205349 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2088G>T (p.Gly696=) |
single nucleotide variant |
ALPK2-related disorder [RCV003961041]|not provided [RCV004703272]|not specified [RCV004060288] |
Chr18:58538099 [GRCh38] Chr18:56205331 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2408C>T (p.Ala803Val) |
single nucleotide variant |
not specified [RCV004063437] |
Chr18:58537779 [GRCh38] Chr18:56205011 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2601A>T (p.Gln867His) |
single nucleotide variant |
not specified [RCV004062898] |
Chr18:58537586 [GRCh38] Chr18:56204818 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3141G>T (p.Lys1047Asn) |
single nucleotide variant |
not specified [RCV004048453] |
Chr18:58537046 [GRCh38] Chr18:56204278 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3145T>G (p.Ser1049Ala) |
single nucleotide variant |
not specified [RCV004048460] |
Chr18:58537042 [GRCh38] Chr18:56204274 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.127G>A (p.Val43Ile) |
single nucleotide variant |
not specified [RCV004056961] |
Chr18:58607422 [GRCh38] Chr18:56274654 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4723C>G (p.Pro1575Ala) |
single nucleotide variant |
not specified [RCV004052037] |
Chr18:58535464 [GRCh38] Chr18:56202696 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4729A>G (p.Lys1577Glu) |
single nucleotide variant |
not specified [RCV004052041] |
Chr18:58535458 [GRCh38] Chr18:56202690 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3101G>A (p.Gly1034Asp) |
single nucleotide variant |
not specified [RCV004048341] |
Chr18:58537086 [GRCh38] Chr18:56204318 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2341C>T (p.Pro781Ser) |
single nucleotide variant |
not specified [RCV004062744] |
Chr18:58537846 [GRCh38] Chr18:56205078 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.896T>G (p.Leu299Arg) |
single nucleotide variant |
not specified [RCV004054898] |
Chr18:58579880 [GRCh38] Chr18:56247112 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5164C>T (p.His1722Tyr) |
single nucleotide variant |
not specified [RCV004051623] |
Chr18:58535023 [GRCh38] Chr18:56202255 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4523G>A (p.Cys1508Tyr) |
single nucleotide variant |
not specified [RCV004051370] |
Chr18:58535664 [GRCh38] Chr18:56202896 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1618C>G (p.Pro540Ala) |
single nucleotide variant |
not specified [RCV004057500] |
Chr18:58579158 [GRCh38] Chr18:56246390 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1288A>T (p.Thr430Ser) |
single nucleotide variant |
not specified [RCV004057783] |
Chr18:58579488 [GRCh38] Chr18:56246720 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4532G>A (p.Gly1511Asp) |
single nucleotide variant |
not specified [RCV004051381] |
Chr18:58535655 [GRCh38] Chr18:56202887 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1791T>C (p.Ala597=) |
single nucleotide variant |
not specified [RCV004059229] |
Chr18:58578985 [GRCh38] Chr18:56246217 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4533C>T (p.Gly1511=) |
single nucleotide variant |
not specified [RCV004051383] |
Chr18:58535654 [GRCh38] Chr18:56202886 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4536A>T (p.Gln1512His) |
single nucleotide variant |
not specified [RCV004051386] |
Chr18:58535651 [GRCh38] Chr18:56202883 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3459C>T (p.Phe1153=) |
single nucleotide variant |
not specified [RCV004048566] |
Chr18:58536728 [GRCh38] Chr18:56203960 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1491G>A (p.Lys497=) |
single nucleotide variant |
not specified [RCV004058501] |
Chr18:58579285 [GRCh38] Chr18:56246517 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3467G>C (p.Ser1156Thr) |
single nucleotide variant |
ALPK2-related disorder [RCV003960998]|not specified [RCV004048586] |
Chr18:58536720 [GRCh38] Chr18:56203952 [GRCh37] Chr18:18q21.31 |
likely benign|uncertain significance |
NM_052947.4(ALPK2):c.5922C>G (p.Asn1974Lys) |
single nucleotide variant |
not specified [RCV004054273] |
Chr18:58516926 [GRCh38] Chr18:56184158 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.748G>C (p.Asp250His) |
single nucleotide variant |
not specified [RCV004056328] |
Chr18:58580028 [GRCh38] Chr18:56247260 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5931C>T (p.Leu1977=) |
single nucleotide variant |
ALPK2-related disorder [RCV003903680]|not specified [RCV004054289] |
Chr18:58516917 [GRCh38] Chr18:56184149 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2955T>C (p.Pro985=) |
single nucleotide variant |
not specified [RCV004065343] |
Chr18:58537232 [GRCh38] Chr18:56204464 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3983T>C (p.Leu1328Pro) |
single nucleotide variant |
not specified [RCV004050532] |
Chr18:58536204 [GRCh38] Chr18:56203436 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3589G>T (p.Ala1197Ser) |
single nucleotide variant |
not specified [RCV004049193] |
Chr18:58536598 [GRCh38] Chr18:56203830 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2261G>A (p.Gly754Asp) |
single nucleotide variant |
not specified [RCV004061957] |
Chr18:58537926 [GRCh38] Chr18:56205158 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4050G>A (p.Glu1350=) |
single nucleotide variant |
not specified [RCV004051206] |
Chr18:58536137 [GRCh38] Chr18:56203369 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4051T>G (p.Leu1351Val) |
single nucleotide variant |
not specified [RCV004051207] |
Chr18:58536136 [GRCh38] Chr18:56203368 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2263G>T (p.Val755Leu) |
single nucleotide variant |
not specified [RCV004061967] |
Chr18:58537924 [GRCh38] Chr18:56205156 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4416A>C (p.Glu1472Asp) |
single nucleotide variant |
not specified [RCV004050660] |
Chr18:58535771 [GRCh38] Chr18:56203003 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1109G>T (p.Cys370Phe) |
single nucleotide variant |
not specified [RCV004063601] |
Chr18:58579667 [GRCh38] Chr18:56246899 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1641G>A (p.Lys547=) |
single nucleotide variant |
not specified [RCV004058141] |
Chr18:58579135 [GRCh38] Chr18:56246367 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4077G>A (p.Ala1359=) |
single nucleotide variant |
not specified [RCV004051271] |
Chr18:58536110 [GRCh38] Chr18:56203342 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3250C>T (p.His1084Tyr) |
single nucleotide variant |
not specified [RCV004049353] |
Chr18:58536937 [GRCh38] Chr18:56204169 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3255T>C (p.His1085=) |
single nucleotide variant |
not specified [RCV004049365] |
Chr18:58536932 [GRCh38] Chr18:56204164 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5055G>A (p.Arg1685=) |
single nucleotide variant |
not specified [RCV004050954] |
Chr18:58535132 [GRCh38] Chr18:56202364 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5059A>G (p.Arg1687Gly) |
single nucleotide variant |
not specified [RCV004050958] |
Chr18:58535128 [GRCh38] Chr18:56202360 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1038G>T (p.Arg346Ser) |
single nucleotide variant |
not specified [RCV004057990] |
Chr18:58579738 [GRCh38] Chr18:56246970 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1560G>C (p.Val520=) |
single nucleotide variant |
not specified [RCV004059129] |
Chr18:58579216 [GRCh38] Chr18:56246448 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4203C>G (p.Ser1401=) |
single nucleotide variant |
not specified [RCV004051881] |
Chr18:58535984 [GRCh38] Chr18:56203216 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2557T>C (p.Cys853Arg) |
single nucleotide variant |
not specified [RCV004062208] |
Chr18:58537630 [GRCh38] Chr18:56204862 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5207C>T (p.Ala1736Val) |
single nucleotide variant |
not specified [RCV004051695] |
Chr18:58534980 [GRCh38] Chr18:56202212 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.661A>G (p.Ser221Gly) |
single nucleotide variant |
not specified [RCV004054469] |
Chr18:58580115 [GRCh38] Chr18:56247347 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.486C>T (p.Asp162=) |
single nucleotide variant |
not specified [RCV004050127] |
Chr18:58580290 [GRCh38] Chr18:56247522 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4242C>T (p.Tyr1414=) |
single nucleotide variant |
not specified [RCV004051958] |
Chr18:58535945 [GRCh38] Chr18:56203177 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4247G>T (p.Arg1416Met) |
single nucleotide variant |
not specified [RCV004049828] |
Chr18:58535940 [GRCh38] Chr18:56203172 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.424G>A (p.Glu142Lys) |
single nucleotide variant |
not specified [RCV004049841] |
Chr18:58580352 [GRCh38] Chr18:56247584 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5565C>A (p.Leu1855=) |
single nucleotide variant |
not specified [RCV004053243] |
Chr18:58523999 [GRCh38] Chr18:56191231 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2323T>C (p.Ser775Pro) |
single nucleotide variant |
not specified [RCV004062688] |
Chr18:58537864 [GRCh38] Chr18:56205096 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2106A>G (p.Ala702=) |
single nucleotide variant |
not specified [RCV004060341] |
Chr18:58538081 [GRCh38] Chr18:56205313 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2610G>A (p.Glu870=) |
single nucleotide variant |
not specified [RCV004062927] |
Chr18:58537577 [GRCh38] Chr18:56204809 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2610G>C (p.Glu870Asp) |
single nucleotide variant |
not specified [RCV004062928] |
Chr18:58537577 [GRCh38] Chr18:56204809 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4017G>A (p.Leu1339=) |
single nucleotide variant |
not specified [RCV004051134] |
Chr18:58536170 [GRCh38] Chr18:56203402 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3216A>G (p.Leu1072=) |
single nucleotide variant |
not specified [RCV004048985] |
Chr18:58536971 [GRCh38] Chr18:56204203 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1136G>A (p.Ser379Asn) |
single nucleotide variant |
not specified [RCV004049463] |
Chr18:58579640 [GRCh38] Chr18:56246872 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2355C>T (p.Ala785=) |
single nucleotide variant |
not specified [RCV004063262] |
Chr18:58537832 [GRCh38] Chr18:56205064 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1736A>T (p.Asp579Val) |
single nucleotide variant |
not specified [RCV004060705] |
Chr18:58579040 [GRCh38] Chr18:56246272 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5172T>C (p.Ala1724=) |
single nucleotide variant |
not specified [RCV004051637] |
Chr18:58535015 [GRCh38] Chr18:56202247 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1799G>A (p.Arg600Lys) |
single nucleotide variant |
not specified [RCV004059261] |
Chr18:58578977 [GRCh38] Chr18:56246209 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2185A>T (p.Ile729Leu) |
single nucleotide variant |
not specified [RCV004061159] |
Chr18:58538002 [GRCh38] Chr18:56205234 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1416C>T (p.Ser472=) |
single nucleotide variant |
not specified [RCV004057206] |
Chr18:58579360 [GRCh38] Chr18:56246592 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4056T>G (p.Ser1352=) |
single nucleotide variant |
not specified [RCV004051216] |
Chr18:58536131 [GRCh38] Chr18:56203363 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5991T>C (p.Ala1997=) |
single nucleotide variant |
not specified [RCV004052534] |
Chr18:58515031 [GRCh38] Chr18:56182263 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4421G>T (p.Ser1474Ile) |
single nucleotide variant |
not specified [RCV004050674] |
Chr18:58535766 [GRCh38] Chr18:56202998 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.578T>C (p.Val193Ala) |
single nucleotide variant |
not specified [RCV004054091] |
Chr18:58580198 [GRCh38] Chr18:56247430 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3262C>A (p.Gln1088Lys) |
single nucleotide variant |
not specified [RCV004049389] |
Chr18:58536925 [GRCh38] Chr18:56204157 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5791C>G (p.Arg1931Gly) |
single nucleotide variant |
not specified [RCV004054093] |
Chr18:58517057 [GRCh38] Chr18:56184289 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6431G>A (p.Ser2144Asn) |
single nucleotide variant |
not specified [RCV004053982] |
Chr18:58481905 [GRCh38] Chr18:56149137 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1562G>A (p.Gly521Glu) |
single nucleotide variant |
not specified [RCV004059142] |
Chr18:58579214 [GRCh38] Chr18:56246446 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2564C>T (p.Ser855Phe) |
single nucleotide variant |
not specified [RCV004062240] |
Chr18:58537623 [GRCh38] Chr18:56204855 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4257A>G (p.Lys1419=) |
single nucleotide variant |
not specified [RCV004049851] |
Chr18:58535930 [GRCh38] Chr18:56203162 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1347T>C (p.Tyr449=) |
single nucleotide variant |
not specified [RCV004058766] |
Chr18:58579429 [GRCh38] Chr18:56246661 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2064A>G (p.Thr688=) |
single nucleotide variant |
not specified [RCV004059688] |
Chr18:58538123 [GRCh38] Chr18:56205355 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1095A>G (p.Glu365=) |
single nucleotide variant |
not specified [RCV004063328] |
Chr18:58579681 [GRCh38] Chr18:56246913 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3816C>T (p.Val1272=) |
single nucleotide variant |
not specified [RCV004048145] |
Chr18:58536371 [GRCh38] Chr18:56203603 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.242A>G (p.Asp81Gly) |
single nucleotide variant |
not specified [RCV004063775] |
Chr18:58580534 [GRCh38] Chr18:56247766 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3895A>C (p.Ser1299Arg) |
single nucleotide variant |
not specified [RCV004599291] |
Chr18:58536292 [GRCh38] Chr18:56203524 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.315G>A (p.Glu105=) |
single nucleotide variant |
not specified [RCV004048502] |
Chr18:58580461 [GRCh38] Chr18:56247693 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3191C>T (p.Ala1064Val) |
single nucleotide variant |
not specified [RCV004048892] |
Chr18:58536996 [GRCh38] Chr18:56204228 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4024T>C (p.Ser1342Pro) |
single nucleotide variant |
not specified [RCV004051150] |
Chr18:58536163 [GRCh38] Chr18:56203395 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3210A>G (p.Lys1070=) |
single nucleotide variant |
not specified [RCV004048967] |
Chr18:58536977 [GRCh38] Chr18:56204209 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3198C>T (p.Ile1066=) |
single nucleotide variant |
not specified [RCV004048914] |
Chr18:58536989 [GRCh38] Chr18:56204221 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3229C>T (p.Pro1077Ser) |
single nucleotide variant |
not specified [RCV004049033] |
Chr18:58536958 [GRCh38] Chr18:56204190 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1696T>C (p.Ser566Pro) |
single nucleotide variant |
not specified [RCV004060484] |
Chr18:58579080 [GRCh38] Chr18:56246312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.134G>C (p.Trp45Ser) |
single nucleotide variant |
not specified [RCV004058782] |
Chr18:58607415 [GRCh38] Chr18:56274647 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1078G>A (p.Asp360Asn) |
single nucleotide variant |
ALPK2-related disorder [RCV003971296]|not specified [RCV004060243] |
Chr18:58579698 [GRCh38] Chr18:56246930 [GRCh37] Chr18:18q21.31 |
likely benign|uncertain significance |
NM_052947.4(ALPK2):c.875A>T (p.Asn292Ile) |
single nucleotide variant |
not specified [RCV004056686] |
Chr18:58579901 [GRCh38] Chr18:56247133 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3991C>T (p.Arg1331Trp) |
single nucleotide variant |
not specified [RCV004050550] |
Chr18:58536196 [GRCh38] Chr18:56203428 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6010G>A (p.Gly2004Ser) |
single nucleotide variant |
not specified [RCV004052578] |
Chr18:58515012 [GRCh38] Chr18:56182244 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3278A>T (p.Glu1093Val) |
single nucleotide variant |
not specified [RCV004049426] |
Chr18:58536909 [GRCh38] Chr18:56204141 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.327G>A (p.Glu109=) |
single nucleotide variant |
not specified [RCV004049434] |
Chr18:58580449 [GRCh38] Chr18:56247681 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.507C>T (p.Asn169=) |
single nucleotide variant |
not specified [RCV004050985] |
Chr18:58580269 [GRCh38] Chr18:56247501 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3345C>T (p.Asp1115=) |
single nucleotide variant |
not specified [RCV004047785] |
Chr18:58536842 [GRCh38] Chr18:56204074 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4794T>C (p.Pro1598=) |
single nucleotide variant |
not specified [RCV004052146] |
Chr18:58535393 [GRCh38] Chr18:56202625 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4224G>C (p.Glu1408Asp) |
single nucleotide variant |
not specified [RCV004051924] |
Chr18:58535963 [GRCh38] Chr18:56203195 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2413G>A (p.Glu805Lys) |
single nucleotide variant |
not specified [RCV004063455] |
Chr18:58537774 [GRCh38] Chr18:56205006 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4239G>A (p.Glu1413=) |
single nucleotide variant |
not specified [RCV004051946] |
Chr18:58535948 [GRCh38] Chr18:56203180 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2430T>C (p.Gly810=) |
single nucleotide variant |
not specified [RCV004063785] |
Chr18:58537757 [GRCh38] Chr18:56204989 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.423T>C (p.Asp141=) |
single nucleotide variant |
not specified [RCV004051956] |
Chr18:58580353 [GRCh38] Chr18:56247585 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.48T>C (p.Ser16=) |
single nucleotide variant |
not specified [RCV004050192] |
Chr18:58611750 [GRCh38] Chr18:56278982 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.4272A>G (p.Glu1424=) |
single nucleotide variant |
not specified [RCV004049886] |
Chr18:58535915 [GRCh38] Chr18:56203147 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1078G>T (p.Asp360Tyr) |
single nucleotide variant |
not specified [RCV004060258] |
Chr18:58579698 [GRCh38] Chr18:56246930 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3700A>G (p.Asn1234Asp) |
single nucleotide variant |
not specified [RCV004049705] |
Chr18:58536487 [GRCh38] Chr18:56203719 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2796A>T (p.Pro932=) |
single nucleotide variant |
not specified [RCV004064243] |
Chr18:58537391 [GRCh38] Chr18:56204623 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3837A>G (p.Leu1279=) |
single nucleotide variant |
not specified [RCV004048183] |
Chr18:58536350 [GRCh38] Chr18:56203582 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3847G>A (p.Ala1283Thr) |
single nucleotide variant |
not specified [RCV004048199] |
Chr18:58536340 [GRCh38] Chr18:56203572 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3856C>G (p.Pro1286Ala) |
single nucleotide variant |
not specified [RCV004048223] |
Chr18:58536331 [GRCh38] Chr18:56203563 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.334C>A (p.Gln112Lys) |
single nucleotide variant |
not specified [RCV004047793] |
Chr18:58580442 [GRCh38] Chr18:56247674 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.944C>T (p.Thr315Ile) |
single nucleotide variant |
not specified [RCV004056812] |
Chr18:58579832 [GRCh38] Chr18:56247064 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3920T>C (p.Leu1307Pro) |
single nucleotide variant |
not specified [RCV004050400] |
Chr18:58536267 [GRCh38] Chr18:56203499 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.945C>T (p.Thr315=) |
single nucleotide variant |
not specified [RCV004056827] |
Chr18:58579831 [GRCh38] Chr18:56247063 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3357T>C (p.Phe1119=) |
single nucleotide variant |
not specified [RCV004047812] |
Chr18:58536830 [GRCh38] Chr18:56204062 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3239C>T (p.Pro1080Leu) |
single nucleotide variant |
not specified [RCV004049315] |
Chr18:58536948 [GRCh38] Chr18:56204180 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5033T>C (p.Leu1678Pro) |
single nucleotide variant |
not specified [RCV004050919] |
Chr18:58535154 [GRCh38] Chr18:56202386 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5037C>A (p.Gly1679=) |
single nucleotide variant |
not specified [RCV004050924] |
Chr18:58535150 [GRCh38] Chr18:56202382 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3246C>T (p.Val1082=) |
single nucleotide variant |
not specified [RCV004049333] |
Chr18:58536941 [GRCh38] Chr18:56204173 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1632A>G (p.Gly544=) |
single nucleotide variant |
not specified [RCV004058083] |
Chr18:58579144 [GRCh38] Chr18:56246376 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1363C>T (p.Pro455Ser) |
single nucleotide variant |
not specified [RCV004058853] |
Chr18:58579413 [GRCh38] Chr18:56246645 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2533G>C (p.Gly845Arg) |
single nucleotide variant |
not specified [RCV004062131] |
Chr18:58537654 [GRCh38] Chr18:56204886 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3711G>T (p.Lys1237Asn) |
single nucleotide variant |
not specified [RCV004049738] |
Chr18:58536476 [GRCh38] Chr18:56203708 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2558G>A (p.Cys853Tyr) |
single nucleotide variant |
not specified [RCV004062210] |
Chr18:58537629 [GRCh38] Chr18:56204861 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3791G>T (p.Gly1264Val) |
single nucleotide variant |
not specified [RCV004048093] |
Chr18:58536396 [GRCh38] Chr18:56203628 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5820C>T (p.His1940=) |
single nucleotide variant |
not specified [RCV004054143] |
Chr18:58517028 [GRCh38] Chr18:56184260 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.274T>C (p.Ser92Pro) |
single nucleotide variant |
not specified [RCV004064105] |
Chr18:58580502 [GRCh38] Chr18:56247734 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2973A>G (p.Thr991=) |
single nucleotide variant |
not specified [RCV004065406] |
Chr18:58537214 [GRCh38] Chr18:56204446 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3042C>T (p.Ala1014=) |
single nucleotide variant |
not specified [RCV004066362] |
Chr18:58537145 [GRCh38] Chr18:56204377 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6023T>C (p.Val2008Ala) |
single nucleotide variant |
not specified [RCV004599316] |
Chr18:58514999 [GRCh38] Chr18:56182231 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3045C>T (p.Thr1015=) |
single nucleotide variant |
not specified [RCV004066371] |
Chr18:58537142 [GRCh38] Chr18:56204374 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5802C>T (p.Phe1934=) |
single nucleotide variant |
not specified [RCV004054116] |
Chr18:58517046 [GRCh38] Chr18:56184278 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2708G>C (p.Ser903Thr) |
single nucleotide variant |
not specified [RCV004063711] |
Chr18:58537479 [GRCh38] Chr18:56204711 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6079G>A (p.Ala2027Thr) |
single nucleotide variant |
not specified [RCV004052668] |
Chr18:58504099 [GRCh38] Chr18:56171331 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6441A>G (p.Lys2147=) |
single nucleotide variant |
not specified [RCV004053996] |
Chr18:58481895 [GRCh38] Chr18:56149127 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6445A>G (p.Lys2149Glu) |
single nucleotide variant |
not specified [RCV004053999] |
Chr18:58481891 [GRCh38] Chr18:56149123 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.915C>T (p.Asp305=) |
single nucleotide variant |
not specified [RCV004055043] |
Chr18:58579861 [GRCh38] Chr18:56247093 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5086G>T (p.Gly1696Cys) |
single nucleotide variant |
not specified [RCV004050998] |
Chr18:58535101 [GRCh38] Chr18:56202333 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1604C>A (p.Ala535Asp) |
single nucleotide variant |
not specified [RCV004057431] |
Chr18:58579172 [GRCh38] Chr18:56246404 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.702A>C (p.Thr234=) |
single nucleotide variant |
not specified [RCV004055158] |
Chr18:58580074 [GRCh38] Chr18:56247306 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4277C>A (p.Thr1426Lys) |
single nucleotide variant |
not specified [RCV004049892] |
Chr18:58535910 [GRCh38] Chr18:56203142 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4925C>A (p.Pro1642His) |
single nucleotide variant |
not specified [RCV004050232] |
Chr18:58535262 [GRCh38] Chr18:56202494 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4927C>T (p.Pro1643Ser) |
single nucleotide variant |
not specified [RCV004050236] |
Chr18:58535260 [GRCh38] Chr18:56202492 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4284G>C (p.Gln1428His) |
single nucleotide variant |
not specified [RCV004049913] |
Chr18:58535903 [GRCh38] Chr18:56203135 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5213T>C (p.Leu1738Pro) |
single nucleotide variant |
not specified [RCV004051706] |
Chr18:58534974 [GRCh38] Chr18:56202206 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2556A>G (p.Leu852=) |
single nucleotide variant |
not specified [RCV004062201] |
Chr18:58537631 [GRCh38] Chr18:56204863 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3732C>T (p.Ser1244=) |
single nucleotide variant |
not specified [RCV004049787] |
Chr18:58536455 [GRCh38] Chr18:56203687 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3793G>A (p.Gly1265Ser) |
single nucleotide variant |
not specified [RCV004048098] |
Chr18:58536394 [GRCh38] Chr18:56203626 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2751C>T (p.Ser917=) |
single nucleotide variant |
not specified [RCV004064109] |
Chr18:58537436 [GRCh38] Chr18:56204668 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2800C>T (p.Pro934Ser) |
single nucleotide variant |
not specified [RCV004062262] |
Chr18:58537387 [GRCh38] Chr18:56204619 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2805C>T (p.Ser935=) |
single nucleotide variant |
not specified [RCV004062279] |
Chr18:58537382 [GRCh38] Chr18:56204614 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3919C>T (p.Leu1307Phe) |
single nucleotide variant |
not specified [RCV004050393] |
Chr18:58536268 [GRCh38] Chr18:56203500 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3870C>T (p.Pro1290=) |
single nucleotide variant |
not specified [RCV004048769] |
Chr18:58536317 [GRCh38] Chr18:56203549 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3871T>A (p.Ser1291Thr) |
single nucleotide variant |
not specified [RCV004048772] |
Chr18:58536316 [GRCh38] Chr18:56203548 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3359G>A (p.Arg1120Lys) |
single nucleotide variant |
not specified [RCV004047815] |
Chr18:58536828 [GRCh38] Chr18:56204060 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3946G>A (p.Gly1316Ser) |
single nucleotide variant |
not specified [RCV004050450] |
Chr18:58536241 [GRCh38] Chr18:56203473 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3951A>G (p.Glu1317=) |
single nucleotide variant |
not specified [RCV004050466] |
Chr18:58536236 [GRCh38] Chr18:56203468 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2252T>A (p.Met751Lys) |
single nucleotide variant |
not specified [RCV004061915] |
Chr18:58537935 [GRCh38] Chr18:56205167 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3978A>G (p.Arg1326=) |
single nucleotide variant |
not specified [RCV004050518] |
Chr18:58536209 [GRCh38] Chr18:56203441 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3462A>C (p.Gln1154His) |
single nucleotide variant |
not specified [RCV004048578] |
Chr18:58536725 [GRCh38] Chr18:56203957 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1611G>A (p.Val537=) |
single nucleotide variant |
not specified [RCV004057471] |
Chr18:58579165 [GRCh38] Chr18:56246397 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4410C>G (p.Ser1470Arg) |
single nucleotide variant |
not specified [RCV004050652] |
Chr18:58535777 [GRCh38] Chr18:56203009 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3206C>G (p.Thr1069Arg) |
single nucleotide variant |
not specified [RCV004048948] |
Chr18:58536981 [GRCh38] Chr18:56204213 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6409A>C (p.Asn2137His) |
single nucleotide variant |
not specified [RCV004053953] |
Chr18:58481927 [GRCh38] Chr18:56149159 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3322G>A (p.Gly1108Arg) |
single nucleotide variant |
not specified [RCV004049559] |
Chr18:58536865 [GRCh38] Chr18:56204097 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3328A>G (p.Lys1110Glu) |
single nucleotide variant |
not specified [RCV004047745] |
Chr18:58536859 [GRCh38] Chr18:56204091 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1558G>A (p.Val520Met) |
single nucleotide variant |
ALPK2-related disorder [RCV003943393]|not specified [RCV004059109] |
Chr18:58579218 [GRCh38] Chr18:56246450 [GRCh37] Chr18:18q21.31 |
likely benign|uncertain significance |
NM_052947.4(ALPK2):c.3549A>C (p.Ala1183=) |
single nucleotide variant |
not specified [RCV004049092] |
Chr18:58536638 [GRCh38] Chr18:56203870 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2551G>C (p.Asp851His) |
single nucleotide variant |
not specified [RCV004062192] |
Chr18:58537636 [GRCh38] Chr18:56204868 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4248G>A (p.Arg1416=) |
single nucleotide variant |
not specified [RCV004049831] |
Chr18:58535939 [GRCh38] Chr18:56203171 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4248G>C (p.Arg1416Ser) |
single nucleotide variant |
not specified [RCV004049832] |
Chr18:58535939 [GRCh38] Chr18:56203171 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5877C>T (p.Ala1959=) |
single nucleotide variant |
not specified [RCV004054216] |
Chr18:58516971 [GRCh38] Chr18:56184203 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2777A>G (p.His926Arg) |
single nucleotide variant |
not specified [RCV004064191] |
Chr18:58537410 [GRCh38] Chr18:56204642 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.721A>G (p.Lys241Glu) |
single nucleotide variant |
not specified [RCV004055771] |
Chr18:58580055 [GRCh38] Chr18:56247287 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3500G>T (p.Arg1167Ile) |
single nucleotide variant |
not specified [RCV004048677] |
Chr18:58536687 [GRCh38] Chr18:56203919 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2201G>T (p.Arg734Met) |
single nucleotide variant |
not specified [RCV004061734] |
Chr18:58537986 [GRCh38] Chr18:56205218 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6036T>C (p.Ile2012=) |
single nucleotide variant |
not specified [RCV004052609] |
Chr18:58504142 [GRCh38] Chr18:56171374 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6038C>T (p.Pro2013Leu) |
single nucleotide variant |
not specified [RCV004052611] |
Chr18:58504140 [GRCh38] Chr18:56171372 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.603G>A (p.Glu201=) |
single nucleotide variant |
not specified [RCV004052620] |
Chr18:58580173 [GRCh38] Chr18:56247405 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4033C>T (p.Pro1345Ser) |
single nucleotide variant |
not specified [RCV004051171] |
Chr18:58536154 [GRCh38] Chr18:56203386 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6052C>T (p.His2018Tyr) |
single nucleotide variant |
not specified [RCV004052635] |
Chr18:58504126 [GRCh38] Chr18:56171358 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1215A>C (p.Ser405=) |
single nucleotide variant |
not specified [RCV004052637] |
Chr18:58579561 [GRCh38] Chr18:56246793 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6082A>G (p.Thr2028Ala) |
single nucleotide variant |
not specified [RCV004052681] |
Chr18:58504096 [GRCh38] Chr18:56171328 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6083C>A (p.Thr2028Lys) |
single nucleotide variant |
not specified [RCV004052683] |
Chr18:58504095 [GRCh38] Chr18:56171327 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6091G>A (p.Glu2031Lys) |
single nucleotide variant |
not specified [RCV004052699] |
Chr18:58504087 [GRCh38] Chr18:56171319 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6455C>T (p.Thr2152Ile) |
single nucleotide variant |
not specified [RCV004054008] |
Chr18:58481881 [GRCh38] Chr18:56149113 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.848T>C (p.Ile283Thr) |
single nucleotide variant |
not specified [RCV004056182] |
Chr18:58579928 [GRCh38] Chr18:56247160 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6457A>C (p.Asn2153His) |
single nucleotide variant |
not specified [RCV004054009] |
Chr18:58481879 [GRCh38] Chr18:56149111 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5095C>T (p.Pro1699Ser) |
single nucleotide variant |
not specified [RCV004051005] |
Chr18:58535092 [GRCh38] Chr18:56202324 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6459C>T (p.Asn2153=) |
single nucleotide variant |
ALPK2-related disorder [RCV003903683]|not specified [RCV004054012] |
Chr18:58481877 [GRCh38] Chr18:56149109 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.1083C>T (p.Asp361=) |
single nucleotide variant |
not specified [RCV004061086] |
Chr18:58579693 [GRCh38] Chr18:56246925 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4453G>C (p.Glu1485Gln) |
single nucleotide variant |
not specified [RCV004050725] |
Chr18:58535734 [GRCh38] Chr18:56202966 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4299G>T (p.Gly1433=) |
single nucleotide variant |
not specified [RCV004049941] |
Chr18:58535888 [GRCh38] Chr18:56203120 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1197C>T (p.Gly399=) |
single nucleotide variant |
not specified [RCV004052257] |
Chr18:58579579 [GRCh38] Chr18:56246811 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5241T>C (p.Asn1747=) |
single nucleotide variant |
not specified [RCV004052264] |
Chr18:58534946 [GRCh38] Chr18:56202178 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5249A>G (p.Lys1750Arg) |
single nucleotide variant |
not specified [RCV004052272] |
Chr18:58534938 [GRCh38] Chr18:56202170 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5847C>G (p.Gly1949=) |
single nucleotide variant |
not specified [RCV004054181] |
Chr18:58517001 [GRCh38] Chr18:56184233 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5904T>A (p.Asp1968Glu) |
single nucleotide variant |
not specified [RCV004054249] |
Chr18:58516944 [GRCh38] Chr18:56184176 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3968T>G (p.Val1323Gly) |
single nucleotide variant |
not specified [RCV004050499] |
Chr18:58536219 [GRCh38] Chr18:56203451 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2258C>T (p.Pro753Leu) |
single nucleotide variant |
not specified [RCV004061937] |
Chr18:58537929 [GRCh38] Chr18:56205161 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3588G>A (p.Val1196=) |
single nucleotide variant |
not specified [RCV004049191] |
Chr18:58536599 [GRCh38] Chr18:56203831 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2674A>G (p.Ser892Gly) |
single nucleotide variant |
not specified [RCV004063603] |
Chr18:58537513 [GRCh38] Chr18:56204745 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1770G>A (p.Ala590=) |
single nucleotide variant |
not specified [RCV004061397] |
Chr18:58579006 [GRCh38] Chr18:56246238 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6413A>G (p.Gln2138Arg) |
single nucleotide variant |
not specified [RCV004053960] |
Chr18:58481923 [GRCh38] Chr18:56149155 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.244G>A (p.Ala82Thr) |
single nucleotide variant |
not specified [RCV004063861] |
Chr18:58580532 [GRCh38] Chr18:56247764 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5054G>C (p.Arg1685Thr) |
single nucleotide variant |
not specified [RCV004050952] |
Chr18:58535133 [GRCh38] Chr18:56202365 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.505A>G (p.Asn169Asp) |
single nucleotide variant |
not specified [RCV004050960] |
Chr18:58580271 [GRCh38] Chr18:56247503 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.325G>C (p.Glu109Gln) |
single nucleotide variant |
not specified [RCV004049381] |
Chr18:58580451 [GRCh38] Chr18:56247683 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1560G>T (p.Val520=) |
single nucleotide variant |
not specified [RCV004059131] |
Chr18:58579216 [GRCh38] Chr18:56246448 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2149C>A (p.Pro717Thr) |
single nucleotide variant |
not specified [RCV004061020] |
Chr18:58538038 [GRCh38] Chr18:56205270 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5203G>A (p.Val1735Met) |
single nucleotide variant |
not specified [RCV004051691] |
Chr18:58534984 [GRCh38] Chr18:56202216 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4210G>T (p.Asp1404Tyr) |
single nucleotide variant |
not specified [RCV004051900] |
Chr18:58535977 [GRCh38] Chr18:56203209 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4900G>A (p.Val1634Met) |
single nucleotide variant |
not specified [RCV004050194] |
Chr18:58535287 [GRCh38] Chr18:56202519 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4285G>A (p.Gly1429Ser) |
single nucleotide variant |
not specified [RCV004049915] |
Chr18:58535902 [GRCh38] Chr18:56203134 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4285G>T (p.Gly1429Cys) |
single nucleotide variant |
not specified [RCV004049916] |
Chr18:58535902 [GRCh38] Chr18:56203134 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4287C>T (p.Gly1429=) |
single nucleotide variant |
not specified [RCV004049919] |
Chr18:58535900 [GRCh38] Chr18:56203132 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5889G>A (p.Gly1963=) |
single nucleotide variant |
not specified [RCV004054227] |
Chr18:58516959 [GRCh38] Chr18:56184191 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2905G>A (p.Ala969Thr) |
single nucleotide variant |
not specified [RCV004063116] |
Chr18:58537282 [GRCh38] Chr18:56204514 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2202G>A (p.Arg734=) |
single nucleotide variant |
not specified [RCV004061738] |
Chr18:58537985 [GRCh38] Chr18:56205217 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2985T>C (p.Asn995=) |
single nucleotide variant |
not specified [RCV004065435] |
Chr18:58537202 [GRCh38] Chr18:56204434 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6501A>T (p.Glu2167Asp) |
single nucleotide variant |
not specified [RCV004054335] |
Chr18:58481835 [GRCh38] Chr18:56149067 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2988T>C (p.Asn996=) |
single nucleotide variant |
not specified [RCV004065447] |
Chr18:58537199 [GRCh38] Chr18:56204431 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6507A>T (p.Lys2169Asn) |
single nucleotide variant |
not specified [RCV004054339] |
Chr18:58481829 [GRCh38] Chr18:56149061 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1020T>C (p.Ser340=) |
single nucleotide variant |
not specified [RCV004056400] |
Chr18:58579756 [GRCh38] Chr18:56246988 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2274G>C (p.Arg758Ser) |
single nucleotide variant |
not specified [RCV004062519] |
Chr18:58537913 [GRCh38] Chr18:56205145 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6101T>C (p.Ile2034Thr) |
single nucleotide variant |
not specified [RCV004052734] |
Chr18:58504077 [GRCh38] Chr18:56171309 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.84C>T (p.Asp28=) |
single nucleotide variant |
not specified [RCV004056195] |
Chr18:58611714 [GRCh38] Chr18:56278946 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.2490T>C (p.Tyr830=) |
single nucleotide variant |
not specified [RCV004061983] |
Chr18:58537697 [GRCh38] Chr18:56204929 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5103C>A (p.Thr1701=) |
single nucleotide variant |
not specified [RCV004051019] |
Chr18:58535084 [GRCh38] Chr18:56202316 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5107A>G (p.Thr1703Ala) |
single nucleotide variant |
not specified [RCV004051022] |
Chr18:58535080 [GRCh38] Chr18:56202312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2492C>T (p.Ser831Leu) |
single nucleotide variant |
not specified [RCV004061986] |
Chr18:58537695 [GRCh38] Chr18:56204927 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4465A>G (p.Thr1489Ala) |
single nucleotide variant |
not specified [RCV004050747] |
Chr18:58535722 [GRCh38] Chr18:56202954 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4472T>C (p.Ile1491Thr) |
single nucleotide variant |
not specified [RCV004050762] |
Chr18:58535715 [GRCh38] Chr18:56202947 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.767G>C (p.Gly256Ala) |
single nucleotide variant |
not specified [RCV004054578] |
Chr18:58580009 [GRCh38] Chr18:56247241 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5250G>A (p.Lys1750=) |
single nucleotide variant |
not specified [RCV004052280] |
Chr18:58534937 [GRCh38] Chr18:56202169 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5253C>T (p.Asn1751=) |
single nucleotide variant |
not specified [RCV004052284] |
Chr18:58534934 [GRCh38] Chr18:56202166 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5258C>T (p.Ala1753Val) |
single nucleotide variant |
not specified [RCV004052287] |
Chr18:58534929 [GRCh38] Chr18:56202161 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5865G>A (p.Lys1955=) |
single nucleotide variant |
not specified [RCV004054202] |
Chr18:58516983 [GRCh38] Chr18:56184215 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2953C>T (p.Pro985Ser) |
single nucleotide variant |
not specified [RCV004065337] |
Chr18:58537234 [GRCh38] Chr18:56204466 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2955T>A (p.Pro985=) |
single nucleotide variant |
not specified [RCV004065342] |
Chr18:58537232 [GRCh38] Chr18:56204464 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1084G>A (p.Glu362Lys) |
single nucleotide variant |
not specified [RCV004061151] |
Chr18:58579692 [GRCh38] Chr18:56246924 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.161G>A (p.Gly54Glu) |
single nucleotide variant |
not specified [RCV004057512] |
Chr18:58607388 [GRCh38] Chr18:56274620 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.1810A>T (p.Ile604Phe) |
single nucleotide variant |
not specified [RCV004059326] |
Chr18:58578966 [GRCh38] Chr18:56246198 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4576C>G (p.Gln1526Glu) |
single nucleotide variant |
not specified [RCV004051448] |
Chr18:58535611 [GRCh38] Chr18:56202843 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3697G>A (p.Gly1233Ser) |
single nucleotide variant |
not specified [RCV004049688] |
Chr18:58536490 [GRCh38] Chr18:56203722 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6173G>T (p.Gly2058Val) |
single nucleotide variant |
not specified [RCV004053358] |
Chr18:58504005 [GRCh38] Chr18:56171237 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6176A>G (p.Gln2059Arg) |
single nucleotide variant |
not specified [RCV004053364] |
Chr18:58504002 [GRCh38] Chr18:56171234 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2927C>A (p.Ala976Asp) |
single nucleotide variant |
not specified [RCV004063174] |
Chr18:58537260 [GRCh38] Chr18:56204492 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6019G>A (p.Glu2007Lys) |
single nucleotide variant |
not specified [RCV004052584] |
Chr18:58515003 [GRCh38] Chr18:56182235 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6023T>G (p.Val2008Gly) |
single nucleotide variant |
not specified [RCV004052595] |
Chr18:58514999 [GRCh38] Chr18:56182231 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6051C>T (p.Ile2017=) |
single nucleotide variant |
not specified [RCV004052634] |
Chr18:58504127 [GRCh38] Chr18:56171359 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5077G>C (p.Ala1693Pro) |
single nucleotide variant |
not specified [RCV004050981] |
Chr18:58535110 [GRCh38] Chr18:56202342 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.165T>C (p.Ser55=) |
single nucleotide variant |
not specified [RCV004059771] |
Chr18:58607384 [GRCh38] Chr18:56274616 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.847A>G (p.Ile283Val) |
single nucleotide variant |
not specified [RCV004056175] |
Chr18:58579929 [GRCh38] Chr18:56247161 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5084C>G (p.Ala1695Gly) |
single nucleotide variant |
not specified [RCV004050993] |
Chr18:58535103 [GRCh38] Chr18:56202335 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5084C>T (p.Ala1695Val) |
single nucleotide variant |
not specified [RCV004050994] |
Chr18:58535103 [GRCh38] Chr18:56202335 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6448G>C (p.Val2150Leu) |
single nucleotide variant |
not specified [RCV004054001] |
Chr18:58481888 [GRCh38] Chr18:56149120 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3288C>T (p.Cys1096=) |
single nucleotide variant |
not specified [RCV004049458] |
Chr18:58536899 [GRCh38] Chr18:56204131 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4224G>A (p.Glu1408=) |
single nucleotide variant |
not specified [RCV004051923] |
Chr18:58535963 [GRCh38] Chr18:56203195 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4434G>A (p.Glu1478=) |
single nucleotide variant |
not specified [RCV004050696] |
Chr18:58535753 [GRCh38] Chr18:56202985 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4441C>A (p.Gln1481Lys) |
single nucleotide variant |
not specified [RCV004050709] |
Chr18:58535746 [GRCh38] Chr18:56202978 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4640T>C (p.Ile1547Thr) |
single nucleotide variant |
not specified [RCV004051560] |
Chr18:58535547 [GRCh38] Chr18:56202779 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1016A>G (p.Tyr339Cys) |
single nucleotide variant |
not specified [RCV004050250] |
Chr18:58579760 [GRCh38] Chr18:56246992 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4955C>T (p.Thr1652Ile) |
single nucleotide variant |
not specified [RCV004050281] |
Chr18:58535232 [GRCh38] Chr18:56202464 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.435T>G (p.His145Gln) |
single nucleotide variant |
not specified [RCV004050056] |
Chr18:58580341 [GRCh38] Chr18:56247573 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6185G>T (p.Cys2062Phe) |
single nucleotide variant |
not specified [RCV004053376] |
Chr18:58503993 [GRCh38] Chr18:56171225 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3423C>A (p.Ser1141Arg) |
single nucleotide variant |
not specified [RCV004047987] |
Chr18:58536764 [GRCh38] Chr18:56203996 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.921C>T (p.Asp307=) |
single nucleotide variant |
not specified [RCV004055605] |
Chr18:58579855 [GRCh38] Chr18:56247087 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6194A>G (p.Gln2065Arg) |
single nucleotide variant |
not specified [RCV004053384] |
Chr18:58503984 [GRCh38] Chr18:56171216 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6021A>C (p.Glu2007Asp) |
single nucleotide variant |
not specified [RCV004052593] |
Chr18:58515001 [GRCh38] Chr18:56182233 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3048A>T (p.Glu1016Asp) |
single nucleotide variant |
not specified [RCV004066374] |
Chr18:58537139 [GRCh38] Chr18:56204371 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.752G>A (p.Gly251Asp) |
single nucleotide variant |
not specified [RCV004056366] |
Chr18:58580024 [GRCh38] Chr18:56247256 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6034A>G (p.Ile2012Val) |
single nucleotide variant |
not specified [RCV004052607] |
Chr18:58504144 [GRCh38] Chr18:56171376 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4012C>A (p.Leu1338Ile) |
single nucleotide variant |
not specified [RCV004051120] |
Chr18:58536175 [GRCh38] Chr18:56203407 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6420G>A (p.Gln2140=) |
single nucleotide variant |
not specified [RCV004053969] |
Chr18:58481916 [GRCh38] Chr18:56149148 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2462C>A (p.Ser821Tyr) |
single nucleotide variant |
not specified [RCV004063903] |
Chr18:58537725 [GRCh38] Chr18:56204957 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2480T>C (p.Val827Ala) |
single nucleotide variant |
not specified [RCV004063966] |
Chr18:58537707 [GRCh38] Chr18:56204939 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5078C>T (p.Ala1693Val) |
single nucleotide variant |
not specified [RCV004050982] |
Chr18:58535109 [GRCh38] Chr18:56202341 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6160G>C (p.Glu2054Gln) |
single nucleotide variant |
not specified [RCV004053343] |
Chr18:58504018 [GRCh38] Chr18:56171250 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2264T>A (p.Val755Glu) |
single nucleotide variant |
not specified [RCV004061968] |
Chr18:58537923 [GRCh38] Chr18:56205155 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5049G>C (p.Lys1683Asn) |
single nucleotide variant |
not specified [RCV004050940] |
Chr18:58535138 [GRCh38] Chr18:56202370 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6411C>T (p.Asn2137=) |
single nucleotide variant |
not specified [RCV004053959] |
Chr18:58481925 [GRCh38] Chr18:56149157 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1732A>C (p.Ser578Arg) |
single nucleotide variant |
not specified [RCV004060690] |
Chr18:58579044 [GRCh38] Chr18:56246276 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1101T>C (p.Gly367=) |
single nucleotide variant |
not specified [RCV004062096] |
Chr18:58579675 [GRCh38] Chr18:56246907 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.455G>A (p.Ser152Asn) |
single nucleotide variant |
not specified [RCV004051428] |
Chr18:58580321 [GRCh38] Chr18:56247553 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4587G>A (p.Lys1529=) |
single nucleotide variant |
not specified [RCV004051467] |
Chr18:58535600 [GRCh38] Chr18:56202832 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4174T>C (p.Phe1392Leu) |
single nucleotide variant |
not specified [RCV004051833] |
Chr18:58536013 [GRCh38] Chr18:56203245 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4176T>C (p.Phe1392=) |
single nucleotide variant |
not specified [RCV004051839] |
Chr18:58536011 [GRCh38] Chr18:56203243 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4365A>G (p.Pro1455=) |
single nucleotide variant |
not specified [RCV004050062] |
Chr18:58535822 [GRCh38] Chr18:56203054 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4369C>T (p.Leu1457Phe) |
single nucleotide variant |
not specified [RCV004050068] |
Chr18:58535818 [GRCh38] Chr18:56203050 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5338A>G (p.Lys1780Glu) |
single nucleotide variant |
not specified [RCV004052419] |
Chr18:58534849 [GRCh38] Chr18:56202081 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1692C>T (p.Leu564=) |
single nucleotide variant |
not specified [RCV004059943] |
Chr18:58579084 [GRCh38] Chr18:56246316 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1703A>G (p.Lys568Arg) |
single nucleotide variant |
not specified [RCV004060523] |
Chr18:58579073 [GRCh38] Chr18:56246305 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1719C>T (p.Pro573=) |
single nucleotide variant |
not specified [RCV004060606] |
Chr18:58579057 [GRCh38] Chr18:56246289 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1722A>T (p.Pro574=) |
single nucleotide variant |
not specified [RCV004060635] |
Chr18:58579054 [GRCh38] Chr18:56246286 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.625G>A (p.Glu209Lys) |
single nucleotide variant |
not specified [RCV004053458] |
Chr18:58580151 [GRCh38] Chr18:56247383 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3435G>A (p.Gln1145=) |
single nucleotide variant |
not specified [RCV004048520] |
Chr18:58536752 [GRCh38] Chr18:56203984 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6313G>A (p.Gly2105Ser) |
single nucleotide variant |
not specified [RCV004053827] |
Chr18:58482023 [GRCh38] Chr18:56149255 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3449C>A (p.Ala1150Glu) |
single nucleotide variant |
not specified [RCV004048550] |
Chr18:58536738 [GRCh38] Chr18:56203970 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6461C>A (p.Ser2154Tyr) |
single nucleotide variant |
not specified [RCV004054017] |
Chr18:58481875 [GRCh38] Chr18:56149107 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6468A>G (p.Thr2156=) |
single nucleotide variant |
ALPK2-related disorder [RCV003961017]|not specified [RCV004054022] |
Chr18:58481868 [GRCh38] Chr18:56149100 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.6468A>T (p.Thr2156=) |
single nucleotide variant |
not specified [RCV004054023] |
Chr18:58481868 [GRCh38] Chr18:56149100 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2495C>T (p.Pro832Leu) |
single nucleotide variant |
not specified [RCV004061994] |
Chr18:58537692 [GRCh38] Chr18:56204924 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4364C>T (p.Pro1455Leu) |
single nucleotide variant |
not specified [RCV004050061] |
Chr18:58535823 [GRCh38] Chr18:56203055 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4973G>T (p.Gly1658Val) |
single nucleotide variant |
not specified [RCV004050312] |
Chr18:58535214 [GRCh38] Chr18:56202446 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4995C>A (p.Ala1665=) |
single nucleotide variant |
not specified [RCV004050852] |
Chr18:58535192 [GRCh38] Chr18:56202424 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6210G>A (p.Gln2070=) |
single nucleotide variant |
not specified [RCV004053398] |
Chr18:58503968 [GRCh38] Chr18:56171200 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.292T>G (p.Cys98Gly) |
single nucleotide variant |
not specified [RCV004063182] |
Chr18:58580484 [GRCh38] Chr18:56247716 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6270C>G (p.Asp2090Glu) |
single nucleotide variant |
not specified [RCV004053470] |
Chr18:58498075 [GRCh38] Chr18:56165307 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1018T>C (p.Ser340Pro) |
single nucleotide variant |
not specified [RCV004052621] |
Chr18:58579758 [GRCh38] Chr18:56246990 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3064T>C (p.Tyr1022His) |
single nucleotide variant |
not specified [RCV004066423] |
Chr18:58537123 [GRCh38] Chr18:56204355 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2483A>G (p.Asp828Gly) |
single nucleotide variant |
not specified [RCV004063971] |
Chr18:58537704 [GRCh38] Chr18:56204936 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1662A>G (p.Arg554=) |
single nucleotide variant |
not specified [RCV004059781] |
Chr18:58579114 [GRCh38] Chr18:56246346 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6188C>A (p.Thr2063Asn) |
single nucleotide variant |
not specified [RCV004053379] |
Chr18:58503990 [GRCh38] Chr18:56171222 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2928C>T (p.Ala976=) |
single nucleotide variant |
not specified [RCV004063176] |
Chr18:58537259 [GRCh38] Chr18:56204491 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6269A>G (p.Asp2090Gly) |
single nucleotide variant |
not specified [RCV004053463] |
Chr18:58498076 [GRCh38] Chr18:56165308 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2479G>A (p.Val827Ile) |
single nucleotide variant |
not specified [RCV004063957] |
Chr18:58537708 [GRCh38] Chr18:56204940 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.247G>T (p.Ala83Ser) |
single nucleotide variant |
not specified [RCV004063961] |
Chr18:58580529 [GRCh38] Chr18:56247761 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6017G>A (p.Gly2006Glu) |
single nucleotide variant |
not specified [RCV004052582] |
Chr18:58515005 [GRCh38] Chr18:56182237 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3045C>A (p.Thr1015=) |
single nucleotide variant |
not specified [RCV004066370] |
Chr18:58537142 [GRCh38] Chr18:56204374 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4005A>G (p.Gln1335=) |
single nucleotide variant |
not specified [RCV004050591] |
Chr18:58536182 [GRCh38] Chr18:56203414 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.752G>T (p.Gly251Val) |
single nucleotide variant |
not specified [RCV004056369] |
Chr18:58580024 [GRCh38] Chr18:56247256 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2466T>A (p.Leu822=) |
single nucleotide variant |
not specified [RCV004063910] |
Chr18:58537721 [GRCh38] Chr18:56204953 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5068T>A (p.Ser1690Thr) |
single nucleotide variant |
not specified [RCV004050971] |
Chr18:58535119 [GRCh38] Chr18:56202351 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.643T>G (p.Leu215Val) |
single nucleotide variant |
not specified [RCV004053994] |
Chr18:58580133 [GRCh38] Chr18:56247365 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5177G>A (p.Gly1726Glu) |
single nucleotide variant |
not specified [RCV004051641] |
Chr18:58535010 [GRCh38] Chr18:56202242 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1629G>A (p.Lys543=) |
single nucleotide variant |
not specified [RCV004058061] |
Chr18:58579147 [GRCh38] Chr18:56246379 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1887T>C (p.Asn629=) |
single nucleotide variant |
not specified [RCV004060188] |
Chr18:58578889 [GRCh38] Chr18:56246121 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4569G>A (p.Glu1523=) |
single nucleotide variant |
not specified [RCV004051438] |
Chr18:58535618 [GRCh38] Chr18:56202850 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4569G>T (p.Glu1523Asp) |
single nucleotide variant |
not specified [RCV004051439] |
Chr18:58535618 [GRCh38] Chr18:56202850 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1889G>C (p.Cys630Ser) |
single nucleotide variant |
not specified [RCV004060196] |
Chr18:58578887 [GRCh38] Chr18:56246119 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1889G>T (p.Cys630Phe) |
single nucleotide variant |
not specified [RCV004060197] |
Chr18:58578887 [GRCh38] Chr18:56246119 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.117C>T (p.Pro39=) |
single nucleotide variant |
not specified [RCV004051485] |
Chr18:58607432 [GRCh38] Chr18:56274664 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.1823C>G (p.Ala608Gly) |
single nucleotide variant |
not specified [RCV004059389] |
Chr18:58578953 [GRCh38] Chr18:56246185 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4305A>G (p.Gln1435=) |
single nucleotide variant |
not specified [RCV004049959] |
Chr18:58535882 [GRCh38] Chr18:56203114 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4371C>A (p.Leu1457=) |
single nucleotide variant |
not specified [RCV004050077] |
Chr18:58535816 [GRCh38] Chr18:56203048 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5676G>T (p.Glu1892Asp) |
single nucleotide variant |
not specified [RCV004053688] |
Chr18:58517172 [GRCh38] Chr18:56184404 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5683T>A (p.Phe1895Ile) |
single nucleotide variant |
not specified [RCV004053700] |
Chr18:58517165 [GRCh38] Chr18:56184397 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5706A>C (p.Glu1902Asp) |
single nucleotide variant |
not specified [RCV004053731] |
Chr18:58517142 [GRCh38] Chr18:56184374 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6375C>T (p.Cys2125=) |
single nucleotide variant |
not specified [RCV004053899] |
Chr18:58481961 [GRCh38] Chr18:56149193 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3461A>C (p.Gln1154Pro) |
single nucleotide variant |
not specified [RCV004048574] |
Chr18:58536726 [GRCh38] Chr18:56203958 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3476C>T (p.Thr1159Met) |
single nucleotide variant |
not specified [RCV004048608] |
Chr18:58536711 [GRCh38] Chr18:56203943 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.759T>C (p.His253=) |
single nucleotide variant |
not specified [RCV004056437] |
Chr18:58580017 [GRCh38] Chr18:56247249 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1438G>C (p.Ala480Pro) |
single nucleotide variant |
not specified [RCV004057847] |
Chr18:58579338 [GRCh38] Chr18:56246570 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4497A>G (p.Glu1499=) |
single nucleotide variant |
not specified [RCV004050802] |
Chr18:58535690 [GRCh38] Chr18:56202922 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5019T>C (p.Cys1673=) |
single nucleotide variant |
not specified [RCV004050898] |
Chr18:58535168 [GRCh38] Chr18:56202400 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4125C>T (p.Asp1375=) |
single nucleotide variant |
not specified [RCV004051727] |
Chr18:58536062 [GRCh38] Chr18:56203294 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4127A>G (p.Gln1376Arg) |
single nucleotide variant |
not specified [RCV004051729] |
Chr18:58536060 [GRCh38] Chr18:56203292 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4153C>T (p.His1385Tyr) |
single nucleotide variant |
not specified [RCV004051785] |
Chr18:58536034 [GRCh38] Chr18:56203266 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4158T>C (p.Thr1386=) |
single nucleotide variant |
not specified [RCV004051795] |
Chr18:58536029 [GRCh38] Chr18:56203261 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2937T>A (p.Ser979Arg) |
single nucleotide variant |
not specified [RCV004063197] |
Chr18:58537250 [GRCh38] Chr18:56204482 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3444T>C (p.Leu1148=) |
single nucleotide variant |
not specified [RCV004048543] |
Chr18:58536743 [GRCh38] Chr18:56203975 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1121G>C (p.Cys374Ser) |
single nucleotide variant |
not specified [RCV004063217] |
Chr18:58579655 [GRCh38] Chr18:56246887 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6386G>T (p.Gly2129Val) |
single nucleotide variant |
not specified [RCV004053915] |
Chr18:58481950 [GRCh38] Chr18:56149182 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6470T>C (p.Ile2157Thr) |
single nucleotide variant |
not specified [RCV004054033] |
Chr18:58481866 [GRCh38] Chr18:56149098 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6487G>C (p.Glu2163Gln) |
single nucleotide variant |
not specified [RCV004054311] |
Chr18:58481849 [GRCh38] Chr18:56149081 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6498C>T (p.Gly2166=) |
single nucleotide variant |
not specified [RCV004054324] |
Chr18:58481838 [GRCh38] Chr18:56149070 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.628G>C (p.Glu210Gln) |
single nucleotide variant |
not specified [RCV004053500] |
Chr18:58580148 [GRCh38] Chr18:56247380 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.197A>C (p.Asn66Thr) |
single nucleotide variant |
not specified [RCV004061631] |
Chr18:58607352 [GRCh38] Chr18:56274584 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.3441T>C (p.Ser1147=) |
single nucleotide variant |
not specified [RCV004048538] |
Chr18:58536746 [GRCh38] Chr18:56203978 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1221C>G (p.Pro407=) |
single nucleotide variant |
not specified [RCV004053904] |
Chr18:58579555 [GRCh38] Chr18:56246787 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6386G>C (p.Gly2129Ala) |
single nucleotide variant |
not specified [RCV004053914] |
Chr18:58481950 [GRCh38] Chr18:56149182 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1258C>T (p.His420Tyr) |
single nucleotide variant |
not specified [RCV004055524] |
Chr18:58579518 [GRCh38] Chr18:56246750 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6053A>C (p.His2018Pro) |
single nucleotide variant |
not specified [RCV004052636] |
Chr18:58504125 [GRCh38] Chr18:56171357 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6055C>T (p.Arg2019Trp) |
single nucleotide variant |
not specified [RCV004052639] |
Chr18:58504123 [GRCh38] Chr18:56171355 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.658T>G (p.Ser220Ala) |
single nucleotide variant |
not specified [RCV004054440] |
Chr18:58580118 [GRCh38] Chr18:56247350 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3060C>T (p.Ala1020=) |
single nucleotide variant |
not specified [RCV004066413] |
Chr18:58537127 [GRCh38] Chr18:56204359 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6459C>G (p.Asn2153Lys) |
single nucleotide variant |
not specified [RCV004054011] |
Chr18:58481877 [GRCh38] Chr18:56149109 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.917G>C (p.Ser306Thr) |
single nucleotide variant |
not specified [RCV004055058] |
Chr18:58579859 [GRCh38] Chr18:56247091 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.91C>G (p.Leu31Val) |
single nucleotide variant |
not specified [RCV004055076] |
Chr18:58611707 [GRCh38] Chr18:56278939 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1693T>C (p.Cys565Arg) |
single nucleotide variant |
not specified [RCV004059954] |
Chr18:58579083 [GRCh38] Chr18:56246315 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2533G>A (p.Gly845Ser) |
single nucleotide variant |
not specified [RCV004062130] |
Chr18:58537654 [GRCh38] Chr18:56204886 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1633A>G (p.Asn545Asp) |
single nucleotide variant |
not specified [RCV004058088] |
Chr18:58579143 [GRCh38] Chr18:56246375 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1360G>T (p.Ala454Ser) |
single nucleotide variant |
not specified [RCV004058841] |
Chr18:58579416 [GRCh38] Chr18:56246648 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.430G>A (p.Glu144Lys) |
single nucleotide variant |
not specified [RCV004049972] |
Chr18:58580346 [GRCh38] Chr18:56247578 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4375G>A (p.Gly1459Arg) |
single nucleotide variant |
not specified [RCV004050080] |
Chr18:58535812 [GRCh38] Chr18:56203044 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4380C>T (p.Thr1460=) |
single nucleotide variant |
not specified [RCV004050605] |
Chr18:58535807 [GRCh38] Chr18:56203039 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5124A>C (p.Ser1708=) |
single nucleotide variant |
not specified [RCV004051051] |
Chr18:58535063 [GRCh38] Chr18:56202295 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5658T>C (p.Asp1886=) |
single nucleotide variant |
not specified [RCV004053666] |
Chr18:58523813 [GRCh38] Chr18:56191045 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5660C>G (p.Thr1887Ser) |
single nucleotide variant |
not specified [RCV004053672] |
Chr18:58523811 [GRCh38] Chr18:56191043 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2710G>A (p.Glu904Lys) |
single nucleotide variant |
not specified [RCV004063725] |
Chr18:58537477 [GRCh38] Chr18:56204709 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2317G>T (p.Ala773Ser) |
single nucleotide variant |
not specified [RCV004062670] |
Chr18:58537870 [GRCh38] Chr18:56205102 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.688T>C (p.Cys230Arg) |
single nucleotide variant |
not specified [RCV004052926] |
Chr18:58580088 [GRCh38] Chr18:56247320 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1751C>G (p.Ser584Cys) |
single nucleotide variant |
not specified [RCV004061294] |
Chr18:58579025 [GRCh38] Chr18:56246257 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4161C>A (p.Ala1387=) |
single nucleotide variant |
not specified [RCV004051807] |
Chr18:58536026 [GRCh38] Chr18:56203258 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.934C>T (p.Pro312Ser) |
single nucleotide variant |
not specified [RCV004055702] |
Chr18:58579842 [GRCh38] Chr18:56247074 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.894G>A (p.Gln298=) |
single nucleotide variant |
not specified [RCV004054891] |
Chr18:58579882 [GRCh38] Chr18:56247114 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3481T>C (p.Ser1161Pro) |
single nucleotide variant |
not specified [RCV004048631] |
Chr18:58536706 [GRCh38] Chr18:56203938 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1499C>T (p.Ser500Phe) |
single nucleotide variant |
not specified [RCV004058531] |
Chr18:58579277 [GRCh38] Chr18:56246509 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.820C>T (p.Leu274Phe) |
single nucleotide variant |
not specified [RCV004055548] |
Chr18:58579956 [GRCh38] Chr18:56247188 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.888C>T (p.Ser296=) |
single nucleotide variant |
not specified [RCV004054838] |
Chr18:58579888 [GRCh38] Chr18:56247120 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1224A>G (p.Gln408=) |
single nucleotide variant |
not specified [RCV004054309] |
Chr18:58579552 [GRCh38] Chr18:56246784 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.684C>T (p.Asp228=) |
single nucleotide variant |
not specified [RCV004052877] |
Chr18:58580092 [GRCh38] Chr18:56247324 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5190A>C (p.Lys1730Asn) |
single nucleotide variant |
not specified [RCV004051659] |
Chr18:58534997 [GRCh38] Chr18:56202229 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4193T>C (p.Ile1398Thr) |
single nucleotide variant |
not specified [RCV004051866] |
Chr18:58535994 [GRCh38] Chr18:56203226 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1370C>T (p.Ala457Val) |
single nucleotide variant |
not specified [RCV004058883] |
Chr18:58579406 [GRCh38] Chr18:56246638 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.487T>C (p.Ser163Pro) |
single nucleotide variant |
not specified [RCV004050147] |
Chr18:58580289 [GRCh38] Chr18:56247521 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4600T>G (p.Leu1534Val) |
single nucleotide variant |
not specified [RCV004051498] |
Chr18:58535587 [GRCh38] Chr18:56202819 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4607C>A (p.Ser1536Tyr) |
single nucleotide variant |
not specified [RCV004051502] |
Chr18:58535580 [GRCh38] Chr18:56202812 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4389T>A (p.Ser1463Arg) |
single nucleotide variant |
not specified [RCV004050610] |
Chr18:58535798 [GRCh38] Chr18:56203030 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5139G>A (p.Arg1713=) |
single nucleotide variant |
not specified [RCV004051072] |
Chr18:58535048 [GRCh38] Chr18:56202280 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1689T>C (p.His563=) |
single nucleotide variant |
not specified [RCV004059922] |
Chr18:58579087 [GRCh38] Chr18:56246319 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5348G>A (p.Gly1783Glu) |
single nucleotide variant |
not specified [RCV004052430] |
Chr18:58534839 [GRCh38] Chr18:56202071 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5352A>T (p.Arg1784Ser) |
single nucleotide variant |
not specified [RCV004052443] |
Chr18:58534835 [GRCh38] Chr18:56202067 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1704A>G (p.Lys568=) |
single nucleotide variant |
not specified [RCV004060529] |
Chr18:58579072 [GRCh38] Chr18:56246304 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.37T>C (p.Cys13Arg) |
single nucleotide variant |
not specified [RCV004048117] |
Chr18:58611761 [GRCh38] Chr18:56278993 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.3804T>C (p.Ile1268=) |
single nucleotide variant |
not specified [RCV004048128] |
Chr18:58536383 [GRCh38] Chr18:56203615 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2781T>G (p.Ala927=) |
single nucleotide variant |
not specified [RCV004064208] |
Chr18:58537406 [GRCh38] Chr18:56204638 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2782G>A (p.Gly928Ser) |
single nucleotide variant |
not specified [RCV004064209] |
Chr18:58537405 [GRCh38] Chr18:56204637 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1114G>A (p.Gly372Ser) |
single nucleotide variant |
not specified [RCV004064210] |
Chr18:58579662 [GRCh38] Chr18:56246894 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3826C>G (p.Pro1276Ala) |
single nucleotide variant |
not specified [RCV004048165] |
Chr18:58536361 [GRCh38] Chr18:56203593 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4019A>G (p.Glu1340Gly) |
single nucleotide variant |
not specified [RCV004051136] |
Chr18:58536168 [GRCh38] Chr18:56203400 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.690T>G (p.Cys230Trp) |
single nucleotide variant |
not specified [RCV004052954] |
Chr18:58580086 [GRCh38] Chr18:56247318 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3096T>A (p.His1032Gln) |
single nucleotide variant |
not specified [RCV004048304] |
Chr18:58537091 [GRCh38] Chr18:56204323 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2336C>T (p.Pro779Leu) |
single nucleotide variant |
not specified [RCV004062723] |
Chr18:58537851 [GRCh38] Chr18:56205083 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.696C>A (p.His232Gln) |
single nucleotide variant |
not specified [RCV004053519] |
Chr18:58580080 [GRCh38] Chr18:56247312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.696C>T (p.His232=) |
single nucleotide variant |
not specified [RCV004053521] |
Chr18:58580080 [GRCh38] Chr18:56247312 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1059T>C (p.His353=) |
single nucleotide variant |
not specified [RCV004061351] |
Chr18:58579717 [GRCh38] Chr18:56246949 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4522T>A (p.Cys1508Ser) |
single nucleotide variant |
not specified [RCV004051369] |
Chr18:58535665 [GRCh38] Chr18:56202897 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4373A>G (p.Gln1458Arg) |
single nucleotide variant |
not specified [RCV004050078] |
Chr18:58535814 [GRCh38] Chr18:56203046 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5128G>A (p.Glu1710Lys) |
single nucleotide variant |
not specified [RCV004051055] |
Chr18:58535059 [GRCh38] Chr18:56202291 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2293C>T (p.Arg765Cys) |
single nucleotide variant |
not specified [RCV004062582] |
Chr18:58537894 [GRCh38] Chr18:56205126 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2103T>C (p.Asn701=) |
single nucleotide variant |
not specified [RCV004060337] |
Chr18:58538084 [GRCh38] Chr18:56205316 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2370T>C (p.Asn790=) |
single nucleotide variant |
not specified [RCV004063319] |
Chr18:58537817 [GRCh38] Chr18:56205049 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2371G>A (p.Val791Met) |
single nucleotide variant |
not specified [RCV004063321] |
Chr18:58537816 [GRCh38] Chr18:56205048 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2373G>A (p.Val791=) |
single nucleotide variant |
not specified [RCV004063331] |
Chr18:58537814 [GRCh38] Chr18:56205046 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1452G>A (p.Leu484=) |
single nucleotide variant |
not specified [RCV004057919] |
Chr18:58579324 [GRCh38] Chr18:56246556 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3089A>T (p.Asp1030Val) |
single nucleotide variant |
not specified [RCV004048284] |
Chr18:58537098 [GRCh38] Chr18:56204330 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.689G>A (p.Cys230Tyr) |
single nucleotide variant |
not specified [RCV004052936] |
Chr18:58580087 [GRCh38] Chr18:56247319 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2724A>T (p.Gly908=) |
single nucleotide variant |
not specified [RCV004064018] |
Chr18:58537463 [GRCh38] Chr18:56204695 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3096T>G (p.His1032Gln) |
single nucleotide variant |
not specified [RCV004048305] |
Chr18:58537091 [GRCh38] Chr18:56204323 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2326G>C (p.Val776Leu) |
single nucleotide variant |
not specified [RCV004062701] |
Chr18:58537861 [GRCh38] Chr18:56205093 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.937G>A (p.Glu313Lys) |
single nucleotide variant |
not specified [RCV004055718] |
Chr18:58579839 [GRCh38] Chr18:56247071 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.859G>A (p.Asp287Asn) |
single nucleotide variant |
not specified [RCV004056538] |
Chr18:58579917 [GRCh38] Chr18:56247149 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3085G>A (p.Glu1029Lys) |
single nucleotide variant |
not specified [RCV004048275] |
Chr18:58537102 [GRCh38] Chr18:56204334 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3085G>C (p.Glu1029Gln) |
single nucleotide variant |
not specified [RCV004048277] |
Chr18:58537102 [GRCh38] Chr18:56204334 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.169A>T (p.Ile57Phe) |
single nucleotide variant |
not specified [RCV004060499] |
Chr18:58607380 [GRCh38] Chr18:56274612 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2365G>A (p.Glu789Lys) |
single nucleotide variant |
not specified [RCV004063301] |
Chr18:58537822 [GRCh38] Chr18:56205054 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.419T>C (p.Ile140Thr) |
single nucleotide variant |
not specified [RCV004051871] |
Chr18:58580357 [GRCh38] Chr18:56247589 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2549C>T (p.Ser850Phe) |
single nucleotide variant |
not specified [RCV004062182] |
Chr18:58537638 [GRCh38] Chr18:56204870 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4202C>T (p.Ser1401Phe) |
single nucleotide variant |
not specified [RCV004051878] |
Chr18:58535985 [GRCh38] Chr18:56203217 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1068A>C (p.Leu356Phe) |
single nucleotide variant |
not specified [RCV004060784] |
Chr18:58579708 [GRCh38] Chr18:56246940 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.116C>G (p.Pro39Arg) |
single nucleotide variant |
not specified [RCV004049853] |
Chr18:58607433 [GRCh38] Chr18:56274665 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1374T>C (p.Ala458=) |
single nucleotide variant |
not specified [RCV004058898] |
Chr18:58579402 [GRCh38] Chr18:56246634 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4323G>C (p.Met1441Ile) |
single nucleotide variant |
not specified [RCV004049995] |
Chr18:58535864 [GRCh38] Chr18:56203096 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1171G>A (p.Ala391Thr) |
single nucleotide variant |
not specified [RCV004049999] |
Chr18:58579605 [GRCh38] Chr18:56246837 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4617A>T (p.Ser1539=) |
single nucleotide variant |
not specified [RCV004051517] |
Chr18:58535570 [GRCh38] Chr18:56202802 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4329C>T (p.His1443=) |
single nucleotide variant |
not specified [RCV004050000] |
Chr18:58535858 [GRCh38] Chr18:56203090 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5361A>G (p.Val1787=) |
single nucleotide variant |
not specified [RCV004052459] |
Chr18:58529231 [GRCh38] Chr18:56196463 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5371A>C (p.Lys1791Gln) |
single nucleotide variant |
not specified [RCV004052465] |
Chr18:58529221 [GRCh38] Chr18:56196453 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1721C>T (p.Pro574Leu) |
single nucleotide variant |
not specified [RCV004060626] |
Chr18:58579055 [GRCh38] Chr18:56246287 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5387T>A (p.Met1796Lys) |
single nucleotide variant |
not specified [RCV004053000] |
Chr18:58529205 [GRCh38] Chr18:56196437 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1860C>T (p.Asp620=) |
single nucleotide variant |
not specified [RCV004060060] |
Chr18:58578916 [GRCh38] Chr18:56246148 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2796A>G (p.Pro932=) |
single nucleotide variant |
not specified [RCV004064242] |
Chr18:58537391 [GRCh38] Chr18:56204623 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.279T>C (p.Phe93=) |
single nucleotide variant |
not specified [RCV004062248] |
Chr18:58580497 [GRCh38] Chr18:56247729 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3939C>G (p.Ser1313Arg) |
single nucleotide variant |
not specified [RCV004050433] |
Chr18:58536248 [GRCh38] Chr18:56203480 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4026C>T (p.Ser1342=) |
single nucleotide variant |
not specified [RCV004051153] |
Chr18:58536161 [GRCh38] Chr18:56203393 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3111G>A (p.Glu1037=) |
single nucleotide variant |
not specified [RCV004048367] |
Chr18:58537076 [GRCh38] Chr18:56204308 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1620G>A (p.Pro540=) |
single nucleotide variant |
not specified [RCV004057519] |
Chr18:58579156 [GRCh38] Chr18:56246388 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4551T>C (p.Ser1517=) |
single nucleotide variant |
not specified [RCV004051417] |
Chr18:58535636 [GRCh38] Chr18:56202868 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4567G>A (p.Glu1523Lys) |
single nucleotide variant |
not specified [RCV004051435] |
Chr18:58535620 [GRCh38] Chr18:56202852 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1889G>A (p.Cys630Tyr) |
single nucleotide variant |
not specified [RCV004060195] |
Chr18:58578887 [GRCh38] Chr18:56246119 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5272A>G (p.Met1758Val) |
single nucleotide variant |
not specified [RCV004599308] |
Chr18:58534915 [GRCh38] Chr18:56202147 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5281C>G (p.Leu1761Val) |
single nucleotide variant |
not specified [RCV004052331] |
Chr18:58534906 [GRCh38] Chr18:56202138 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3822T>C (p.Ala1274=) |
single nucleotide variant |
not specified [RCV004048161] |
Chr18:58536365 [GRCh38] Chr18:56203597 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2799C>A (p.Ser933Arg) |
single nucleotide variant |
not specified [RCV004064248] |
Chr18:58537388 [GRCh38] Chr18:56204620 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3856C>A (p.Pro1286Thr) |
single nucleotide variant |
not specified [RCV004048222] |
Chr18:58536331 [GRCh38] Chr18:56203563 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3869C>T (p.Pro1290Leu) |
single nucleotide variant |
not specified [RCV004048249] |
Chr18:58536318 [GRCh38] Chr18:56203550 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4393A>T (p.Asn1465Tyr) |
single nucleotide variant |
not specified [RCV004050619] |
Chr18:58535794 [GRCh38] Chr18:56203026 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4025C>T (p.Ser1342Phe) |
single nucleotide variant |
not specified [RCV004051151] |
Chr18:58536162 [GRCh38] Chr18:56203394 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.402A>G (p.Glu134=) |
single nucleotide variant |
not specified [RCV004051162] |
Chr18:58580374 [GRCh38] Chr18:56247606 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.969A>C (p.Ser323=) |
single nucleotide variant |
not specified [RCV004057015] |
Chr18:58579807 [GRCh38] Chr18:56247039 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2647A>G (p.Asn883Asp) |
single nucleotide variant |
not specified [RCV004063522] |
Chr18:58537540 [GRCh38] Chr18:56204772 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.696C>G (p.His232Gln) |
single nucleotide variant |
not specified [RCV004053520] |
Chr18:58580080 [GRCh38] Chr18:56247312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2343C>T (p.Pro781=) |
single nucleotide variant |
not specified [RCV004063227] |
Chr18:58537844 [GRCh38] Chr18:56205076 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2783G>C (p.Gly928Ala) |
single nucleotide variant |
not specified [RCV004064211] |
Chr18:58537404 [GRCh38] Chr18:56204636 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3182T>C (p.Leu1061Ser) |
single nucleotide variant |
not specified [RCV004048859] |
Chr18:58537005 [GRCh38] Chr18:56204237 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3094C>T (p.His1032Tyr) |
single nucleotide variant |
not specified [RCV004048299] |
Chr18:58537093 [GRCh38] Chr18:56204325 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2326G>T (p.Val776Phe) |
single nucleotide variant |
not specified [RCV004062702] |
Chr18:58537861 [GRCh38] Chr18:56205093 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3102T>C (p.Gly1034=) |
single nucleotide variant |
not specified [RCV004048345] |
Chr18:58537085 [GRCh38] Chr18:56204317 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4207G>A (p.Val1403Ile) |
single nucleotide variant |
not specified [RCV004051887] |
Chr18:58535980 [GRCh38] Chr18:56203212 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4266C>T (p.Pro1422=) |
single nucleotide variant |
not specified [RCV004049872] |
Chr18:58535921 [GRCh38] Chr18:56203153 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4902G>A (p.Val1634=) |
single nucleotide variant |
not specified [RCV004050199] |
Chr18:58535285 [GRCh38] Chr18:56202517 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4903C>A (p.Leu1635Ile) |
single nucleotide variant |
not specified [RCV004050201] |
Chr18:58535284 [GRCh38] Chr18:56202516 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4273A>G (p.Thr1425Ala) |
single nucleotide variant |
not specified [RCV004049889] |
Chr18:58535914 [GRCh38] Chr18:56203146 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4920C>G (p.Thr1640=) |
single nucleotide variant |
not specified [RCV004050224] |
Chr18:58535267 [GRCh38] Chr18:56202499 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4621C>A (p.Leu1541Ile) |
single nucleotide variant |
not specified [RCV004051526] |
Chr18:58535566 [GRCh38] Chr18:56202798 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1914T>C (p.Asn638=) |
single nucleotide variant |
not specified [RCV004060836] |
Chr18:58578862 [GRCh38] Chr18:56246094 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4334C>T (p.Ala1445Val) |
single nucleotide variant |
not specified [RCV004050010] |
Chr18:58535853 [GRCh38] Chr18:56203085 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4335G>A (p.Ala1445=) |
single nucleotide variant |
not specified [RCV004050012] |
Chr18:58535852 [GRCh38] Chr18:56203084 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4335G>C (p.Ala1445=) |
single nucleotide variant |
not specified [RCV004050013] |
Chr18:58535852 [GRCh38] Chr18:56203084 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4336G>A (p.Glu1446Lys) |
single nucleotide variant |
not specified [RCV004050014] |
Chr18:58535851 [GRCh38] Chr18:56203083 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5276C>G (p.Pro1759Arg) |
single nucleotide variant |
not specified [RCV004052322] |
Chr18:58534911 [GRCh38] Chr18:56202143 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5277C>T (p.Pro1759=) |
single nucleotide variant |
not specified [RCV004052323] |
Chr18:58534910 [GRCh38] Chr18:56202142 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5278A>G (p.Lys1760Glu) |
single nucleotide variant |
not specified [RCV004052326] |
Chr18:58534909 [GRCh38] Chr18:56202141 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1863A>G (p.Ser621=) |
single nucleotide variant |
not specified [RCV004060070] |
Chr18:58578913 [GRCh38] Chr18:56246145 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1869C>T (p.Ser623=) |
single nucleotide variant |
not specified [RCV004060093] |
Chr18:58578907 [GRCh38] Chr18:56246139 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5672A>G (p.Glu1891Gly) |
single nucleotide variant |
not specified [RCV004053683] |
Chr18:58517176 [GRCh38] Chr18:56184408 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5679T>C (p.Ile1893=) |
single nucleotide variant |
not specified [RCV004053689] |
Chr18:58517169 [GRCh38] Chr18:56184401 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1871A>T (p.Lys624Ile) |
single nucleotide variant |
not specified [RCV004060108] |
Chr18:58578905 [GRCh38] Chr18:56246137 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5907G>A (p.Glu1969=) |
single nucleotide variant |
not specified [RCV004054252] |
Chr18:58516941 [GRCh38] Chr18:56184173 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3942T>A (p.His1314Gln) |
single nucleotide variant |
not specified [RCV004050444] |
Chr18:58536245 [GRCh38] Chr18:56203477 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5912T>G (p.Ile1971Ser) |
single nucleotide variant |
not specified [RCV004054259] |
Chr18:58516936 [GRCh38] Chr18:56184168 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5922C>T (p.Asn1974=) |
single nucleotide variant |
not specified [RCV004054274] |
Chr18:58516926 [GRCh38] Chr18:56184158 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5932G>A (p.Ala1978Thr) |
single nucleotide variant |
not specified [RCV004054294] |
Chr18:58516916 [GRCh38] Chr18:56184148 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5942A>T (p.Glu1981Val) |
single nucleotide variant |
not specified [RCV004054307] |
Chr18:58515080 [GRCh38] Chr18:56182312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5945G>A (p.Cys1982Tyr) |
single nucleotide variant |
not specified [RCV004052480] |
Chr18:58515077 [GRCh38] Chr18:56182309 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2657T>C (p.Met886Thr) |
single nucleotide variant |
not specified [RCV004063556] |
Chr18:58537530 [GRCh38] Chr18:56204762 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2663C>T (p.Pro888Leu) |
single nucleotide variant |
not specified [RCV004063571] |
Chr18:58537524 [GRCh38] Chr18:56204756 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3207A>C (p.Thr1069=) |
single nucleotide variant |
not specified [RCV004048950] |
Chr18:58536980 [GRCh38] Chr18:56204212 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4849A>T (p.Asn1617Tyr) |
single nucleotide variant |
not specified [RCV004050087] |
Chr18:58535338 [GRCh38] Chr18:56202570 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4854C>T (p.Val1618=) |
single nucleotide variant |
not specified [RCV004050103] |
Chr18:58535333 [GRCh38] Chr18:56202565 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1365C>T (p.Pro455=) |
single nucleotide variant |
not specified [RCV004058861] |
Chr18:58579411 [GRCh38] Chr18:56246643 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4243A>C (p.Thr1415Pro) |
single nucleotide variant |
not specified [RCV004051960] |
Chr18:58535944 [GRCh38] Chr18:56203176 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1187C>T (p.Ala396Val) |
single nucleotide variant |
not specified [RCV004050138] |
Chr18:58579589 [GRCh38] Chr18:56246821 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5286A>T (p.Glu1762Asp) |
single nucleotide variant |
not specified [RCV004052333] |
Chr18:58534901 [GRCh38] Chr18:56202133 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5289A>G (p.Thr1763=) |
single nucleotide variant |
not specified [RCV004052334] |
Chr18:58534898 [GRCh38] Chr18:56202130 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5317G>A (p.Asp1773Asn) |
single nucleotide variant |
not specified [RCV004052386] |
Chr18:58534870 [GRCh38] Chr18:56202102 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5319C>T (p.Asp1773=) |
single nucleotide variant |
not specified [RCV004052387] |
Chr18:58534868 [GRCh38] Chr18:56202100 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3928A>G (p.Ser1310Gly) |
single nucleotide variant |
not specified [RCV004050416] |
Chr18:58536259 [GRCh38] Chr18:56203491 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2816G>A (p.Gly939Glu) |
single nucleotide variant |
not specified [RCV004062306] |
Chr18:58537371 [GRCh38] Chr18:56204603 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.747T>C (p.Asn249=) |
single nucleotide variant |
not specified [RCV004056318] |
Chr18:58580029 [GRCh38] Chr18:56247261 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2951T>C (p.Phe984Ser) |
single nucleotide variant |
not specified [RCV004065331] |
Chr18:58537236 [GRCh38] Chr18:56204468 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5761G>C (p.Glu1921Gln) |
single nucleotide variant |
not specified [RCV004054059] |
Chr18:58517087 [GRCh38] Chr18:56184319 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3223A>C (p.Arg1075=) |
single nucleotide variant |
not specified [RCV004049020] |
Chr18:58536964 [GRCh38] Chr18:56204196 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2657T>A (p.Met886Lys) |
single nucleotide variant |
not specified [RCV004063555] |
Chr18:58537530 [GRCh38] Chr18:56204762 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1766C>A (p.Ala589Glu) |
single nucleotide variant |
not specified [RCV004061362] |
Chr18:58579010 [GRCh38] Chr18:56246242 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2662C>T (p.Pro888Ser) |
single nucleotide variant |
not specified [RCV004063568] |
Chr18:58537525 [GRCh38] Chr18:56204757 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3208A>G (p.Lys1070Glu) |
single nucleotide variant |
not specified [RCV004048956] |
Chr18:58536979 [GRCh38] Chr18:56204211 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4415A>G (p.Glu1472Gly) |
single nucleotide variant |
not specified [RCV004050658] |
Chr18:58535772 [GRCh38] Chr18:56203004 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1586G>A (p.Arg529Lys) |
single nucleotide variant |
not specified [RCV004057331] |
Chr18:58579190 [GRCh38] Chr18:56246422 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.27G>A (p.Arg9=) |
single nucleotide variant |
not specified [RCV004062256] |
Chr18:58611771 [GRCh38] Chr18:56279003 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.3870C>G (p.Pro1290=) |
single nucleotide variant |
not specified [RCV004048257] |
Chr18:58536317 [GRCh38] Chr18:56203549 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3923C>T (p.Ala1308Val) |
single nucleotide variant |
not specified [RCV004050407] |
Chr18:58536264 [GRCh38] Chr18:56203496 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2813G>C (p.Gly938Ala) |
single nucleotide variant |
not specified [RCV004062299] |
Chr18:58537374 [GRCh38] Chr18:56204606 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5913C>A (p.Ile1971=) |
single nucleotide variant |
not specified [RCV004054260] |
Chr18:58516935 [GRCh38] Chr18:56184167 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1458C>T (p.Asn486=) |
single nucleotide variant |
not specified [RCV004057940] |
Chr18:58579318 [GRCh38] Chr18:56246550 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2561C>T (p.Ser854Phe) |
single nucleotide variant |
not specified [RCV004062229] |
Chr18:58537626 [GRCh38] Chr18:56204858 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4283A>C (p.Gln1428Pro) |
single nucleotide variant |
not specified [RCV004049909] |
Chr18:58535904 [GRCh38] Chr18:56203136 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4287C>A (p.Gly1429=) |
single nucleotide variant |
not specified [RCV004049918] |
Chr18:58535900 [GRCh38] Chr18:56203132 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4288G>T (p.Ala1430Ser) |
single nucleotide variant |
not specified [RCV004049921] |
Chr18:58535899 [GRCh38] Chr18:56203131 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5220G>A (p.Leu1740=) |
single nucleotide variant |
not specified [RCV004052227] |
Chr18:58534967 [GRCh38] Chr18:56202199 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.522C>T (p.Leu174=) |
single nucleotide variant |
not specified [RCV004052237] |
Chr18:58580254 [GRCh38] Chr18:56247486 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5236G>A (p.Glu1746Lys) |
single nucleotide variant |
not specified [RCV004052248] |
Chr18:58534951 [GRCh38] Chr18:56202183 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5240A>C (p.Asn1747Thr) |
single nucleotide variant |
not specified [RCV004052261] |
Chr18:58534947 [GRCh38] Chr18:56202179 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5243T>A (p.Ile1748Asn) |
single nucleotide variant |
not specified [RCV004052265] |
Chr18:58534944 [GRCh38] Chr18:56202176 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5244C>A (p.Ile1748=) |
single nucleotide variant |
not specified [RCV004052267] |
Chr18:58534943 [GRCh38] Chr18:56202175 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.433C>T (p.His145Tyr) |
single nucleotide variant |
not specified [RCV004050018] |
Chr18:58580343 [GRCh38] Chr18:56247575 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5292A>T (p.Ser1764=) |
single nucleotide variant |
not specified [RCV004052348] |
Chr18:58534895 [GRCh38] Chr18:56202127 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.529T>C (p.Leu177=) |
single nucleotide variant |
not specified [RCV004052362] |
Chr18:58580247 [GRCh38] Chr18:56247479 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5695A>C (p.Ile1899Leu) |
single nucleotide variant |
not specified [RCV004053713] |
Chr18:58517153 [GRCh38] Chr18:56184385 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5697C>A (p.Ile1899=) |
single nucleotide variant |
not specified [RCV004053714] |
Chr18:58517151 [GRCh38] Chr18:56184383 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1875A>G (p.Glu625=) |
single nucleotide variant |
not specified [RCV004060127] |
Chr18:58578901 [GRCh38] Chr18:56246133 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.596C>G (p.Thr199Ser) |
single nucleotide variant |
ALPK2-related disorder [RCV003943372]|not specified [RCV004052504] |
Chr18:58580180 [GRCh38] Chr18:56247412 [GRCh37] Chr18:18q21.31 |
likely benign|uncertain significance |
NM_052947.4(ALPK2):c.3256G>A (p.Val1086Ile) |
single nucleotide variant |
not specified [RCV004049367] |
Chr18:58536931 [GRCh38] Chr18:56204163 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5791C>T (p.Arg1931Cys) |
single nucleotide variant |
not specified [RCV004054094] |
Chr18:58517057 [GRCh38] Chr18:56184289 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2684C>T (p.Thr895Ile) |
single nucleotide variant |
not specified [RCV004063633] |
Chr18:58537503 [GRCh38] Chr18:56204735 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4431G>A (p.Gln1477=) |
single nucleotide variant |
not specified [RCV004050692] |
Chr18:58535756 [GRCh38] Chr18:56202988 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4751T>C (p.Val1584Ala) |
single nucleotide variant |
not specified [RCV004052071] |
Chr18:58535436 [GRCh38] Chr18:56202668 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1906C>A (p.Gln636Lys) |
single nucleotide variant |
not specified [RCV004060793] |
Chr18:58578870 [GRCh38] Chr18:56246102 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4263G>C (p.Glu1421Asp) |
single nucleotide variant |
not specified [RCV004049866] |
Chr18:58535924 [GRCh38] Chr18:56203156 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5576G>A (p.Cys1859Tyr) |
single nucleotide variant |
not specified [RCV004053543] |
Chr18:58523988 [GRCh38] Chr18:56191220 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5586C>G (p.Asn1862Lys) |
single nucleotide variant |
not specified [RCV004053559] |
Chr18:58523978 [GRCh38] Chr18:56191210 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5586C>T (p.Asn1862=) |
single nucleotide variant |
not specified [RCV004053560] |
Chr18:58523978 [GRCh38] Chr18:56191210 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5944T>C (p.Cys1982Arg) |
single nucleotide variant |
not specified [RCV004052479] |
Chr18:58515078 [GRCh38] Chr18:56182310 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2188C>T (p.Pro730Ser) |
single nucleotide variant |
not specified [RCV004061168] |
Chr18:58537999 [GRCh38] Chr18:56205231 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.873C>G (p.Ala291=) |
single nucleotide variant |
not specified [RCV004056672] |
Chr18:58579903 [GRCh38] Chr18:56247135 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1416C>A (p.Ser472Arg) |
single nucleotide variant |
not specified [RCV004057204] |
Chr18:58579360 [GRCh38] Chr18:56246592 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1134C>G (p.Leu378=) |
single nucleotide variant |
not specified [RCV004049316] |
Chr18:58579642 [GRCh38] Chr18:56246874 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5785G>T (p.Val1929Phe) |
single nucleotide variant |
not specified [RCV004054085] |
Chr18:58517063 [GRCh38] Chr18:56184295 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1209T>A (p.His403Gln) |
single nucleotide variant |
not specified [RCV004054088] |
Chr18:58579567 [GRCh38] Chr18:56246799 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5790C>T (p.His1930=) |
single nucleotide variant |
not specified [RCV004054092] |
Chr18:58517058 [GRCh38] Chr18:56184290 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4764G>A (p.Arg1588=) |
single nucleotide variant |
not specified [RCV004052082] |
Chr18:58535423 [GRCh38] Chr18:56202655 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2148T>C (p.Gly716=) |
single nucleotide variant |
not specified [RCV004061019] |
Chr18:58538039 [GRCh38] Chr18:56205271 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5920A>G (p.Asn1974Asp) |
single nucleotide variant |
not specified [RCV004054270] |
Chr18:58516928 [GRCh38] Chr18:56184160 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.86C>T (p.Ala29Val) |
single nucleotide variant |
ALPK2-related disorder [RCV003961028]|not specified [RCV004056646] |
Chr18:58611712 [GRCh38] Chr18:56278944 [GRCh37] Chr18:18q21.32 |
benign|uncertain significance |
NM_052947.4(ALPK2):c.2957G>C (p.Trp986Ser) |
single nucleotide variant |
not specified [RCV004065345] |
Chr18:58537230 [GRCh38] Chr18:56204462 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.43T>C (p.Leu15=) |
single nucleotide variant |
not specified [RCV004050635] |
Chr18:58611755 [GRCh38] Chr18:56278987 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.4030G>C (p.Asp1344His) |
single nucleotide variant |
not specified [RCV004051168] |
Chr18:58536157 [GRCh38] Chr18:56203389 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3219T>G (p.Leu1073=) |
single nucleotide variant |
not specified [RCV004048998] |
Chr18:58536968 [GRCh38] Chr18:56204200 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1132C>A (p.Leu378Ile) |
single nucleotide variant |
not specified [RCV004048924] |
Chr18:58579644 [GRCh38] Chr18:56246876 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1763C>T (p.Ala588Val) |
single nucleotide variant |
not specified [RCV004061348] |
Chr18:58579013 [GRCh38] Chr18:56246245 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.735T>A (p.Gly245=) |
single nucleotide variant |
not specified [RCV004055933] |
Chr18:58580041 [GRCh38] Chr18:56247273 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2425G>T (p.Ala809Ser) |
single nucleotide variant |
not specified [RCV004063756] |
Chr18:58537762 [GRCh38] Chr18:56204994 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4347G>A (p.Pro1449=) |
single nucleotide variant |
not specified [RCV004050032] |
Chr18:58535840 [GRCh38] Chr18:56203072 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4937C>T (p.Ser1646Phe) |
single nucleotide variant |
not specified [RCV004050255] |
Chr18:58535250 [GRCh38] Chr18:56202482 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4352T>C (p.Ile1451Thr) |
single nucleotide variant |
ALPK2-related disorder [RCV003903674]|not specified [RCV004050044] |
Chr18:58535835 [GRCh38] Chr18:56203067 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.4938T>C (p.Ser1646=) |
single nucleotide variant |
not specified [RCV004050256] |
Chr18:58535249 [GRCh38] Chr18:56202481 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1921T>C (p.Phe641Leu) |
single nucleotide variant |
not specified [RCV004060865] |
Chr18:58578855 [GRCh38] Chr18:56246087 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5574C>T (p.Cys1858=) |
single nucleotide variant |
not specified [RCV004053541] |
Chr18:58523990 [GRCh38] Chr18:56191222 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5381C>T (p.Ala1794Val) |
single nucleotide variant |
not specified [RCV004052993] |
Chr18:58529211 [GRCh38] Chr18:56196443 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5392C>T (p.Pro1798Ser) |
single nucleotide variant |
not specified [RCV004053009] |
Chr18:58529200 [GRCh38] Chr18:56196432 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5662A>G (p.Lys1888Glu) |
single nucleotide variant |
not specified [RCV004053675] |
Chr18:58523809 [GRCh38] Chr18:56191041 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6479C>A (p.Ala2160Glu) |
single nucleotide variant |
not specified [RCV004054040] |
Chr18:58481857 [GRCh38] Chr18:56149089 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4092A>C (p.Gly1364=) |
single nucleotide variant |
not specified [RCV004051307] |
Chr18:58536095 [GRCh38] Chr18:56203327 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4092A>T (p.Gly1364=) |
single nucleotide variant |
not specified [RCV004051308] |
Chr18:58536095 [GRCh38] Chr18:56203327 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4107T>C (p.Val1369=) |
single nucleotide variant |
not specified [RCV004051341] |
Chr18:58536080 [GRCh38] Chr18:56203312 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4784G>C (p.Arg1595Pro) |
single nucleotide variant |
not specified [RCV004052127] |
Chr18:58535403 [GRCh38] Chr18:56202635 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4792C>A (p.Pro1598Thr) |
single nucleotide variant |
not specified [RCV004052143] |
Chr18:58535395 [GRCh38] Chr18:56202627 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2157T>C (p.His719=) |
single nucleotide variant |
not specified [RCV004061056] |
Chr18:58538030 [GRCh38] Chr18:56205262 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1602T>C (p.Ser534=) |
single nucleotide variant |
not specified [RCV004057427] |
Chr18:58579174 [GRCh38] Chr18:56246406 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4277C>T (p.Thr1426Ile) |
single nucleotide variant |
not specified [RCV004049893] |
Chr18:58535910 [GRCh38] Chr18:56203142 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4926C>T (p.Pro1642=) |
single nucleotide variant |
not specified [RCV004050234] |
Chr18:58535261 [GRCh38] Chr18:56202493 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4294G>A (p.Glu1432Lys) |
single nucleotide variant |
not specified [RCV004049938] |
Chr18:58535893 [GRCh38] Chr18:56203125 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5628A>C (p.Glu1876Asp) |
single nucleotide variant |
not specified [RCV004053624] |
Chr18:58523936 [GRCh38] Chr18:56191168 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5630T>C (p.Val1877Ala) |
single nucleotide variant |
not specified [RCV004053633] |
Chr18:58523841 [GRCh38] Chr18:56191073 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5631T>A (p.Val1877=) |
single nucleotide variant |
not specified [RCV004053634] |
Chr18:58523840 [GRCh38] Chr18:56191072 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2973A>C (p.Thr991=) |
single nucleotide variant |
not specified [RCV004065405] |
Chr18:58537214 [GRCh38] Chr18:56204446 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1035A>T (p.Gln345His) |
single nucleotide variant |
not specified [RCV004057239] |
Chr18:58579741 [GRCh38] Chr18:56246973 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6478G>A (p.Ala2160Thr) |
single nucleotide variant |
not specified [RCV004054039] |
Chr18:58481858 [GRCh38] Chr18:56149090 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2685C>T (p.Thr895=) |
single nucleotide variant |
not specified [RCV004063637] |
Chr18:58537502 [GRCh38] Chr18:56204734 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1175G>C (p.Gly392Ala) |
single nucleotide variant |
not specified [RCV004050691] |
Chr18:58579601 [GRCh38] Chr18:56246833 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4089T>A (p.Thr1363=) |
single nucleotide variant |
not specified [RCV004051297] |
Chr18:58536098 [GRCh38] Chr18:56203330 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3292A>T (p.Asn1098Tyr) |
single nucleotide variant |
not specified [RCV004049474] |
Chr18:58536895 [GRCh38] Chr18:56204127 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.214T>A (p.Leu72Ile) |
single nucleotide variant |
not specified [RCV004061031] |
Chr18:58607335 [GRCh38] Chr18:56274567 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1293C>G (p.Leu431=) |
single nucleotide variant |
not specified [RCV004058206] |
Chr18:58579483 [GRCh38] Chr18:56246715 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2154G>A (p.Gln718=) |
single nucleotide variant |
not specified [RCV004061048] |
Chr18:58538033 [GRCh38] Chr18:56205265 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.595A>G (p.Thr199Ala) |
single nucleotide variant |
not specified [RCV004052492] |
Chr18:58580181 [GRCh38] Chr18:56247413 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3238C>T (p.Pro1080Ser) |
single nucleotide variant |
not specified [RCV004049312] |
Chr18:58536949 [GRCh38] Chr18:56204181 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5778A>G (p.Gly1926=) |
single nucleotide variant |
not specified [RCV004054076] |
Chr18:58517070 [GRCh38] Chr18:56184302 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1773T>C (p.Thr591=) |
single nucleotide variant |
not specified [RCV004061407] |
Chr18:58579003 [GRCh38] Chr18:56246235 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4083T>C (p.Ser1361=) |
single nucleotide variant |
not specified [RCV004051288] |
Chr18:58536104 [GRCh38] Chr18:56203336 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1593A>G (p.Ser531=) |
single nucleotide variant |
not specified [RCV004057370] |
Chr18:58579183 [GRCh38] Chr18:56246415 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1561G>A (p.Gly521Arg) |
single nucleotide variant |
not specified [RCV004059133] |
Chr18:58579215 [GRCh38] Chr18:56246447 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1561G>T (p.Gly521Trp) |
single nucleotide variant |
not specified [RCV004059136] |
Chr18:58579215 [GRCh38] Chr18:56246447 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.444G>A (p.Lys148=) |
single nucleotide variant |
not specified [RCV004050722] |
Chr18:58580332 [GRCh38] Chr18:56247564 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2467G>T (p.Val823Phe) |
single nucleotide variant |
not specified [RCV004063914] |
Chr18:58537720 [GRCh38] Chr18:56204952 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.705G>C (p.Val235=) |
single nucleotide variant |
not specified [RCV004055203] |
Chr18:58580071 [GRCh38] Chr18:56247303 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.463C>G (p.Pro155Ala) |
single nucleotide variant |
not specified [RCV004051555] |
Chr18:58580313 [GRCh38] Chr18:56247545 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4652C>T (p.Ala1551Val) |
single nucleotide variant |
not specified [RCV004051581] |
Chr18:58535535 [GRCh38] Chr18:56202767 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4950G>A (p.Ala1650=) |
single nucleotide variant |
not specified [RCV004050279] |
Chr18:58535237 [GRCh38] Chr18:56202469 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4956C>T (p.Thr1652=) |
single nucleotide variant |
not specified [RCV004050283] |
Chr18:58535231 [GRCh38] Chr18:56202463 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4959G>A (p.Leu1653=) |
single nucleotide variant |
not specified [RCV004050285] |
Chr18:58535228 [GRCh38] Chr18:56202460 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1204G>A (p.Gly402Ser) |
single nucleotide variant |
not specified [RCV004053553] |
Chr18:58579572 [GRCh38] Chr18:56246804 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5585A>C (p.Asn1862Thr) |
single nucleotide variant |
not specified [RCV004053558] |
Chr18:58523979 [GRCh38] Chr18:56191211 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5338A>C (p.Lys1780Gln) |
single nucleotide variant |
not specified [RCV004052418] |
Chr18:58534849 [GRCh38] Chr18:56202081 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.168C>T (p.Gly56=) |
single nucleotide variant |
not specified [RCV004059928] |
Chr18:58607381 [GRCh38] Chr18:56274613 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.5341A>C (p.Arg1781=) |
single nucleotide variant |
not specified [RCV004052427] |
Chr18:58534846 [GRCh38] Chr18:56202078 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.534C>T (p.Gly178=) |
single nucleotide variant |
not specified [RCV004052438] |
Chr18:58580242 [GRCh38] Chr18:56247474 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.535A>T (p.Asn179Tyr) |
single nucleotide variant |
not specified [RCV004052453] |
Chr18:58580241 [GRCh38] Chr18:56247473 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1217A>C (p.Gln406Pro) |
single nucleotide variant |
not specified [RCV004053319] |
Chr18:58579559 [GRCh38] Chr18:56246791 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5655G>A (p.Gln1885=) |
single nucleotide variant |
not specified [RCV004053661] |
Chr18:58523816 [GRCh38] Chr18:56191048 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6491C>T (p.Thr2164Ile) |
single nucleotide variant |
not specified [RCV004054317] |
Chr18:58481845 [GRCh38] Chr18:56149077 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3511C>A (p.Pro1171Thr) |
single nucleotide variant |
not specified [RCV004048696] |
Chr18:58536676 [GRCh38] Chr18:56203908 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1164G>A (p.Ser388=) |
single nucleotide variant |
not specified [RCV004051326] |
Chr18:58579612 [GRCh38] Chr18:56246844 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4113T>C (p.Asn1371=) |
single nucleotide variant |
not specified [RCV004051360] |
Chr18:58536074 [GRCh38] Chr18:56203306 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3754C>G (p.Arg1252Gly) |
single nucleotide variant |
not specified [RCV004048018] |
Chr18:58536433 [GRCh38] Chr18:56203665 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3759A>G (p.Gln1253=) |
single nucleotide variant |
not specified [RCV004048023] |
Chr18:58536428 [GRCh38] Chr18:56203660 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.480A>C (p.Ser160=) |
single nucleotide variant |
not specified [RCV004052164] |
Chr18:58580296 [GRCh38] Chr18:56247528 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1707A>G (p.Glu569=) |
single nucleotide variant |
not specified [RCV004060550] |
Chr18:58579069 [GRCh38] Chr18:56246301 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4810G>A (p.Asp1604Asn) |
single nucleotide variant |
not specified [RCV004052172] |
Chr18:58535377 [GRCh38] Chr18:56202609 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1154C>A (p.Ser385Tyr) |
single nucleotide variant |
not specified [RCV004048080] |
Chr18:58579622 [GRCh38] Chr18:56246854 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3789C>T (p.Asp1263=) |
single nucleotide variant |
not specified [RCV004048089] |
Chr18:58536398 [GRCh38] Chr18:56203630 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4817C>T (p.Thr1606Ile) |
single nucleotide variant |
not specified [RCV004052177] |
Chr18:58535370 [GRCh38] Chr18:56202602 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.877A>G (p.Lys293Glu) |
single nucleotide variant |
not specified [RCV004056704] |
Chr18:58579899 [GRCh38] Chr18:56247131 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.34C>G (p.Leu12Val) |
single nucleotide variant |
not specified [RCV004048671] |
Chr18:58611764 [GRCh38] Chr18:56278996 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2981C>A (p.Ala994Asp) |
single nucleotide variant |
not specified [RCV004065426] |
Chr18:58537206 [GRCh38] Chr18:56204438 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.326A>G (p.Glu109Gly) |
single nucleotide variant |
not specified [RCV004049402] |
Chr18:58580450 [GRCh38] Chr18:56247682 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3270A>T (p.Pro1090=) |
single nucleotide variant |
not specified [RCV004049409] |
Chr18:58536917 [GRCh38] Chr18:56204149 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3273G>A (p.Glu1091=) |
single nucleotide variant |
not specified [RCV004049411] |
Chr18:58536914 [GRCh38] Chr18:56204146 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5803C>G (p.Arg1935Gly) |
single nucleotide variant |
not specified [RCV004054118] |
Chr18:58517045 [GRCh38] Chr18:56184277 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6074C>T (p.Pro2025Leu) |
single nucleotide variant |
not specified [RCV004052661] |
Chr18:58504104 [GRCh38] Chr18:56171336 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.15A>C (p.Glu5Asp) |
single nucleotide variant |
not specified [RCV004057407] |
Chr18:58611783 [GRCh38] Chr18:56279015 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4789A>C (p.Lys1597Gln) |
single nucleotide variant |
not specified [RCV004052133] |
Chr18:58535398 [GRCh38] Chr18:56202630 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4795T>C (p.Leu1599=) |
single nucleotide variant |
not specified [RCV004052148] |
Chr18:58535392 [GRCh38] Chr18:56202624 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4452T>C (p.Pro1484=) |
single nucleotide variant |
not specified [RCV004050724] |
Chr18:58535735 [GRCh38] Chr18:56202967 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4466C>G (p.Thr1489Ser) |
single nucleotide variant |
not specified [RCV004050749] |
Chr18:58535721 [GRCh38] Chr18:56202953 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.465G>A (p.Pro155=) |
single nucleotide variant |
not specified [RCV004051589] |
Chr18:58580311 [GRCh38] Chr18:56247543 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.465G>T (p.Pro155=) |
single nucleotide variant |
not specified [RCV004051590] |
Chr18:58580311 [GRCh38] Chr18:56247543 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4673A>C (p.His1558Pro) |
single nucleotide variant |
not specified [RCV004051612] |
Chr18:58535514 [GRCh38] Chr18:56202746 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4682C>G (p.Thr1561Arg) |
single nucleotide variant |
not specified [RCV004051971] |
Chr18:58535505 [GRCh38] Chr18:56202737 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.495C>T (p.Pro165=) |
single nucleotide variant |
not specified [RCV004050292] |
Chr18:58580281 [GRCh38] Chr18:56247513 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4362T>G (p.Val1454=) |
single nucleotide variant |
not specified [RCV004050059] |
Chr18:58535825 [GRCh38] Chr18:56203057 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4961C>T (p.Ala1654Val) |
single nucleotide variant |
not specified [RCV004050300] |
Chr18:58535226 [GRCh38] Chr18:56202458 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5592C>T (p.Tyr1864=) |
single nucleotide variant |
not specified [RCV004053570] |
Chr18:58523972 [GRCh38] Chr18:56191204 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5599G>C (p.Val1867Leu) |
single nucleotide variant |
not specified [RCV004053574] |
Chr18:58523965 [GRCh38] Chr18:56191197 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.55C>T (p.Leu19Phe) |
single nucleotide variant |
not specified [RCV004053578] |
Chr18:58611743 [GRCh38] Chr18:56278975 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.5604T>G (p.Thr1868=) |
single nucleotide variant |
not specified [RCV004053587] |
Chr18:58523960 [GRCh38] Chr18:56191192 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.536A>G (p.Asn179Ser) |
single nucleotide variant |
not specified [RCV004052463] |
Chr18:58580240 [GRCh38] Chr18:56247472 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1720C>G (p.Pro574Ala) |
single nucleotide variant |
not specified [RCV004060621] |
Chr18:58579056 [GRCh38] Chr18:56246288 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5373G>T (p.Lys1791Asn) |
single nucleotide variant |
not specified [RCV004052466] |
Chr18:58529219 [GRCh38] Chr18:56196451 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1722A>G (p.Pro574=) |
single nucleotide variant |
not specified [RCV004060634] |
Chr18:58579054 [GRCh38] Chr18:56246286 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5691A>G (p.Gln1897=) |
single nucleotide variant |
not specified [RCV004053709] |
Chr18:58517157 [GRCh38] Chr18:56184389 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5708A>C (p.Asp1903Ala) |
single nucleotide variant |
not specified [RCV004053733] |
Chr18:58517140 [GRCh38] Chr18:56184372 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2566A>T (p.Asn856Tyr) |
single nucleotide variant |
not specified [RCV004062760] |
Chr18:58537621 [GRCh38] Chr18:56204853 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3531A>C (p.Ala1177=) |
single nucleotide variant |
not specified [RCV004048754] |
Chr18:58536656 [GRCh38] Chr18:56203888 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3540G>T (p.Arg1180Ser) |
single nucleotide variant |
not specified [RCV004049078] |
Chr18:58536647 [GRCh38] Chr18:56203879 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4677C>T (p.Asn1559=) |
single nucleotide variant |
not specified [RCV004051617] |
Chr18:58535510 [GRCh38] Chr18:56202742 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.824C>G (p.Pro275Arg) |
single nucleotide variant |
not specified [RCV004055570] |
Chr18:58579952 [GRCh38] Chr18:56247184 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.467G>C (p.Gly156Ala) |
single nucleotide variant |
not specified [RCV004051968] |
Chr18:58580309 [GRCh38] Chr18:56247541 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3831T>C (p.Asp1277=) |
single nucleotide variant |
not specified [RCV004048175] |
Chr18:58536356 [GRCh38] Chr18:56203588 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1308C>T (p.His436=) |
single nucleotide variant |
not specified [RCV004058291] |
Chr18:58579468 [GRCh38] Chr18:56246700 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1673C>A (p.Thr558Lys) |
single nucleotide variant |
not specified [RCV004059842] |
Chr18:58579103 [GRCh38] Chr18:56246335 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.364G>C (p.Asp122His) |
single nucleotide variant |
not specified [RCV004049572] |
Chr18:58580412 [GRCh38] Chr18:56247644 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3677G>A (p.Arg1226Lys) |
single nucleotide variant |
not specified [RCV004049641] |
Chr18:58536510 [GRCh38] Chr18:56203742 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3695C>G (p.Ala1232Gly) |
single nucleotide variant |
not specified [RCV004049683] |
Chr18:58536492 [GRCh38] Chr18:56203724 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5323A>G (p.Lys1775Glu) |
single nucleotide variant |
not specified [RCV004052398] |
Chr18:58534864 [GRCh38] Chr18:56202096 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.939G>T (p.Glu313Asp) |
single nucleotide variant |
not specified [RCV004599337] |
Chr18:58579837 [GRCh38] Chr18:56247069 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.946C>T (p.Leu316=) |
single nucleotide variant |
not specified [RCV004056838] |
Chr18:58579830 [GRCh38] Chr18:56247062 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.948A>G (p.Leu316=) |
single nucleotide variant |
not specified [RCV004056846] |
Chr18:58579828 [GRCh38] Chr18:56247060 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2581G>A (p.Glu861Lys) |
single nucleotide variant |
not specified [RCV004062809] |
Chr18:58537606 [GRCh38] Chr18:56204838 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2279T>A (p.Leu760His) |
single nucleotide variant |
not specified [RCV004062532] |
Chr18:58537908 [GRCh38] Chr18:56205140 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4122A>G (p.Gln1374=) |
single nucleotide variant |
not specified [RCV004051725] |
Chr18:58536065 [GRCh38] Chr18:56203297 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2280C>T (p.Leu760=) |
single nucleotide variant |
not specified [RCV004062535] |
Chr18:58537907 [GRCh38] Chr18:56205139 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6123C>T (p.Ser2041=) |
single nucleotide variant |
not specified [RCV004053278] |
Chr18:58504055 [GRCh38] Chr18:56171287 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6127A>T (p.Arg2043Trp) |
single nucleotide variant |
not specified [RCV004053285] |
Chr18:58504051 [GRCh38] Chr18:56171283 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3810C>T (p.Asp1270=) |
single nucleotide variant |
not specified [RCV004048140] |
Chr18:58536377 [GRCh38] Chr18:56203609 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.482C>G (p.Ala161Gly) |
single nucleotide variant |
not specified [RCV004052201] |
Chr18:58580294 [GRCh38] Chr18:56247526 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1026A>G (p.Ala342=) |
single nucleotide variant |
not specified [RCV004058276] |
Chr18:58579750 [GRCh38] Chr18:56246982 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4832C>A (p.Thr1611Asn) |
single nucleotide variant |
not specified [RCV004052208] |
Chr18:58535355 [GRCh38] Chr18:56202587 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4837T>C (p.Ser1613Pro) |
single nucleotide variant |
not specified [RCV004052211] |
Chr18:58535350 [GRCh38] Chr18:56202582 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6498C>A (p.Gly2166=) |
single nucleotide variant |
not specified [RCV004054322] |
Chr18:58481838 [GRCh38] Chr18:56149070 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3512C>T (p.Pro1171Leu) |
single nucleotide variant |
not specified [RCV004048699] |
Chr18:58536675 [GRCh38] Chr18:56203907 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3513C>T (p.Pro1171=) |
single nucleotide variant |
not specified [RCV004048701] |
Chr18:58536674 [GRCh38] Chr18:56203906 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1429G>A (p.Glu477Lys) |
single nucleotide variant |
not specified [RCV004057791] |
Chr18:58579347 [GRCh38] Chr18:56246579 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.270A>G (p.Lys90=) |
single nucleotide variant |
not specified [RCV004063717] |
Chr18:58580506 [GRCh38] Chr18:56247738 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6086T>A (p.Val2029Glu) |
single nucleotide variant |
not specified [RCV004052690] |
Chr18:58504092 [GRCh38] Chr18:56171324 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4110C>T (p.Asn1370=) |
single nucleotide variant |
not specified [RCV004051348] |
Chr18:58536077 [GRCh38] Chr18:56203309 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.609T>C (p.Tyr203=) |
single nucleotide variant |
not specified [RCV004052719] |
Chr18:58580167 [GRCh38] Chr18:56247399 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2275C>T (p.His759Tyr) |
single nucleotide variant |
not specified [RCV004062520] |
Chr18:58537912 [GRCh38] Chr18:56205144 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2276A>G (p.His759Arg) |
single nucleotide variant |
not specified [RCV004062523] |
Chr18:58537911 [GRCh38] Chr18:56205143 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6105A>G (p.Gly2035=) |
single nucleotide variant |
not specified [RCV004053251] |
Chr18:58504073 [GRCh38] Chr18:56171305 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6105A>T (p.Gly2035=) |
single nucleotide variant |
not specified [RCV004053252] |
Chr18:58504073 [GRCh38] Chr18:56171305 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1025C>A (p.Ala342Glu) |
single nucleotide variant |
not specified [RCV004058232] |
Chr18:58579751 [GRCh38] Chr18:56246983 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4469C>T (p.Ala1490Val) |
single nucleotide variant |
not specified [RCV004050755] |
Chr18:58535718 [GRCh38] Chr18:56202950 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4473T>C (p.Ile1491=) |
single nucleotide variant |
not specified [RCV004050765] |
Chr18:58535714 [GRCh38] Chr18:56202946 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.469A>G (p.Thr157Ala) |
single nucleotide variant |
not specified [RCV004051995] |
Chr18:58580307 [GRCh38] Chr18:56247539 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.192T>G (p.Phe64Leu) |
single nucleotide variant |
not specified [RCV004060906] |
Chr18:58607357 [GRCh38] Chr18:56274589 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4984T>C (p.Leu1662=) |
single nucleotide variant |
not specified [RCV004050327] |
Chr18:58535203 [GRCh38] Chr18:56202435 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5611T>C (p.Phe1871Leu) |
single nucleotide variant |
not specified [RCV004053595] |
Chr18:58523953 [GRCh38] Chr18:56191185 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5616C>T (p.Asn1872=) |
single nucleotide variant |
not specified [RCV004053601] |
Chr18:58523948 [GRCh38] Chr18:56191180 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1850C>T (p.Thr617Ile) |
single nucleotide variant |
not specified [RCV004060023] |
Chr18:58578926 [GRCh38] Chr18:56246158 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5560G>C (p.Gly1854Arg) |
single nucleotide variant |
not specified [RCV004053237] |
Chr18:58524004 [GRCh38] Chr18:56191236 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5562A>G (p.Gly1854=) |
single nucleotide variant |
not specified [RCV004053239] |
Chr18:58524002 [GRCh38] Chr18:56191234 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5564T>C (p.Leu1855Pro) |
single nucleotide variant |
not specified [RCV004053241] |
Chr18:58524000 [GRCh38] Chr18:56191232 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2056A>T (p.Thr686Ser) |
single nucleotide variant |
not specified [RCV004059660] |
Chr18:58538131 [GRCh38] Chr18:56205363 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.949A>C (p.Thr317Pro) |
single nucleotide variant |
not specified [RCV004056854] |
Chr18:58579827 [GRCh38] Chr18:56247059 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2586C>T (p.Val862=) |
single nucleotide variant |
not specified [RCV004062827] |
Chr18:58537601 [GRCh38] Chr18:56204833 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3134A>G (p.His1045Arg) |
single nucleotide variant |
not specified [RCV004048423] |
Chr18:58537053 [GRCh38] Chr18:56204285 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2406T>C (p.Cys802=) |
single nucleotide variant |
not specified [RCV004063432] |
Chr18:58537781 [GRCh38] Chr18:56205013 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1542G>A (p.Thr514=) |
single nucleotide variant |
ALPK2-related disorder [RCV003943392]|not specified [RCV004059025] |
Chr18:58579234 [GRCh38] Chr18:56246466 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1547C>T (p.Ala516Val) |
single nucleotide variant |
not specified [RCV004059043] |
Chr18:58579229 [GRCh38] Chr18:56246461 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.870G>T (p.Val290=) |
single nucleotide variant |
not specified [RCV004056659] |
Chr18:58579906 [GRCh38] Chr18:56247138 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3848C>G (p.Ala1283Gly) |
single nucleotide variant |
not specified [RCV004048201] |
Chr18:58536339 [GRCh38] Chr18:56203571 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1720C>T (p.Pro574Ser) |
single nucleotide variant |
not specified [RCV004060623] |
Chr18:58579056 [GRCh38] Chr18:56246288 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1721C>G (p.Pro574Arg) |
single nucleotide variant |
not specified [RCV004060625] |
Chr18:58579055 [GRCh38] Chr18:56246287 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1676A>C (p.Glu559Ala) |
single nucleotide variant |
not specified [RCV004059852] |
Chr18:58579100 [GRCh38] Chr18:56246332 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4817C>G (p.Thr1606Ser) |
single nucleotide variant |
not specified [RCV004052176] |
Chr18:58535370 [GRCh38] Chr18:56202602 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3602G>A (p.Gly1201Glu) |
single nucleotide variant |
not specified [RCV004049219] |
Chr18:58536585 [GRCh38] Chr18:56203817 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3604G>C (p.Glu1202Gln) |
single nucleotide variant |
not specified [RCV004049223] |
Chr18:58536583 [GRCh38] Chr18:56203815 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.360C>G (p.Asp120Glu) |
single nucleotide variant |
not specified [RCV004049235] |
Chr18:58580416 [GRCh38] Chr18:56247648 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2058C>A (p.Thr686=) |
single nucleotide variant |
not specified [RCV004059665] |
Chr18:58538129 [GRCh38] Chr18:56205361 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.153C>T (p.Ala51=) |
single nucleotide variant |
not specified [RCV004059010] |
Chr18:58607396 [GRCh38] Chr18:56274628 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.4683A>G (p.Thr1561=) |
single nucleotide variant |
not specified [RCV004051972] |
Chr18:58535504 [GRCh38] Chr18:56202736 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5571C>T (p.Tyr1857=) |
single nucleotide variant |
not specified [RCV004053540] |
Chr18:58523993 [GRCh38] Chr18:56191225 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2442G>C (p.Thr814=) |
single nucleotide variant |
not specified [RCV004063832] |
Chr18:58537745 [GRCh38] Chr18:56204977 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.352G>A (p.Glu118Lys) |
single nucleotide variant |
not specified [RCV004048750] |
Chr18:58580424 [GRCh38] Chr18:56247656 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3533G>A (p.Ser1178Asn) |
single nucleotide variant |
not specified [RCV004048758] |
Chr18:58536654 [GRCh38] Chr18:56203886 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6156A>G (p.Arg2052=) |
single nucleotide variant |
ALPK2-related disorder [RCV003933761]|not specified [RCV004053330] |
Chr18:58504022 [GRCh38] Chr18:56171254 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1532G>A (p.Cys511Tyr) |
single nucleotide variant |
not specified [RCV004599352] |
Chr18:58579244 [GRCh38] Chr18:56246476 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4651G>C (p.Ala1551Pro) |
single nucleotide variant |
not specified [RCV004051577] |
Chr18:58535536 [GRCh38] Chr18:56202768 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.675A>C (p.Glu225Asp) |
single nucleotide variant |
not specified [RCV004052772] |
Chr18:58580101 [GRCh38] Chr18:56247333 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.448G>A (p.Glu150Lys) |
single nucleotide variant |
not specified [RCV004050788] |
Chr18:58580328 [GRCh38] Chr18:56247560 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4769C>G (p.Thr1590Ser) |
single nucleotide variant |
not specified [RCV004052091] |
Chr18:58535418 [GRCh38] Chr18:56202650 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4995C>T (p.Ala1665=) |
single nucleotide variant |
not specified [RCV004050853] |
Chr18:58535192 [GRCh38] Chr18:56202424 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4997C>T (p.Pro1666Leu) |
single nucleotide variant |
not specified [RCV004050856] |
Chr18:58535190 [GRCh38] Chr18:56202422 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4998T>C (p.Pro1666=) |
single nucleotide variant |
not specified [RCV004050859] |
Chr18:58535189 [GRCh38] Chr18:56202421 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5643G>A (p.Leu1881=) |
single nucleotide variant |
not specified [RCV004053643] |
Chr18:58523828 [GRCh38] Chr18:56191060 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2505T>C (p.Ile835=) |
single nucleotide variant |
not specified [RCV004062039] |
Chr18:58537682 [GRCh38] Chr18:56204914 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2629A>G (p.Lys877Glu) |
single nucleotide variant |
not specified [RCV004062986] |
Chr18:58537558 [GRCh38] Chr18:56204790 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4722G>A (p.Glu1574=) |
single nucleotide variant |
not specified [RCV004052036] |
Chr18:58535465 [GRCh38] Chr18:56202697 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3211G>A (p.Glu1071Lys) |
single nucleotide variant |
not specified [RCV004048973] |
Chr18:58536976 [GRCh38] Chr18:56204208 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.776C>G (p.Ser259Cys) |
single nucleotide variant |
not specified [RCV004054663] |
Chr18:58580000 [GRCh38] Chr18:56247232 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1808C>G (p.Ala603Gly) |
single nucleotide variant |
not specified [RCV004059300] |
Chr18:58578968 [GRCh38] Chr18:56246200 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2459A>T (p.Asp820Val) |
single nucleotide variant |
not specified [RCV004063890] |
Chr18:58537728 [GRCh38] Chr18:56204960 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3141G>A (p.Lys1047=) |
single nucleotide variant |
not specified [RCV004048452] |
Chr18:58537046 [GRCh38] Chr18:56204278 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.762T>C (p.Asp254=) |
single nucleotide variant |
not specified [RCV004056480] |
Chr18:58580014 [GRCh38] Chr18:56247246 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1543G>A (p.Ala515Thr) |
single nucleotide variant |
not specified [RCV004059027] |
Chr18:58579233 [GRCh38] Chr18:56246465 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.46T>A (p.Ser16Thr) |
single nucleotide variant |
not specified [RCV004052005] |
Chr18:58611752 [GRCh38] Chr18:56278984 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.764A>G (p.Glu255Gly) |
single nucleotide variant |
not specified [RCV004056489] |
Chr18:58580012 [GRCh38] Chr18:56247244 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1346A>T (p.Tyr449Phe) |
single nucleotide variant |
not specified [RCV004058757] |
Chr18:58579430 [GRCh38] Chr18:56246662 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2072T>C (p.Phe691Ser) |
single nucleotide variant |
not specified [RCV004060225] |
Chr18:58538115 [GRCh38] Chr18:56205347 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3130T>G (p.Ser1044Ala) |
single nucleotide variant |
not specified [RCV004048414] |
Chr18:58537057 [GRCh38] Chr18:56204289 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3135T>A (p.His1045Gln) |
single nucleotide variant |
not specified [RCV004048427] |
Chr18:58537052 [GRCh38] Chr18:56204284 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2599C>G (p.Gln867Glu) |
single nucleotide variant |
not specified [RCV004062877] |
Chr18:58537588 [GRCh38] Chr18:56204820 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2401G>A (p.Val801Met) |
single nucleotide variant |
not specified [RCV004063415] |
Chr18:58537786 [GRCh38] Chr18:56205018 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4658T>C (p.Leu1553Pro) |
single nucleotide variant |
not specified [RCV004051584] |
Chr18:58535529 [GRCh38] Chr18:56202761 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4662G>A (p.Gly1554=) |
single nucleotide variant |
not specified [RCV004051594] |
Chr18:58535525 [GRCh38] Chr18:56202757 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.760G>C (p.Asp254His) |
single nucleotide variant |
not specified [RCV004056455] |
Chr18:58580016 [GRCh38] Chr18:56247248 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1671A>G (p.Thr557=) |
single nucleotide variant |
not specified [RCV004059831] |
Chr18:58579105 [GRCh38] Chr18:56246337 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.867C>T (p.Ala289=) |
single nucleotide variant |
not specified [RCV004056618] |
Chr18:58579909 [GRCh38] Chr18:56247141 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3843A>G (p.Ala1281=) |
single nucleotide variant |
not specified [RCV004048191] |
Chr18:58536344 [GRCh38] Chr18:56203576 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5017T>C (p.Cys1673Arg) |
single nucleotide variant |
not specified [RCV004050895] |
Chr18:58535170 [GRCh38] Chr18:56202402 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5018G>C (p.Cys1673Ser) |
single nucleotide variant |
not specified [RCV004050897] |
Chr18:58535169 [GRCh38] Chr18:56202401 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3409G>T (p.Val1137Phe) |
single nucleotide variant |
not specified [RCV004047954] |
Chr18:58536778 [GRCh38] Chr18:56204010 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5655G>T (p.Gln1885His) |
single nucleotide variant |
not specified [RCV004053662] |
Chr18:58523816 [GRCh38] Chr18:56191048 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1942G>T (p.Asp648Tyr) |
single nucleotide variant |
not specified [RCV004060965] |
Chr18:58578834 [GRCh38] Chr18:56246066 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2079C>T (p.Asn693=) |
single nucleotide variant |
not specified [RCV004060250] |
Chr18:58538108 [GRCh38] Chr18:56205340 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2528C>A (p.Ala843Glu) |
single nucleotide variant |
not specified [RCV004062097] |
Chr18:58537659 [GRCh38] Chr18:56204891 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2558G>C (p.Cys853Ser) |
single nucleotide variant |
not specified [RCV004062211] |
Chr18:58537629 [GRCh38] Chr18:56204861 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2744A>G (p.Glu915Gly) |
single nucleotide variant |
not specified [RCV004064090] |
Chr18:58537443 [GRCh38] Chr18:56204675 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5818C>T (p.His1940Tyr) |
single nucleotide variant |
not specified [RCV004054138] |
Chr18:58517030 [GRCh38] Chr18:56184262 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.274T>G (p.Ser92Ala) |
single nucleotide variant |
not specified [RCV004064107] |
Chr18:58580502 [GRCh38] Chr18:56247734 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3916G>C (p.Ala1306Pro) |
single nucleotide variant |
not specified [RCV004050389] |
Chr18:58536271 [GRCh38] Chr18:56203503 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3945A>C (p.Lys1315Asn) |
single nucleotide variant |
not specified [RCV004050447] |
Chr18:58536242 [GRCh38] Chr18:56203474 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1387C>T (p.Pro463Ser) |
single nucleotide variant |
not specified [RCV004057060] |
Chr18:58579389 [GRCh38] Chr18:56246621 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1636C>T (p.Pro546Ser) |
single nucleotide variant |
not specified [RCV004058109] |
Chr18:58579140 [GRCh38] Chr18:56246372 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1639A>G (p.Lys547Glu) |
single nucleotide variant |
not specified [RCV004058126] |
Chr18:58579137 [GRCh38] Chr18:56246369 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.252C>T (p.Val84=) |
single nucleotide variant |
not specified [RCV004062112] |
Chr18:58580524 [GRCh38] Chr18:56247756 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1737T>C (p.Asp579=) |
single nucleotide variant |
not specified [RCV004060720] |
Chr18:58579039 [GRCh38] Chr18:56246271 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1809T>A (p.Ala603=) |
single nucleotide variant |
not specified [RCV004059307] |
Chr18:58578967 [GRCh38] Chr18:56246199 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2073C>G (p.Phe691Leu) |
single nucleotide variant |
not specified [RCV004060230] |
Chr18:58538114 [GRCh38] Chr18:56205346 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2742G>A (p.Val914=) |
single nucleotide variant |
not specified [RCV004064086] |
Chr18:58537445 [GRCh38] Chr18:56204677 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3795T>C (p.Gly1265=) |
single nucleotide variant |
not specified [RCV004048101] |
Chr18:58536392 [GRCh38] Chr18:56203624 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2429G>T (p.Gly810Val) |
single nucleotide variant |
not specified [RCV004063769] |
Chr18:58537758 [GRCh38] Chr18:56204990 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2438G>A (p.Gly813Glu) |
single nucleotide variant |
not specified [RCV004063805] |
Chr18:58537749 [GRCh38] Chr18:56204981 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.830C>G (p.Ser277Cys) |
single nucleotide variant |
not specified [RCV004056028] |
Chr18:58579946 [GRCh38] Chr18:56247178 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2508C>T (p.Cys836=) |
single nucleotide variant |
not specified [RCV004062045] |
Chr18:58537679 [GRCh38] Chr18:56204911 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5811A>T (p.Thr1937=) |
single nucleotide variant |
not specified [RCV004054132] |
Chr18:58517037 [GRCh38] Chr18:56184269 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.313G>C (p.Glu105Gln) |
single nucleotide variant |
not specified [RCV004048449] |
Chr18:58580463 [GRCh38] Chr18:56247695 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.958G>A (p.Glu320Lys) |
single nucleotide variant |
not specified [RCV004056936] |
Chr18:58579818 [GRCh38] Chr18:56247050 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2418T>C (p.Cys806=) |
single nucleotide variant |
not specified [RCV004063473] |
Chr18:58537769 [GRCh38] Chr18:56205001 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4713C>T (p.Asp1571=) |
single nucleotide variant |
not specified [RCV004052019] |
Chr18:58535474 [GRCh38] Chr18:56202706 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5135A>G (p.Lys1712Arg) |
single nucleotide variant |
not specified [RCV004051066] |
Chr18:58535052 [GRCh38] Chr18:56202284 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.879A>G (p.Lys293=) |
single nucleotide variant |
not specified [RCV004056717] |
Chr18:58579897 [GRCh38] Chr18:56247129 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1260C>T (p.His420=) |
single nucleotide variant |
ALPK2-related disorder [RCV003973392]|not specified [RCV004056058] |
Chr18:58579516 [GRCh38] Chr18:56246748 [GRCh37] Chr18:18q21.31 |
benign|likely benign |
NM_052947.4(ALPK2):c.773G>A (p.Arg258His) |
single nucleotide variant |
not specified [RCV004054633] |
Chr18:58580003 [GRCh38] Chr18:56247235 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4841C>T (p.Pro1614Leu) |
single nucleotide variant |
not specified [RCV004052219] |
Chr18:58535346 [GRCh38] Chr18:56202578 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1165G>A (p.Gly389Ser) |
single nucleotide variant |
not specified [RCV004051733] |
Chr18:58579611 [GRCh38] Chr18:56246843 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4130A>C (p.Glu1377Ala) |
single nucleotide variant |
not specified [RCV004051734] |
Chr18:58536057 [GRCh38] Chr18:56203289 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4140A>G (p.Gln1380=) |
single nucleotide variant |
ALPK2-related disorder [RCV003926373]|not specified [RCV004051755] |
Chr18:58536047 [GRCh38] Chr18:56203279 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4141C>T (p.Leu1381Phe) |
single nucleotide variant |
not specified [RCV004051759] |
Chr18:58536046 [GRCh38] Chr18:56203278 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3642C>G (p.Leu1214=) |
single nucleotide variant |
not specified [RCV004049301] |
Chr18:58536545 [GRCh38] Chr18:56203777 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3645T>C (p.Ser1215=) |
single nucleotide variant |
not specified [RCV004049304] |
Chr18:58536542 [GRCh38] Chr18:56203774 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5834T>C (p.Val1945Ala) |
single nucleotide variant |
not specified [RCV004054166] |
Chr18:58517014 [GRCh38] Chr18:56184246 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2771C>T (p.Thr924Ile) |
single nucleotide variant |
not specified [RCV004064181] |
Chr18:58537416 [GRCh38] Chr18:56204648 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3966T>C (p.Ser1322=) |
single nucleotide variant |
not specified [RCV004050496] |
Chr18:58536221 [GRCh38] Chr18:56203453 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5031C>T (p.Thr1677=) |
single nucleotide variant |
not specified [RCV004050917] |
Chr18:58535156 [GRCh38] Chr18:56202388 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2147G>A (p.Gly716Asp) |
single nucleotide variant |
not specified [RCV004061016] |
Chr18:58538040 [GRCh38] Chr18:56205272 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.164G>C (p.Ser55Thr) |
single nucleotide variant |
not specified [RCV004059717] |
Chr18:58607385 [GRCh38] Chr18:56274617 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2548T>A (p.Ser850Thr) |
single nucleotide variant |
not specified [RCV004062179] |
Chr18:58537639 [GRCh38] Chr18:56204871 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2549C>G (p.Ser850Cys) |
single nucleotide variant |
not specified [RCV004062181] |
Chr18:58537638 [GRCh38] Chr18:56204870 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4594G>A (p.Ala1532Thr) |
single nucleotide variant |
not specified [RCV004051481] |
Chr18:58535593 [GRCh38] Chr18:56202825 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4596A>C (p.Ala1532=) |
single nucleotide variant |
not specified [RCV004051482] |
Chr18:58535591 [GRCh38] Chr18:56202823 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1823C>T (p.Ala608Val) |
single nucleotide variant |
not specified [RCV004059390] |
Chr18:58578953 [GRCh38] Chr18:56246185 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4308A>G (p.Ser1436=) |
single nucleotide variant |
not specified [RCV004049964] |
Chr18:58535879 [GRCh38] Chr18:56203111 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.45A>G (p.Leu15=) |
single nucleotide variant |
not specified [RCV004051492] |
Chr18:58611753 [GRCh38] Chr18:56278985 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.4315G>A (p.Gly1439Arg) |
single nucleotide variant |
not specified [RCV004049979] |
Chr18:58535872 [GRCh38] Chr18:56203104 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5829G>A (p.Met1943Ile) |
single nucleotide variant |
not specified [RCV004054148] |
Chr18:58517019 [GRCh38] Chr18:56184251 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2757C>T (p.Tyr919=) |
single nucleotide variant |
not specified [RCV004064126] |
Chr18:58537430 [GRCh38] Chr18:56204662 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1113G>T (p.Leu371=) |
single nucleotide variant |
not specified [RCV004064170] |
Chr18:58579663 [GRCh38] Chr18:56246895 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3921T>C (p.Leu1307=) |
single nucleotide variant |
not specified [RCV004050403] |
Chr18:58536266 [GRCh38] Chr18:56203498 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.396T>C (p.His132=) |
single nucleotide variant |
not specified [RCV004050505] |
Chr18:58580380 [GRCh38] Chr18:56247612 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.397G>A (p.Glu133Lys) |
single nucleotide variant |
not specified [RCV004050525] |
Chr18:58580379 [GRCh38] Chr18:56247611 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.403G>A (p.Glu135Lys) |
single nucleotide variant |
not specified [RCV004051183] |
Chr18:58580373 [GRCh38] Chr18:56247605 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3986C>T (p.Ser1329Phe) |
single nucleotide variant |
not specified [RCV004050536] |
Chr18:58536201 [GRCh38] Chr18:56203433 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3237G>A (p.Val1079=) |
single nucleotide variant |
not specified [RCV004049052] |
Chr18:58536950 [GRCh38] Chr18:56204182 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5817G>A (p.Met1939Ile) |
single nucleotide variant |
not specified [RCV004054135] |
Chr18:58517031 [GRCh38] Chr18:56184263 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5830C>T (p.Pro1944Ser) |
single nucleotide variant |
not specified [RCV004054163] |
Chr18:58517018 [GRCh38] Chr18:56184250 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5831C>A (p.Pro1944His) |
single nucleotide variant |
not specified [RCV004054164] |
Chr18:58517017 [GRCh38] Chr18:56184249 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5842C>T (p.Pro1948Ser) |
single nucleotide variant |
not specified [RCV004599312] |
Chr18:58517006 [GRCh38] Chr18:56184238 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5844T>A (p.Pro1948=) |
single nucleotide variant |
not specified [RCV004054178] |
Chr18:58517004 [GRCh38] Chr18:56184236 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5844T>C (p.Pro1948=) |
single nucleotide variant |
not specified [RCV004054179] |
Chr18:58517004 [GRCh38] Chr18:56184236 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3903G>A (p.Glu1301=) |
single nucleotide variant |
not specified [RCV004050369] |
Chr18:58536284 [GRCh38] Chr18:56203516 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3161A>G (p.Gln1054Arg) |
single nucleotide variant |
not specified [RCV004048506] |
Chr18:58537026 [GRCh38] Chr18:56204258 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4737G>A (p.Gln1579=) |
single nucleotide variant |
not specified [RCV004052052] |
Chr18:58535450 [GRCh38] Chr18:56202682 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1387C>G (p.Pro463Ala) |
single nucleotide variant |
not specified [RCV004057058] |
Chr18:58579389 [GRCh38] Chr18:56246621 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.124G>A (p.Glu42Lys) |
single nucleotide variant |
not specified [RCV004054634] |
Chr18:58607425 [GRCh38] Chr18:56274657 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1758C>G (p.Thr586=) |
single nucleotide variant |
not specified [RCV004061323] |
Chr18:58579018 [GRCh38] Chr18:56246250 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4145A>C (p.Lys1382Thr) |
single nucleotide variant |
not specified [RCV004051765] |
Chr18:58536042 [GRCh38] Chr18:56203274 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4152T>C (p.Asp1384=) |
single nucleotide variant |
not specified [RCV004051784] |
Chr18:58536035 [GRCh38] Chr18:56203267 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4161C>T (p.Ala1387=) |
single nucleotide variant |
not specified [RCV004051808] |
Chr18:58536026 [GRCh38] Chr18:56203258 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3687T>C (p.Asn1229=) |
single nucleotide variant |
not specified [RCV004049669] |
Chr18:58536500 [GRCh38] Chr18:56203732 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1032G>T (p.Trp344Cys) |
single nucleotide variant |
not specified [RCV004057110] |
Chr18:58579744 [GRCh38] Chr18:56246976 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5878A>T (p.Ile1960Phe) |
single nucleotide variant |
not specified [RCV004054218] |
Chr18:58516970 [GRCh38] Chr18:56184202 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4057G>A (p.Val1353Ile) |
single nucleotide variant |
not specified [RCV004051219] |
Chr18:58536130 [GRCh38] Chr18:56203362 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3971A>G (p.His1324Arg) |
single nucleotide variant |
not specified [RCV004050508] |
Chr18:58536216 [GRCh38] Chr18:56203448 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3973T>G (p.Trp1325Gly) |
single nucleotide variant |
not specified [RCV004050511] |
Chr18:58536214 [GRCh38] Chr18:56203446 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3258C>A (p.Val1086=) |
single nucleotide variant |
not specified [RCV004049371] |
Chr18:58536929 [GRCh38] Chr18:56204161 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3260T>G (p.Leu1087Arg) |
single nucleotide variant |
not specified [RCV004049385] |
Chr18:58536927 [GRCh38] Chr18:56204159 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2403G>A (p.Val801=) |
single nucleotide variant |
not specified [RCV004063422] |
Chr18:58537784 [GRCh38] Chr18:56205016 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4217T>A (p.Ile1406Asn) |
single nucleotide variant |
not specified [RCV004051908] |
Chr18:58535970 [GRCh38] Chr18:56203202 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.182A>G (p.Tyr61Cys) |
single nucleotide variant |
not specified [RCV004059411] |
Chr18:58607367 [GRCh38] Chr18:56274599 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4323G>A (p.Met1441Ile) |
single nucleotide variant |
not specified [RCV004049994] |
Chr18:58535864 [GRCh38] Chr18:56203096 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4622T>C (p.Leu1541Pro) |
single nucleotide variant |
not specified [RCV004051528] |
Chr18:58535565 [GRCh38] Chr18:56202797 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4628G>C (p.Ser1543Thr) |
single nucleotide variant |
not specified [RCV004051531] |
Chr18:58535559 [GRCh38] Chr18:56202791 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1180A>G (p.Met394Val) |
single nucleotide variant |
not specified [RCV004051548] |
Chr18:58579596 [GRCh38] Chr18:56246828 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4639A>G (p.Ile1547Val) |
single nucleotide variant |
not specified [RCV004051552] |
Chr18:58535548 [GRCh38] Chr18:56202780 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5872A>G (p.Asn1958Asp) |
single nucleotide variant |
not specified [RCV004054212] |
Chr18:58516976 [GRCh38] Chr18:56184208 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5874T>C (p.Asn1958=) |
single nucleotide variant |
not specified [RCV004054213] |
Chr18:58516974 [GRCh38] Chr18:56184206 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5882C>T (p.Ala1961Val) |
single nucleotide variant |
not provided [RCV003418470]|not specified [RCV004054224] |
Chr18:58516966 [GRCh38] Chr18:56184198 [GRCh37] Chr18:18q21.31 |
likely benign|uncertain significance |
NM_052947.4(ALPK2):c.3630C>T (p.Asn1210=) |
single nucleotide variant |
not specified [RCV004049280] |
Chr18:58536557 [GRCh38] Chr18:56203789 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4063G>A (p.Asp1355Asn) |
single nucleotide variant |
not specified [RCV004051241] |
Chr18:58536124 [GRCh38] Chr18:56203356 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6411C>A (p.Asn2137Lys) |
single nucleotide variant |
not specified [RCV004053958] |
Chr18:58481925 [GRCh38] Chr18:56149157 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5866G>A (p.Val1956Met) |
single nucleotide variant |
not specified [RCV004054204] |
Chr18:58516982 [GRCh38] Chr18:56184214 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3350C>A (p.Ala1117Glu) |
single nucleotide variant |
not specified [RCV004047798] |
Chr18:58536837 [GRCh38] Chr18:56204069 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.243T>C (p.Asp81=) |
single nucleotide variant |
not specified [RCV004063823] |
Chr18:58580533 [GRCh38] Chr18:56247765 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1050G>A (p.Gly350=) |
single nucleotide variant |
not specified [RCV004058136] |
Chr18:58579726 [GRCh38] Chr18:56246958 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5153C>G (p.Pro1718Arg) |
single nucleotide variant |
not specified [RCV004051097] |
Chr18:58535034 [GRCh38] Chr18:56202266 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5159G>A (p.Ser1720Asn) |
single nucleotide variant |
not specified [RCV004051101] |
Chr18:58535028 [GRCh38] Chr18:56202260 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.515T>C (p.Leu172Pro) |
single nucleotide variant |
not specified [RCV004051105] |
Chr18:58580261 [GRCh38] Chr18:56247493 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1757C>T (p.Thr586Ile) |
single nucleotide variant |
not specified [RCV004061317] |
Chr18:58579019 [GRCh38] Chr18:56246251 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4516A>G (p.Ser1506Gly) |
single nucleotide variant |
not specified [RCV004050842] |
Chr18:58535671 [GRCh38] Chr18:56202903 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4519G>A (p.Gly1507Arg) |
single nucleotide variant |
not specified [RCV004050846] |
Chr18:58535668 [GRCh38] Chr18:56202900 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1130T>C (p.Phe377Ser) |
single nucleotide variant |
not specified [RCV004128653] |
Chr18:58579646 [GRCh38] Chr18:56246878 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5479T>C (p.Ser1827Pro) |
single nucleotide variant |
not specified [RCV004207198] |
Chr18:58529113 [GRCh38] Chr18:56196345 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4615T>C (p.Ser1539Pro) |
single nucleotide variant |
not specified [RCV004146243] |
Chr18:58535572 [GRCh38] Chr18:56202804 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1519G>C (p.Gly507Arg) |
single nucleotide variant |
not specified [RCV004169496] |
Chr18:58579257 [GRCh38] Chr18:56246489 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4880T>C (p.Met1627Thr) |
single nucleotide variant |
not specified [RCV004107694] |
Chr18:58535307 [GRCh38] Chr18:56202539 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.32C>T (p.Pro11Leu) |
single nucleotide variant |
not specified [RCV004124806] |
Chr18:58611766 [GRCh38] Chr18:56278998 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.6499G>A (p.Glu2167Lys) |
single nucleotide variant |
not specified [RCV004233477] |
Chr18:58481837 [GRCh38] Chr18:56149069 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3252C>A (p.His1084Gln) |
single nucleotide variant |
not specified [RCV004229758] |
Chr18:58536935 [GRCh38] Chr18:56204167 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5919G>T (p.Arg1973Ser) |
single nucleotide variant |
not specified [RCV004233457] |
Chr18:58516929 [GRCh38] Chr18:56184161 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5284G>A (p.Glu1762Lys) |
single nucleotide variant |
not specified [RCV004233458] |
Chr18:58534903 [GRCh38] Chr18:56202135 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.94C>T (p.Arg32Cys) |
single nucleotide variant |
not specified [RCV004233463] |
Chr18:58611704 [GRCh38] Chr18:56278936 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4610C>A (p.Pro1537His) |
single nucleotide variant |
not specified [RCV004113009] |
Chr18:58535577 [GRCh38] Chr18:56202809 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.13G>A (p.Glu5Lys) |
single nucleotide variant |
not specified [RCV004232756] |
Chr18:58611785 [GRCh38] Chr18:56279017 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.5843C>G (p.Pro1948Arg) |
single nucleotide variant |
not specified [RCV004207522] |
Chr18:58517005 [GRCh38] Chr18:56184237 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.164G>A (p.Ser55Asn) |
single nucleotide variant |
not specified [RCV004070905] |
Chr18:58607385 [GRCh38] Chr18:56274617 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4784G>A (p.Arg1595His) |
single nucleotide variant |
not specified [RCV004211282] |
Chr18:58535403 [GRCh38] Chr18:56202635 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1477G>A (p.Glu493Lys) |
single nucleotide variant |
not specified [RCV004215828] |
Chr18:58579299 [GRCh38] Chr18:56246531 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1157G>A (p.Arg386Gln) |
single nucleotide variant |
not specified [RCV004219128] |
Chr18:58579619 [GRCh38] Chr18:56246851 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3905A>G (p.Asp1302Gly) |
single nucleotide variant |
not specified [RCV004181321] |
Chr18:58536282 [GRCh38] Chr18:56203514 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1340G>A (p.Gly447Glu) |
single nucleotide variant |
not specified [RCV004089640] |
Chr18:58579436 [GRCh38] Chr18:56246668 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.53T>C (p.Leu18Ser) |
single nucleotide variant |
not specified [RCV004329910] |
Chr18:58611745 [GRCh38] Chr18:56278977 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.5827A>T (p.Met1943Leu) |
single nucleotide variant |
not specified [RCV004329911] |
Chr18:58517021 [GRCh38] Chr18:56184253 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5166T>C (p.His1722=) |
single nucleotide variant |
not specified [RCV004329912] |
Chr18:58535021 [GRCh38] Chr18:56202253 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3330G>A (p.Lys1110=) |
single nucleotide variant |
not specified [RCV004329913] |
Chr18:58536857 [GRCh38] Chr18:56204089 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5144C>T (p.Pro1715Leu) |
single nucleotide variant |
not specified [RCV004329916] |
Chr18:58535043 [GRCh38] Chr18:56202275 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3621T>C (p.Ala1207=) |
single nucleotide variant |
not specified [RCV004329918] |
Chr18:58536566 [GRCh38] Chr18:56203798 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4008C>A (p.Pro1336=) |
single nucleotide variant |
not specified [RCV004329920] |
Chr18:58536179 [GRCh38] Chr18:56203411 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5771A>C (p.His1924Pro) |
single nucleotide variant |
not specified [RCV004329921] |
Chr18:58517077 [GRCh38] Chr18:56184309 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3785C>T (p.Ser1262Leu) |
single nucleotide variant |
not specified [RCV004244930] |
Chr18:58536402 [GRCh38] Chr18:56203634 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.263C>T (p.Ser88Leu) |
single nucleotide variant |
not specified [RCV004244942] |
Chr18:58580513 [GRCh38] Chr18:56247745 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5697C>T (p.Ile1899=) |
single nucleotide variant |
not specified [RCV004244948] |
Chr18:58517151 [GRCh38] Chr18:56184383 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6474G>C (p.Lys2158Asn) |
single nucleotide variant |
not specified [RCV004244954] |
Chr18:58481862 [GRCh38] Chr18:56149094 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5859G>A (p.Val1953=) |
single nucleotide variant |
not specified [RCV004244956] |
Chr18:58516989 [GRCh38] Chr18:56184221 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4895T>C (p.Ile1632Thr) |
single nucleotide variant |
not specified [RCV004244957] |
Chr18:58535292 [GRCh38] Chr18:56202524 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2107T>A (p.Ser703Thr) |
single nucleotide variant |
not specified [RCV004244961] |
Chr18:58538080 [GRCh38] Chr18:56205312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4699G>A (p.Val1567Ile) |
single nucleotide variant |
not specified [RCV004244966] |
Chr18:58535488 [GRCh38] Chr18:56202720 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.126G>A (p.Glu42=) |
single nucleotide variant |
not specified [RCV004244969] |
Chr18:58607423 [GRCh38] Chr18:56274655 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.4627A>G (p.Ser1543Gly) |
single nucleotide variant |
not specified [RCV004244970] |
Chr18:58535560 [GRCh38] Chr18:56202792 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4202C>G (p.Ser1401Cys) |
single nucleotide variant |
not specified [RCV004274305] |
Chr18:58535985 [GRCh38] Chr18:56203217 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3171G>A (p.Leu1057=) |
single nucleotide variant |
not specified [RCV004283539] |
Chr18:58537016 [GRCh38] Chr18:56204248 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3469T>A (p.Leu1157Met) |
single nucleotide variant |
not specified [RCV004283567] |
Chr18:58536718 [GRCh38] Chr18:56203950 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4250C>A (p.Ala1417Asp) |
single nucleotide variant |
not specified [RCV004246394] |
Chr18:58535937 [GRCh38] Chr18:56203169 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2227A>T (p.Ile743Phe) |
single nucleotide variant |
not specified [RCV004246464] |
Chr18:58537960 [GRCh38] Chr18:56205192 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5744G>C (p.Arg1915Pro) |
single nucleotide variant |
not specified [RCV004246467] |
Chr18:58517104 [GRCh38] Chr18:56184336 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3941A>G (p.His1314Arg) |
single nucleotide variant |
not specified [RCV004246471] |
Chr18:58536246 [GRCh38] Chr18:56203478 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6337G>C (p.Asp2113His) |
single nucleotide variant |
not specified [RCV004246476] |
Chr18:58481999 [GRCh38] Chr18:56149231 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3312T>A (p.Asp1104Glu) |
single nucleotide variant |
not specified [RCV004246422] |
Chr18:58536875 [GRCh38] Chr18:56204107 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6333C>A (p.Phe2111Leu) |
single nucleotide variant |
not specified [RCV004246483] |
Chr18:58482003 [GRCh38] Chr18:56149235 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6427C>T (p.Pro2143Ser) |
single nucleotide variant |
not specified [RCV004246486] |
Chr18:58481909 [GRCh38] Chr18:56149141 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5732G>C (p.Gly1911Ala) |
single nucleotide variant |
not specified [RCV004246487] |
Chr18:58517116 [GRCh38] Chr18:56184348 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5797G>A (p.Ala1933Thr) |
single nucleotide variant |
not specified [RCV004246488] |
Chr18:58517051 [GRCh38] Chr18:56184283 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3882A>G (p.Ala1294=) |
single nucleotide variant |
not specified [RCV004246491] |
Chr18:58536305 [GRCh38] Chr18:56203537 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3789C>G (p.Asp1263Glu) |
single nucleotide variant |
not specified [RCV004243491] |
Chr18:58536398 [GRCh38] Chr18:56203630 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6284C>T (p.Thr2095Met) |
single nucleotide variant |
not specified [RCV004243496] |
Chr18:58498061 [GRCh38] Chr18:56165293 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6280G>A (p.Ala2094Thr) |
single nucleotide variant |
not specified [RCV004243497] |
Chr18:58498065 [GRCh38] Chr18:56165297 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6323C>T (p.Ser2108Phe) |
single nucleotide variant |
not specified [RCV004243510] |
Chr18:58482013 [GRCh38] Chr18:56149245 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5524T>C (p.Ser1842Pro) |
single nucleotide variant |
not specified [RCV004243512] |
Chr18:58524040 [GRCh38] Chr18:56191272 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6065A>G (p.Asn2022Ser) |
single nucleotide variant |
not specified [RCV004243518] |
Chr18:58504113 [GRCh38] Chr18:56171345 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3079A>G (p.Ile1027Val) |
single nucleotide variant |
not specified [RCV004243521] |
Chr18:58537108 [GRCh38] Chr18:56204340 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4379C>A (p.Thr1460Asn) |
single nucleotide variant |
not specified [RCV004243493] |
Chr18:58535808 [GRCh38] Chr18:56203040 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5738G>A (p.Arg1913His) |
single nucleotide variant |
not specified [RCV004243488] |
Chr18:58517110 [GRCh38] Chr18:56184342 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2693T>C (p.Ile898Thr) |
single nucleotide variant |
not specified [RCV004246494] |
Chr18:58537494 [GRCh38] Chr18:56204726 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1774G>C (p.Gly592Arg) |
single nucleotide variant |
not specified [RCV004246501] |
Chr18:58579002 [GRCh38] Chr18:56246234 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4041T>G (p.Asp1347Glu) |
single nucleotide variant |
not specified [RCV004246502] |
Chr18:58536146 [GRCh38] Chr18:56203378 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4076C>T (p.Ala1359Val) |
single nucleotide variant |
not specified [RCV004243541] |
Chr18:58536111 [GRCh38] Chr18:56203343 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4629T>C (p.Ser1543=) |
single nucleotide variant |
not specified [RCV004243542] |
Chr18:58535558 [GRCh38] Chr18:56202790 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3930C>A (p.Ser1310Arg) |
single nucleotide variant |
not specified [RCV004243544] |
Chr18:58536257 [GRCh38] Chr18:56203489 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4456G>C (p.Glu1486Gln) |
single nucleotide variant |
not specified [RCV004243545] |
Chr18:58535731 [GRCh38] Chr18:56202963 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4330G>A (p.Glu1444Lys) |
single nucleotide variant |
not specified [RCV004243548] |
Chr18:58535857 [GRCh38] Chr18:56203089 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.92T>C (p.Leu31Pro) |
single nucleotide variant |
not specified [RCV004243549] |
Chr18:58611706 [GRCh38] Chr18:56278938 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4358A>G (p.Gln1453Arg) |
single nucleotide variant |
not specified [RCV004243522] |
Chr18:58535829 [GRCh38] Chr18:56203061 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1261G>A (p.Gly421Ser) |
single nucleotide variant |
not specified [RCV004243523] |
Chr18:58579515 [GRCh38] Chr18:56246747 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6272T>C (p.Val2091Ala) |
single nucleotide variant |
not specified [RCV004243553] |
Chr18:58498073 [GRCh38] Chr18:56165305 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3603G>A (p.Gly1201=) |
single nucleotide variant |
not specified [RCV004244940] |
Chr18:58536584 [GRCh38] Chr18:56203816 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3103G>C (p.Gly1035Arg) |
single nucleotide variant |
not specified [RCV004274362] |
Chr18:58537084 [GRCh38] Chr18:56204316 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1981G>A (p.Val661Ile) |
single nucleotide variant |
not specified [RCV004246373] |
Chr18:58538206 [GRCh38] Chr18:56205438 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.817A>G (p.Ser273Gly) |
single nucleotide variant |
not specified [RCV004246375] |
Chr18:58579959 [GRCh38] Chr18:56247191 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3234T>C (p.Ser1078=) |
single nucleotide variant |
not specified [RCV004246377] |
Chr18:58536953 [GRCh38] Chr18:56204185 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5133C>G (p.Val1711=) |
single nucleotide variant |
not specified [RCV004246381] |
Chr18:58535054 [GRCh38] Chr18:56202286 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2254T>C (p.Ser752Pro) |
single nucleotide variant |
not specified [RCV004246383] |
Chr18:58537933 [GRCh38] Chr18:56205165 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3388G>A (p.Gly1130Arg) |
single nucleotide variant |
not specified [RCV004246389] |
Chr18:58536799 [GRCh38] Chr18:56204031 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.758A>G (p.His253Arg) |
single nucleotide variant |
not specified [RCV004243552] |
Chr18:58580018 [GRCh38] Chr18:56247250 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4733G>A (p.Arg1578His) |
single nucleotide variant |
not specified [RCV004244910] |
Chr18:58535454 [GRCh38] Chr18:56202686 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3894C>G (p.His1298Gln) |
single nucleotide variant |
not specified [RCV004244949] |
Chr18:58536293 [GRCh38] Chr18:56203525 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2320G>C (p.Val774Leu) |
single nucleotide variant |
not specified [RCV004244951] |
Chr18:58537867 [GRCh38] Chr18:56205099 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4064A>G (p.Asp1355Gly) |
single nucleotide variant |
not specified [RCV004244953] |
Chr18:58536123 [GRCh38] Chr18:56203355 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5621C>G (p.Thr1874Arg) |
single nucleotide variant |
not specified [RCV004244955] |
Chr18:58523943 [GRCh38] Chr18:56191175 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3116G>A (p.Arg1039Lys) |
single nucleotide variant |
not specified [RCV004244958] |
Chr18:58537071 [GRCh38] Chr18:56204303 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.712A>G (p.Met238Val) |
single nucleotide variant |
not specified [RCV004244963] |
Chr18:58580064 [GRCh38] Chr18:56247296 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4727G>C (p.Arg1576Thr) |
single nucleotide variant |
not specified [RCV004243486] |
Chr18:58535460 [GRCh38] Chr18:56202692 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.749A>G (p.Asp250Gly) |
single nucleotide variant |
not specified [RCV004243494] |
Chr18:58580027 [GRCh38] Chr18:56247259 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3863T>C (p.Leu1288Ser) |
single nucleotide variant |
not specified [RCV004243499] |
Chr18:58536324 [GRCh38] Chr18:56203556 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5513A>G (p.Asn1838Ser) |
single nucleotide variant |
not specified [RCV004243500] |
Chr18:58524051 [GRCh38] Chr18:56191283 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3558C>T (p.Arg1186=) |
single nucleotide variant |
not specified [RCV004243507] |
Chr18:58536629 [GRCh38] Chr18:56203861 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.211G>C (p.Val71Leu) |
single nucleotide variant |
not specified [RCV004263553] |
Chr18:58607338 [GRCh38] Chr18:56274570 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.5235G>T (p.Lys1745Asn) |
single nucleotide variant |
not specified [RCV004243517] |
Chr18:58534952 [GRCh38] Chr18:56202184 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.868G>A (p.Val290Met) |
single nucleotide variant |
not specified [RCV004243528] |
Chr18:58579908 [GRCh38] Chr18:56247140 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3663G>C (p.Glu1221Asp) |
single nucleotide variant |
not specified [RCV004246401] |
Chr18:58536524 [GRCh38] Chr18:56203756 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5014C>A (p.Pro1672Thr) |
single nucleotide variant |
not specified [RCV004246402] |
Chr18:58535173 [GRCh38] Chr18:56202405 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2265G>A (p.Val755=) |
single nucleotide variant |
not specified [RCV004246427] |
Chr18:58537922 [GRCh38] Chr18:56205154 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4770T>C (p.Thr1590=) |
single nucleotide variant |
not specified [RCV004246447] |
Chr18:58535417 [GRCh38] Chr18:56202649 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3956C>G (p.Pro1319Arg) |
single nucleotide variant |
not specified [RCV004246449] |
Chr18:58536231 [GRCh38] Chr18:56203463 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5464A>C (p.Thr1822Pro) |
single nucleotide variant |
not specified [RCV004246450] |
Chr18:58529128 [GRCh38] Chr18:56196360 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2702C>T (p.Thr901Ile) |
single nucleotide variant |
not specified [RCV004246452] |
Chr18:58537485 [GRCh38] Chr18:56204717 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3471G>A (p.Leu1157=) |
single nucleotide variant |
not specified [RCV004246453] |
Chr18:58536716 [GRCh38] Chr18:56203948 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4033C>G (p.Pro1345Ala) |
single nucleotide variant |
not specified [RCV004246454] |
Chr18:58536154 [GRCh38] Chr18:56203386 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2019C>T (p.Phe673=) |
single nucleotide variant |
not specified [RCV004246455] |
Chr18:58538168 [GRCh38] Chr18:56205400 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3314A>T (p.Asn1105Ile) |
single nucleotide variant |
not specified [RCV004246472] |
Chr18:58536873 [GRCh38] Chr18:56204105 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2832G>A (p.Gln944=) |
single nucleotide variant |
not specified [RCV004246477] |
Chr18:58537355 [GRCh38] Chr18:56204587 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1181T>A (p.Met394Lys) |
single nucleotide variant |
not specified [RCV004246478] |
Chr18:58579595 [GRCh38] Chr18:56246827 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3109G>A (p.Glu1037Lys) |
single nucleotide variant |
not specified [RCV004246479] |
Chr18:58537078 [GRCh38] Chr18:56204310 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5274G>A (p.Met1758Ile) |
single nucleotide variant |
not specified [RCV004246480] |
Chr18:58534913 [GRCh38] Chr18:56202145 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4240T>C (p.Tyr1414His) |
single nucleotide variant |
not specified [RCV004246481] |
Chr18:58535947 [GRCh38] Chr18:56203179 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4607C>T (p.Ser1536Phe) |
single nucleotide variant |
not specified [RCV004283555] |
Chr18:58535580 [GRCh38] Chr18:56202812 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2554T>A (p.Leu852Ile) |
single nucleotide variant |
not specified [RCV004283564] |
Chr18:58537633 [GRCh38] Chr18:56204865 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4766G>C (p.Gly1589Ala) |
single nucleotide variant |
not specified [RCV004283569] |
Chr18:58535421 [GRCh38] Chr18:56202653 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.737A>G (p.Asp246Gly) |
single nucleotide variant |
not specified [RCV004283570] |
Chr18:58580039 [GRCh38] Chr18:56247271 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2302T>G (p.Phe768Val) |
single nucleotide variant |
not specified [RCV004283571] |
Chr18:58537885 [GRCh38] Chr18:56205117 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4423A>G (p.Met1475Val) |
single nucleotide variant |
not specified [RCV004283584] |
Chr18:58535764 [GRCh38] Chr18:56202996 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4247G>A (p.Arg1416Lys) |
single nucleotide variant |
not specified [RCV004283585] |
Chr18:58535940 [GRCh38] Chr18:56203172 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5555A>G (p.Asp1852Gly) |
single nucleotide variant |
not specified [RCV004283550] |
Chr18:58524009 [GRCh38] Chr18:56191241 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3189T>C (p.Gly1063=) |
single nucleotide variant |
not specified [RCV004283549] |
Chr18:58536998 [GRCh38] Chr18:56204230 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1193C>A (p.Ala398Asp) |
single nucleotide variant |
not specified [RCV004243506] |
Chr18:58579583 [GRCh38] Chr18:56246815 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4495G>A (p.Glu1499Lys) |
single nucleotide variant |
not specified [RCV004243515] |
Chr18:58535692 [GRCh38] Chr18:56202924 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2417G>A (p.Cys806Tyr) |
single nucleotide variant |
not specified [RCV004243519] |
Chr18:58537770 [GRCh38] Chr18:56205002 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3465A>G (p.Gln1155=) |
single nucleotide variant |
not specified [RCV004243538] |
Chr18:58536722 [GRCh38] Chr18:56203954 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4573G>A (p.Glu1525Lys) |
single nucleotide variant |
not specified [RCV004243550] |
Chr18:58535614 [GRCh38] Chr18:56202846 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1205G>A (p.Gly402Asp) |
single nucleotide variant |
not specified [RCV004283552] |
Chr18:58579571 [GRCh38] Chr18:56246803 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3528C>T (p.Pro1176=) |
single nucleotide variant |
not specified [RCV004283553] |
Chr18:58536659 [GRCh38] Chr18:56203891 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1023T>C (p.Asn341=) |
single nucleotide variant |
not specified [RCV004283554] |
Chr18:58579753 [GRCh38] Chr18:56246985 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1817C>A (p.Thr606Asn) |
single nucleotide variant |
not specified [RCV004283556] |
Chr18:58578959 [GRCh38] Chr18:56246191 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5577C>T (p.Cys1859=) |
single nucleotide variant |
not specified [RCV004283557] |
Chr18:58523987 [GRCh38] Chr18:56191219 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.214T>C (p.Leu72=) |
single nucleotide variant |
not specified [RCV004283558] |
Chr18:58607335 [GRCh38] Chr18:56274567 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.1409G>A (p.Arg470Lys) |
single nucleotide variant |
not specified [RCV004283559] |
Chr18:58579367 [GRCh38] Chr18:56246599 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5082A>G (p.Arg1694=) |
single nucleotide variant |
not specified [RCV004283560] |
Chr18:58535105 [GRCh38] Chr18:56202337 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2051C>T (p.Thr684Ile) |
single nucleotide variant |
not specified [RCV004283561] |
Chr18:58538136 [GRCh38] Chr18:56205368 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.310G>A (p.Val104Ile) |
single nucleotide variant |
not specified [RCV004283562] |
Chr18:58580466 [GRCh38] Chr18:56247698 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2407G>A (p.Ala803Thr) |
single nucleotide variant |
not specified [RCV004283563] |
Chr18:58537780 [GRCh38] Chr18:56205012 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.283A>T (p.Met95Leu) |
single nucleotide variant |
not specified [RCV004283565] |
Chr18:58580493 [GRCh38] Chr18:56247725 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.804A>G (p.Lys268=) |
single nucleotide variant |
not specified [RCV004283548] |
Chr18:58579972 [GRCh38] Chr18:56247204 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3342G>C (p.Val1114=) |
single nucleotide variant |
not specified [RCV004283547] |
Chr18:58536845 [GRCh38] Chr18:56204077 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1057C>A (p.His353Asn) |
single nucleotide variant |
not specified [RCV004283546] |
Chr18:58579719 [GRCh38] Chr18:56246951 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2769C>T (p.Ser923=) |
single nucleotide variant |
not specified [RCV004283545] |
Chr18:58537418 [GRCh38] Chr18:56204650 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4502G>C (p.Gly1501Ala) |
single nucleotide variant |
not specified [RCV004283544] |
Chr18:58535685 [GRCh38] Chr18:56202917 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1212C>T (p.His404=) |
single nucleotide variant |
not specified [RCV004283543] |
Chr18:58579564 [GRCh38] Chr18:56246796 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5780A>G (p.Glu1927Gly) |
single nucleotide variant |
not specified [RCV004243490] |
Chr18:58517068 [GRCh38] Chr18:56184300 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6236C>T (p.Thr2079Met) |
single nucleotide variant |
not provided [RCV004696322]|not specified [RCV004243492] |
Chr18:58503942 [GRCh38] Chr18:56171174 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4718T>C (p.Val1573Ala) |
single nucleotide variant |
not specified [RCV004244943] |
Chr18:58535469 [GRCh38] Chr18:56202701 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4301G>A (p.Gly1434Asp) |
single nucleotide variant |
not specified [RCV004244944] |
Chr18:58535886 [GRCh38] Chr18:56203118 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3096T>C (p.His1032=) |
single nucleotide variant |
not specified [RCV004244945] |
Chr18:58537091 [GRCh38] Chr18:56204323 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5925C>T (p.Tyr1975=) |
single nucleotide variant |
not specified [RCV004244946] |
Chr18:58516923 [GRCh38] Chr18:56184155 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.957C>T (p.Thr319=) |
single nucleotide variant |
not specified [RCV004244947] |
Chr18:58579819 [GRCh38] Chr18:56247051 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2872G>C (p.Glu958Gln) |
single nucleotide variant |
not specified [RCV004243498] |
Chr18:58537315 [GRCh38] Chr18:56204547 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1156C>T (p.Arg386Trp) |
single nucleotide variant |
not specified [RCV004243511] |
Chr18:58579620 [GRCh38] Chr18:56246852 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5759C>T (p.Thr1920Met) |
single nucleotide variant |
not specified [RCV004243513] |
Chr18:58517089 [GRCh38] Chr18:56184321 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1150G>A (p.Gly384Arg) |
single nucleotide variant |
not specified [RCV004243516] |
Chr18:58579626 [GRCh38] Chr18:56246858 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1901G>A (p.Gly634Asp) |
single nucleotide variant |
not specified [RCV004243524] |
Chr18:58578875 [GRCh38] Chr18:56246107 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3333C>A (p.Ser1111Arg) |
single nucleotide variant |
not specified [RCV004243525] |
Chr18:58536854 [GRCh38] Chr18:56204086 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2939C>T (p.Ser980Leu) |
single nucleotide variant |
not specified [RCV004243526] |
Chr18:58537248 [GRCh38] Chr18:56204480 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1166G>T (p.Gly389Val) |
single nucleotide variant |
not specified [RCV004244952] |
Chr18:58579610 [GRCh38] Chr18:56246842 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1077C>T (p.Ser359=) |
single nucleotide variant |
not specified [RCV004244959] |
Chr18:58579699 [GRCh38] Chr18:56246931 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.372T>C (p.Gly124=) |
single nucleotide variant |
not specified [RCV004244960] |
Chr18:58580404 [GRCh38] Chr18:56247636 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2433C>T (p.Asp811=) |
single nucleotide variant |
not specified [RCV004244964] |
Chr18:58537754 [GRCh38] Chr18:56204986 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5419A>G (p.Ser1807Gly) |
single nucleotide variant |
not specified [RCV004243504] |
Chr18:58529173 [GRCh38] Chr18:56196405 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6267T>C (p.Thr2089=) |
single nucleotide variant |
not specified [RCV004243503] |
Chr18:58498078 [GRCh38] Chr18:56165310 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1058A>G (p.His353Arg) |
single nucleotide variant |
not specified [RCV004243533] |
Chr18:58579718 [GRCh38] Chr18:56246950 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3949G>A (p.Glu1317Lys) |
single nucleotide variant |
not specified [RCV004243536] |
Chr18:58536238 [GRCh38] Chr18:56203470 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6242T>C (p.Met2081Thr) |
single nucleotide variant |
not specified [RCV004243537] |
Chr18:58503936 [GRCh38] Chr18:56171168 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3755G>A (p.Arg1252Gln) |
single nucleotide variant |
not specified [RCV004243539] |
Chr18:58536432 [GRCh38] Chr18:56203664 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.272A>G (p.Asn91Ser) |
single nucleotide variant |
not specified [RCV004243551] |
Chr18:58580504 [GRCh38] Chr18:56247736 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4197A>G (p.Leu1399=) |
single nucleotide variant |
not specified [RCV004246380] |
Chr18:58535990 [GRCh38] Chr18:56203222 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1727C>A (p.Thr576Asn) |
single nucleotide variant |
not specified [RCV004246382] |
Chr18:58579049 [GRCh38] Chr18:56246281 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2264T>C (p.Val755Ala) |
single nucleotide variant |
not specified [RCV004246384] |
Chr18:58537923 [GRCh38] Chr18:56205155 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2727A>T (p.Glu909Asp) |
single nucleotide variant |
not specified [RCV004246386] |
Chr18:58537460 [GRCh38] Chr18:56204692 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1538A>T (p.Glu513Val) |
single nucleotide variant |
not specified [RCV004246387] |
Chr18:58579238 [GRCh38] Chr18:56246470 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5816T>G (p.Met1939Arg) |
single nucleotide variant |
not specified [RCV004246388] |
Chr18:58517032 [GRCh38] Chr18:56184264 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3993G>A (p.Arg1331=) |
single nucleotide variant |
not specified [RCV004246390] |
Chr18:58536194 [GRCh38] Chr18:56203426 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4314C>A (p.Asp1438Glu) |
single nucleotide variant |
not specified [RCV004246391] |
Chr18:58535873 [GRCh38] Chr18:56203105 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.461C>A (p.Ser154Tyr) |
single nucleotide variant |
not specified [RCV004246392] |
Chr18:58580315 [GRCh38] Chr18:56247547 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1138G>A (p.Gly380Arg) |
single nucleotide variant |
not specified [RCV004246408] |
Chr18:58579638 [GRCh38] Chr18:56246870 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.203A>T (p.Tyr68Phe) |
single nucleotide variant |
not specified [RCV004246409] |
Chr18:58607346 [GRCh38] Chr18:56274578 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.202T>A (p.Tyr68Asn) |
single nucleotide variant |
not specified [RCV004246410] |
Chr18:58607347 [GRCh38] Chr18:56274579 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2961G>A (p.Glu987=) |
single nucleotide variant |
not specified [RCV004246412] |
Chr18:58537226 [GRCh38] Chr18:56204458 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1663G>C (p.Glu555Gln) |
single nucleotide variant |
not specified [RCV004246416] |
Chr18:58579113 [GRCh38] Chr18:56246345 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1671A>T (p.Thr557=) |
single nucleotide variant |
not specified [RCV004246419] |
Chr18:58579105 [GRCh38] Chr18:56246337 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.488C>T (p.Ser163Phe) |
single nucleotide variant |
not specified [RCV004246420] |
Chr18:58580288 [GRCh38] Chr18:56247520 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.66G>T (p.Lys22Asn) |
single nucleotide variant |
not specified [RCV004246421] |
Chr18:58611732 [GRCh38] Chr18:56278964 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2617G>C (p.Val873Leu) |
single nucleotide variant |
not specified [RCV004246428] |
Chr18:58537570 [GRCh38] Chr18:56204802 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5601G>T (p.Val1867=) |
single nucleotide variant |
not specified [RCV004246430] |
Chr18:58523963 [GRCh38] Chr18:56191195 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1286T>C (p.Met429Thr) |
single nucleotide variant |
not specified [RCV004246431] |
Chr18:58579490 [GRCh38] Chr18:56246722 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4115T>G (p.Val1372Gly) |
single nucleotide variant |
not specified [RCV004246432] |
Chr18:58536072 [GRCh38] Chr18:56203304 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3824T>C (p.Val1275Ala) |
single nucleotide variant |
not specified [RCV004246434] |
Chr18:58536363 [GRCh38] Chr18:56203595 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1343G>A (p.Arg448Lys) |
single nucleotide variant |
not specified [RCV004246435] |
Chr18:58579433 [GRCh38] Chr18:56246665 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3814G>C (p.Val1272Leu) |
single nucleotide variant |
not specified [RCV004246436] |
Chr18:58536373 [GRCh38] Chr18:56203605 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3411C>A (p.Val1137=) |
single nucleotide variant |
not specified [RCV004246437] |
Chr18:58536776 [GRCh38] Chr18:56204008 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1677A>G (p.Glu559=) |
single nucleotide variant |
not specified [RCV004246438] |
Chr18:58579099 [GRCh38] Chr18:56246331 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3774G>C (p.Glu1258Asp) |
single nucleotide variant |
not specified [RCV004246441] |
Chr18:58536413 [GRCh38] Chr18:56203645 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.980T>G (p.Leu327Arg) |
single nucleotide variant |
not specified [RCV004246442] |
Chr18:58579796 [GRCh38] Chr18:56247028 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4872C>T (p.Ser1624=) |
single nucleotide variant |
not specified [RCV004246443] |
Chr18:58535315 [GRCh38] Chr18:56202547 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.766G>A (p.Gly256Ser) |
single nucleotide variant |
not specified [RCV004246444] |
Chr18:58580010 [GRCh38] Chr18:56247242 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3990C>T (p.Ser1330=) |
single nucleotide variant |
not specified [RCV004246445] |
Chr18:58536197 [GRCh38] Chr18:56203429 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.490T>A (p.Ser164Thr) |
single nucleotide variant |
not specified [RCV004246456] |
Chr18:58580286 [GRCh38] Chr18:56247518 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4293A>T (p.Arg1431Ser) |
single nucleotide variant |
not specified [RCV004246457] |
Chr18:58535894 [GRCh38] Chr18:56203126 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.415C>G (p.Gln139Glu) |
single nucleotide variant |
not specified [RCV004246458] |
Chr18:58580361 [GRCh38] Chr18:56247593 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2412G>A (p.Met804Ile) |
single nucleotide variant |
not specified [RCV004246459] |
Chr18:58537775 [GRCh38] Chr18:56205007 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1371T>A (p.Ala457=) |
single nucleotide variant |
not specified [RCV004246496] |
Chr18:58579405 [GRCh38] Chr18:56246637 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.503C>G (p.Ser168Cys) |
single nucleotide variant |
not specified [RCV004246497] |
Chr18:58580273 [GRCh38] Chr18:56247505 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4317A>G (p.Gly1439=) |
single nucleotide variant |
not specified [RCV004246498] |
Chr18:58535870 [GRCh38] Chr18:56203102 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3334C>A (p.Gln1112Lys) |
single nucleotide variant |
not specified [RCV004246499] |
Chr18:58536853 [GRCh38] Chr18:56204085 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1935G>C (p.Gln645His) |
single nucleotide variant |
not specified [RCV004246397] |
Chr18:58578841 [GRCh38] Chr18:56246073 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2335C>T (p.Pro779Ser) |
single nucleotide variant |
not specified [RCV004246398] |
Chr18:58537852 [GRCh38] Chr18:56205084 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.762T>G (p.Asp254Glu) |
single nucleotide variant |
not specified [RCV004246399] |
Chr18:58580014 [GRCh38] Chr18:56247246 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2735C>G (p.Ala912Gly) |
single nucleotide variant |
not specified [RCV004246400] |
Chr18:58537452 [GRCh38] Chr18:56204684 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6484C>T (p.Pro2162Ser) |
single nucleotide variant |
not specified [RCV004246404] |
Chr18:58481852 [GRCh38] Chr18:56149084 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2677A>T (p.Thr893Ser) |
single nucleotide variant |
not specified [RCV004246405] |
Chr18:58537510 [GRCh38] Chr18:56204742 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5966G>T (p.Arg1989Met) |
single nucleotide variant |
not specified [RCV004246406] |
Chr18:58515056 [GRCh38] Chr18:56182288 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2821G>C (p.Asp941His) |
single nucleotide variant |
not specified [RCV004246411] |
Chr18:58537366 [GRCh38] Chr18:56204598 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6040A>C (p.Ile2014Leu) |
single nucleotide variant |
not specified [RCV004246417] |
Chr18:58504138 [GRCh38] Chr18:56171370 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.349C>T (p.Leu117=) |
single nucleotide variant |
not specified [RCV004246423] |
Chr18:58580427 [GRCh38] Chr18:56247659 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4820G>C (p.Arg1607Thr) |
single nucleotide variant |
not specified [RCV004246424] |
Chr18:58535367 [GRCh38] Chr18:56202599 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4611C>A (p.Pro1537=) |
single nucleotide variant |
not specified [RCV004246425] |
Chr18:58535576 [GRCh38] Chr18:56202808 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3384A>C (p.Glu1128Asp) |
single nucleotide variant |
not specified [RCV004246482] |
Chr18:58536803 [GRCh38] Chr18:56204035 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3899C>T (p.Pro1300Leu) |
single nucleotide variant |
not specified [RCV004246485] |
Chr18:58536288 [GRCh38] Chr18:56203520 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.687A>G (p.Arg229=) |
single nucleotide variant |
not specified [RCV004246489] |
Chr18:58580089 [GRCh38] Chr18:56247321 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1833A>C (p.Glu611Asp) |
single nucleotide variant |
not specified [RCV004246490] |
Chr18:58578943 [GRCh38] Chr18:56246175 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4491C>G (p.Pro1497=) |
single nucleotide variant |
not specified [RCV004246492] |
Chr18:58535696 [GRCh38] Chr18:56202928 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5083G>C (p.Ala1695Pro) |
single nucleotide variant |
not specified [RCV004246493] |
Chr18:58535104 [GRCh38] Chr18:56202336 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3619G>A (p.Ala1207Thr) |
single nucleotide variant |
not specified [RCV004246500] |
Chr18:58536568 [GRCh38] Chr18:56203800 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1061T>A (p.Val354Asp) |
single nucleotide variant |
not specified [RCV004243501] |
Chr18:58579715 [GRCh38] Chr18:56246947 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3038T>C (p.Ile1013Thr) |
single nucleotide variant |
not specified [RCV004243489] |
Chr18:58537149 [GRCh38] Chr18:56204381 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2778T>C (p.His926=) |
single nucleotide variant |
not specified [RCV004243509] |
Chr18:58537409 [GRCh38] Chr18:56204641 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4414G>C (p.Glu1472Gln) |
single nucleotide variant |
not specified [RCV004246439] |
Chr18:58535773 [GRCh38] Chr18:56203005 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3679C>A (p.Pro1227Thr) |
single nucleotide variant |
not specified [RCV004246446] |
Chr18:58536508 [GRCh38] Chr18:56203740 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4661G>A (p.Gly1554Glu) |
single nucleotide variant |
not specified [RCV004246448] |
Chr18:58535526 [GRCh38] Chr18:56202758 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.748G>T (p.Asp250Tyr) |
single nucleotide variant |
not specified [RCV004246503] |
Chr18:58580028 [GRCh38] Chr18:56247260 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.826C>A (p.Leu276Ile) |
single nucleotide variant |
not specified [RCV004280330] |
Chr18:58579950 [GRCh38] Chr18:56247182 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4924C>T (p.Pro1642Ser) |
single nucleotide variant |
not specified [RCV004243487] |
Chr18:58535263 [GRCh38] Chr18:56202495 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4162T>A (p.Phe1388Ile) |
single nucleotide variant |
not specified [RCV004243508] |
Chr18:58536025 [GRCh38] Chr18:56203257 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4685G>T (p.Gly1562Val) |
single nucleotide variant |
not specified [RCV004243546] |
Chr18:58535502 [GRCh38] Chr18:56202734 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4363C>T (p.Pro1455Ser) |
single nucleotide variant |
not specified [RCV004244950] |
Chr18:58535824 [GRCh38] Chr18:56203056 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3260T>C (p.Leu1087Pro) |
single nucleotide variant |
not specified [RCV004262833] |
Chr18:58536927 [GRCh38] Chr18:56204159 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2976A>T (p.Leu992Phe) |
single nucleotide variant |
not specified [RCV004262824] |
Chr18:58537211 [GRCh38] Chr18:56204443 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.728C>T (p.Thr243Met) |
single nucleotide variant |
not specified [RCV004278808] |
Chr18:58580048 [GRCh38] Chr18:56247280 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.674A>G (p.Glu225Gly) |
single nucleotide variant |
not specified [RCV004283566] |
Chr18:58580102 [GRCh38] Chr18:56247334 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6185G>C (p.Cys2062Ser) |
single nucleotide variant |
not specified [RCV004283551] |
Chr18:58503993 [GRCh38] Chr18:56171225 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2963A>G (p.Lys988Arg) |
single nucleotide variant |
not specified [RCV004283568] |
Chr18:58537224 [GRCh38] Chr18:56204456 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.526T>G (p.Ser176Ala) |
single nucleotide variant |
not specified [RCV004283572] |
Chr18:58580250 [GRCh38] Chr18:56247482 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6159A>C (p.Arg2053Ser) |
single nucleotide variant |
not specified [RCV004283573] |
Chr18:58504019 [GRCh38] Chr18:56171251 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.281G>A (p.Gly94Glu) |
single nucleotide variant |
not specified [RCV004283574] |
Chr18:58580495 [GRCh38] Chr18:56247727 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5561G>C (p.Gly1854Ala) |
single nucleotide variant |
not specified [RCV004283575] |
Chr18:58524003 [GRCh38] Chr18:56191235 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.902G>A (p.Ser301Asn) |
single nucleotide variant |
not specified [RCV004283576] |
Chr18:58579874 [GRCh38] Chr18:56247106 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6040A>G (p.Ile2014Val) |
single nucleotide variant |
not specified [RCV004283577] |
Chr18:58504138 [GRCh38] Chr18:56171370 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2590T>C (p.Phe864Leu) |
single nucleotide variant |
not specified [RCV004283578] |
Chr18:58537597 [GRCh38] Chr18:56204829 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4120C>A (p.Gln1374Lys) |
single nucleotide variant |
not specified [RCV004283579] |
Chr18:58536067 [GRCh38] Chr18:56203299 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4994C>T (p.Ala1665Val) |
single nucleotide variant |
not specified [RCV004283580] |
Chr18:58535193 [GRCh38] Chr18:56202425 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1826A>G (p.Glu609Gly) |
single nucleotide variant |
not specified [RCV004283581] |
Chr18:58578950 [GRCh38] Chr18:56246182 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.657T>G (p.Asn219Lys) |
single nucleotide variant |
not specified [RCV004283582] |
Chr18:58580119 [GRCh38] Chr18:56247351 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4021T>G (p.Ser1341Ala) |
single nucleotide variant |
not specified [RCV004283583] |
Chr18:58536166 [GRCh38] Chr18:56203398 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.682G>C (p.Asp228His) |
single nucleotide variant |
not specified [RCV004246369] |
Chr18:58580094 [GRCh38] Chr18:56247326 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1587G>A (p.Arg529=) |
single nucleotide variant |
not specified [RCV004246370] |
Chr18:58579189 [GRCh38] Chr18:56246421 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5120G>A (p.Gly1707Glu) |
single nucleotide variant |
not specified [RCV004246371] |
Chr18:58535067 [GRCh38] Chr18:56202299 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6355C>T (p.His2119Tyr) |
single nucleotide variant |
not specified [RCV004246372] |
Chr18:58481981 [GRCh38] Chr18:56149213 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4956C>G (p.Thr1652=) |
single nucleotide variant |
not specified [RCV004246376] |
Chr18:58535231 [GRCh38] Chr18:56202463 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2405G>A (p.Cys802Tyr) |
single nucleotide variant |
not specified [RCV004246378] |
Chr18:58537782 [GRCh38] Chr18:56205014 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2393G>C (p.Arg798Thr) |
single nucleotide variant |
not specified [RCV004246379] |
Chr18:58537794 [GRCh38] Chr18:56205026 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1542G>T (p.Thr514=) |
single nucleotide variant |
not specified [RCV004246393] |
Chr18:58579234 [GRCh38] Chr18:56246466 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2954C>G (p.Pro985Arg) |
single nucleotide variant |
not specified [RCV004246395] |
Chr18:58537233 [GRCh38] Chr18:56204465 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2174G>C (p.Arg725Thr) |
single nucleotide variant |
not specified [RCV004246403] |
Chr18:58538013 [GRCh38] Chr18:56205245 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2571C>G (p.Asp857Glu) |
single nucleotide variant |
not specified [RCV004246413] |
Chr18:58537616 [GRCh38] Chr18:56204848 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6301A>G (p.Lys2101Glu) |
single nucleotide variant |
not specified [RCV004246414] |
Chr18:58482035 [GRCh38] Chr18:56149267 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1907A>G (p.Gln636Arg) |
single nucleotide variant |
not specified [RCV004246415] |
Chr18:58578869 [GRCh38] Chr18:56246101 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.909C>A (p.Asp303Glu) |
single nucleotide variant |
not specified [RCV004246426] |
Chr18:58579867 [GRCh38] Chr18:56247099 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.284T>C (p.Met95Thr) |
single nucleotide variant |
not specified [RCV004246433] |
Chr18:58580492 [GRCh38] Chr18:56247724 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.641G>C (p.Gly214Ala) |
single nucleotide variant |
not specified [RCV004246460] |
Chr18:58580135 [GRCh38] Chr18:56247367 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3815T>A (p.Val1272Asp) |
single nucleotide variant |
not specified [RCV004246461] |
Chr18:58536372 [GRCh38] Chr18:56203604 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1075A>G (p.Ser359Gly) |
single nucleotide variant |
not specified [RCV004246463] |
Chr18:58579701 [GRCh38] Chr18:56246933 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2934T>C (p.Tyr978=) |
single nucleotide variant |
not specified [RCV004283542] |
Chr18:58537253 [GRCh38] Chr18:56204485 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1115G>A (p.Gly372Asp) |
single nucleotide variant |
not specified [RCV004283541] |
Chr18:58579661 [GRCh38] Chr18:56246893 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1560G>A (p.Val520=) |
single nucleotide variant |
not specified [RCV004283540] |
Chr18:58579216 [GRCh38] Chr18:56246448 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6024A>G (p.Val2008=) |
single nucleotide variant |
not specified [RCV004246465] |
Chr18:58514998 [GRCh38] Chr18:56182230 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2011C>A (p.Pro671Thr) |
single nucleotide variant |
not specified [RCV004246466] |
Chr18:58538176 [GRCh38] Chr18:56205408 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3164T>A (p.Val1055Glu) |
single nucleotide variant |
not specified [RCV004246468] |
Chr18:58537023 [GRCh38] Chr18:56204255 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.447A>G (p.Glu149=) |
single nucleotide variant |
not specified [RCV004246469] |
Chr18:58580329 [GRCh38] Chr18:56247561 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3203C>T (p.Ser1068Phe) |
single nucleotide variant |
not specified [RCV004246470] |
Chr18:58536984 [GRCh38] Chr18:56204216 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2117A>T (p.Gln706Leu) |
single nucleotide variant |
not specified [RCV004246474] |
Chr18:58538070 [GRCh38] Chr18:56205302 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1943A>G (p.Asp648Gly) |
single nucleotide variant |
not specified [RCV004246475] |
Chr18:58578833 [GRCh38] Chr18:56246065 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2794C>T (p.Pro932Ser) |
single nucleotide variant |
not specified [RCV004243562] |
Chr18:58537393 [GRCh38] Chr18:56204625 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.95G>A (p.Arg32His) |
single nucleotide variant |
not specified [RCV004244920] |
Chr18:58611703 [GRCh38] Chr18:56278935 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2991G>T (p.Glu997Asp) |
single nucleotide variant |
not specified [RCV004244962] |
Chr18:58537196 [GRCh38] Chr18:56204428 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.961G>A (p.Glu321Lys) |
single nucleotide variant |
not specified [RCV004244965] |
Chr18:58579815 [GRCh38] Chr18:56247047 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3516G>A (p.Thr1172=) |
single nucleotide variant |
not specified [RCV004244967] |
Chr18:58536671 [GRCh38] Chr18:56203903 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5744G>A (p.Arg1915His) |
single nucleotide variant |
not specified [RCV004244968] |
Chr18:58517104 [GRCh38] Chr18:56184336 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6467C>T (p.Thr2156Ile) |
single nucleotide variant |
not specified [RCV004243495] |
Chr18:58481869 [GRCh38] Chr18:56149101 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4225A>G (p.Ile1409Val) |
single nucleotide variant |
not specified [RCV004243514] |
Chr18:58535962 [GRCh38] Chr18:56203194 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.680A>G (p.Gln227Arg) |
single nucleotide variant |
not specified [RCV004243505] |
Chr18:58580096 [GRCh38] Chr18:56247328 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5366T>C (p.Leu1789Pro) |
single nucleotide variant |
not specified [RCV004243520] |
Chr18:58529226 [GRCh38] Chr18:56196458 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.694C>T (p.His232Tyr) |
single nucleotide variant |
not specified [RCV004243502] |
Chr18:58580082 [GRCh38] Chr18:56247314 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3394G>A (p.Glu1132Lys) |
single nucleotide variant |
not specified [RCV004243534] |
Chr18:58536793 [GRCh38] Chr18:56204025 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.863G>A (p.Ser288Asn) |
single nucleotide variant |
not specified [RCV004243535] |
Chr18:58579913 [GRCh38] Chr18:56247145 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6139G>A (p.Glu2047Lys) |
single nucleotide variant |
not specified [RCV004252611] |
Chr18:58504039 [GRCh38] Chr18:56171271 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.518C>T (p.Ser173Phe) |
single nucleotide variant |
not specified [RCV004243540] |
Chr18:58580258 [GRCh38] Chr18:56247490 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.136T>C (p.Tyr46His) |
single nucleotide variant |
not specified [RCV004243543] |
Chr18:58607413 [GRCh38] Chr18:56274645 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4732C>T (p.Arg1578Cys) |
single nucleotide variant |
not specified [RCV004243547] |
Chr18:58535455 [GRCh38] Chr18:56202687 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.503C>T (p.Ser168Phe) |
single nucleotide variant |
not specified [RCV004326279] |
Chr18:58580273 [GRCh38] Chr18:56247505 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3117G>A (p.Arg1039=) |
single nucleotide variant |
not specified [RCV004326281] |
Chr18:58537070 [GRCh38] Chr18:56204302 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1422A>G (p.Gln474=) |
single nucleotide variant |
not specified [RCV004326282] |
Chr18:58579354 [GRCh38] Chr18:56246586 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1776T>C (p.Gly592=) |
single nucleotide variant |
not specified [RCV004326283] |
Chr18:58579000 [GRCh38] Chr18:56246232 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6139G>C (p.Glu2047Gln) |
single nucleotide variant |
not specified [RCV004326284] |
Chr18:58504039 [GRCh38] Chr18:56171271 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.783G>A (p.Gln261=) |
single nucleotide variant |
not specified [RCV004326285] |
Chr18:58579993 [GRCh38] Chr18:56247225 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1625T>A (p.Met542Lys) |
single nucleotide variant |
not specified [RCV004326286] |
Chr18:58579151 [GRCh38] Chr18:56246383 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4233G>A (p.Val1411=) |
single nucleotide variant |
not specified [RCV004326287] |
Chr18:58535954 [GRCh38] Chr18:56203186 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2029G>A (p.Ala677Thr) |
single nucleotide variant |
not specified [RCV004326288] |
Chr18:58538158 [GRCh38] Chr18:56205390 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1801G>A (p.Glu601Lys) |
single nucleotide variant |
not specified [RCV004326289] |
Chr18:58578975 [GRCh38] Chr18:56246207 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3266T>C (p.Leu1089Pro) |
single nucleotide variant |
not specified [RCV004326290] |
Chr18:58536921 [GRCh38] Chr18:56204153 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3468T>C (p.Ser1156=) |
single nucleotide variant |
not specified [RCV004326291] |
Chr18:58536719 [GRCh38] Chr18:56203951 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4936T>C (p.Ser1646Pro) |
single nucleotide variant |
not specified [RCV004326292] |
Chr18:58535251 [GRCh38] Chr18:56202483 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2290G>A (p.Ala764Thr) |
single nucleotide variant |
not specified [RCV004326293] |
Chr18:58537897 [GRCh38] Chr18:56205129 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1979C>T (p.Thr660Ile) |
single nucleotide variant |
not specified [RCV004326294] |
Chr18:58538208 [GRCh38] Chr18:56205440 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5729T>C (p.Phe1910Ser) |
single nucleotide variant |
not specified [RCV004326295] |
Chr18:58517119 [GRCh38] Chr18:56184351 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5892C>T (p.Thr1964=) |
single nucleotide variant |
not specified [RCV004326296] |
Chr18:58516956 [GRCh38] Chr18:56184188 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1519G>A (p.Gly507Arg) |
single nucleotide variant |
not specified [RCV004326297] |
Chr18:58579257 [GRCh38] Chr18:56246489 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3048A>C (p.Glu1016Asp) |
single nucleotide variant |
not specified [RCV004326298] |
Chr18:58537139 [GRCh38] Chr18:56204371 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2119C>T (p.His707Tyr) |
single nucleotide variant |
not specified [RCV004326299] |
Chr18:58538068 [GRCh38] Chr18:56205300 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4766G>T (p.Gly1589Val) |
single nucleotide variant |
not specified [RCV004328088] |
Chr18:58535421 [GRCh38] Chr18:56202653 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6278T>C (p.Ile2093Thr) |
single nucleotide variant |
not specified [RCV004328089] |
Chr18:58498067 [GRCh38] Chr18:56165299 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2575A>G (p.Thr859Ala) |
single nucleotide variant |
not specified [RCV004328090] |
Chr18:58537612 [GRCh38] Chr18:56204844 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6038C>A (p.Pro2013His) |
single nucleotide variant |
not specified [RCV004328091] |
Chr18:58504140 [GRCh38] Chr18:56171372 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.845A>C (p.His282Pro) |
single nucleotide variant |
not specified [RCV004328092] |
Chr18:58579931 [GRCh38] Chr18:56247163 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6334A>C (p.Ile2112Leu) |
single nucleotide variant |
not specified [RCV004328093] |
Chr18:58482002 [GRCh38] Chr18:56149234 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1996T>C (p.Ser666Pro) |
single nucleotide variant |
not specified [RCV004328094] |
Chr18:58538191 [GRCh38] Chr18:56205423 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5233A>G (p.Lys1745Glu) |
single nucleotide variant |
not specified [RCV004328095] |
Chr18:58534954 [GRCh38] Chr18:56202186 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1504G>A (p.Glu502Lys) |
single nucleotide variant |
not specified [RCV004328096] |
Chr18:58579272 [GRCh38] Chr18:56246504 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3934G>C (p.Glu1312Gln) |
single nucleotide variant |
not specified [RCV004328097] |
Chr18:58536253 [GRCh38] Chr18:56203485 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5062G>A (p.Glu1688Lys) |
single nucleotide variant |
not specified [RCV004332483] |
Chr18:58535125 [GRCh38] Chr18:56202357 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.321A>C (p.Ser107=) |
single nucleotide variant |
not specified [RCV004332485] |
Chr18:58580455 [GRCh38] Chr18:56247687 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3339T>C (p.Thr1113=) |
single nucleotide variant |
not specified [RCV004332486] |
Chr18:58536848 [GRCh38] Chr18:56204080 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2965C>G (p.Pro989Ala) |
single nucleotide variant |
not specified [RCV004332487] |
Chr18:58537222 [GRCh38] Chr18:56204454 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3264G>C (p.Gln1088His) |
single nucleotide variant |
not specified [RCV004332488] |
Chr18:58536923 [GRCh38] Chr18:56204155 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.773G>T (p.Arg258Leu) |
single nucleotide variant |
not specified [RCV004332489] |
Chr18:58580003 [GRCh38] Chr18:56247235 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4144A>G (p.Lys1382Glu) |
single nucleotide variant |
not specified [RCV004332490] |
Chr18:58536043 [GRCh38] Chr18:56203275 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6148T>C (p.Phe2050Leu) |
single nucleotide variant |
not specified [RCV004332491] |
Chr18:58504030 [GRCh38] Chr18:56171262 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1925A>T (p.Glu642Val) |
single nucleotide variant |
not specified [RCV004332492] |
Chr18:58578851 [GRCh38] Chr18:56246083 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.780T>C (p.Ser260=) |
single nucleotide variant |
not specified [RCV004332493] |
Chr18:58579996 [GRCh38] Chr18:56247228 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4566G>A (p.Gly1522=) |
single nucleotide variant |
not specified [RCV004332494] |
Chr18:58535621 [GRCh38] Chr18:56202853 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4072T>C (p.Ser1358Pro) |
single nucleotide variant |
not specified [RCV004332496] |
Chr18:58536115 [GRCh38] Chr18:56203347 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5140A>G (p.Lys1714Glu) |
single nucleotide variant |
not specified [RCV004332497] |
Chr18:58535047 [GRCh38] Chr18:56202279 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4940G>T (p.Ser1647Ile) |
single nucleotide variant |
not specified [RCV004332498] |
Chr18:58535247 [GRCh38] Chr18:56202479 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3160C>G (p.Gln1054Glu) |
single nucleotide variant |
not specified [RCV004332499] |
Chr18:58537027 [GRCh38] Chr18:56204259 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1779G>C (p.Arg593=) |
single nucleotide variant |
not specified [RCV004332500] |
Chr18:58578997 [GRCh38] Chr18:56246229 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2209C>A (p.Leu737Ile) |
single nucleotide variant |
not specified [RCV004332501] |
Chr18:58537978 [GRCh38] Chr18:56205210 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2400A>G (p.Ala800=) |
single nucleotide variant |
not specified [RCV004332502] |
Chr18:58537787 [GRCh38] Chr18:56205019 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3037A>C (p.Ile1013Leu) |
single nucleotide variant |
not specified [RCV004332503] |
Chr18:58537150 [GRCh38] Chr18:56204382 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1282G>C (p.Gly428Arg) |
single nucleotide variant |
not specified [RCV004332504] |
Chr18:58579494 [GRCh38] Chr18:56246726 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2266T>C (p.Phe756Leu) |
single nucleotide variant |
not specified [RCV004333295] |
Chr18:58537921 [GRCh38] Chr18:56205153 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1690C>T (p.Leu564Phe) |
single nucleotide variant |
not specified [RCV004333297] |
Chr18:58579086 [GRCh38] Chr18:56246318 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2380G>A (p.Glu794Lys) |
single nucleotide variant |
not specified [RCV004333298] |
Chr18:58537807 [GRCh38] Chr18:56205039 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1527C>A (p.Ser509Arg) |
single nucleotide variant |
not specified [RCV004333299] |
Chr18:58579249 [GRCh38] Chr18:56246481 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4542A>G (p.Gln1514=) |
single nucleotide variant |
not specified [RCV004333300] |
Chr18:58535645 [GRCh38] Chr18:56202877 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3356T>A (p.Phe1119Tyr) |
single nucleotide variant |
not specified [RCV004333301] |
Chr18:58536831 [GRCh38] Chr18:56204063 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.200A>G (p.Gln67Arg) |
single nucleotide variant |
not specified [RCV004333302] |
Chr18:58607349 [GRCh38] Chr18:56274581 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.468C>G (p.Gly156=) |
single nucleotide variant |
not specified [RCV004333303] |
Chr18:58580308 [GRCh38] Chr18:56247540 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.777T>C (p.Ser259=) |
single nucleotide variant |
not specified [RCV004333304] |
Chr18:58579999 [GRCh38] Chr18:56247231 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2736C>T (p.Ala912=) |
single nucleotide variant |
not specified [RCV004333305] |
Chr18:58537451 [GRCh38] Chr18:56204683 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4678T>A (p.Ser1560Thr) |
single nucleotide variant |
not specified [RCV004333306] |
Chr18:58535509 [GRCh38] Chr18:56202741 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1746G>A (p.Glu582=) |
single nucleotide variant |
not specified [RCV004333307] |
Chr18:58579030 [GRCh38] Chr18:56246262 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2920A>G (p.Thr974Ala) |
single nucleotide variant |
not specified [RCV004333308] |
Chr18:58537267 [GRCh38] Chr18:56204499 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3981T>G (p.Ser1327Arg) |
single nucleotide variant |
not specified [RCV004333309] |
Chr18:58536206 [GRCh38] Chr18:56203438 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4470C>T (p.Ala1490=) |
single nucleotide variant |
not specified [RCV004333310] |
Chr18:58535717 [GRCh38] Chr18:56202949 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2472G>A (p.Gly824=) |
single nucleotide variant |
not specified [RCV004333311] |
Chr18:58537715 [GRCh38] Chr18:56204947 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2670T>A (p.Phe890Leu) |
single nucleotide variant |
not specified [RCV004333312] |
Chr18:58537517 [GRCh38] Chr18:56204749 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2839T>C (p.Ser947Pro) |
single nucleotide variant |
not specified [RCV004333313] |
Chr18:58537348 [GRCh38] Chr18:56204580 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5283C>G (p.Leu1761=) |
single nucleotide variant |
not specified [RCV004333314] |
Chr18:58534904 [GRCh38] Chr18:56202136 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5735G>T (p.Gly1912Val) |
single nucleotide variant |
not specified [RCV004333315] |
Chr18:58517113 [GRCh38] Chr18:56184345 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4642A>G (p.Met1548Val) |
single nucleotide variant |
not specified [RCV004333316] |
Chr18:58535545 [GRCh38] Chr18:56202777 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4555G>A (p.Gly1519Arg) |
single nucleotide variant |
not specified [RCV004333317] |
Chr18:58535632 [GRCh38] Chr18:56202864 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2489A>G (p.Tyr830Cys) |
single nucleotide variant |
not specified [RCV004333318] |
Chr18:58537698 [GRCh38] Chr18:56204930 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5951T>C (p.Val1984Ala) |
single nucleotide variant |
not specified [RCV004333319] |
Chr18:58515071 [GRCh38] Chr18:56182303 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.889C>T (p.Pro297Ser) |
single nucleotide variant |
not specified [RCV004333320] |
Chr18:58579887 [GRCh38] Chr18:56247119 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3866C>T (p.Ala1289Val) |
single nucleotide variant |
not specified [RCV004333321] |
Chr18:58536321 [GRCh38] Chr18:56203553 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2567A>G (p.Asn856Ser) |
single nucleotide variant |
not specified [RCV004333322] |
Chr18:58537620 [GRCh38] Chr18:56204852 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2217T>C (p.Tyr739=) |
single nucleotide variant |
not specified [RCV004333323] |
Chr18:58537970 [GRCh38] Chr18:56205202 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4606T>C (p.Ser1536Pro) |
single nucleotide variant |
not specified [RCV004333324] |
Chr18:58535581 [GRCh38] Chr18:56202813 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3825A>T (p.Val1275=) |
single nucleotide variant |
not specified [RCV004333325] |
Chr18:58536362 [GRCh38] Chr18:56203594 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5200A>C (p.Arg1734=) |
single nucleotide variant |
not specified [RCV004333326] |
Chr18:58534987 [GRCh38] Chr18:56202219 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1963G>A (p.Val655Ile) |
single nucleotide variant |
not specified [RCV004333328] |
Chr18:58538224 [GRCh38] Chr18:56205456 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2420T>G (p.Phe807Cys) |
single nucleotide variant |
not specified [RCV004333329] |
Chr18:58537767 [GRCh38] Chr18:56204999 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.192T>A (p.Phe64Leu) |
single nucleotide variant |
not specified [RCV004333330] |
Chr18:58607357 [GRCh38] Chr18:56274589 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.5605G>C (p.Ala1869Pro) |
single nucleotide variant |
not specified [RCV004333331] |
Chr18:58523959 [GRCh38] Chr18:56191191 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3486T>C (p.Ala1162=) |
single nucleotide variant |
not specified [RCV004333332] |
Chr18:58536701 [GRCh38] Chr18:56203933 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3473C>T (p.Pro1158Leu) |
single nucleotide variant |
not specified [RCV004333333] |
Chr18:58536714 [GRCh38] Chr18:56203946 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3798C>T (p.Leu1266=) |
single nucleotide variant |
not specified [RCV004333334] |
Chr18:58536389 [GRCh38] Chr18:56203621 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.952T>C (p.Tyr318His) |
single nucleotide variant |
not specified [RCV004333335] |
Chr18:58579824 [GRCh38] Chr18:56247056 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2014G>A (p.Ala672Thr) |
single nucleotide variant |
not specified [RCV004333336] |
Chr18:58538173 [GRCh38] Chr18:56205405 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1069T>A (p.Leu357Ile) |
single nucleotide variant |
not specified [RCV004333337] |
Chr18:58579707 [GRCh38] Chr18:56246939 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3732C>G (p.Ser1244=) |
single nucleotide variant |
not specified [RCV004333338] |
Chr18:58536455 [GRCh38] Chr18:56203687 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6334A>G (p.Ile2112Val) |
single nucleotide variant |
not specified [RCV004333339] |
Chr18:58482002 [GRCh38] Chr18:56149234 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3651C>G (p.Ile1217Met) |
single nucleotide variant |
not specified [RCV004333340] |
Chr18:58536536 [GRCh38] Chr18:56203768 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2186T>A (p.Ile729Lys) |
single nucleotide variant |
not specified [RCV004333341] |
Chr18:58538001 [GRCh38] Chr18:56205233 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2655C>T (p.Val885=) |
single nucleotide variant |
not specified [RCV004333342] |
Chr18:58537532 [GRCh38] Chr18:56204764 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5492T>G (p.Val1831Gly) |
single nucleotide variant |
not specified [RCV004333343] |
Chr18:58529100 [GRCh38] Chr18:56196332 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5491G>A (p.Val1831Met) |
single nucleotide variant |
not specified [RCV004333344] |
Chr18:58529101 [GRCh38] Chr18:56196333 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.106T>C (p.Ser36Pro) |
single nucleotide variant |
not specified [RCV004333345] |
Chr18:58611692 [GRCh38] Chr18:56278924 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.250G>A (p.Val84Ile) |
single nucleotide variant |
not specified [RCV004333346] |
Chr18:58580526 [GRCh38] Chr18:56247758 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5157C>G (p.Gly1719=) |
single nucleotide variant |
not specified [RCV004333347] |
Chr18:58535030 [GRCh38] Chr18:56202262 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5767C>G (p.Leu1923Val) |
single nucleotide variant |
not specified [RCV004333349] |
Chr18:58517081 [GRCh38] Chr18:56184313 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2726A>G (p.Glu909Gly) |
single nucleotide variant |
not specified [RCV004333350] |
Chr18:58537461 [GRCh38] Chr18:56204693 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1636C>A (p.Pro546Thr) |
single nucleotide variant |
not specified [RCV004333351] |
Chr18:58579140 [GRCh38] Chr18:56246372 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1893G>A (p.Lys631=) |
single nucleotide variant |
not specified [RCV004333352] |
Chr18:58578883 [GRCh38] Chr18:56246115 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.623C>G (p.Thr208Arg) |
single nucleotide variant |
not specified [RCV004333353] |
Chr18:58580153 [GRCh38] Chr18:56247385 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1006A>G (p.Met336Val) |
single nucleotide variant |
not specified [RCV004333354] |
Chr18:58579770 [GRCh38] Chr18:56247002 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.991G>C (p.Glu331Gln) |
single nucleotide variant |
not specified [RCV004333355] |
Chr18:58579785 [GRCh38] Chr18:56247017 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5520T>A (p.Thr1840=) |
single nucleotide variant |
not specified [RCV004333356] |
Chr18:58524044 [GRCh38] Chr18:56191276 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4908A>T (p.Gln1636His) |
single nucleotide variant |
not specified [RCV004333357] |
Chr18:58535279 [GRCh38] Chr18:56202511 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3035C>T (p.Thr1012Ile) |
single nucleotide variant |
not specified [RCV004333358] |
Chr18:58537152 [GRCh38] Chr18:56204384 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2240A>G (p.Asn747Ser) |
single nucleotide variant |
not specified [RCV004333360] |
Chr18:58537947 [GRCh38] Chr18:56205179 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3804T>G (p.Ile1268Met) |
single nucleotide variant |
not specified [RCV004333361] |
Chr18:58536383 [GRCh38] Chr18:56203615 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6352C>G (p.Leu2118Val) |
single nucleotide variant |
not specified [RCV004333362] |
Chr18:58481984 [GRCh38] Chr18:56149216 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4628G>T (p.Ser1543Ile) |
single nucleotide variant |
not specified [RCV004333363] |
Chr18:58535559 [GRCh38] Chr18:56202791 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4296A>G (p.Glu1432=) |
single nucleotide variant |
not specified [RCV004364242] |
Chr18:58535891 [GRCh38] Chr18:56203123 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3392G>A (p.Ser1131Asn) |
single nucleotide variant |
not specified [RCV004364243] |
Chr18:58536795 [GRCh38] Chr18:56204027 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1345T>C (p.Tyr449His) |
single nucleotide variant |
not specified [RCV004364244] |
Chr18:58579431 [GRCh38] Chr18:56246663 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2602G>A (p.Val868Met) |
single nucleotide variant |
not specified [RCV004364245] |
Chr18:58537585 [GRCh38] Chr18:56204817 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5572T>C (p.Cys1858Arg) |
single nucleotide variant |
not specified [RCV004364246] |
Chr18:58523992 [GRCh38] Chr18:56191224 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6424C>G (p.Gln2142Glu) |
single nucleotide variant |
not specified [RCV004364247] |
Chr18:58481912 [GRCh38] Chr18:56149144 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5852C>T (p.Ala1951Val) |
single nucleotide variant |
not specified [RCV004364248] |
Chr18:58516996 [GRCh38] Chr18:56184228 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.555C>T (p.Ser185=) |
single nucleotide variant |
not specified [RCV004364249] |
Chr18:58580221 [GRCh38] Chr18:56247453 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.79T>C (p.Ser27Pro) |
single nucleotide variant |
not specified [RCV004364250] |
Chr18:58611719 [GRCh38] Chr18:56278951 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2282C>T (p.Pro761Leu) |
single nucleotide variant |
not specified [RCV004364251] |
Chr18:58537905 [GRCh38] Chr18:56205137 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5936C>T (p.Ala1979Val) |
single nucleotide variant |
not specified [RCV004364252] |
Chr18:58516912 [GRCh38] Chr18:56184144 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4928C>T (p.Pro1643Leu) |
single nucleotide variant |
not specified [RCV004364253] |
Chr18:58535259 [GRCh38] Chr18:56202491 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1142T>G (p.Met381Arg) |
single nucleotide variant |
not specified [RCV004364254] |
Chr18:58579634 [GRCh38] Chr18:56246866 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.370G>C (p.Gly124Arg) |
single nucleotide variant |
not specified [RCV004364255] |
Chr18:58580406 [GRCh38] Chr18:56247638 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.883C>T (p.Pro295Ser) |
single nucleotide variant |
not specified [RCV004364256] |
Chr18:58579893 [GRCh38] Chr18:56247125 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1937T>A (p.Val646Asp) |
single nucleotide variant |
not specified [RCV004364257] |
Chr18:58578839 [GRCh38] Chr18:56246071 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2905G>T (p.Ala969Ser) |
single nucleotide variant |
not specified [RCV004364258] |
Chr18:58537282 [GRCh38] Chr18:56204514 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1000G>C (p.Asp334His) |
single nucleotide variant |
not specified [RCV004364259] |
Chr18:58579776 [GRCh38] Chr18:56247008 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1070T>C (p.Leu357Ser) |
single nucleotide variant |
not specified [RCV004364260] |
Chr18:58579706 [GRCh38] Chr18:56246938 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3826C>T (p.Pro1276Ser) |
single nucleotide variant |
not specified [RCV004364261] |
Chr18:58536361 [GRCh38] Chr18:56203593 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3517G>C (p.Ala1173Pro) |
single nucleotide variant |
not specified [RCV004364262] |
Chr18:58536670 [GRCh38] Chr18:56203902 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3053A>C (p.His1018Pro) |
single nucleotide variant |
not specified [RCV004364263] |
Chr18:58537134 [GRCh38] Chr18:56204366 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5071C>T (p.Leu1691=) |
single nucleotide variant |
not specified [RCV004360985] |
Chr18:58535116 [GRCh38] Chr18:56202348 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5477A>C (p.Lys1826Thr) |
single nucleotide variant |
not specified [RCV004360999] |
Chr18:58529115 [GRCh38] Chr18:56196347 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4531G>C (p.Gly1511Arg) |
single nucleotide variant |
not specified [RCV004360916] |
Chr18:58535656 [GRCh38] Chr18:56202888 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4356G>T (p.Leu1452Phe) |
single nucleotide variant |
not specified [RCV004360917] |
Chr18:58535831 [GRCh38] Chr18:56203063 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1855A>G (p.Thr619Ala) |
single nucleotide variant |
not specified [RCV004360918] |
Chr18:58578921 [GRCh38] Chr18:56246153 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.147T>G (p.Gly49=) |
single nucleotide variant |
not specified [RCV004360919] |
Chr18:58607402 [GRCh38] Chr18:56274634 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.5046A>T (p.Lys1682Asn) |
single nucleotide variant |
not specified [RCV004360920] |
Chr18:58535141 [GRCh38] Chr18:56202373 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5833G>T (p.Val1945Phe) |
single nucleotide variant |
not specified [RCV004360921] |
Chr18:58517015 [GRCh38] Chr18:56184247 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1557A>C (p.Arg519Ser) |
single nucleotide variant |
not specified [RCV004360922] |
Chr18:58579219 [GRCh38] Chr18:56246451 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3018G>A (p.Glu1006=) |
single nucleotide variant |
not specified [RCV004360923] |
Chr18:58537169 [GRCh38] Chr18:56204401 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3456T>C (p.Asp1152=) |
single nucleotide variant |
not specified [RCV004360937] |
Chr18:58536731 [GRCh38] Chr18:56203963 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6183T>C (p.Cys2061=) |
single nucleotide variant |
not specified [RCV004334154] |
Chr18:58503995 [GRCh38] Chr18:56171227 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6283A>G (p.Thr2095Ala) |
single nucleotide variant |
not specified [RCV004336311] |
Chr18:58498062 [GRCh38] Chr18:56165294 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2803A>C (p.Ser935Arg) |
single nucleotide variant |
not specified [RCV004362670] |
Chr18:58537384 [GRCh38] Chr18:56204616 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.210T>C (p.His70=) |
single nucleotide variant |
not specified [RCV004362681] |
Chr18:58607339 [GRCh38] Chr18:56274571 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.3320C>G (p.Ser1107Cys) |
single nucleotide variant |
not specified [RCV004360946] |
Chr18:58536867 [GRCh38] Chr18:56204099 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1147T>C (p.Cys383Arg) |
single nucleotide variant |
not specified [RCV004360947] |
Chr18:58579629 [GRCh38] Chr18:56246861 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4987G>C (p.Glu1663Gln) |
single nucleotide variant |
not specified [RCV004360948] |
Chr18:58535200 [GRCh38] Chr18:56202432 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6186C>T (p.Cys2062=) |
single nucleotide variant |
not specified [RCV004360949] |
Chr18:58503992 [GRCh38] Chr18:56171224 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4380C>A (p.Thr1460=) |
single nucleotide variant |
not specified [RCV004362692] |
Chr18:58535807 [GRCh38] Chr18:56203039 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.369G>T (p.Arg123Ser) |
single nucleotide variant |
not specified [RCV004362714] |
Chr18:58580407 [GRCh38] Chr18:56247639 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1904T>C (p.Met635Thr) |
single nucleotide variant |
not specified [RCV004362725] |
Chr18:58578872 [GRCh38] Chr18:56246104 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3423C>G (p.Ser1141Arg) |
single nucleotide variant |
not specified [RCV004362726] |
Chr18:58536764 [GRCh38] Chr18:56203996 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3177T>C (p.His1059=) |
single nucleotide variant |
not specified [RCV004362735] |
Chr18:58537010 [GRCh38] Chr18:56204242 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2722G>A (p.Gly908Arg) |
single nucleotide variant |
not specified [RCV004360950] |
Chr18:58537465 [GRCh38] Chr18:56204697 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5080C>G (p.Arg1694Gly) |
single nucleotide variant |
not specified [RCV004360952] |
Chr18:58535107 [GRCh38] Chr18:56202339 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2640G>A (p.Lys880=) |
single nucleotide variant |
not specified [RCV004362737] |
Chr18:58537547 [GRCh38] Chr18:56204779 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5018G>A (p.Cys1673Tyr) |
single nucleotide variant |
not specified [RCV004362739] |
Chr18:58535169 [GRCh38] Chr18:56202401 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.816C>T (p.Phe272=) |
single nucleotide variant |
not specified [RCV004362742] |
Chr18:58579960 [GRCh38] Chr18:56247192 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4781A>T (p.Glu1594Val) |
single nucleotide variant |
not specified [RCV004360953] |
Chr18:58535406 [GRCh38] Chr18:56202638 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2437G>A (p.Gly813Arg) |
single nucleotide variant |
not specified [RCV004360956] |
Chr18:58537750 [GRCh38] Chr18:56204982 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6383T>C (p.Leu2128Pro) |
single nucleotide variant |
not specified [RCV004360959] |
Chr18:58481953 [GRCh38] Chr18:56149185 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1103A>T (p.Glu368Val) |
single nucleotide variant |
not specified [RCV004360965] |
Chr18:58579673 [GRCh38] Chr18:56246905 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3734C>T (p.Ala1245Val) |
single nucleotide variant |
not specified [RCV004360967] |
Chr18:58536453 [GRCh38] Chr18:56203685 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4418G>T (p.Gly1473Val) |
single nucleotide variant |
not specified [RCV004360969] |
Chr18:58535769 [GRCh38] Chr18:56203001 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3181T>A (p.Leu1061Ile) |
single nucleotide variant |
not specified [RCV004360970] |
Chr18:58537006 [GRCh38] Chr18:56204238 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3956C>T (p.Pro1319Leu) |
single nucleotide variant |
not specified [RCV004360951] |
Chr18:58536231 [GRCh38] Chr18:56203463 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3496G>C (p.Glu1166Gln) |
single nucleotide variant |
not specified [RCV004360960] |
Chr18:58536691 [GRCh38] Chr18:56203923 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.88G>A (p.Val30Met) |
single nucleotide variant |
not specified [RCV004360966] |
Chr18:58611710 [GRCh38] Chr18:56278942 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.6428C>A (p.Pro2143Gln) |
single nucleotide variant |
not specified [RCV004360974] |
Chr18:58481908 [GRCh38] Chr18:56149140 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4109A>G (p.Asn1370Ser) |
single nucleotide variant |
not specified [RCV004360993] |
Chr18:58536078 [GRCh38] Chr18:56203310 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1893G>C (p.Lys631Asn) |
single nucleotide variant |
not specified [RCV004360995] |
Chr18:58578883 [GRCh38] Chr18:56246115 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2434C>G (p.Gln812Glu) |
single nucleotide variant |
not specified [RCV004360994] |
Chr18:58537753 [GRCh38] Chr18:56204985 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.230G>C (p.Cys77Ser) |
single nucleotide variant |
not specified [RCV004360939] |
Chr18:58580546 [GRCh38] Chr18:56247778 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4329C>A (p.His1443Gln) |
single nucleotide variant |
not specified [RCV004360961] |
Chr18:58535858 [GRCh38] Chr18:56203090 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.584G>A (p.Gly195Glu) |
single nucleotide variant |
not specified [RCV004360964] |
Chr18:58580192 [GRCh38] Chr18:56247424 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3867C>T (p.Ala1289=) |
single nucleotide variant |
not specified [RCV004360973] |
Chr18:58536320 [GRCh38] Chr18:56203552 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2056A>C (p.Thr686Pro) |
single nucleotide variant |
not specified [RCV004360984] |
Chr18:58538131 [GRCh38] Chr18:56205363 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3751C>G (p.Pro1251Ala) |
single nucleotide variant |
not specified [RCV004360990] |
Chr18:58536436 [GRCh38] Chr18:56203668 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1111C>G (p.Leu371Val) |
single nucleotide variant |
not specified [RCV004360992] |
Chr18:58579665 [GRCh38] Chr18:56246897 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3480A>G (p.Thr1160=) |
single nucleotide variant |
not specified [RCV004360996] |
Chr18:58536707 [GRCh38] Chr18:56203939 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6328A>G (p.Thr2110Ala) |
single nucleotide variant |
not specified [RCV004360998] |
Chr18:58482008 [GRCh38] Chr18:56149240 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5177G>C (p.Gly1726Ala) |
single nucleotide variant |
not specified [RCV004360976] |
Chr18:58535010 [GRCh38] Chr18:56202242 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.406A>T (p.Arg136Trp) |
single nucleotide variant |
not specified [RCV004360991] |
Chr18:58580370 [GRCh38] Chr18:56247602 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.428A>T (p.Lys143Met) |
single nucleotide variant |
not specified [RCV004361001] |
Chr18:58580348 [GRCh38] Chr18:56247580 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3274G>C (p.Gly1092Arg) |
single nucleotide variant |
not specified [RCV004360988] |
Chr18:58536913 [GRCh38] Chr18:56204145 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3987T>C (p.Ser1329=) |
single nucleotide variant |
not specified [RCV004360997] |
Chr18:58536200 [GRCh38] Chr18:56203432 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.452A>G (p.Glu151Gly) |
single nucleotide variant |
not specified [RCV004360924] |
Chr18:58580324 [GRCh38] Chr18:56247556 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5725T>C (p.Tyr1909His) |
single nucleotide variant |
not specified [RCV004360925] |
Chr18:58517123 [GRCh38] Chr18:56184355 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4821G>A (p.Arg1607=) |
single nucleotide variant |
not specified [RCV004360926] |
Chr18:58535366 [GRCh38] Chr18:56202598 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5377C>G (p.Gln1793Glu) |
single nucleotide variant |
not specified [RCV004360927] |
Chr18:58529215 [GRCh38] Chr18:56196447 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2670T>C (p.Phe890=) |
single nucleotide variant |
not specified [RCV004360928] |
Chr18:58537517 [GRCh38] Chr18:56204749 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1152G>T (p.Gly384=) |
single nucleotide variant |
not specified [RCV004360929] |
Chr18:58579624 [GRCh38] Chr18:56246856 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6468A>C (p.Thr2156=) |
single nucleotide variant |
not specified [RCV004360930] |
Chr18:58481868 [GRCh38] Chr18:56149100 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5716C>T (p.His1906Tyr) |
single nucleotide variant |
not specified [RCV004360989] |
Chr18:58517132 [GRCh38] Chr18:56184364 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3818G>C (p.Trp1273Ser) |
single nucleotide variant |
not specified [RCV004336312] |
Chr18:58536369 [GRCh38] Chr18:56203601 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5157C>A (p.Gly1719=) |
single nucleotide variant |
not specified [RCV004362649] |
Chr18:58535030 [GRCh38] Chr18:56202262 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5728T>C (p.Phe1910Leu) |
single nucleotide variant |
not specified [RCV004334155] |
Chr18:58517120 [GRCh38] Chr18:56184352 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5901T>C (p.Asn1967=) |
single nucleotide variant |
not specified [RCV004362734] |
Chr18:58516947 [GRCh38] Chr18:56184179 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4518T>C (p.Ser1506=) |
single nucleotide variant |
not specified [RCV004362736] |
Chr18:58535669 [GRCh38] Chr18:56202901 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3927T>G (p.Asp1309Glu) |
single nucleotide variant |
not specified [RCV004362762] |
Chr18:58536260 [GRCh38] Chr18:56203492 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2841T>C (p.Ser947=) |
single nucleotide variant |
not specified [RCV004362760] |
Chr18:58537346 [GRCh38] Chr18:56204578 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3131C>T (p.Ser1044Phe) |
single nucleotide variant |
not specified [RCV004362753] |
Chr18:58537056 [GRCh38] Chr18:56204288 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1475G>C (p.Arg492Thr) |
single nucleotide variant |
not specified [RCV004362761] |
Chr18:58579301 [GRCh38] Chr18:56246533 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1487T>C (p.Met496Thr) |
single nucleotide variant |
not specified [RCV004360942] |
Chr18:58579289 [GRCh38] Chr18:56246521 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2376T>G (p.Cys792Trp) |
single nucleotide variant |
not specified [RCV004360971] |
Chr18:58537811 [GRCh38] Chr18:56205043 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.45A>T (p.Leu15Phe) |
single nucleotide variant |
not specified [RCV004360972] |
Chr18:58611753 [GRCh38] Chr18:56278985 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.209A>G (p.His70Arg) |
single nucleotide variant |
not specified [RCV004360941] |
Chr18:58607340 [GRCh38] Chr18:56274572 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1067T>C (p.Leu356Ser) |
single nucleotide variant |
not specified [RCV004360943] |
Chr18:58579709 [GRCh38] Chr18:56246941 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3642C>T (p.Leu1214=) |
single nucleotide variant |
not specified [RCV004360945] |
Chr18:58536545 [GRCh38] Chr18:56203777 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1080T>C (p.Asp360=) |
single nucleotide variant |
not specified [RCV004362703] |
Chr18:58579696 [GRCh38] Chr18:56246928 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3049G>C (p.Val1017Leu) |
single nucleotide variant |
not specified [RCV004362733] |
Chr18:58537138 [GRCh38] Chr18:56204370 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3727G>A (p.Ala1243Thr) |
single nucleotide variant |
not specified [RCV004360955] |
Chr18:58536460 [GRCh38] Chr18:56203692 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5847C>T (p.Gly1949=) |
single nucleotide variant |
not specified [RCV004360963] |
Chr18:58517001 [GRCh38] Chr18:56184233 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.178A>G (p.Asn60Asp) |
single nucleotide variant |
not specified [RCV004360940] |
Chr18:58607371 [GRCh38] Chr18:56274603 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1717C>A (p.Pro573Thr) |
single nucleotide variant |
not specified [RCV004360944] |
Chr18:58579059 [GRCh38] Chr18:56246291 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3075G>A (p.Val1025=) |
single nucleotide variant |
not specified [RCV004360978] |
Chr18:58537112 [GRCh38] Chr18:56204344 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1684C>T (p.Leu562Phe) |
single nucleotide variant |
not specified [RCV004360980] |
Chr18:58579092 [GRCh38] Chr18:56246324 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3693G>T (p.Glu1231Asp) |
single nucleotide variant |
not specified [RCV004360981] |
Chr18:58536494 [GRCh38] Chr18:56203726 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3733G>C (p.Ala1245Pro) |
single nucleotide variant |
not specified [RCV004360983] |
Chr18:58536454 [GRCh38] Chr18:56203686 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1358C>T (p.Thr453Ile) |
single nucleotide variant |
not specified [RCV004360954] |
Chr18:58579418 [GRCh38] Chr18:56246650 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2676T>C (p.Ser892=) |
single nucleotide variant |
not specified [RCV004362738] |
Chr18:58537511 [GRCh38] Chr18:56204743 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6304G>C (p.Gly2102Arg) |
single nucleotide variant |
not specified [RCV004360968] |
Chr18:58482032 [GRCh38] Chr18:56149264 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6426G>A (p.Gln2142=) |
single nucleotide variant |
not specified [RCV004360975] |
Chr18:58481910 [GRCh38] Chr18:56149142 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1042C>T (p.Leu348=) |
single nucleotide variant |
not specified [RCV004360982] |
Chr18:58579734 [GRCh38] Chr18:56246966 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5732G>A (p.Gly1911Glu) |
single nucleotide variant |
not specified [RCV004361000] |
Chr18:58517116 [GRCh38] Chr18:56184348 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5610A>G (p.Glu1870=) |
single nucleotide variant |
not specified [RCV004360931] |
Chr18:58523954 [GRCh38] Chr18:56191186 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6481G>C (p.Gly2161Arg) |
single nucleotide variant |
not specified [RCV004360932] |
Chr18:58481855 [GRCh38] Chr18:56149087 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5038T>C (p.Cys1680Arg) |
single nucleotide variant |
not specified [RCV004360933] |
Chr18:58535149 [GRCh38] Chr18:56202381 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6170C>G (p.Ala2057Gly) |
single nucleotide variant |
not specified [RCV004360934] |
Chr18:58504008 [GRCh38] Chr18:56171240 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3005C>A (p.Thr1002Asn) |
single nucleotide variant |
not specified [RCV004360935] |
Chr18:58537182 [GRCh38] Chr18:56204414 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2033G>T (p.Gly678Val) |
single nucleotide variant |
not specified [RCV004360936] |
Chr18:58538154 [GRCh38] Chr18:56205386 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4669A>G (p.Thr1557Ala) |
single nucleotide variant |
not specified [RCV004360938] |
Chr18:58535518 [GRCh38] Chr18:56202750 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.604G>A (p.Ala202Thr) |
single nucleotide variant |
ALPK2-related disorder [RCV003939308] |
Chr18:58580172 [GRCh38] Chr18:56247404 [GRCh37] Chr18:18q21.31 |
benign |
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 |
copy number loss |
not specified [RCV003986103] |
Chr18:48766173..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 |
copy number loss |
not specified [RCV003987273] |
Chr18:55363398..78014123 [GRCh37] Chr18:18q21.31-23 |
pathogenic |
NM_052947.4(ALPK2):c.5650C>T (p.Arg1884Cys) |
single nucleotide variant |
ALPK2-related disorder [RCV003976710] |
Chr18:58523821 [GRCh38] Chr18:56191053 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.1005T>C (p.Val335=) |
single nucleotide variant |
not specified [RCV004520234] |
Chr18:58579771 [GRCh38] Chr18:56247003 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.100A>G (p.Ile34Val) |
single nucleotide variant |
not specified [RCV004520235] |
Chr18:58611698 [GRCh38] Chr18:56278930 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1019C>A (p.Ser340Tyr) |
single nucleotide variant |
not specified [RCV004520236] |
Chr18:58579757 [GRCh38] Chr18:56246989 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1072G>A (p.Glu358Lys) |
single nucleotide variant |
not specified [RCV004520239] |
Chr18:58579704 [GRCh38] Chr18:56246936 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1093G>A (p.Glu365Lys) |
single nucleotide variant |
not specified [RCV004520240] |
Chr18:58579683 [GRCh38] Chr18:56246915 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1122T>C (p.Cys374=) |
single nucleotide variant |
not specified [RCV004520242] |
Chr18:58579654 [GRCh38] Chr18:56246886 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1141A>G (p.Met381Val) |
single nucleotide variant |
not specified [RCV004520243] |
Chr18:58579635 [GRCh38] Chr18:56246867 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1183G>A (p.Val395Ile) |
single nucleotide variant |
not specified [RCV004520246] |
Chr18:58579593 [GRCh38] Chr18:56246825 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.118A>G (p.Lys40Glu) |
single nucleotide variant |
not specified [RCV004520248] |
Chr18:58607431 [GRCh38] Chr18:56274663 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1193C>T (p.Ala398Val) |
single nucleotide variant |
not specified [RCV004520249] |
Chr18:58579583 [GRCh38] Chr18:56246815 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1242C>T (p.Ser414=) |
single nucleotide variant |
not specified [RCV004520251] |
Chr18:58579534 [GRCh38] Chr18:56246766 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1312G>A (p.Asp438Asn) |
single nucleotide variant |
not specified [RCV004520253] |
Chr18:58579464 [GRCh38] Chr18:56246696 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1341G>T (p.Gly447=) |
single nucleotide variant |
not specified [RCV004520255] |
Chr18:58579435 [GRCh38] Chr18:56246667 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1463A>C (p.Asp488Ala) |
single nucleotide variant |
not specified [RCV004520257] |
Chr18:58579313 [GRCh38] Chr18:56246545 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1568A>C (p.Lys523Thr) |
single nucleotide variant |
not specified [RCV004520260] |
Chr18:58579208 [GRCh38] Chr18:56246440 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1595G>T (p.Arg532Met) |
single nucleotide variant |
not specified [RCV004520261] |
Chr18:58579181 [GRCh38] Chr18:56246413 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1631G>A (p.Gly544Glu) |
single nucleotide variant |
not specified [RCV004520263] |
Chr18:58579145 [GRCh38] Chr18:56246377 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1659G>C (p.Leu553=) |
single nucleotide variant |
not specified [RCV004520264] |
Chr18:58579117 [GRCh38] Chr18:56246349 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1745A>G (p.Glu582Gly) |
single nucleotide variant |
not specified [RCV004520265] |
Chr18:58579031 [GRCh38] Chr18:56246263 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.174T>G (p.Ile58Met) |
single nucleotide variant |
not specified [RCV004520266] |
Chr18:58607375 [GRCh38] Chr18:56274607 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1767A>G (p.Ala589=) |
single nucleotide variant |
not specified [RCV004520268] |
Chr18:58579009 [GRCh38] Chr18:56246241 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.176C>T (p.Ser59Phe) |
single nucleotide variant |
not specified [RCV004520269] |
Chr18:58607373 [GRCh38] Chr18:56274605 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1835C>T (p.Ala612Val) |
single nucleotide variant |
not specified [RCV004520276] |
Chr18:58578941 [GRCh38] Chr18:56246173 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1934A>G (p.Gln645Arg) |
single nucleotide variant |
not specified [RCV004520279] |
Chr18:58578842 [GRCh38] Chr18:56246074 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1949G>A (p.Ser650Asn) |
single nucleotide variant |
not specified [RCV004520280] |
Chr18:58578827 [GRCh38] Chr18:56246059 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1955C>T (p.Pro652Leu) |
single nucleotide variant |
not specified [RCV004520281] |
Chr18:58578821 [GRCh38] Chr18:56246053 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1979C>G (p.Thr660Arg) |
single nucleotide variant |
not specified [RCV004520283] |
Chr18:58538208 [GRCh38] Chr18:56205440 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1990A>G (p.Thr664Ala) |
single nucleotide variant |
not specified [RCV004520285] |
Chr18:58538197 [GRCh38] Chr18:56205429 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1991C>T (p.Thr664Ile) |
single nucleotide variant |
not specified [RCV004520286] |
Chr18:58538196 [GRCh38] Chr18:56205428 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1993A>T (p.Ile665Phe) |
single nucleotide variant |
not specified [RCV004520287] |
Chr18:58538194 [GRCh38] Chr18:56205426 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2005C>A (p.Gln669Lys) |
single nucleotide variant |
not specified [RCV004520288] |
Chr18:58538182 [GRCh38] Chr18:56205414 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2026C>A (p.Pro676Thr) |
single nucleotide variant |
not specified [RCV004520289] |
Chr18:58538161 [GRCh38] Chr18:56205393 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1619C>T (p.Pro540Leu) |
single nucleotide variant |
ALPK2-related disorder [RCV003914532] |
Chr18:58579157 [GRCh38] Chr18:56246389 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2194A>G (p.Asn732Asp) |
single nucleotide variant |
not specified [RCV004520304] |
Chr18:58537993 [GRCh38] Chr18:56205225 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2184C>T (p.Asn728=) |
single nucleotide variant |
not specified [RCV004520303] |
Chr18:58538003 [GRCh38] Chr18:56205235 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2179G>A (p.Gly727Ser) |
single nucleotide variant |
not specified [RCV004520302] |
Chr18:58538008 [GRCh38] Chr18:56205240 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2150C>T (p.Pro717Leu) |
single nucleotide variant |
not specified [RCV004520299] |
Chr18:58538037 [GRCh38] Chr18:56205269 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2140A>G (p.Thr714Ala) |
single nucleotide variant |
not specified [RCV004520297] |
Chr18:58538047 [GRCh38] Chr18:56205279 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2139T>C (p.Cys713=) |
single nucleotide variant |
not specified [RCV004520296] |
Chr18:58538048 [GRCh38] Chr18:56205280 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2101A>T (p.Asn701Tyr) |
single nucleotide variant |
not specified [RCV004520294] |
Chr18:58538086 [GRCh38] Chr18:56205318 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2090T>A (p.Val697Asp) |
single nucleotide variant |
not specified [RCV004520293] |
Chr18:58538097 [GRCh38] Chr18:56205329 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4736A>G (p.Gln1579Arg) |
single nucleotide variant |
ALPK2-related disorder [RCV003974360] |
Chr18:58535451 [GRCh38] Chr18:56202683 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2428G>A (p.Gly810Ser) |
single nucleotide variant |
ALPK2-related disorder [RCV003974557] |
Chr18:58537759 [GRCh38] Chr18:56204991 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2623A>C (p.Thr875Pro) |
single nucleotide variant |
ALPK2-related disorder [RCV003976330] |
Chr18:58537564 [GRCh38] Chr18:56204796 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.1163C>G (p.Ser388Trp) |
single nucleotide variant |
not specified [RCV004520245] |
Chr18:58579613 [GRCh38] Chr18:56246845 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1288A>G (p.Thr430Ala) |
single nucleotide variant |
not specified [RCV004520252] |
Chr18:58579488 [GRCh38] Chr18:56246720 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1328T>C (p.Val443Ala) |
single nucleotide variant |
not specified [RCV004520254] |
Chr18:58579448 [GRCh38] Chr18:56246680 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1477G>C (p.Glu493Gln) |
single nucleotide variant |
not specified [RCV004520258] |
Chr18:58579299 [GRCh38] Chr18:56246531 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1617G>T (p.Gln539His) |
single nucleotide variant |
not specified [RCV004520262] |
Chr18:58579159 [GRCh38] Chr18:56246391 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1790C>G (p.Ala597Gly) |
single nucleotide variant |
not specified [RCV004520272] |
Chr18:58578986 [GRCh38] Chr18:56246218 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1829A>G (p.Gln610Arg) |
single nucleotide variant |
not specified [RCV004520274] |
Chr18:58578947 [GRCh38] Chr18:56246179 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1967A>G (p.Gln656Arg) |
single nucleotide variant |
not specified [RCV004520282] |
Chr18:58538220 [GRCh38] Chr18:56205452 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2136C>T (p.Pro712=) |
single nucleotide variant |
not specified [RCV004520295] |
Chr18:58538051 [GRCh38] Chr18:56205283 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2487A>C (p.Lys829Asn) |
single nucleotide variant |
ALPK2-related disorder [RCV003982179] |
Chr18:58537700 [GRCh38] Chr18:56204932 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.408G>T (p.Arg136Ser) |
single nucleotide variant |
ALPK2-related disorder [RCV003982180] |
Chr18:58580368 [GRCh38] Chr18:56247600 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.1566A>G (p.Gly522=) |
single nucleotide variant |
ALPK2-related disorder [RCV003982456] |
Chr18:58579210 [GRCh38] Chr18:56246442 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.1811T>C (p.Ile604Thr) |
single nucleotide variant |
not specified [RCV004520273] |
Chr18:58578965 [GRCh38] Chr18:56246197 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1926A>G (p.Glu642=) |
single nucleotide variant |
not specified [RCV004520277] |
Chr18:58578850 [GRCh38] Chr18:56246082 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5001A>G (p.Lys1667=) |
single nucleotide variant |
ALPK2-related disorder [RCV003982461] |
Chr18:58535186 [GRCh38] Chr18:56202418 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.4161CTT[1] (p.Phe1389del) |
microsatellite |
ALPK2-related disorder [RCV003982463] |
Chr18:58536021..58536023 [GRCh38] Chr18:56203253..56203255 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2748T>A (p.Asn916Lys) |
single nucleotide variant |
ALPK2-related disorder [RCV003982478] |
Chr18:58537439 [GRCh38] Chr18:56204671 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.1752T>C (p.Ser584=) |
single nucleotide variant |
not specified [RCV004520267] |
Chr18:58579024 [GRCh38] Chr18:56246256 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1783T>A (p.Ser595Thr) |
single nucleotide variant |
not specified [RCV004520270] |
Chr18:58578993 [GRCh38] Chr18:56246225 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2168A>G (p.Gln723Arg) |
single nucleotide variant |
not specified [RCV004520301] |
Chr18:58538019 [GRCh38] Chr18:56205251 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2058C>G (p.Thr686=) |
single nucleotide variant |
not specified [RCV004520292] |
Chr18:58538129 [GRCh38] Chr18:56205361 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5501+4C>T |
single nucleotide variant |
ALPK2-related disorder [RCV003978959] |
Chr18:58529087 [GRCh38] Chr18:56196319 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2625G>A (p.Thr875=) |
single nucleotide variant |
ALPK2-related disorder [RCV003979067] |
Chr18:58537562 [GRCh38] Chr18:56204794 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.1054G>A (p.Glu352Lys) |
single nucleotide variant |
not specified [RCV004520238] |
Chr18:58579722 [GRCh38] Chr18:56246954 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.104T>A (p.Ile35Lys) |
single nucleotide variant |
not specified [RCV004520237] |
Chr18:58611694 [GRCh38] Chr18:56278926 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1151G>A (p.Gly384Glu) |
single nucleotide variant |
not specified [RCV004520244] |
Chr18:58579625 [GRCh38] Chr18:56246857 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1186G>A (p.Ala396Thr) |
single nucleotide variant |
not specified [RCV004520247] |
Chr18:58579590 [GRCh38] Chr18:56246822 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.119A>G (p.Lys40Arg) |
single nucleotide variant |
not specified [RCV004520250] |
Chr18:58607430 [GRCh38] Chr18:56274662 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4345C>T (p.Pro1449Ser) |
single nucleotide variant |
ALPK2-related disorder [RCV003979524] |
Chr18:58535842 [GRCh38] Chr18:56203074 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.5025G>A (p.Lys1675=) |
single nucleotide variant |
ALPK2-related disorder [RCV003979487] |
Chr18:58535162 [GRCh38] Chr18:56202394 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.*7T>C |
single nucleotide variant |
ALPK2-related disorder [RCV003979877] |
Chr18:58481816 [GRCh38] Chr18:56149048 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.3528C>A (p.Pro1176=) |
single nucleotide variant |
ALPK2-related disorder [RCV003984500] |
Chr18:58536659 [GRCh38] Chr18:56203891 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.3972T>C (p.His1324=) |
single nucleotide variant |
ALPK2-related disorder [RCV003984640] |
Chr18:58536215 [GRCh38] Chr18:56203447 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.5299C>T (p.His1767Tyr) |
single nucleotide variant |
ALPK2-related disorder [RCV003984642] |
Chr18:58534888 [GRCh38] Chr18:56202120 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.5A>C (p.Lys2Thr) |
single nucleotide variant |
ALPK2-related disorder [RCV003984596] |
Chr18:58611793 [GRCh38] Chr18:56279025 [GRCh37] Chr18:18q21.32 |
benign |
NM_052947.4(ALPK2):c.5353+7T>C |
single nucleotide variant |
ALPK2-related disorder [RCV003974517] |
Chr18:58534827 [GRCh38] Chr18:56202059 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.5188A>G (p.Lys1730Glu) |
single nucleotide variant |
ALPK2-related disorder [RCV003976608] |
Chr18:58534999 [GRCh38] Chr18:56202231 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.3583G>A (p.Val1195Met) |
single nucleotide variant |
ALPK2-related disorder [RCV003914465] |
Chr18:58536604 [GRCh38] Chr18:56203836 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.5501+5G>A |
single nucleotide variant |
ALPK2-related disorder [RCV003963988] |
Chr18:58529086 [GRCh38] Chr18:56196318 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4651G>T (p.Ala1551Ser) |
single nucleotide variant |
ALPK2-related disorder [RCV003982259] |
Chr18:58535536 [GRCh38] Chr18:56202768 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.3009G>A (p.Arg1003=) |
single nucleotide variant |
ALPK2-related disorder [RCV003982337] |
Chr18:58537178 [GRCh38] Chr18:56204410 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2930G>C (p.Ser977Thr) |
single nucleotide variant |
ALPK2-related disorder [RCV003982364] |
Chr18:58537257 [GRCh38] Chr18:56204489 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.3582C>T (p.Ser1194=) |
single nucleotide variant |
ALPK2-related disorder [RCV003964311] |
Chr18:58536605 [GRCh38] Chr18:56203837 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2493G>A (p.Ser831=) |
single nucleotide variant |
ALPK2-related disorder [RCV003931954] |
Chr18:58537694 [GRCh38] Chr18:56204926 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.4949C>T (p.Ala1650Val) |
single nucleotide variant |
ALPK2-related disorder [RCV003972010] |
Chr18:58535238 [GRCh38] Chr18:56202470 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.457A>G (p.Ile153Val) |
single nucleotide variant |
ALPK2-related disorder [RCV003972028] |
Chr18:58580319 [GRCh38] Chr18:56247551 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.1571A>G (p.Asp524Gly) |
single nucleotide variant |
ALPK2-related disorder [RCV003961541] |
Chr18:58579205 [GRCh38] Chr18:56246437 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.4299G>A (p.Gly1433=) |
single nucleotide variant |
ALPK2-related disorder [RCV003974567] |
Chr18:58535888 [GRCh38] Chr18:56203120 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.828A>G (p.Leu276=) |
single nucleotide variant |
ALPK2-related disorder [RCV003974589] |
Chr18:58579948 [GRCh38] Chr18:56247180 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.3521A>C (p.His1174Pro) |
single nucleotide variant |
ALPK2-related disorder [RCV003974685] |
Chr18:58536666 [GRCh38] Chr18:56203898 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.946_951del (p.Leu316_Thr317del) |
deletion |
ALPK2-related disorder [RCV003951391] |
Chr18:58579825..58579830 [GRCh38] Chr18:56247057..56247062 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4283A>G (p.Gln1428Arg) |
single nucleotide variant |
ALPK2-related disorder [RCV003981327] |
Chr18:58535904 [GRCh38] Chr18:56203136 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.441T>C (p.Tyr147=) |
single nucleotide variant |
ALPK2-related disorder [RCV003979635] |
Chr18:58580335 [GRCh38] Chr18:56247567 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2672C>T (p.Thr891Ile) |
single nucleotide variant |
ALPK2-related disorder [RCV003979807] |
Chr18:58537515 [GRCh38] Chr18:56204747 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2775A>C (p.Val925=) |
single nucleotide variant |
ALPK2-related disorder [RCV003979862] |
Chr18:58537412 [GRCh38] Chr18:56204644 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.4437T>A (p.Ala1479=) |
single nucleotide variant |
ALPK2-related disorder [RCV003979846] |
Chr18:58535750 [GRCh38] Chr18:56202982 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2442G>A (p.Thr814=) |
single nucleotide variant |
ALPK2-related disorder [RCV003984662] |
Chr18:58537745 [GRCh38] Chr18:56204977 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.1190C>T (p.Thr397Ile) |
single nucleotide variant |
ALPK2-related disorder [RCV003976643] |
Chr18:58579586 [GRCh38] Chr18:56246818 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.1326A>C (p.Ser442=) |
single nucleotide variant |
ALPK2-related disorder [RCV003974357] |
Chr18:58579450 [GRCh38] Chr18:56246682 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.6297-9_6297-8del |
deletion |
ALPK2-related disorder [RCV003904175] |
Chr18:58482047..58482048 [GRCh38] Chr18:56149279..56149280 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.4008C>G (p.Pro1336=) |
single nucleotide variant |
ALPK2-related disorder [RCV003981880] |
Chr18:58536179 [GRCh38] Chr18:56203411 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2157T>G (p.His719Gln) |
single nucleotide variant |
ALPK2-related disorder [RCV003982017] |
Chr18:58538030 [GRCh38] Chr18:56205262 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2476C>A (p.Pro826Thr) |
single nucleotide variant |
ALPK2-related disorder [RCV003924516] |
Chr18:58537711 [GRCh38] Chr18:56204943 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5373G>A (p.Lys1791=) |
single nucleotide variant |
ALPK2-related disorder [RCV003982118] |
Chr18:58529219 [GRCh38] Chr18:56196451 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.6469A>G (p.Ile2157Val) |
single nucleotide variant |
ALPK2-related disorder [RCV003982130] |
Chr18:58481867 [GRCh38] Chr18:56149099 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2651C>T (p.Ser884Leu) |
single nucleotide variant |
ALPK2-related disorder [RCV003972082] |
Chr18:58537536 [GRCh38] Chr18:56204768 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.4723C>A (p.Pro1575Thr) |
single nucleotide variant |
not specified [RCV004522397] |
Chr18:58535464 [GRCh38] Chr18:56202696 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4730A>G (p.Lys1577Arg) |
single nucleotide variant |
not specified [RCV004522399] |
Chr18:58535457 [GRCh38] Chr18:56202689 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3372G>C (p.Glu1124Asp) |
single nucleotide variant |
not specified [RCV004522327] |
Chr18:58536815 [GRCh38] Chr18:56204047 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5007G>T (p.Leu1669=) |
single nucleotide variant |
not specified [RCV004522413] |
Chr18:58535180 [GRCh38] Chr18:56202412 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5259C>A (p.Ala1753=) |
single nucleotide variant |
not specified [RCV004522424] |
Chr18:58534928 [GRCh38] Chr18:56202160 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3318G>A (p.Leu1106=) |
single nucleotide variant |
not specified [RCV004522325] |
Chr18:58536869 [GRCh38] Chr18:56204101 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.318C>T (p.Cys106=) |
single nucleotide variant |
not specified [RCV004522318] |
Chr18:58580458 [GRCh38] Chr18:56247690 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3101G>T (p.Gly1034Val) |
single nucleotide variant |
not specified [RCV004522311] |
Chr18:58537086 [GRCh38] Chr18:56204318 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5584A>G (p.Asn1862Asp) |
single nucleotide variant |
not specified [RCV004522436] |
Chr18:58523980 [GRCh38] Chr18:56191212 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5722A>G (p.Ser1908Gly) |
single nucleotide variant |
not specified [RCV004522445] |
Chr18:58517126 [GRCh38] Chr18:56184358 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5801T>G (p.Phe1934Cys) |
single nucleotide variant |
not specified [RCV004522448] |
Chr18:58517047 [GRCh38] Chr18:56184279 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5865G>C (p.Lys1955Asn) |
single nucleotide variant |
not specified [RCV004522453] |
Chr18:58516983 [GRCh38] Chr18:56184215 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5995G>T (p.Ala1999Ser) |
single nucleotide variant |
not specified [RCV004522462] |
Chr18:58515027 [GRCh38] Chr18:56182259 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6034A>C (p.Ile2012Leu) |
single nucleotide variant |
not specified [RCV004522467] |
Chr18:58504144 [GRCh38] Chr18:56171376 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6224G>A (p.Cys2075Tyr) |
single nucleotide variant |
not specified [RCV004522478] |
Chr18:58503954 [GRCh38] Chr18:56171186 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6384G>C (p.Leu2128=) |
single nucleotide variant |
not specified [RCV004522486] |
Chr18:58481952 [GRCh38] Chr18:56149184 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.935C>G (p.Pro312Arg) |
single nucleotide variant |
not specified [RCV004522502] |
Chr18:58579841 [GRCh38] Chr18:56247073 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.495C>A (p.Pro165=) |
single nucleotide variant |
not specified [RCV004522410] |
Chr18:58580281 [GRCh38] Chr18:56247513 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5078C>G (p.Ala1693Gly) |
single nucleotide variant |
not specified [RCV004522416] |
Chr18:58535109 [GRCh38] Chr18:56202341 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5144C>A (p.Pro1715Gln) |
single nucleotide variant |
not specified [RCV004522420] |
Chr18:58535043 [GRCh38] Chr18:56202275 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5202G>A (p.Arg1734=) |
single nucleotide variant |
not specified [RCV004522421] |
Chr18:58534985 [GRCh38] Chr18:56202217 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5287A>G (p.Thr1763Ala) |
single nucleotide variant |
not specified [RCV004522425] |
Chr18:58534900 [GRCh38] Chr18:56202132 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5404G>A (p.Gly1802Arg) |
single nucleotide variant |
not specified [RCV004522430] |
Chr18:58529188 [GRCh38] Chr18:56196420 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3170T>G (p.Leu1057Trp) |
single nucleotide variant |
not specified [RCV004522317] |
Chr18:58537017 [GRCh38] Chr18:56204249 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3110A>T (p.Glu1037Val) |
single nucleotide variant |
not specified [RCV004522313] |
Chr18:58537077 [GRCh38] Chr18:56204309 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3070G>C (p.Ala1024Pro) |
single nucleotide variant |
not specified [RCV004522310] |
Chr18:58537117 [GRCh38] Chr18:56204349 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3062A>C (p.Lys1021Thr) |
single nucleotide variant |
not specified [RCV004522308] |
Chr18:58537125 [GRCh38] Chr18:56204357 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4740T>C (p.Tyr1580=) |
single nucleotide variant |
not specified [RCV004522402] |
Chr18:58535447 [GRCh38] Chr18:56202679 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5688C>G (p.Ser1896Arg) |
single nucleotide variant |
not specified [RCV004522440] |
Chr18:58517160 [GRCh38] Chr18:56184392 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5804G>T (p.Arg1935Leu) |
single nucleotide variant |
not specified [RCV004522449] |
Chr18:58517044 [GRCh38] Chr18:56184276 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.598G>A (p.Gly200Arg) |
single nucleotide variant |
not specified [RCV004522461] |
Chr18:58580178 [GRCh38] Chr18:56247410 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6021A>T (p.Glu2007Asp) |
single nucleotide variant |
not specified [RCV004522464] |
Chr18:58515001 [GRCh38] Chr18:56182233 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.603G>C (p.Glu201Asp) |
single nucleotide variant |
not specified [RCV004522468] |
Chr18:58580173 [GRCh38] Chr18:56247405 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6047T>C (p.Leu2016Pro) |
single nucleotide variant |
not specified [RCV004522470] |
Chr18:58504131 [GRCh38] Chr18:56171363 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6094G>A (p.Glu2032Lys) |
single nucleotide variant |
not specified [RCV004522471] |
Chr18:58504084 [GRCh38] Chr18:56171316 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6189C>T (p.Thr2063=) |
single nucleotide variant |
not specified [RCV004522476] |
Chr18:58503989 [GRCh38] Chr18:56171221 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6350C>T (p.Ala2117Val) |
single nucleotide variant |
not specified [RCV004522481] |
Chr18:58481986 [GRCh38] Chr18:56149218 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6380T>C (p.Met2127Thr) |
single nucleotide variant |
not specified [RCV004522485] |
Chr18:58481956 [GRCh38] Chr18:56149188 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6470T>A (p.Ile2157Lys) |
single nucleotide variant |
not specified [RCV004522492] |
Chr18:58481866 [GRCh38] Chr18:56149098 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.718T>C (p.Ser240Pro) |
single nucleotide variant |
not specified [RCV004522494] |
Chr18:58580058 [GRCh38] Chr18:56247290 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2912C>G (p.Thr971Ser) |
single nucleotide variant |
not specified [RCV004522300] |
Chr18:58537275 [GRCh38] Chr18:56204507 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2941A>G (p.Ile981Val) |
single nucleotide variant |
not specified [RCV004522303] |
Chr18:58537246 [GRCh38] Chr18:56204478 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.349C>G (p.Leu117Val) |
single nucleotide variant |
not specified [RCV004522332] |
Chr18:58580427 [GRCh38] Chr18:56247659 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3545G>C (p.Gly1182Ala) |
single nucleotide variant |
not specified [RCV004522335] |
Chr18:58536642 [GRCh38] Chr18:56203874 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3598G>C (p.Ala1200Pro) |
single nucleotide variant |
not specified [RCV004522336] |
Chr18:58536589 [GRCh38] Chr18:56203821 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3651C>T (p.Ile1217=) |
single nucleotide variant |
not specified [RCV004522338] |
Chr18:58536536 [GRCh38] Chr18:56203768 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3806C>A (p.Pro1269His) |
single nucleotide variant |
not specified [RCV004522341] |
Chr18:58536381 [GRCh38] Chr18:56203613 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.381T>G (p.His127Gln) |
single nucleotide variant |
not specified [RCV004522342] |
Chr18:58580395 [GRCh38] Chr18:56247627 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4029G>A (p.Val1343=) |
single nucleotide variant |
not specified [RCV004522354] |
Chr18:58536158 [GRCh38] Chr18:56203390 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4123G>A (p.Asp1375Asn) |
single nucleotide variant |
not specified [RCV004522356] |
Chr18:58536064 [GRCh38] Chr18:56203296 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4183T>C (p.Cys1395Arg) |
single nucleotide variant |
not specified [RCV004522361] |
Chr18:58536004 [GRCh38] Chr18:56203236 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4250C>T (p.Ala1417Val) |
single nucleotide variant |
not specified [RCV004522364] |
Chr18:58535937 [GRCh38] Chr18:56203169 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4614T>A (p.Thr1538=) |
single nucleotide variant |
not specified [RCV004522389] |
Chr18:58535573 [GRCh38] Chr18:56202805 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4648C>T (p.His1550Tyr) |
single nucleotide variant |
not specified [RCV004522392] |
Chr18:58535539 [GRCh38] Chr18:56202771 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4708A>C (p.Asn1570His) |
single nucleotide variant |
not specified [RCV004522396] |
Chr18:58535479 [GRCh38] Chr18:56202711 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.482C>A (p.Ala161Asp) |
single nucleotide variant |
not specified [RCV004522406] |
Chr18:58580294 [GRCh38] Chr18:56247526 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4887A>T (p.Glu1629Asp) |
single nucleotide variant |
not specified [RCV004522409] |
Chr18:58535300 [GRCh38] Chr18:56202532 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4983G>A (p.Glu1661=) |
single nucleotide variant |
not specified [RCV004522412] |
Chr18:58535204 [GRCh38] Chr18:56202436 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5037C>G (p.Gly1679=) |
single nucleotide variant |
not specified [RCV004522414] |
Chr18:58535150 [GRCh38] Chr18:56202382 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5051C>A (p.Ser1684Tyr) |
single nucleotide variant |
not specified [RCV004522415] |
Chr18:58535136 [GRCh38] Chr18:56202368 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5121G>A (p.Gly1707=) |
single nucleotide variant |
not specified [RCV004522419] |
Chr18:58535066 [GRCh38] Chr18:56202298 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3261G>T (p.Leu1087=) |
single nucleotide variant |
not specified [RCV004522319] |
Chr18:58536926 [GRCh38] Chr18:56204158 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5687G>T (p.Ser1896Ile) |
single nucleotide variant |
not specified [RCV004522439] |
Chr18:58517161 [GRCh38] Chr18:56184393 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5708A>T (p.Asp1903Val) |
single nucleotide variant |
not specified [RCV004522442] |
Chr18:58517140 [GRCh38] Chr18:56184372 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.979C>A (p.Leu327Met) |
single nucleotide variant |
not specified [RCV004522503] |
Chr18:58579797 [GRCh38] Chr18:56247029 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.984G>A (p.Glu328=) |
single nucleotide variant |
not specified [RCV004522505] |
Chr18:58579792 [GRCh38] Chr18:56247024 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4291A>G (p.Arg1431Gly) |
single nucleotide variant |
not specified [RCV004522367] |
Chr18:58535896 [GRCh38] Chr18:56203128 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.431A>G (p.Glu144Gly) |
single nucleotide variant |
not specified [RCV004522370] |
Chr18:58580345 [GRCh38] Chr18:56247577 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3390A>G (p.Gly1130=) |
single nucleotide variant |
not specified [RCV004522328] |
Chr18:58536797 [GRCh38] Chr18:56204029 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4374G>A (p.Gln1458=) |
single nucleotide variant |
not specified [RCV004522374] |
Chr18:58535813 [GRCh38] Chr18:56203045 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4428G>A (p.Lys1476=) |
single nucleotide variant |
not specified [RCV004522377] |
Chr18:58535759 [GRCh38] Chr18:56202991 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4466C>T (p.Thr1489Ile) |
single nucleotide variant |
not specified [RCV004522379] |
Chr18:58535721 [GRCh38] Chr18:56202953 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4479A>C (p.Gln1493His) |
single nucleotide variant |
not specified [RCV004522380] |
Chr18:58535708 [GRCh38] Chr18:56202940 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4531G>A (p.Gly1511Ser) |
single nucleotide variant |
not specified [RCV004522381] |
Chr18:58535656 [GRCh38] Chr18:56202888 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4574A>C (p.Glu1525Ala) |
single nucleotide variant |
not specified [RCV004522384] |
Chr18:58535613 [GRCh38] Chr18:56202845 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4579A>T (p.Ser1527Cys) |
single nucleotide variant |
not specified [RCV004522385] |
Chr18:58535608 [GRCh38] Chr18:56202840 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4600T>C (p.Leu1534=) |
single nucleotide variant |
not specified [RCV004522387] |
Chr18:58535587 [GRCh38] Chr18:56202819 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4619C>T (p.Pro1540Leu) |
single nucleotide variant |
not specified [RCV004522390] |
Chr18:58535568 [GRCh38] Chr18:56202800 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4637C>T (p.Pro1546Leu) |
single nucleotide variant |
not specified [RCV004522391] |
Chr18:58535550 [GRCh38] Chr18:56202782 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4725C>T (p.Pro1575=) |
single nucleotide variant |
not specified [RCV004522398] |
Chr18:58535462 [GRCh38] Chr18:56202694 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4732C>G (p.Arg1578Gly) |
single nucleotide variant |
not specified [RCV004522400] |
Chr18:58535455 [GRCh38] Chr18:56202687 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.473C>A (p.Pro158His) |
single nucleotide variant |
not specified [RCV004522401] |
Chr18:58580303 [GRCh38] Chr18:56247535 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4741G>C (p.Val1581Leu) |
single nucleotide variant |
not specified [RCV004522403] |
Chr18:58535446 [GRCh38] Chr18:56202678 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4846G>A (p.Gly1616Arg) |
single nucleotide variant |
not specified [RCV004522407] |
Chr18:58535341 [GRCh38] Chr18:56202573 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4860C>A (p.Asp1620Glu) |
single nucleotide variant |
not specified [RCV004522408] |
Chr18:58535327 [GRCh38] Chr18:56202559 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6045T>C (p.Phe2015=) |
single nucleotide variant |
not specified [RCV004522469] |
Chr18:58504133 [GRCh38] Chr18:56171365 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6314G>A (p.Gly2105Asp) |
single nucleotide variant |
not specified [RCV004522480] |
Chr18:58482022 [GRCh38] Chr18:56149254 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.820C>A (p.Leu274Ile) |
single nucleotide variant |
not specified [RCV004522495] |
Chr18:58579956 [GRCh38] Chr18:56247188 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.896T>C (p.Leu299Pro) |
single nucleotide variant |
not specified [RCV004522500] |
Chr18:58579880 [GRCh38] Chr18:56247112 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4973G>A (p.Gly1658Glu) |
single nucleotide variant |
not specified [RCV004522411] |
Chr18:58535214 [GRCh38] Chr18:56202446 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5103C>T (p.Thr1701=) |
single nucleotide variant |
not specified [RCV004522418] |
Chr18:58535084 [GRCh38] Chr18:56202316 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5207C>A (p.Ala1736Glu) |
single nucleotide variant |
not specified [RCV004522422] |
Chr18:58534980 [GRCh38] Chr18:56202212 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5308G>A (p.Glu1770Lys) |
single nucleotide variant |
not specified [RCV004522427] |
Chr18:58534879 [GRCh38] Chr18:56202111 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5426A>C (p.Gln1809Pro) |
single nucleotide variant |
not specified [RCV004522431] |
Chr18:58529166 [GRCh38] Chr18:56196398 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5447A>G (p.Asp1816Gly) |
single nucleotide variant |
not specified [RCV004522432] |
Chr18:58529145 [GRCh38] Chr18:56196377 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3364T>C (p.Tyr1122His) |
single nucleotide variant |
not specified [RCV004522326] |
Chr18:58536823 [GRCh38] Chr18:56204055 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3315C>A (p.Asn1105Lys) |
single nucleotide variant |
not specified [RCV004522324] |
Chr18:58536872 [GRCh38] Chr18:56204104 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3289A>G (p.Ser1097Gly) |
single nucleotide variant |
not specified [RCV004522323] |
Chr18:58536898 [GRCh38] Chr18:56204130 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3279G>A (p.Glu1093=) |
single nucleotide variant |
not specified [RCV004522322] |
Chr18:58536908 [GRCh38] Chr18:56204140 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3267C>T (p.Leu1089=) |
single nucleotide variant |
not specified [RCV004522320] |
Chr18:58536920 [GRCh38] Chr18:56204152 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3103G>A (p.Gly1035Ser) |
single nucleotide variant |
not specified [RCV004522312] |
Chr18:58537084 [GRCh38] Chr18:56204316 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1121G>A (p.Cys374Tyr) |
single nucleotide variant |
not specified [RCV004520241] |
Chr18:58579655 [GRCh38] Chr18:56246887 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1565G>A (p.Gly522Glu) |
single nucleotide variant |
not specified [RCV004520259] |
Chr18:58579211 [GRCh38] Chr18:56246443 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1785C>T (p.Ser595=) |
single nucleotide variant |
not specified [RCV004520271] |
Chr18:58578991 [GRCh38] Chr18:56246223 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1834G>A (p.Ala612Thr) |
single nucleotide variant |
not specified [RCV004520275] |
Chr18:58578942 [GRCh38] Chr18:56246174 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1929A>C (p.Thr643=) |
single nucleotide variant |
not specified [RCV004520278] |
Chr18:58578847 [GRCh38] Chr18:56246079 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2211A>G (p.Leu737=) |
single nucleotide variant |
not specified [RCV004522265] |
Chr18:58537976 [GRCh38] Chr18:56205208 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2305A>G (p.Arg769Gly) |
single nucleotide variant |
not specified [RCV004522267] |
Chr18:58537882 [GRCh38] Chr18:56205114 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2355C>G (p.Ala785=) |
single nucleotide variant |
not specified [RCV004522271] |
Chr18:58537832 [GRCh38] Chr18:56205064 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2679T>C (p.Thr893=) |
single nucleotide variant |
not specified [RCV004522280] |
Chr18:58537508 [GRCh38] Chr18:56204740 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2770A>G (p.Thr924Ala) |
single nucleotide variant |
not specified [RCV004522288] |
Chr18:58537417 [GRCh38] Chr18:56204649 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2817G>A (p.Gly939=) |
single nucleotide variant |
not specified [RCV004522294] |
Chr18:58537370 [GRCh38] Chr18:56204602 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2866T>C (p.Phe956Leu) |
single nucleotide variant |
not specified [RCV004522297] |
Chr18:58537321 [GRCh38] Chr18:56204553 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2877A>G (p.Gly959=) |
single nucleotide variant |
not specified [RCV004522298] |
Chr18:58537310 [GRCh38] Chr18:56204542 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3050T>A (p.Val1017Asp) |
single nucleotide variant |
not specified [RCV004522307] |
Chr18:58537137 [GRCh38] Chr18:56204369 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.304G>T (p.Val102Phe) |
single nucleotide variant |
not specified [RCV004522306] |
Chr18:58580472 [GRCh38] Chr18:56247704 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4368T>C (p.Cys1456=) |
single nucleotide variant |
not specified [RCV004522373] |
Chr18:58535819 [GRCh38] Chr18:56203051 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.556A>G (p.Ser186Gly) |
single nucleotide variant |
not specified [RCV004522435] |
Chr18:58580220 [GRCh38] Chr18:56247452 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5623G>A (p.Ala1875Thr) |
single nucleotide variant |
not specified [RCV004522437] |
Chr18:58523941 [GRCh38] Chr18:56191173 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5701A>G (p.Lys1901Glu) |
single nucleotide variant |
not specified [RCV004522441] |
Chr18:58517147 [GRCh38] Chr18:56184379 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5718T>C (p.His1906=) |
single nucleotide variant |
not specified [RCV004522444] |
Chr18:58517130 [GRCh38] Chr18:56184362 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5746G>C (p.Gly1916Arg) |
single nucleotide variant |
not specified [RCV004522447] |
Chr18:58517102 [GRCh38] Chr18:56184334 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5805C>T (p.Arg1935=) |
single nucleotide variant |
not specified [RCV004522450] |
Chr18:58517043 [GRCh38] Chr18:56184275 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5810C>T (p.Thr1937Ile) |
single nucleotide variant |
not specified [RCV004522451] |
Chr18:58517038 [GRCh38] Chr18:56184270 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5828T>C (p.Met1943Thr) |
single nucleotide variant |
not specified [RCV004522452] |
Chr18:58517020 [GRCh38] Chr18:56184252 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5869C>T (p.His1957Tyr) |
single nucleotide variant |
not specified [RCV004522454] |
Chr18:58516979 [GRCh38] Chr18:56184211 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.591G>A (p.Arg197=) |
single nucleotide variant |
not specified [RCV004522455] |
Chr18:58580185 [GRCh38] Chr18:56247417 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5924A>G (p.Tyr1975Cys) |
single nucleotide variant |
not specified [RCV004522456] |
Chr18:58516924 [GRCh38] Chr18:56184156 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5943A>G (p.Glu1981=) |
single nucleotide variant |
not specified [RCV004522458] |
Chr18:58515079 [GRCh38] Chr18:56182311 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6011G>T (p.Gly2004Val) |
single nucleotide variant |
not specified [RCV004522463] |
Chr18:58515011 [GRCh38] Chr18:56182243 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6027T>C (p.Pro2009=) |
single nucleotide variant |
not specified [RCV004522465] |
Chr18:58514995 [GRCh38] Chr18:56182227 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.602A>G (p.Glu201Gly) |
single nucleotide variant |
not specified [RCV004522466] |
Chr18:58580174 [GRCh38] Chr18:56247406 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6118T>C (p.Tyr2040His) |
single nucleotide variant |
not specified [RCV004522472] |
Chr18:58504060 [GRCh38] Chr18:56171292 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6127A>C (p.Arg2043=) |
single nucleotide variant |
not specified [RCV004522473] |
Chr18:58504051 [GRCh38] Chr18:56171283 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6153G>A (p.Leu2051=) |
single nucleotide variant |
not specified [RCV004522474] |
Chr18:58504025 [GRCh38] Chr18:56171257 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6158G>A (p.Arg2053Lys) |
single nucleotide variant |
not specified [RCV004522475] |
Chr18:58504020 [GRCh38] Chr18:56171252 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2057C>T (p.Thr686Ile) |
single nucleotide variant |
not specified [RCV004520291] |
Chr18:58538130 [GRCh38] Chr18:56205362 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2047T>C (p.Phe683Leu) |
single nucleotide variant |
not specified [RCV004520290] |
Chr18:58538140 [GRCh38] Chr18:56205372 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3537T>C (p.Ser1179=) |
single nucleotide variant |
not specified [RCV004522334] |
Chr18:58536650 [GRCh38] Chr18:56203882 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3603G>T (p.Gly1201=) |
single nucleotide variant |
not specified [RCV004522337] |
Chr18:58536584 [GRCh38] Chr18:56203816 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3879A>T (p.Ile1293=) |
single nucleotide variant |
not specified [RCV004522347] |
Chr18:58536308 [GRCh38] Chr18:56203540 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3949G>C (p.Glu1317Gln) |
single nucleotide variant |
not specified [RCV004522350] |
Chr18:58536238 [GRCh38] Chr18:56203470 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3973T>C (p.Trp1325Arg) |
single nucleotide variant |
not specified [RCV004522352] |
Chr18:58536214 [GRCh38] Chr18:56203446 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4066T>A (p.Ser1356Thr) |
single nucleotide variant |
not specified [RCV004522355] |
Chr18:58536121 [GRCh38] Chr18:56203353 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4216A>T (p.Ile1406Phe) |
single nucleotide variant |
not specified [RCV004522362] |
Chr18:58535971 [GRCh38] Chr18:56203203 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4244C>T (p.Thr1415Ile) |
single nucleotide variant |
not specified [RCV004522363] |
Chr18:58535943 [GRCh38] Chr18:56203175 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4260A>G (p.Pro1420=) |
single nucleotide variant |
not specified [RCV004522366] |
Chr18:58535927 [GRCh38] Chr18:56203159 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4300G>C (p.Gly1434Arg) |
single nucleotide variant |
not specified [RCV004522369] |
Chr18:58535887 [GRCh38] Chr18:56203119 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4359A>C (p.Gln1453His) |
single nucleotide variant |
not specified [RCV004522372] |
Chr18:58535828 [GRCh38] Chr18:56203060 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4413A>G (p.Gln1471=) |
single nucleotide variant |
not specified [RCV004522376] |
Chr18:58535774 [GRCh38] Chr18:56203006 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4437T>C (p.Ala1479=) |
single nucleotide variant |
not specified [RCV004522378] |
Chr18:58535750 [GRCh38] Chr18:56202982 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4549A>G (p.Ser1517Gly) |
single nucleotide variant |
not specified [RCV004522383] |
Chr18:58535638 [GRCh38] Chr18:56202870 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6204G>A (p.Val2068=) |
single nucleotide variant |
not specified [RCV004522477] |
Chr18:58503974 [GRCh38] Chr18:56171206 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6248G>A (p.Gly2083Asp) |
single nucleotide variant |
not specified [RCV004522479] |
Chr18:58498097 [GRCh38] Chr18:56165329 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6364A>G (p.Asn2122Asp) |
single nucleotide variant |
not specified [RCV004522483] |
Chr18:58481972 [GRCh38] Chr18:56149204 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6407A>G (p.Asn2136Ser) |
single nucleotide variant |
not specified [RCV004522489] |
Chr18:58481929 [GRCh38] Chr18:56149161 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.695A>G (p.His232Arg) |
single nucleotide variant |
not specified [RCV004522493] |
Chr18:58580081 [GRCh38] Chr18:56247313 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.840T>A (p.Thr280=) |
single nucleotide variant |
not specified [RCV004522496] |
Chr18:58579936 [GRCh38] Chr18:56247168 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.854C>A (p.Pro285Gln) |
single nucleotide variant |
not specified [RCV004522498] |
Chr18:58579922 [GRCh38] Chr18:56247154 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.924T>C (p.Tyr308=) |
single nucleotide variant |
not specified [RCV004522501] |
Chr18:58579852 [GRCh38] Chr18:56247084 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4664T>C (p.Val1555Ala) |
single nucleotide variant |
not specified [RCV004522393] |
Chr18:58535523 [GRCh38] Chr18:56202755 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4671G>C (p.Thr1557=) |
single nucleotide variant |
not specified [RCV004522394] |
Chr18:58535516 [GRCh38] Chr18:56202748 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.467G>A (p.Gly156Asp) |
single nucleotide variant |
not specified [RCV004522395] |
Chr18:58580309 [GRCh38] Chr18:56247541 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4755A>T (p.Ser1585=) |
single nucleotide variant |
not specified [RCV004522404] |
Chr18:58535432 [GRCh38] Chr18:56202664 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4778A>G (p.Asn1593Ser) |
single nucleotide variant |
not specified [RCV004522405] |
Chr18:58535409 [GRCh38] Chr18:56202641 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.507C>A (p.Asn169Lys) |
single nucleotide variant |
not specified [RCV004522417] |
Chr18:58580269 [GRCh38] Chr18:56247501 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5301C>T (p.His1767=) |
single nucleotide variant |
not specified [RCV004522426] |
Chr18:58534886 [GRCh38] Chr18:56202118 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5359G>C (p.Val1787Leu) |
single nucleotide variant |
not specified [RCV004522428] |
Chr18:58529233 [GRCh38] Chr18:56196465 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5395G>A (p.Glu1799Lys) |
single nucleotide variant |
not specified [RCV004522429] |
Chr18:58529197 [GRCh38] Chr18:56196429 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5510A>G (p.Asp1837Gly) |
single nucleotide variant |
not specified [RCV004522433] |
Chr18:58524054 [GRCh38] Chr18:56191286 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5542G>A (p.Ala1848Thr) |
single nucleotide variant |
not specified [RCV004522434] |
Chr18:58524022 [GRCh38] Chr18:56191254 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.326A>C (p.Glu109Ala) |
single nucleotide variant |
not specified [RCV004522321] |
Chr18:58580450 [GRCh38] Chr18:56247682 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3136G>C (p.Glu1046Gln) |
single nucleotide variant |
not specified [RCV004522316] |
Chr18:58537051 [GRCh38] Chr18:56204283 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2932T>C (p.Tyr978His) |
single nucleotide variant |
ALPK2-related disorder [RCV003979090] |
Chr18:58537255 [GRCh38] Chr18:56204487 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.3131C>A (p.Ser1044Tyr) |
single nucleotide variant |
not specified [RCV004522315] |
Chr18:58537056 [GRCh38] Chr18:56204288 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3112G>A (p.Glu1038Lys) |
single nucleotide variant |
not specified [RCV004522314] |
Chr18:58537075 [GRCh38] Chr18:56204307 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3067C>G (p.Leu1023Val) |
single nucleotide variant |
not specified [RCV004522309] |
Chr18:58537120 [GRCh38] Chr18:56204352 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3918C>T (p.Ala1306=) |
single nucleotide variant |
not specified [RCV004522348] |
Chr18:58536269 [GRCh38] Chr18:56203501 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5646A>G (p.Ser1882=) |
single nucleotide variant |
not specified [RCV004522438] |
Chr18:58523825 [GRCh38] Chr18:56191057 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5713C>T (p.Leu1905Phe) |
single nucleotide variant |
not specified [RCV004522443] |
Chr18:58517135 [GRCh38] Chr18:56184367 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5734G>A (p.Gly1912Ser) |
single nucleotide variant |
not specified [RCV004522446] |
Chr18:58517114 [GRCh38] Chr18:56184346 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5930T>C (p.Leu1977Pro) |
single nucleotide variant |
not specified [RCV004522457] |
Chr18:58516918 [GRCh38] Chr18:56184150 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5972A>G (p.Tyr1991Cys) |
single nucleotide variant |
not specified [RCV004522459] |
Chr18:58515050 [GRCh38] Chr18:56182282 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.597T>C (p.Thr199=) |
single nucleotide variant |
not specified [RCV004522460] |
Chr18:58580179 [GRCh38] Chr18:56247411 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6368A>G (p.Lys2123Arg) |
single nucleotide variant |
not specified [RCV004522484] |
Chr18:58481968 [GRCh38] Chr18:56149200 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6387A>T (p.Gly2129=) |
single nucleotide variant |
not specified [RCV004522487] |
Chr18:58481949 [GRCh38] Chr18:56149181 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6389T>C (p.Leu2130Pro) |
single nucleotide variant |
not specified [RCV004522488] |
Chr18:58481947 [GRCh38] Chr18:56149179 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6460T>C (p.Ser2154Pro) |
single nucleotide variant |
not specified [RCV004522490] |
Chr18:58481876 [GRCh38] Chr18:56149108 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6465G>A (p.Met2155Ile) |
single nucleotide variant |
not specified [RCV004522491] |
Chr18:58481871 [GRCh38] Chr18:56149103 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5501+7T>C |
single nucleotide variant |
ALPK2-related disorder [RCV003943834] |
Chr18:58529084 [GRCh38] Chr18:56196316 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.853C>T (p.Pro285Ser) |
single nucleotide variant |
not specified [RCV004522497] |
Chr18:58579923 [GRCh38] Chr18:56247155 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.865G>A (p.Ala289Thr) |
single nucleotide variant |
not specified [RCV004522499] |
Chr18:58579911 [GRCh38] Chr18:56247143 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.982G>A (p.Glu328Lys) |
single nucleotide variant |
not specified [RCV004522504] |
Chr18:58579794 [GRCh38] Chr18:56247026 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2474G>C (p.Arg825Thr) |
single nucleotide variant |
ALPK2-related disorder [RCV003979548] |
Chr18:58537713 [GRCh38] Chr18:56204945 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.3188G>T (p.Gly1063Val) |
single nucleotide variant |
ALPK2-related disorder [RCV003909343] |
Chr18:58536999 [GRCh38] Chr18:56204231 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.3169T>G (p.Leu1057Val) |
single nucleotide variant |
ALPK2-related disorder [RCV003967392] |
Chr18:58537018 [GRCh38] Chr18:56204250 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2344A>G (p.Thr782Ala) |
single nucleotide variant |
not specified [RCV004522270] |
Chr18:58537843 [GRCh38] Chr18:56205075 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.254A>G (p.Tyr85Cys) |
single nucleotide variant |
not specified [RCV004522274] |
Chr18:58580522 [GRCh38] Chr18:56247754 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2606C>G (p.Ser869Cys) |
single nucleotide variant |
not specified [RCV004522278] |
Chr18:58537581 [GRCh38] Chr18:56204813 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2687T>G (p.Leu896Trp) |
single nucleotide variant |
not specified [RCV004522282] |
Chr18:58537500 [GRCh38] Chr18:56204732 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2866T>A (p.Phe956Ile) |
single nucleotide variant |
not specified [RCV004522296] |
Chr18:58537321 [GRCh38] Chr18:56204553 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2956T>G (p.Trp986Gly) |
single nucleotide variant |
not specified [RCV004522305] |
Chr18:58537231 [GRCh38] Chr18:56204463 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3842C>T (p.Ala1281Val) |
single nucleotide variant |
not specified [RCV004522343] |
Chr18:58536345 [GRCh38] Chr18:56203577 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3855G>A (p.Val1285=) |
single nucleotide variant |
not specified [RCV004522344] |
Chr18:58536332 [GRCh38] Chr18:56203564 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3417G>A (p.Gln1139=) |
single nucleotide variant |
not specified [RCV004522329] |
Chr18:58536770 [GRCh38] Chr18:56204002 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.414T>A (p.Asn138Lys) |
single nucleotide variant |
not specified [RCV004522357] |
Chr18:58580362 [GRCh38] Chr18:56247594 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4259C>G (p.Pro1420Arg) |
single nucleotide variant |
not specified [RCV004522365] |
Chr18:58535928 [GRCh38] Chr18:56203160 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4294G>C (p.Glu1432Gln) |
single nucleotide variant |
not specified [RCV004522368] |
Chr18:58535893 [GRCh38] Chr18:56203125 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4391A>C (p.Glu1464Ala) |
single nucleotide variant |
not specified [RCV004522375] |
Chr18:58535796 [GRCh38] Chr18:56203028 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4602G>T (p.Leu1534Phe) |
single nucleotide variant |
not specified [RCV004522388] |
Chr18:58535585 [GRCh38] Chr18:56202817 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.256C>G (p.Gln86Glu) |
single nucleotide variant |
not specified [RCV004522275] |
Chr18:58580520 [GRCh38] Chr18:56247752 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2576C>T (p.Thr859Ile) |
single nucleotide variant |
not specified [RCV004522277] |
Chr18:58537611 [GRCh38] Chr18:56204843 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2681T>C (p.Phe894Ser) |
single nucleotide variant |
not specified [RCV004522281] |
Chr18:58537506 [GRCh38] Chr18:56204738 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.273C>T (p.Asn91=) |
single nucleotide variant |
not specified [RCV004522285] |
Chr18:58580503 [GRCh38] Chr18:56247735 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2802C>A (p.Pro934=) |
single nucleotide variant |
not specified [RCV004522292] |
Chr18:58537385 [GRCh38] Chr18:56204617 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3693G>C (p.Glu1231Asp) |
single nucleotide variant |
not specified [RCV004522339] |
Chr18:58536494 [GRCh38] Chr18:56203726 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3868C>A (p.Pro1290Thr) |
single nucleotide variant |
not specified [RCV004522345] |
Chr18:58536319 [GRCh38] Chr18:56203551 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.386C>T (p.Thr129Ile) |
single nucleotide variant |
not specified [RCV004522346] |
Chr18:58580390 [GRCh38] Chr18:56247622 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3931A>G (p.Arg1311Gly) |
single nucleotide variant |
not specified [RCV004522349] |
Chr18:58536256 [GRCh38] Chr18:56203488 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3998T>A (p.Phe1333Tyr) |
single nucleotide variant |
not specified [RCV004522353] |
Chr18:58536189 [GRCh38] Chr18:56203421 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4159G>A (p.Ala1387Thr) |
single nucleotide variant |
not specified [RCV004522358] |
Chr18:58536028 [GRCh38] Chr18:56203260 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4163T>C (p.Phe1388Ser) |
single nucleotide variant |
not specified [RCV004522359] |
Chr18:58536024 [GRCh38] Chr18:56203256 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4536A>G (p.Gln1512=) |
single nucleotide variant |
not specified [RCV004522382] |
Chr18:58535651 [GRCh38] Chr18:56202883 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.458T>C (p.Ile153Thr) |
single nucleotide variant |
not specified [RCV004522386] |
Chr18:58580318 [GRCh38] Chr18:56247550 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5629+9_5629+10del |
microsatellite |
ALPK2-related disorder [RCV003911414] |
Chr18:58523925..58523926 [GRCh38] Chr18:56191157..56191158 [GRCh37] Chr18:18q21.31 |
benign |
NM_052947.4(ALPK2):c.2281C>T (p.Pro761Ser) |
single nucleotide variant |
not specified [RCV004522266] |
Chr18:58537906 [GRCh38] Chr18:56205138 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2421T>G (p.Phe807Leu) |
single nucleotide variant |
not specified [RCV004522272] |
Chr18:58537766 [GRCh38] Chr18:56204998 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2545G>T (p.Val849Leu) |
single nucleotide variant |
not specified [RCV004522273] |
Chr18:58537642 [GRCh38] Chr18:56204874 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2576C>G (p.Thr859Arg) |
single nucleotide variant |
not specified [RCV004522276] |
Chr18:58537611 [GRCh38] Chr18:56204843 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2620T>A (p.Ser874Thr) |
single nucleotide variant |
not specified [RCV004522279] |
Chr18:58537567 [GRCh38] Chr18:56204799 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2698C>T (p.His900Tyr) |
single nucleotide variant |
not specified [RCV004522283] |
Chr18:58537489 [GRCh38] Chr18:56204721 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2702C>G (p.Thr901Arg) |
single nucleotide variant |
not specified [RCV004522284] |
Chr18:58537485 [GRCh38] Chr18:56204717 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2750C>T (p.Ser917Phe) |
single nucleotide variant |
not specified [RCV004522287] |
Chr18:58537437 [GRCh38] Chr18:56204669 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2781T>C (p.Ala927=) |
single nucleotide variant |
not specified [RCV004522289] |
Chr18:58537406 [GRCh38] Chr18:56204638 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2784C>T (p.Gly928=) |
single nucleotide variant |
not specified [RCV004522290] |
Chr18:58537403 [GRCh38] Chr18:56204635 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2789A>G (p.Glu930Gly) |
single nucleotide variant |
not specified [RCV004522291] |
Chr18:58537398 [GRCh38] Chr18:56204630 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2861T>A (p.Val954Glu) |
single nucleotide variant |
not specified [RCV004522295] |
Chr18:58537326 [GRCh38] Chr18:56204558 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2886G>T (p.Lys962Asn) |
single nucleotide variant |
not specified [RCV004522299] |
Chr18:58537301 [GRCh38] Chr18:56204533 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2311C>A (p.Pro771Thr) |
single nucleotide variant |
not specified [RCV004522268] |
Chr18:58537876 [GRCh38] Chr18:56205108 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2314G>A (p.Val772Met) |
single nucleotide variant |
not specified [RCV004522269] |
Chr18:58537873 [GRCh38] Chr18:56205105 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2740G>A (p.Val914Met) |
single nucleotide variant |
not specified [RCV004522286] |
Chr18:58537447 [GRCh38] Chr18:56204679 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2814A>G (p.Gly938=) |
single nucleotide variant |
not specified [RCV004522293] |
Chr18:58537373 [GRCh38] Chr18:56204605 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2929A>C (p.Ser977Arg) |
single nucleotide variant |
not specified [RCV004522301] |
Chr18:58537258 [GRCh38] Chr18:56204490 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.293G>T (p.Cys98Phe) |
single nucleotide variant |
not specified [RCV004522302] |
Chr18:58580483 [GRCh38] Chr18:56247715 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3447T>C (p.Ser1149=) |
single nucleotide variant |
not specified [RCV004522330] |
Chr18:58536740 [GRCh38] Chr18:56203972 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3527C>T (p.Pro1176Leu) |
single nucleotide variant |
not specified [RCV004522333] |
Chr18:58536660 [GRCh38] Chr18:56203892 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3706C>G (p.Leu1236Val) |
single nucleotide variant |
not specified [RCV004522340] |
Chr18:58536481 [GRCh38] Chr18:56203713 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3963C>T (p.Ile1321=) |
single nucleotide variant |
not specified [RCV004522351] |
Chr18:58536224 [GRCh38] Chr18:56203456 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4178T>A (p.Leu1393Gln) |
single nucleotide variant |
not specified [RCV004522360] |
Chr18:58536009 [GRCh38] Chr18:56203241 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4343A>C (p.Gln1448Pro) |
single nucleotide variant |
not specified [RCV004522371] |
Chr18:58535844 [GRCh38] Chr18:56203076 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.464C>T (p.Pro155Leu) |
single nucleotide variant |
not specified [RCV004408851] |
Chr18:58580312 [GRCh38] Chr18:56247544 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4689A>C (p.Gln1563His) |
single nucleotide variant |
not specified [RCV004408856] |
Chr18:58535498 [GRCh38] Chr18:56202730 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3370G>C (p.Glu1124Gln) |
single nucleotide variant |
not specified [RCV004398896] |
Chr18:58536817 [GRCh38] Chr18:56204049 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.738C>A (p.Asp246Glu) |
single nucleotide variant |
not specified [RCV004408923] |
Chr18:58580038 [GRCh38] Chr18:56247270 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6330C>A (p.Thr2110=) |
single nucleotide variant |
not specified [RCV004633874] |
Chr18:58482006 [GRCh38] Chr18:56149238 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2094C>T (p.His698=) |
single nucleotide variant |
not specified [RCV004633921] |
Chr18:58538093 [GRCh38] Chr18:56205325 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4148T>C (p.Met1383Thr) |
single nucleotide variant |
not specified [RCV004633960] |
Chr18:58536039 [GRCh38] Chr18:56203271 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6394T>G (p.Ser2132Ala) |
single nucleotide variant |
not specified [RCV004633985] |
Chr18:58481942 [GRCh38] Chr18:56149174 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5231A>T (p.Glu1744Val) |
single nucleotide variant |
not specified [RCV004634037] |
Chr18:58534956 [GRCh38] Chr18:56202188 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5933C>T (p.Ala1978Val) |
single nucleotide variant |
not specified [RCV004408900] |
Chr18:58516915 [GRCh38] Chr18:56184147 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2714G>C (p.Gly905Ala) |
single nucleotide variant |
not specified [RCV004398876] |
Chr18:58537473 [GRCh38] Chr18:56204705 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2883C>A (p.Asp961Glu) |
single nucleotide variant |
not specified [RCV004398877] |
Chr18:58537304 [GRCh38] Chr18:56204536 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3586G>A (p.Val1196Met) |
single nucleotide variant |
not specified [RCV004398910] |
Chr18:58536601 [GRCh38] Chr18:56203833 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4588G>C (p.Asp1530His) |
single nucleotide variant |
not specified [RCV004640087] |
Chr18:58535599 [GRCh38] Chr18:56202831 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3683G>A (p.Gly1228Glu) |
single nucleotide variant |
not specified [RCV004642231] |
Chr18:58536504 [GRCh38] Chr18:56203736 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1480A>G (p.Thr494Ala) |
single nucleotide variant |
not specified [RCV004642511] |
Chr18:58579296 [GRCh38] Chr18:56246528 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5998C>A (p.Gln2000Lys) |
single nucleotide variant |
not specified [RCV004642543] |
Chr18:58515024 [GRCh38] Chr18:56182256 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2673C>A (p.Thr891=) |
single nucleotide variant |
not specified [RCV004642560] |
Chr18:58537514 [GRCh38] Chr18:56204746 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5108C>T (p.Thr1703Ile) |
single nucleotide variant |
not specified [RCV004642587] |
Chr18:58535079 [GRCh38] Chr18:56202311 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4792C>G (p.Pro1598Ala) |
single nucleotide variant |
not specified [RCV004633816] |
Chr18:58535395 [GRCh38] Chr18:56202627 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.50C>T (p.Thr17Ile) |
single nucleotide variant |
not specified [RCV004633870] |
Chr18:58611748 [GRCh38] Chr18:56278980 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1795G>T (p.Ala599Ser) |
single nucleotide variant |
not specified [RCV004633886] |
Chr18:58578981 [GRCh38] Chr18:56246213 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2865A>G (p.Gln955=) |
single nucleotide variant |
not specified [RCV004634003] |
Chr18:58537322 [GRCh38] Chr18:56204554 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.723G>A (p.Lys241=) |
single nucleotide variant |
not specified [RCV004637104] |
Chr18:58580053 [GRCh38] Chr18:56247285 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3958A>C (p.Thr1320Pro) |
single nucleotide variant |
not specified [RCV004637154] |
Chr18:58536229 [GRCh38] Chr18:56203461 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2876G>C (p.Gly959Ala) |
single nucleotide variant |
not specified [RCV004642279] |
Chr18:58537311 [GRCh38] Chr18:56204543 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4011A>G (p.Arg1337=) |
single nucleotide variant |
not specified [RCV004642391] |
Chr18:58536176 [GRCh38] Chr18:56203408 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3178A>G (p.Ile1060Val) |
single nucleotide variant |
not specified [RCV004642398] |
Chr18:58537009 [GRCh38] Chr18:56204241 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3025T>A (p.Ser1009Thr) |
single nucleotide variant |
not specified [RCV004644355] |
Chr18:58537162 [GRCh38] Chr18:56204394 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2356C>A (p.Leu786Ile) |
single nucleotide variant |
not specified [RCV004644492] |
Chr18:58537831 [GRCh38] Chr18:56205063 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2992T>C (p.Cys998Arg) |
single nucleotide variant |
not specified [RCV004642421] |
Chr18:58537195 [GRCh38] Chr18:56204427 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1671A>C (p.Thr557=) |
single nucleotide variant |
not specified [RCV004639817] |
Chr18:58579105 [GRCh38] Chr18:56246337 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3107C>T (p.Thr1036Ile) |
single nucleotide variant |
not specified [RCV004639832] |
Chr18:58537080 [GRCh38] Chr18:56204312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1159G>T (p.Val387Leu) |
single nucleotide variant |
not specified [RCV004639877] |
Chr18:58579617 [GRCh38] Chr18:56246849 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5230G>C (p.Glu1744Gln) |
single nucleotide variant |
not specified [RCV004639898] |
Chr18:58534957 [GRCh38] Chr18:56202189 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5784G>A (p.Gly1928=) |
single nucleotide variant |
not specified [RCV004640056] |
Chr18:58517064 [GRCh38] Chr18:56184296 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4720G>A (p.Glu1574Lys) |
single nucleotide variant |
not specified [RCV004633784] |
Chr18:58535467 [GRCh38] Chr18:56202699 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3242G>A (p.Gly1081Glu) |
single nucleotide variant |
not specified [RCV004633897] |
Chr18:58536945 [GRCh38] Chr18:56204177 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2538A>G (p.Gln846=) |
single nucleotide variant |
not specified [RCV004633946] |
Chr18:58537649 [GRCh38] Chr18:56204881 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3002C>A (p.Ala1001Glu) |
single nucleotide variant |
not specified [RCV004644267] |
Chr18:58537185 [GRCh38] Chr18:56204417 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5756C>A (p.Ala1919Asp) |
single nucleotide variant |
not specified [RCV004639768] |
Chr18:58517092 [GRCh38] Chr18:56184324 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3600T>C (p.Ala1200=) |
single nucleotide variant |
not specified [RCV004639796] |
Chr18:58536587 [GRCh38] Chr18:56203819 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2056A>G (p.Thr686Ala) |
single nucleotide variant |
not specified [RCV004637087] |
Chr18:58538131 [GRCh38] Chr18:56205363 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4674C>A (p.His1558Gln) |
single nucleotide variant |
not specified [RCV004639824] |
Chr18:58535513 [GRCh38] Chr18:56202745 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3893A>G (p.His1298Arg) |
single nucleotide variant |
not specified [RCV004639927] |
Chr18:58536294 [GRCh38] Chr18:56203526 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5081G>T (p.Arg1694Leu) |
single nucleotide variant |
not specified [RCV004639966] |
Chr18:58535106 [GRCh38] Chr18:56202338 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1755C>T (p.His585=) |
single nucleotide variant |
not specified [RCV004636988] |
Chr18:58579021 [GRCh38] Chr18:56246253 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2924C>A (p.Pro975Gln) |
single nucleotide variant |
not specified [RCV004637047] |
Chr18:58537263 [GRCh38] Chr18:56204495 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.393A>T (p.Thr131=) |
single nucleotide variant |
not specified [RCV004637119] |
Chr18:58580383 [GRCh38] Chr18:56247615 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5359G>A (p.Val1787Ile) |
single nucleotide variant |
not specified [RCV004639752] |
Chr18:58529233 [GRCh38] Chr18:56196465 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1775G>T (p.Gly592Val) |
single nucleotide variant |
not specified [RCV004637182] |
Chr18:58579001 [GRCh38] Chr18:56246233 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.130A>T (p.Thr44Ser) |
single nucleotide variant |
not specified [RCV004637235] |
Chr18:58607419 [GRCh38] Chr18:56274651 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4900G>T (p.Val1634Leu) |
single nucleotide variant |
not specified [RCV004637241] |
Chr18:58535287 [GRCh38] Chr18:56202519 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6238G>A (p.Asp2080Asn) |
single nucleotide variant |
not specified [RCV004639784] |
Chr18:58503940 [GRCh38] Chr18:56171172 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.239A>G (p.Asn80Ser) |
single nucleotide variant |
not specified [RCV004639790] |
Chr18:58580537 [GRCh38] Chr18:56247769 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3530C>G (p.Ala1177Gly) |
single nucleotide variant |
not specified [RCV004639839] |
Chr18:58536657 [GRCh38] Chr18:56203889 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2237C>T (p.Ala746Val) |
single nucleotide variant |
not specified [RCV004642127] |
Chr18:58537950 [GRCh38] Chr18:56205182 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6482G>A (p.Gly2161Glu) |
single nucleotide variant |
not specified [RCV004642182] |
Chr18:58481854 [GRCh38] Chr18:56149086 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2474G>T (p.Arg825Ile) |
single nucleotide variant |
not specified [RCV004639852] |
Chr18:58537713 [GRCh38] Chr18:56204945 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2225G>A (p.Ser742Asn) |
single nucleotide variant |
not specified [RCV004639855] |
Chr18:58537962 [GRCh38] Chr18:56205194 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.74A>G (p.Glu25Gly) |
single nucleotide variant |
not specified [RCV004639900] |
Chr18:58611724 [GRCh38] Chr18:56278956 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4214C>G (p.Pro1405Arg) |
single nucleotide variant |
not specified [RCV004639901] |
Chr18:58535973 [GRCh38] Chr18:56203205 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2585T>C (p.Val862Ala) |
single nucleotide variant |
not specified [RCV004639903] |
Chr18:58537602 [GRCh38] Chr18:56204834 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5782G>T (p.Gly1928Trp) |
single nucleotide variant |
not specified [RCV004639928] |
Chr18:58517066 [GRCh38] Chr18:56184298 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1792G>A (p.Asp598Asn) |
single nucleotide variant |
not specified [RCV004639930] |
Chr18:58578984 [GRCh38] Chr18:56246216 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3844G>A (p.Asp1282Asn) |
single nucleotide variant |
not specified [RCV004642245] |
Chr18:58536343 [GRCh38] Chr18:56203575 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6361T>C (p.Cys2121Arg) |
single nucleotide variant |
not specified [RCV004642247] |
Chr18:58481975 [GRCh38] Chr18:56149207 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.612T>A (p.Asp204Glu) |
single nucleotide variant |
not specified [RCV004642254] |
Chr18:58580164 [GRCh38] Chr18:56247396 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3167A>T (p.Gln1056Leu) |
single nucleotide variant |
not specified [RCV004642277] |
Chr18:58537020 [GRCh38] Chr18:56204252 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6128G>C (p.Arg2043Thr) |
single nucleotide variant |
not specified [RCV004642303] |
Chr18:58504050 [GRCh38] Chr18:56171282 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6187A>G (p.Thr2063Ala) |
single nucleotide variant |
not specified [RCV004642311] |
Chr18:58503991 [GRCh38] Chr18:56171223 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6497G>A (p.Gly2166Asp) |
single nucleotide variant |
not specified [RCV004631273] |
Chr18:58481839 [GRCh38] Chr18:56149071 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5711T>C (p.Phe1904Ser) |
single nucleotide variant |
not specified [RCV004639962] |
Chr18:58517137 [GRCh38] Chr18:56184369 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4459G>A (p.Ala1487Thr) |
single nucleotide variant |
not specified [RCV004639972] |
Chr18:58535728 [GRCh38] Chr18:56202960 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5706A>T (p.Glu1902Asp) |
single nucleotide variant |
not specified [RCV004640001] |
Chr18:58517142 [GRCh38] Chr18:56184374 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.106T>A (p.Ser36Thr) |
single nucleotide variant |
not specified [RCV004640012] |
Chr18:58611692 [GRCh38] Chr18:56278924 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2384C>A (p.Pro795Gln) |
single nucleotide variant |
not specified [RCV004640019] |
Chr18:58537803 [GRCh38] Chr18:56205035 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3606A>T (p.Glu1202Asp) |
single nucleotide variant |
not specified [RCV004640025] |
Chr18:58536581 [GRCh38] Chr18:56203813 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1110C>G (p.Cys370Trp) |
single nucleotide variant |
not specified [RCV004642319] |
Chr18:58579666 [GRCh38] Chr18:56246898 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3306G>A (p.Gln1102=) |
single nucleotide variant |
not specified [RCV004642412] |
Chr18:58536881 [GRCh38] Chr18:56204113 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1159G>A (p.Val387Met) |
single nucleotide variant |
not specified [RCV004644262] |
Chr18:58579617 [GRCh38] Chr18:56246849 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1068A>G (p.Leu356=) |
single nucleotide variant |
not specified [RCV004633815] |
Chr18:58579708 [GRCh38] Chr18:56246940 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1135A>T (p.Ser379Cys) |
single nucleotide variant |
not specified [RCV004642472] |
Chr18:58579641 [GRCh38] Chr18:56246873 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1473A>G (p.Val491=) |
single nucleotide variant |
not specified [RCV004642494] |
Chr18:58579303 [GRCh38] Chr18:56246535 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1276C>A (p.Gln426Lys) |
single nucleotide variant |
not specified [RCV004642502] |
Chr18:58579500 [GRCh38] Chr18:56246732 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5415A>G (p.Lys1805=) |
single nucleotide variant |
not specified [RCV004644323] |
Chr18:58529177 [GRCh38] Chr18:56196409 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4133A>G (p.Glu1378Gly) |
single nucleotide variant |
not specified [RCV004644374] |
Chr18:58536054 [GRCh38] Chr18:56203286 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.97T>C (p.Cys33Arg) |
single nucleotide variant |
not specified [RCV004644413] |
Chr18:58611701 [GRCh38] Chr18:56278933 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1915A>T (p.Thr639Ser) |
single nucleotide variant |
not specified [RCV004631471] |
Chr18:58578861 [GRCh38] Chr18:56246093 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3003G>A (p.Ala1001=) |
single nucleotide variant |
not specified [RCV004631559] |
Chr18:58537184 [GRCh38] Chr18:56204416 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1523T>C (p.Met508Thr) |
single nucleotide variant |
not specified [RCV004631585] |
Chr18:58579253 [GRCh38] Chr18:56246485 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1112T>C (p.Leu371Pro) |
single nucleotide variant |
not specified [RCV004633905] |
Chr18:58579664 [GRCh38] Chr18:56246896 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3906T>A (p.Asp1302Glu) |
single nucleotide variant |
not specified [RCV004633909] |
Chr18:58536281 [GRCh38] Chr18:56203513 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3254A>G (p.His1085Arg) |
single nucleotide variant |
not specified [RCV004633915] |
Chr18:58536933 [GRCh38] Chr18:56204165 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4442A>T (p.Gln1481Leu) |
single nucleotide variant |
not specified [RCV004633943] |
Chr18:58535745 [GRCh38] Chr18:56202977 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2195A>G (p.Asn732Ser) |
single nucleotide variant |
not specified [RCV004633952] |
Chr18:58537992 [GRCh38] Chr18:56205224 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5613T>C (p.Phe1871=) |
single nucleotide variant |
not specified [RCV004633956] |
Chr18:58523951 [GRCh38] Chr18:56191183 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5689C>A (p.Gln1897Lys) |
single nucleotide variant |
not specified [RCV004633795] |
Chr18:58517159 [GRCh38] Chr18:56184391 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.389G>A (p.Gly130Glu) |
single nucleotide variant |
not specified [RCV004642577] |
Chr18:58580387 [GRCh38] Chr18:56247619 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2364G>C (p.Leu788=) |
single nucleotide variant |
not specified [RCV004642583] |
Chr18:58537823 [GRCh38] Chr18:56205055 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3779A>G (p.Lys1260Arg) |
single nucleotide variant |
not specified [RCV004642617] |
Chr18:58536408 [GRCh38] Chr18:56203640 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6066C>A (p.Asn2022Lys) |
single nucleotide variant |
not specified [RCV004644421] |
Chr18:58504112 [GRCh38] Chr18:56171344 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4754C>T (p.Ser1585Leu) |
single nucleotide variant |
not specified [RCV004644437] |
Chr18:58535433 [GRCh38] Chr18:56202665 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.49A>T (p.Thr17Ser) |
single nucleotide variant |
not specified [RCV004633894] |
Chr18:58611749 [GRCh38] Chr18:56278981 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.394C>T (p.His132Tyr) |
single nucleotide variant |
not specified [RCV004639841] |
Chr18:58580382 [GRCh38] Chr18:56247614 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4498G>C (p.Gly1500Arg) |
single nucleotide variant |
not specified [RCV004639893] |
Chr18:58535689 [GRCh38] Chr18:56202921 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5000A>G (p.Lys1667Arg) |
single nucleotide variant |
not specified [RCV004642175] |
Chr18:58535187 [GRCh38] Chr18:56202419 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2790G>A (p.Glu930=) |
single nucleotide variant |
not specified [RCV004644203] |
Chr18:58537397 [GRCh38] Chr18:56204629 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6315C>A (p.Gly2105=) |
single nucleotide variant |
not specified [RCV004636950] |
Chr18:58482021 [GRCh38] Chr18:56149253 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.110G>T (p.Gly37Val) |
single nucleotide variant |
not specified [RCV004636981] |
Chr18:58607439 [GRCh38] Chr18:56274671 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4907A>G (p.Gln1636Arg) |
single nucleotide variant |
not specified [RCV004636983] |
Chr18:58535280 [GRCh38] Chr18:56202512 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3851T>C (p.Val1284Ala) |
single nucleotide variant |
not specified [RCV004639897] |
Chr18:58536336 [GRCh38] Chr18:56203568 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1945T>C (p.Trp649Arg) |
single nucleotide variant |
not specified [RCV004639920] |
Chr18:58578831 [GRCh38] Chr18:56246063 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1588G>A (p.Gly530Ser) |
single nucleotide variant |
not specified [RCV004633922] |
Chr18:58579188 [GRCh38] Chr18:56246420 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2399C>A (p.Ala800Glu) |
single nucleotide variant |
not specified [RCV004633925] |
Chr18:58537788 [GRCh38] Chr18:56205020 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6022G>T (p.Val2008Leu) |
single nucleotide variant |
not specified [RCV004633969] |
Chr18:58515000 [GRCh38] Chr18:56182232 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4629T>G (p.Ser1543Arg) |
single nucleotide variant |
not specified [RCV004639948] |
Chr18:58535558 [GRCh38] Chr18:56202790 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3287G>T (p.Cys1096Phe) |
single nucleotide variant |
not specified [RCV004639955] |
Chr18:58536900 [GRCh38] Chr18:56204132 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4272A>T (p.Glu1424Asp) |
single nucleotide variant |
not specified [RCV004640005] |
Chr18:58535915 [GRCh38] Chr18:56203147 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1056G>A (p.Glu352=) |
single nucleotide variant |
not specified [RCV004640041] |
Chr18:58579720 [GRCh38] Chr18:56246952 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.248C>T (p.Ala83Val) |
single nucleotide variant |
not specified [RCV004644443] |
Chr18:58580528 [GRCh38] Chr18:56247760 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1797A>C (p.Ala599=) |
single nucleotide variant |
not specified [RCV004631528] |
Chr18:58578979 [GRCh38] Chr18:56246211 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2578C>G (p.Leu860Val) |
single nucleotide variant |
not specified [RCV004631580] |
Chr18:58537609 [GRCh38] Chr18:56204841 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2517T>C (p.Asp839=) |
single nucleotide variant |
not specified [RCV004637006] |
Chr18:58537670 [GRCh38] Chr18:56204902 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3132C>T (p.Ser1044=) |
single nucleotide variant |
not specified [RCV004637031] |
Chr18:58537055 [GRCh38] Chr18:56204287 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4668C>A (p.Asp1556Glu) |
single nucleotide variant |
not specified [RCV004637148] |
Chr18:58535519 [GRCh38] Chr18:56202751 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4120C>G (p.Gln1374Glu) |
single nucleotide variant |
not specified [RCV004637192] |
Chr18:58536067 [GRCh38] Chr18:56203299 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5642T>C (p.Leu1881Pro) |
single nucleotide variant |
not specified [RCV004639985] |
Chr18:58523829 [GRCh38] Chr18:56191061 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3857C>G (p.Pro1286Arg) |
single nucleotide variant |
not specified [RCV004640093] |
Chr18:58536330 [GRCh38] Chr18:56203562 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3563G>T (p.Gly1188Val) |
single nucleotide variant |
not specified [RCV004642138] |
Chr18:58536624 [GRCh38] Chr18:56203856 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4926C>A (p.Pro1642=) |
single nucleotide variant |
not specified [RCV004633860] |
Chr18:58535261 [GRCh38] Chr18:56202493 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6473A>G (p.Lys2158Arg) |
single nucleotide variant |
not specified [RCV004642262] |
Chr18:58481863 [GRCh38] Chr18:56149095 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4813C>A (p.Leu1605Ile) |
single nucleotide variant |
not specified [RCV004642285] |
Chr18:58535374 [GRCh38] Chr18:56202606 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1524G>A (p.Met508Ile) |
single nucleotide variant |
not specified [RCV004642295] |
Chr18:58579252 [GRCh38] Chr18:56246484 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.843A>G (p.Ala281=) |
single nucleotide variant |
not specified [RCV004642336] |
Chr18:58579933 [GRCh38] Chr18:56247165 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1805G>A (p.Cys602Tyr) |
single nucleotide variant |
not specified [RCV004633798] |
Chr18:58578971 [GRCh38] Chr18:56246203 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.117C>G (p.Pro39=) |
single nucleotide variant |
not specified [RCV004633964] |
Chr18:58607432 [GRCh38] Chr18:56274664 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_052947.4(ALPK2):c.1498T>C (p.Ser500Pro) |
single nucleotide variant |
not specified [RCV004642487] |
Chr18:58579278 [GRCh38] Chr18:56246510 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.918T>C (p.Ser306=) |
single nucleotide variant |
not specified [RCV004642521] |
Chr18:58579858 [GRCh38] Chr18:56247090 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3485C>T (p.Ala1162Val) |
single nucleotide variant |
not specified [RCV004642536] |
Chr18:58536702 [GRCh38] Chr18:56203934 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3688T>G (p.Trp1230Gly) |
single nucleotide variant |
not specified [RCV004642603] |
Chr18:58536499 [GRCh38] Chr18:56203731 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2658G>A (p.Met886Ile) |
single nucleotide variant |
not specified [RCV004642359] |
Chr18:58537529 [GRCh38] Chr18:56204761 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4000A>G (p.Ser1334Gly) |
single nucleotide variant |
not specified [RCV004642366] |
Chr18:58536187 [GRCh38] Chr18:56203419 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6438G>C (p.Gly2146=) |
single nucleotide variant |
not specified [RCV004642479] |
Chr18:58481898 [GRCh38] Chr18:56149130 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5559G>T (p.Gln1853His) |
single nucleotide variant |
not specified [RCV004642568] |
Chr18:58524005 [GRCh38] Chr18:56191237 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2997T>G (p.Phe999Leu) |
single nucleotide variant |
not specified [RCV004642611] |
Chr18:58537190 [GRCh38] Chr18:56204422 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5179G>A (p.Val1727Ile) |
single nucleotide variant |
not specified [RCV004637073] |
Chr18:58535008 [GRCh38] Chr18:56202240 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.392C>T (p.Thr131Ile) |
single nucleotide variant |
not specified [RCV004637228] |
Chr18:58580384 [GRCh38] Chr18:56247616 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3518C>T (p.Ala1173Val) |
single nucleotide variant |
not specified [RCV004633822] |
Chr18:58536669 [GRCh38] Chr18:56203901 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5265T>C (p.Leu1755=) |
single nucleotide variant |
not specified [RCV004633891] |
Chr18:58534922 [GRCh38] Chr18:56202154 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1107T>C (p.His369=) |
single nucleotide variant |
not specified [RCV004633936] |
Chr18:58579669 [GRCh38] Chr18:56246901 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5707G>A (p.Asp1903Asn) |
single nucleotide variant |
not specified [RCV004633938] |
Chr18:58517141 [GRCh38] Chr18:56184373 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1060G>A (p.Val354Ile) |
single nucleotide variant |
not specified [RCV004644144] |
Chr18:58579716 [GRCh38] Chr18:56246948 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6209A>G (p.Gln2070Arg) |
single nucleotide variant |
not specified [RCV004639761] |
Chr18:58503969 [GRCh38] Chr18:56171201 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4027G>T (p.Val1343Leu) |
single nucleotide variant |
not specified [RCV004642157] |
Chr18:58536160 [GRCh38] Chr18:56203392 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2391C>G (p.Asp797Glu) |
single nucleotide variant |
not specified [RCV004642192] |
Chr18:58537796 [GRCh38] Chr18:56205028 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1410A>G (p.Arg470=) |
single nucleotide variant |
not specified [RCV004642219] |
Chr18:58579366 [GRCh38] Chr18:56246598 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5192T>G (p.Ile1731Ser) |
single nucleotide variant |
not specified [RCV004642224] |
Chr18:58534995 [GRCh38] Chr18:56202227 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3929G>A (p.Ser1310Asn) |
single nucleotide variant |
not specified [RCV004642250] |
Chr18:58536258 [GRCh38] Chr18:56203490 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4746T>G (p.Phe1582Leu) |
single nucleotide variant |
not specified [RCV004644244] |
Chr18:58535441 [GRCh38] Chr18:56202673 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5393C>T (p.Pro1798Leu) |
single nucleotide variant |
not specified [RCV004644247] |
Chr18:58529199 [GRCh38] Chr18:56196431 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4412A>C (p.Gln1471Pro) |
single nucleotide variant |
not specified [RCV004644360] |
Chr18:58535775 [GRCh38] Chr18:56203007 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1002T>A (p.Asp334Glu) |
single nucleotide variant |
not specified [RCV004639869] |
Chr18:58579774 [GRCh38] Chr18:56247006 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.390G>A (p.Gly130=) |
single nucleotide variant |
not specified [RCV004642280] |
Chr18:58580386 [GRCh38] Chr18:56247618 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3374A>G (p.Asn1125Ser) |
single nucleotide variant |
not specified [RCV004642328] |
Chr18:58536813 [GRCh38] Chr18:56204045 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2362C>A (p.Leu788Met) |
single nucleotide variant |
not specified [RCV004642452] |
Chr18:58537825 [GRCh38] Chr18:56205057 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1087G>C (p.Glu363Gln) |
single nucleotide variant |
not specified [RCV004644459] |
Chr18:58579689 [GRCh38] Chr18:56246921 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6402A>C (p.Gln2134His) |
single nucleotide variant |
not specified [RCV004644472] |
Chr18:58481934 [GRCh38] Chr18:56149166 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3522C>G (p.His1174Gln) |
single nucleotide variant |
not specified [RCV004639978] |
Chr18:58536665 [GRCh38] Chr18:56203897 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1549G>T (p.Asp517Tyr) |
single nucleotide variant |
not specified [RCV004639994] |
Chr18:58579227 [GRCh38] Chr18:56246459 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.836C>G (p.Ala279Gly) |
single nucleotide variant |
not specified [RCV004640049] |
Chr18:58579940 [GRCh38] Chr18:56247172 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5801T>C (p.Phe1934Ser) |
single nucleotide variant |
not specified [RCV004640082] |
Chr18:58517047 [GRCh38] Chr18:56184279 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1265C>T (p.Pro422Leu) |
single nucleotide variant |
not specified [RCV004636960] |
Chr18:58579511 [GRCh38] Chr18:56246743 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2847G>A (p.Glu949=) |
single nucleotide variant |
not specified [RCV004631278] |
Chr18:58537340 [GRCh38] Chr18:56204572 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6165A>C (p.Ser2055=) |
single nucleotide variant |
not specified [RCV004631284] |
Chr18:58504013 [GRCh38] Chr18:56171245 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5873A>T (p.Asn1958Ile) |
single nucleotide variant |
not specified [RCV004637161] |
Chr18:58516975 [GRCh38] Chr18:56184207 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4229G>A (p.Ser1410Asn) |
single nucleotide variant |
not specified [RCV004631324] |
Chr18:58535958 [GRCh38] Chr18:56203190 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3770C>A (p.Ser1257Tyr) |
single nucleotide variant |
not specified [RCV004631373] |
Chr18:58536417 [GRCh38] Chr18:56203649 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1061T>C (p.Val354Ala) |
single nucleotide variant |
not specified [RCV004631555] |
Chr18:58579715 [GRCh38] Chr18:56246947 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1900G>A (p.Gly634Ser) |
single nucleotide variant |
not specified [RCV004631445] |
Chr18:58578876 [GRCh38] Chr18:56246108 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2147G>T (p.Gly716Val) |
single nucleotide variant |
not specified [RCV004631434] |
Chr18:58538040 [GRCh38] Chr18:56205272 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5064G>C (p.Glu1688Asp) |
single nucleotide variant |
not specified [RCV004631588] |
Chr18:58535123 [GRCh38] Chr18:56202355 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6373T>G (p.Cys2125Gly) |
single nucleotide variant |
not specified [RCV004639907] |
Chr18:58481963 [GRCh38] Chr18:56149195 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1507T>C (p.Ser503Pro) |
single nucleotide variant |
not specified [RCV004633831] |
Chr18:58579269 [GRCh38] Chr18:56246501 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4234A>T (p.Ile1412Leu) |
single nucleotide variant |
not specified [RCV004631596] |
Chr18:58535953 [GRCh38] Chr18:56203185 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5146G>A (p.Glu1716Lys) |
single nucleotide variant |
not specified [RCV004631608] |
Chr18:58535041 [GRCh38] Chr18:56202273 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.736G>T (p.Asp246Tyr) |
single nucleotide variant |
not specified [RCV004631610] |
Chr18:58580040 [GRCh38] Chr18:56247272 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1003G>A (p.Val335Ile) |
single nucleotide variant |
not specified [RCV004631613] |
Chr18:58579773 [GRCh38] Chr18:56247005 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1792G>C (p.Asp598His) |
single nucleotide variant |
not specified [RCV004639911] |
Chr18:58578984 [GRCh38] Chr18:56246216 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.146G>T (p.Gly49Val) |
single nucleotide variant |
not specified [RCV004639940] |
Chr18:58607403 [GRCh38] Chr18:56274635 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.4847G>A (p.Gly1616Glu) |
single nucleotide variant |
not specified [RCV004642464] |
Chr18:58535340 [GRCh38] Chr18:56202572 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2173A>G (p.Arg725Gly) |
single nucleotide variant |
not specified [RCV004642552] |
Chr18:58538014 [GRCh38] Chr18:56205246 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1229T>C (p.Val410Ala) |
single nucleotide variant |
not specified [RCV004633920] |
Chr18:58579547 [GRCh38] Chr18:56246779 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4528A>G (p.Ile1510Val) |
single nucleotide variant |
not specified [RCV004633924] |
Chr18:58535659 [GRCh38] Chr18:56202891 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5997A>G (p.Ala1999=) |
single nucleotide variant |
not specified [RCV004633834] |
Chr18:58515025 [GRCh38] Chr18:56182257 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2068T>C (p.Ser690Pro) |
single nucleotide variant |
not specified [RCV004636937] |
Chr18:58538119 [GRCh38] Chr18:56205351 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.745A>G (p.Asn249Asp) |
single nucleotide variant |
not specified [RCV004640073] |
Chr18:58580031 [GRCh38] Chr18:56247263 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2366A>G (p.Glu789Gly) |
single nucleotide variant |
not specified [RCV004644301] |
Chr18:58537821 [GRCh38] Chr18:56205053 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.34C>A (p.Leu12Met) |
single nucleotide variant |
not specified [RCV004644331] |
Chr18:58611764 [GRCh38] Chr18:56278996 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.920A>T (p.Asp307Val) |
single nucleotide variant |
not specified [RCV004644339] |
Chr18:58579856 [GRCh38] Chr18:56247088 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5848C>T (p.His1950Tyr) |
single nucleotide variant |
not specified [RCV004644429] |
Chr18:58517000 [GRCh38] Chr18:56184232 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6203T>G (p.Val2068Gly) |
single nucleotide variant |
not specified [RCV004637140] |
Chr18:58503975 [GRCh38] Chr18:56171207 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4346C>T (p.Pro1449Leu) |
single nucleotide variant |
not specified [RCV004637208] |
Chr18:58535841 [GRCh38] Chr18:56203073 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5189A>C (p.Lys1730Thr) |
single nucleotide variant |
not specified [RCV004637244] |
Chr18:58534998 [GRCh38] Chr18:56202230 [GRCh37] Chr18:18q21.31 |
uncertain significance |
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 |
copy number gain |
not provided [RCV004819319] |
Chr18:19309942..78014123 [GRCh37] Chr18:18q11.2-23 |
pathogenic |
GRCh37/hg19 18q21.31-23(chr18:56102873-74360560)x3 |
copy number gain |
not provided [RCV004819282] |
Chr18:56102873..74360560 [GRCh37] Chr18:18q21.31-23 |
likely pathogenic |
NM_052947.4(ALPK2):c.5357C>T (p.Pro1786Leu) |
single nucleotide variant |
not specified [RCV004926808] |
Chr18:58529235 [GRCh38] Chr18:56196467 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4975G>A (p.Glu1659Lys) |
single nucleotide variant |
not specified [RCV004926813] |
Chr18:58535212 [GRCh38] Chr18:56202444 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.408G>A (p.Arg136=) |
single nucleotide variant |
not specified [RCV004929558] |
Chr18:58580368 [GRCh38] Chr18:56247600 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.932G>T (p.Cys311Phe) |
single nucleotide variant |
not specified [RCV004929622] |
Chr18:58579844 [GRCh38] Chr18:56247076 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6010G>T (p.Gly2004Cys) |
single nucleotide variant |
not specified [RCV004929638] |
Chr18:58515012 [GRCh38] Chr18:56182244 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.170T>A (p.Ile57Asn) |
single nucleotide variant |
not specified [RCV004929639] |
Chr18:58607379 [GRCh38] Chr18:56274611 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1017C>T (p.Tyr339=) |
single nucleotide variant |
not specified [RCV004929644] |
Chr18:58579759 [GRCh38] Chr18:56246991 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.702A>G (p.Thr234=) |
single nucleotide variant |
not specified [RCV004929650] |
Chr18:58580074 [GRCh38] Chr18:56247306 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1335A>C (p.Glu445Asp) |
single nucleotide variant |
not specified [RCV004929725] |
Chr18:58579441 [GRCh38] Chr18:56246673 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3078A>C (p.Ser1026=) |
single nucleotide variant |
not specified [RCV004929736] |
Chr18:58537109 [GRCh38] Chr18:56204341 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4792C>T (p.Pro1598Ser) |
single nucleotide variant |
not specified [RCV004929758] |
Chr18:58535395 [GRCh38] Chr18:56202627 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1939C>G (p.Pro647Ala) |
single nucleotide variant |
not specified [RCV004929761] |
Chr18:58578837 [GRCh38] Chr18:56246069 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4887A>C (p.Glu1629Asp) |
single nucleotide variant |
not specified [RCV004929800] |
Chr18:58535300 [GRCh38] Chr18:56202532 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1673C>T (p.Thr558Ile) |
single nucleotide variant |
not specified [RCV004929842] |
Chr18:58579103 [GRCh38] Chr18:56246335 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2619G>C (p.Val873=) |
single nucleotide variant |
not specified [RCV004929979] |
Chr18:58537568 [GRCh38] Chr18:56204800 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.640G>A (p.Gly214Arg) |
single nucleotide variant |
not specified [RCV004932236] |
Chr18:58580136 [GRCh38] Chr18:56247368 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5515T>C (p.Ser1839Pro) |
single nucleotide variant |
not specified [RCV004932246] |
Chr18:58524049 [GRCh38] Chr18:56191281 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2458G>T (p.Asp820Tyr) |
single nucleotide variant |
not specified [RCV004932288] |
Chr18:58537729 [GRCh38] Chr18:56204961 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3051C>T (p.Val1017=) |
single nucleotide variant |
not specified [RCV004932297] |
Chr18:58537136 [GRCh38] Chr18:56204368 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3935A>G (p.Glu1312Gly) |
single nucleotide variant |
not specified [RCV004929990] |
Chr18:58536252 [GRCh38] Chr18:56203484 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4212T>C (p.Asp1404=) |
single nucleotide variant |
not specified [RCV004929991] |
Chr18:58535975 [GRCh38] Chr18:56203207 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.888C>A (p.Ser296Arg) |
single nucleotide variant |
not specified [RCV004929992] |
Chr18:58579888 [GRCh38] Chr18:56247120 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2334C>T (p.Ser778=) |
single nucleotide variant |
not specified [RCV004930050] |
Chr18:58537853 [GRCh38] Chr18:56205085 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5769G>A (p.Leu1923=) |
single nucleotide variant |
not specified [RCV004932357] |
Chr18:58517079 [GRCh38] Chr18:56184311 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2350A>C (p.Thr784Pro) |
single nucleotide variant |
not specified [RCV004932366] |
Chr18:58537837 [GRCh38] Chr18:56205069 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5766G>C (p.Glu1922Asp) |
single nucleotide variant |
not specified [RCV004932437] |
Chr18:58517082 [GRCh38] Chr18:56184314 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4007C>T (p.Pro1336Leu) |
single nucleotide variant |
not specified [RCV004932549] |
Chr18:58536180 [GRCh38] Chr18:56203412 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4640T>G (p.Ile1547Arg) |
single nucleotide variant |
not specified [RCV004932551] |
Chr18:58535547 [GRCh38] Chr18:56202779 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1353C>T (p.Leu451=) |
single nucleotide variant |
not specified [RCV004932469] |
Chr18:58579423 [GRCh38] Chr18:56246655 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3644C>G (p.Ser1215Cys) |
single nucleotide variant |
not specified [RCV004930000] |
Chr18:58536543 [GRCh38] Chr18:56203775 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2500G>A (p.Glu834Lys) |
single nucleotide variant |
not specified [RCV004930011] |
Chr18:58537687 [GRCh38] Chr18:56204919 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5175G>A (p.Glu1725=) |
single nucleotide variant |
not specified [RCV004930060] |
Chr18:58535012 [GRCh38] Chr18:56202244 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4955C>A (p.Thr1652Asn) |
single nucleotide variant |
not specified [RCV004930069] |
Chr18:58535232 [GRCh38] Chr18:56202464 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1592C>T (p.Ser531Leu) |
single nucleotide variant |
not specified [RCV004932387] |
Chr18:58579184 [GRCh38] Chr18:56246416 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.660A>C (p.Ser220=) |
single nucleotide variant |
not specified [RCV004932416] |
Chr18:58580116 [GRCh38] Chr18:56247348 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3052C>T (p.His1018Tyr) |
single nucleotide variant |
not specified [RCV004932426] |
Chr18:58537135 [GRCh38] Chr18:56204367 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.368G>C (p.Arg123Thr) |
single nucleotide variant |
not specified [RCV004926999] |
Chr18:58580408 [GRCh38] Chr18:56247640 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3957C>T (p.Pro1319=) |
single nucleotide variant |
not specified [RCV004932506] |
Chr18:58536230 [GRCh38] Chr18:56203462 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4223A>G (p.Glu1408Gly) |
single nucleotide variant |
not specified [RCV004932540] |
Chr18:58535964 [GRCh38] Chr18:56203196 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.310G>C (p.Val104Leu) |
single nucleotide variant |
not specified [RCV004932458] |
Chr18:58580466 [GRCh38] Chr18:56247698 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5086G>A (p.Gly1696Ser) |
single nucleotide variant |
not specified [RCV004932605] |
Chr18:58535101 [GRCh38] Chr18:56202333 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1558G>T (p.Val520Leu) |
single nucleotide variant |
not specified [RCV004927020] |
Chr18:58579218 [GRCh38] Chr18:56246450 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2044C>G (p.Pro682Ala) |
single nucleotide variant |
not specified [RCV004927025] |
Chr18:58538143 [GRCh38] Chr18:56205375 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.556A>C (p.Ser186Arg) |
single nucleotide variant |
not specified [RCV004927071] |
Chr18:58580220 [GRCh38] Chr18:56247452 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2237C>A (p.Ala746Asp) |
single nucleotide variant |
not specified [RCV004931684] |
Chr18:58537950 [GRCh38] Chr18:56205182 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2142C>G (p.Thr714=) |
single nucleotide variant |
not specified [RCV004931700] |
Chr18:58538045 [GRCh38] Chr18:56205277 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2156A>G (p.His719Arg) |
single nucleotide variant |
not specified [RCV004931781] |
Chr18:58538031 [GRCh38] Chr18:56205263 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4206T>C (p.Ser1402=) |
single nucleotide variant |
not specified [RCV004931893] |
Chr18:58535981 [GRCh38] Chr18:56203213 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1888T>G (p.Cys630Gly) |
single nucleotide variant |
not specified [RCV004926642] |
Chr18:58578888 [GRCh38] Chr18:56246120 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.596C>T (p.Thr199Ile) |
single nucleotide variant |
not specified [RCV004929591] |
Chr18:58580180 [GRCh38] Chr18:56247412 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6464T>G (p.Met2155Arg) |
single nucleotide variant |
not specified [RCV004931917] |
Chr18:58481872 [GRCh38] Chr18:56149104 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5231A>G (p.Glu1744Gly) |
single nucleotide variant |
not specified [RCV004931894] |
Chr18:58534956 [GRCh38] Chr18:56202188 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6348A>G (p.Lys2116=) |
single nucleotide variant |
not specified [RCV004931986] |
Chr18:58481988 [GRCh38] Chr18:56149220 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1019C>T (p.Ser340Phe) |
single nucleotide variant |
not specified [RCV004934255] |
Chr18:58579757 [GRCh38] Chr18:56246989 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.761A>T (p.Asp254Val) |
single nucleotide variant |
not specified [RCV004934274] |
Chr18:58580015 [GRCh38] Chr18:56247247 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5507G>T (p.Gly1836Val) |
single nucleotide variant |
not specified [RCV004934285] |
Chr18:58524057 [GRCh38] Chr18:56191289 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.382G>A (p.Glu128Lys) |
single nucleotide variant |
not specified [RCV004934346] |
Chr18:58580394 [GRCh38] Chr18:56247626 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6121T>C (p.Ser2041Pro) |
single nucleotide variant |
not specified [RCV004934356] |
Chr18:58504057 [GRCh38] Chr18:56171289 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1590T>G (p.Gly530=) |
single nucleotide variant |
not specified [RCV004934373] |
Chr18:58579186 [GRCh38] Chr18:56246418 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3473C>G (p.Pro1158Arg) |
single nucleotide variant |
not specified [RCV004926698] |
Chr18:58536714 [GRCh38] Chr18:56203946 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1825G>A (p.Glu609Lys) |
single nucleotide variant |
not specified [RCV004934383] |
Chr18:58578951 [GRCh38] Chr18:56246183 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4089T>C (p.Thr1363=) |
single nucleotide variant |
not specified [RCV004934420] |
Chr18:58536098 [GRCh38] Chr18:56203330 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.180C>A (p.Asn60Lys) |
single nucleotide variant |
not specified [RCV004934429] |
Chr18:58607369 [GRCh38] Chr18:56274601 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1793A>T (p.Asp598Val) |
single nucleotide variant |
not specified [RCV004934459] |
Chr18:58578983 [GRCh38] Chr18:56246215 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2900G>C (p.Ser967Thr) |
single nucleotide variant |
not specified [RCV004934475] |
Chr18:58537287 [GRCh38] Chr18:56204519 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1330A>G (p.Thr444Ala) |
single nucleotide variant |
not specified [RCV004934491] |
Chr18:58579446 [GRCh38] Chr18:56246678 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5031C>A (p.Thr1677=) |
single nucleotide variant |
not specified [RCV004934513] |
Chr18:58535156 [GRCh38] Chr18:56202388 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5765A>G (p.Glu1922Gly) |
single nucleotide variant |
not specified [RCV004926804] |
Chr18:58517083 [GRCh38] Chr18:56184315 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1013A>G (p.Asp338Gly) |
single nucleotide variant |
not specified [RCV004929853] |
Chr18:58579763 [GRCh38] Chr18:56246995 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4685G>A (p.Gly1562Asp) |
single nucleotide variant |
not specified [RCV004929918] |
Chr18:58535502 [GRCh38] Chr18:56202734 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1368G>A (p.Glu456=) |
single nucleotide variant |
not specified [RCV004929926] |
Chr18:58579408 [GRCh38] Chr18:56246640 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3163G>T (p.Val1055Leu) |
single nucleotide variant |
not specified [RCV004929958] |
Chr18:58537024 [GRCh38] Chr18:56204256 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5506G>A (p.Gly1836Arg) |
single nucleotide variant |
not specified [RCV004929969] |
Chr18:58524058 [GRCh38] Chr18:56191290 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4497A>C (p.Glu1499Asp) |
single nucleotide variant |
not specified [RCV004929981] |
Chr18:58535690 [GRCh38] Chr18:56202922 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6037C>G (p.Pro2013Ala) |
single nucleotide variant |
not specified [RCV004929982] |
Chr18:58504141 [GRCh38] Chr18:56171373 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4840C>T (p.Pro1614Ser) |
single nucleotide variant |
not specified [RCV004932225] |
Chr18:58535347 [GRCh38] Chr18:56202579 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5821G>C (p.Gly1941Arg) |
single nucleotide variant |
not specified [RCV004932196] |
Chr18:58517027 [GRCh38] Chr18:56184259 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4191A>C (p.Lys1397Asn) |
single nucleotide variant |
not specified [RCV004932192] |
Chr18:58535996 [GRCh38] Chr18:56203228 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2748T>C (p.Asn916=) |
single nucleotide variant |
not specified [RCV004932280] |
Chr18:58537439 [GRCh38] Chr18:56204671 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4572T>C (p.Ala1524=) |
single nucleotide variant |
not specified [RCV004932321] |
Chr18:58535615 [GRCh38] Chr18:56202847 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2468T>A (p.Val823Asp) |
single nucleotide variant |
not specified [RCV004932326] |
Chr18:58537719 [GRCh38] Chr18:56204951 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4810G>C (p.Asp1604His) |
single nucleotide variant |
not specified [RCV004932335] |
Chr18:58535377 [GRCh38] Chr18:56202609 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4654T>C (p.Ser1552Pro) |
single nucleotide variant |
not specified [RCV004934571] |
Chr18:58535533 [GRCh38] Chr18:56202765 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3331A>C (p.Ser1111Arg) |
single nucleotide variant |
not specified [RCV004934592] |
Chr18:58536856 [GRCh38] Chr18:56204088 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2193C>T (p.Asp731=) |
single nucleotide variant |
not specified [RCV004934612] |
Chr18:58537994 [GRCh38] Chr18:56205226 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2892C>T (p.Pro964=) |
single nucleotide variant |
not specified [RCV004934623] |
Chr18:58537295 [GRCh38] Chr18:56204527 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4480G>A (p.Val1494Ile) |
single nucleotide variant |
not specified [RCV004929192] |
Chr18:58535707 [GRCh38] Chr18:56202939 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4388G>A (p.Ser1463Asn) |
single nucleotide variant |
not specified [RCV004934244] |
Chr18:58535799 [GRCh38] Chr18:56203031 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2241T>C (p.Asn747=) |
single nucleotide variant |
not specified [RCV004934290] |
Chr18:58537946 [GRCh38] Chr18:56205178 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.814T>G (p.Phe272Val) |
single nucleotide variant |
not specified [RCV004934291] |
Chr18:58579962 [GRCh38] Chr18:56247194 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6371A>C (p.Tyr2124Ser) |
single nucleotide variant |
not specified [RCV004934293] |
Chr18:58481965 [GRCh38] Chr18:56149197 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5762A>T (p.Glu1921Val) |
single nucleotide variant |
not specified [RCV004934295] |
Chr18:58517086 [GRCh38] Chr18:56184318 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1329G>A (p.Val443=) |
single nucleotide variant |
not specified [RCV004934296] |
Chr18:58579447 [GRCh38] Chr18:56246679 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.768C>T (p.Gly256=) |
single nucleotide variant |
not specified [RCV004934297] |
Chr18:58580008 [GRCh38] Chr18:56247240 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4601T>C (p.Leu1534Ser) |
single nucleotide variant |
not specified [RCV004934298] |
Chr18:58535586 [GRCh38] Chr18:56202818 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3563G>C (p.Gly1188Ala) |
single nucleotide variant |
not specified [RCV004926814] |
Chr18:58536624 [GRCh38] Chr18:56203856 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6266C>T (p.Thr2089Ile) |
single nucleotide variant |
not specified [RCV004931872] |
Chr18:58498079 [GRCh38] Chr18:56165311 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6262C>T (p.Leu2088=) |
single nucleotide variant |
not specified [RCV004931927] |
Chr18:58498083 [GRCh38] Chr18:56165315 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4323G>T (p.Met1441Ile) |
single nucleotide variant |
not specified [RCV004931807] |
Chr18:58535864 [GRCh38] Chr18:56203096 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2740G>T (p.Val914Leu) |
single nucleotide variant |
not specified [RCV004931954] |
Chr18:58537447 [GRCh38] Chr18:56204679 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5767C>A (p.Leu1923Met) |
single nucleotide variant |
not specified [RCV004934367] |
Chr18:58517081 [GRCh38] Chr18:56184313 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6471A>C (p.Ile2157=) |
single nucleotide variant |
not specified [RCV004934325] |
Chr18:58481865 [GRCh38] Chr18:56149097 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4625C>T (p.Ser1542Phe) |
single nucleotide variant |
not specified [RCV004934312] |
Chr18:58535562 [GRCh38] Chr18:56202794 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4703C>T (p.Pro1568Leu) |
single nucleotide variant |
not specified [RCV004934394] |
Chr18:58535484 [GRCh38] Chr18:56202716 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6063G>A (p.Glu2021=) |
single nucleotide variant |
not specified [RCV004934403] |
Chr18:58504115 [GRCh38] Chr18:56171347 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6058C>T (p.Pro2020Ser) |
single nucleotide variant |
not specified [RCV004934464] |
Chr18:58504120 [GRCh38] Chr18:56171352 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3329A>T (p.Lys1110Met) |
single nucleotide variant |
not specified [RCV004926902] |
Chr18:58536858 [GRCh38] Chr18:56204090 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6509C>A (p.Thr2170Asn) |
single nucleotide variant |
not specified [RCV004934561] |
Chr18:58481827 [GRCh38] Chr18:56149059 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4460C>T (p.Ala1487Val) |
single nucleotide variant |
not specified [RCV004927038] |
Chr18:58535727 [GRCh38] Chr18:56202959 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1174G>A (p.Gly392Arg) |
single nucleotide variant |
not specified [RCV004927040] |
Chr18:58579602 [GRCh38] Chr18:56246834 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1232G>A (p.Gly411Glu) |
single nucleotide variant |
not specified [RCV004932178] |
Chr18:58579544 [GRCh38] Chr18:56246776 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2318C>A (p.Ala773Asp) |
single nucleotide variant |
not specified [RCV004932218] |
Chr18:58537869 [GRCh38] Chr18:56205101 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1517C>T (p.Ser506Leu) |
single nucleotide variant |
not specified [RCV004932285] |
Chr18:58579259 [GRCh38] Chr18:56246491 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5436A>G (p.Glu1812=) |
single nucleotide variant |
not specified [RCV004932286] |
Chr18:58529156 [GRCh38] Chr18:56196388 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.469A>C (p.Thr157Pro) |
single nucleotide variant |
not specified [RCV004932287] |
Chr18:58580307 [GRCh38] Chr18:56247539 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6235A>G (p.Thr2079Ala) |
single nucleotide variant |
not specified [RCV004932289] |
Chr18:58503943 [GRCh38] Chr18:56171175 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.826C>T (p.Leu276=) |
single nucleotide variant |
not specified [RCV004932292] |
Chr18:58579950 [GRCh38] Chr18:56247182 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4272A>C (p.Glu1424Asp) |
single nucleotide variant |
not specified [RCV004932307] |
Chr18:58535915 [GRCh38] Chr18:56203147 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3077C>T (p.Ser1026Leu) |
single nucleotide variant |
not specified [RCV004932207] |
Chr18:58537110 [GRCh38] Chr18:56204342 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3756A>G (p.Arg1252=) |
single nucleotide variant |
not specified [RCV004929899] |
Chr18:58536431 [GRCh38] Chr18:56203663 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5345A>G (p.Glu1782Gly) |
single nucleotide variant |
not specified [RCV004929983] |
Chr18:58534842 [GRCh38] Chr18:56202074 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6478G>T (p.Ala2160Ser) |
single nucleotide variant |
not specified [RCV004929985] |
Chr18:58481858 [GRCh38] Chr18:56149090 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3080T>C (p.Ile1027Thr) |
single nucleotide variant |
not specified [RCV004929986] |
Chr18:58537107 [GRCh38] Chr18:56204339 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4712A>G (p.Asp1571Gly) |
single nucleotide variant |
not specified [RCV004929987] |
Chr18:58535475 [GRCh38] Chr18:56202707 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3318G>C (p.Leu1106=) |
single nucleotide variant |
not specified [RCV004929988] |
Chr18:58536869 [GRCh38] Chr18:56204101 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6362G>A (p.Cys2121Tyr) |
single nucleotide variant |
not specified [RCV004929989] |
Chr18:58481974 [GRCh38] Chr18:56149206 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.11C>T (p.Ser4Phe) |
single nucleotide variant |
not specified [RCV004932376] |
Chr18:58611787 [GRCh38] Chr18:56279019 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.3377T>C (p.Phe1126Ser) |
single nucleotide variant |
not specified [RCV004932446] |
Chr18:58536810 [GRCh38] Chr18:56204042 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6069T>C (p.Asn2023=) |
single nucleotide variant |
not specified [RCV004930042] |
Chr18:58504109 [GRCh38] Chr18:56171341 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6000G>A (p.Gln2000=) |
single nucleotide variant |
not specified [RCV004930046] |
Chr18:58515022 [GRCh38] Chr18:56182254 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3413A>G (p.Gln1138Arg) |
single nucleotide variant |
not specified [RCV004930047] |
Chr18:58536774 [GRCh38] Chr18:56204006 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5666G>T (p.Gly1889Val) |
single nucleotide variant |
not specified [RCV004932454] |
Chr18:58517182 [GRCh38] Chr18:56184414 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4932C>T (p.Ser1644=) |
single nucleotide variant |
not specified [RCV004932484] |
Chr18:58535255 [GRCh38] Chr18:56202487 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.372T>G (p.Gly124=) |
single nucleotide variant |
not specified [RCV004932495] |
Chr18:58580404 [GRCh38] Chr18:56247636 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3601G>C (p.Gly1201Arg) |
single nucleotide variant |
not specified [RCV004932519] |
Chr18:58536586 [GRCh38] Chr18:56203818 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.369G>C (p.Arg123Ser) |
single nucleotide variant |
not specified [RCV004932475] |
Chr18:58580407 [GRCh38] Chr18:56247639 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5304A>G (p.Thr1768=) |
single nucleotide variant |
not specified [RCV004932529] |
Chr18:58534883 [GRCh38] Chr18:56202115 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.1207C>T (p.His403Tyr) |
single nucleotide variant |
not specified [RCV004932474] |
Chr18:58579569 [GRCh38] Chr18:56246801 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5058G>C (p.Glu1686Asp) |
single nucleotide variant |
not specified [RCV004932525] |
Chr18:58535129 [GRCh38] Chr18:56202361 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4469C>A (p.Ala1490Asp) |
single nucleotide variant |
not specified [RCV004932526] |
Chr18:58535718 [GRCh38] Chr18:56202950 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5093C>T (p.Ser1698Leu) |
single nucleotide variant |
not specified [RCV004932587] |
Chr18:58535094 [GRCh38] Chr18:56202326 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2333C>T (p.Ser778Phe) |
single nucleotide variant |
not specified [RCV004932594] |
Chr18:58537854 [GRCh38] Chr18:56205086 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1467A>G (p.Glu489=) |
single nucleotide variant |
not specified [RCV004931676] |
Chr18:58579309 [GRCh38] Chr18:56246541 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3423C>T (p.Ser1141=) |
single nucleotide variant |
not specified [RCV004930048] |
Chr18:58536764 [GRCh38] Chr18:56203996 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4259C>A (p.Pro1420Gln) |
single nucleotide variant |
not specified [RCV004930049] |
Chr18:58535928 [GRCh38] Chr18:56203160 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1079A>G (p.Asp360Gly) |
single nucleotide variant |
not specified [RCV004930051] |
Chr18:58579697 [GRCh38] Chr18:56246929 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1381G>C (p.Asp461His) |
single nucleotide variant |
not specified [RCV004930052] |
Chr18:58579395 [GRCh38] Chr18:56246627 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3884C>T (p.Ala1295Val) |
single nucleotide variant |
not specified [RCV004930054] |
Chr18:58536303 [GRCh38] Chr18:56203535 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4541A>G (p.Gln1514Arg) |
single nucleotide variant |
not specified [RCV004930096] |
Chr18:58535646 [GRCh38] Chr18:56202878 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1774G>A (p.Gly592Ser) |
single nucleotide variant |
not specified [RCV004932616] |
Chr18:58579002 [GRCh38] Chr18:56246234 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5027G>A (p.Gly1676Asp) |
single nucleotide variant |
not specified [RCV004932626] |
Chr18:58535160 [GRCh38] Chr18:56202392 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.316T>C (p.Cys106Arg) |
single nucleotide variant |
not specified [RCV004932635] |
Chr18:58580460 [GRCh38] Chr18:56247692 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1761A>G (p.Thr587=) |
single nucleotide variant |
not specified [RCV004929763] |
Chr18:58579015 [GRCh38] Chr18:56246247 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2883C>T (p.Asp961=) |
single nucleotide variant |
not specified [RCV004929764] |
Chr18:58537304 [GRCh38] Chr18:56204536 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2236G>C (p.Ala746Pro) |
single nucleotide variant |
not specified [RCV004934315] |
Chr18:58537951 [GRCh38] Chr18:56205183 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2881G>A (p.Asp961Asn) |
single nucleotide variant |
not specified [RCV004934413] |
Chr18:58537306 [GRCh38] Chr18:56204538 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5175G>C (p.Glu1725Asp) |
single nucleotide variant |
not specified [RCV004932398] |
Chr18:58535012 [GRCh38] Chr18:56202244 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4686C>G (p.Gly1562=) |
single nucleotide variant |
not specified [RCV004932405] |
Chr18:58535501 [GRCh38] Chr18:56202733 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.629A>C (p.Glu210Ala) |
single nucleotide variant |
not specified [RCV004932406] |
Chr18:58580147 [GRCh38] Chr18:56247379 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6332T>C (p.Phe2111Ser) |
single nucleotide variant |
not specified [RCV004934452] |
Chr18:58482004 [GRCh38] Chr18:56149236 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.195G>T (p.Glu65Asp) |
single nucleotide variant |
not specified [RCV004929886] |
Chr18:58607354 [GRCh38] Chr18:56274586 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2093A>G (p.His698Arg) |
single nucleotide variant |
not specified [RCV004929907] |
Chr18:58538094 [GRCh38] Chr18:56205326 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2053G>C (p.Gly685Arg) |
single nucleotide variant |
not specified [RCV004929937] |
Chr18:58538134 [GRCh38] Chr18:56205366 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6173G>C (p.Gly2058Ala) |
single nucleotide variant |
not specified [RCV004932547] |
Chr18:58504005 [GRCh38] Chr18:56171237 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3515C>T (p.Thr1172Met) |
single nucleotide variant |
not specified [RCV004932548] |
Chr18:58536672 [GRCh38] Chr18:56203904 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5038T>A (p.Cys1680Ser) |
single nucleotide variant |
not specified [RCV004932576] |
Chr18:58535149 [GRCh38] Chr18:56202381 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.67G>A (p.Val23Ile) |
single nucleotide variant |
not specified [RCV004932638] |
Chr18:58611731 [GRCh38] Chr18:56278963 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.1368G>C (p.Glu456Asp) |
single nucleotide variant |
not specified [RCV004932642] |
Chr18:58579408 [GRCh38] Chr18:56246640 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.534C>A (p.Gly178=) |
single nucleotide variant |
not specified [RCV004934523] |
Chr18:58580242 [GRCh38] Chr18:56247474 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.882A>G (p.Gln294=) |
single nucleotide variant |
not specified [RCV004934603] |
Chr18:58579894 [GRCh38] Chr18:56247126 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.181T>G (p.Tyr61Asp) |
single nucleotide variant |
not specified [RCV004930021] |
Chr18:58607368 [GRCh38] Chr18:56274600 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.5466A>C (p.Thr1822=) |
single nucleotide variant |
not specified [RCV004930031] |
Chr18:58529126 [GRCh38] Chr18:56196358 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4160C>T (p.Ala1387Val) |
single nucleotide variant |
not specified [RCV004930079] |
Chr18:58536027 [GRCh38] Chr18:56203259 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1572C>G (p.Asp524Glu) |
single nucleotide variant |
not specified [RCV004930086] |
Chr18:58579204 [GRCh38] Chr18:56246436 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1775G>A (p.Gly592Asp) |
single nucleotide variant |
not specified [RCV004934440] |
Chr18:58579001 [GRCh38] Chr18:56246233 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4249G>T (p.Ala1417Ser) |
single nucleotide variant |
not specified [RCV004926831] |
Chr18:58535938 [GRCh38] Chr18:56203170 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6098T>G (p.Leu2033Arg) |
single nucleotide variant |
not specified [RCV004926882] |
Chr18:58504080 [GRCh38] Chr18:56171312 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1502G>A (p.Gly501Asp) |
single nucleotide variant |
not specified [RCV004934502] |
Chr18:58579274 [GRCh38] Chr18:56246506 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4551T>G (p.Ser1517Arg) |
single nucleotide variant |
not specified [RCV004934581] |
Chr18:58535636 [GRCh38] Chr18:56202868 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5437A>G (p.Ile1813Val) |
single nucleotide variant |
not specified [RCV004934539] |
Chr18:58529155 [GRCh38] Chr18:56196387 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.379C>A (p.His127Asn) |
single nucleotide variant |
not specified [RCV004934532] |
Chr18:58580397 [GRCh38] Chr18:56247629 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4614T>C (p.Thr1538=) |
single nucleotide variant |
not specified [RCV004934531] |
Chr18:58535573 [GRCh38] Chr18:56202805 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4888C>A (p.Pro1630Thr) |
single nucleotide variant |
not specified [RCV004934529] |
Chr18:58535299 [GRCh38] Chr18:56202531 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.131C>G (p.Thr44Ser) |
single nucleotide variant |
not specified [RCV004926988] |
Chr18:58607418 [GRCh38] Chr18:56274650 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.633T>C (p.Ile211=) |
single nucleotide variant |
not specified [RCV004931707] |
Chr18:58580143 [GRCh38] Chr18:56247375 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3476C>A (p.Thr1159Lys) |
single nucleotide variant |
not specified [RCV004932041] |
Chr18:58536711 [GRCh38] Chr18:56203943 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.188T>C (p.Phe63Ser) |
single nucleotide variant |
not specified [RCV004927060] |
Chr18:58607361 [GRCh38] Chr18:56274593 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.2134C>T (p.Pro712Ser) |
single nucleotide variant |
not specified [RCV004926678] |
Chr18:58538053 [GRCh38] Chr18:56205285 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5741T>C (p.Leu1914Pro) |
single nucleotide variant |
not specified [RCV004926747] |
Chr18:58517107 [GRCh38] Chr18:56184339 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2636G>T (p.Ser879Ile) |
single nucleotide variant |
not specified [RCV004932051] |
Chr18:58537551 [GRCh38] Chr18:56204783 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2496T>A (p.Pro832=) |
single nucleotide variant |
not specified [RCV004932188] |
Chr18:58537691 [GRCh38] Chr18:56204923 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6276C>T (p.Gly2092=) |
single nucleotide variant |
not specified [RCV004932191] |
Chr18:58498069 [GRCh38] Chr18:56165301 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3393T>G (p.Ser1131Arg) |
single nucleotide variant |
not specified [RCV004926775] |
Chr18:58536794 [GRCh38] Chr18:56204026 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2479G>T (p.Val827Phe) |
single nucleotide variant |
not specified [RCV004926785] |
Chr18:58537708 [GRCh38] Chr18:56204940 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3073G>A (p.Val1025Met) |
single nucleotide variant |
not specified [RCV004926793] |
Chr18:58537114 [GRCh38] Chr18:56204346 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2065A>G (p.Ile689Val) |
single nucleotide variant |
not specified [RCV004929675] |
Chr18:58538122 [GRCh38] Chr18:56205354 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1145G>A (p.Gly382Asp) |
single nucleotide variant |
not specified [RCV004929708] |
Chr18:58579631 [GRCh38] Chr18:56246863 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5894G>A (p.Arg1965Lys) |
single nucleotide variant |
not specified [RCV004932257] |
Chr18:58516954 [GRCh38] Chr18:56184186 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1246A>C (p.Arg416=) |
single nucleotide variant |
not specified [RCV004932314] |
Chr18:58579530 [GRCh38] Chr18:56246762 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2908G>A (p.Asp970Asn) |
single nucleotide variant |
not specified [RCV004932315] |
Chr18:58537279 [GRCh38] Chr18:56204511 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.587C>A (p.Thr196Lys) |
single nucleotide variant |
not specified [RCV004934152] |
Chr18:58580189 [GRCh38] Chr18:56247421 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3915A>C (p.Ser1305=) |
single nucleotide variant |
not specified [RCV004929747] |
Chr18:58536272 [GRCh38] Chr18:56203504 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5274G>T (p.Met1758Ile) |
single nucleotide variant |
not specified [RCV004929770] |
Chr18:58534913 [GRCh38] Chr18:56202145 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4014C>T (p.Leu1338=) |
single nucleotide variant |
not specified [RCV004929778] |
Chr18:58536173 [GRCh38] Chr18:56203405 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5876C>A (p.Ala1959Asp) |
single nucleotide variant |
not specified [RCV004929789] |
Chr18:58516972 [GRCh38] Chr18:56184204 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3996T>C (p.Gly1332=) |
single nucleotide variant |
not specified [RCV004929803] |
Chr18:58536191 [GRCh38] Chr18:56203423 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6061G>A (p.Glu2021Lys) |
single nucleotide variant |
not specified [RCV004929804] |
Chr18:58504117 [GRCh38] Chr18:56171349 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3764C>T (p.Thr1255Ile) |
single nucleotide variant |
not specified [RCV004929805] |
Chr18:58536423 [GRCh38] Chr18:56203655 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2691C>T (p.Asn897=) |
single nucleotide variant |
not specified [RCV004929809] |
Chr18:58537496 [GRCh38] Chr18:56204728 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3995G>T (p.Gly1332Val) |
single nucleotide variant |
not specified [RCV004929828] |
Chr18:58536192 [GRCh38] Chr18:56203424 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6232G>A (p.Val2078Met) |
single nucleotide variant |
not specified [RCV004929844] |
Chr18:58503946 [GRCh38] Chr18:56171178 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5515T>A (p.Ser1839Thr) |
single nucleotide variant |
not specified [RCV004929845] |
Chr18:58524049 [GRCh38] Chr18:56191281 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5625T>G (p.Ala1875=) |
single nucleotide variant |
not specified [RCV004932346] |
Chr18:58523939 [GRCh38] Chr18:56191171 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5559G>A (p.Gln1853=) |
single nucleotide variant |
not specified [RCV004934233] |
Chr18:58524005 [GRCh38] Chr18:56191237 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3503A>G (p.Asn1168Ser) |
single nucleotide variant |
not specified [RCV004934263] |
Chr18:58536684 [GRCh38] Chr18:56203916 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3299C>G (p.Pro1100Arg) |
single nucleotide variant |
not specified [RCV004932123] |
Chr18:58536888 [GRCh38] Chr18:56204120 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3028A>C (p.Thr1010Pro) |
single nucleotide variant |
not specified [RCV004932170] |
Chr18:58537159 [GRCh38] Chr18:56204391 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2084G>A (p.Gly695Glu) |
single nucleotide variant |
not specified [RCV004932268] |
Chr18:58538103 [GRCh38] Chr18:56205335 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5372A>G (p.Lys1791Arg) |
single nucleotide variant |
not specified [RCV004929864] |
Chr18:58529220 [GRCh38] Chr18:56196452 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4156A>G (p.Thr1386Ala) |
single nucleotide variant |
not specified [RCV004929894] |
Chr18:58536031 [GRCh38] Chr18:56203263 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2579T>A (p.Leu860Gln) |
single nucleotide variant |
not specified [RCV004929895] |
Chr18:58537608 [GRCh38] Chr18:56204840 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2052T>C (p.Thr684=) |
single nucleotide variant |
not specified [RCV004929948] |
Chr18:58538135 [GRCh38] Chr18:56205367 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2620T>C (p.Ser874Pro) |
single nucleotide variant |
not specified [RCV004932513] |
Chr18:58537567 [GRCh38] Chr18:56204799 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.6471A>G (p.Ile2157Met) |
single nucleotide variant |
not specified [RCV004929602] |
Chr18:58481865 [GRCh38] Chr18:56149097 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1234G>A (p.Val412Met) |
single nucleotide variant |
not specified [RCV004929613] |
Chr18:58579542 [GRCh38] Chr18:56246774 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2801C>T (p.Pro934Leu) |
single nucleotide variant |
not specified [RCV004929633] |
Chr18:58537386 [GRCh38] Chr18:56204618 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3176A>T (p.His1059Leu) |
single nucleotide variant |
not specified [RCV004929686] |
Chr18:58537011 [GRCh38] Chr18:56204243 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.2798G>A (p.Ser933Asn) |
single nucleotide variant |
not specified [RCV004929697] |
Chr18:58537389 [GRCh38] Chr18:56204621 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.264G>T (p.Ser88=) |
single nucleotide variant |
not specified [RCV004934306] |
Chr18:58580512 [GRCh38] Chr18:56247744 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6197A>T (p.His2066Leu) |
single nucleotide variant |
not specified [RCV004934336] |
Chr18:58503981 [GRCh38] Chr18:56171213 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4532G>T (p.Gly1511Val) |
single nucleotide variant |
not specified [RCV004926936] |
Chr18:58535655 [GRCh38] Chr18:56202887 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.989T>C (p.Leu330Pro) |
single nucleotide variant |
not specified [RCV004926937] |
Chr18:58579787 [GRCh38] Chr18:56247019 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4682C>T (p.Thr1561Ile) |
single nucleotide variant |
not specified [RCV004926948] |
Chr18:58535505 [GRCh38] Chr18:56202737 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1576T>C (p.Trp526Arg) |
single nucleotide variant |
not specified [RCV004932600] |
Chr18:58579200 [GRCh38] Chr18:56246432 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3410T>C (p.Val1137Ala) |
single nucleotide variant |
not specified [RCV004360979] |
Chr18:58536777 [GRCh38] Chr18:56204009 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.642G>T (p.Gly214=) |
single nucleotide variant |
not specified [RCV004360986] |
Chr18:58580134 [GRCh38] Chr18:56247366 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.571T>C (p.Leu191=) |
single nucleotide variant |
not specified [RCV004360987] |
Chr18:58580205 [GRCh38] Chr18:56247437 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.5593G>A (p.Gly1865Arg) |
single nucleotide variant |
not specified [RCV004360957] |
Chr18:58523971 [GRCh38] Chr18:56191203 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.1815A>G (p.Ser605=) |
single nucleotide variant |
not specified [RCV004360977] |
Chr18:58578961 [GRCh38] Chr18:56246193 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.6148T>A (p.Phe2050Ile) |
single nucleotide variant |
not specified [RCV004360958] |
Chr18:58504030 [GRCh38] Chr18:56171262 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3126T>A (p.Arg1042=) |
single nucleotide variant |
not specified [RCV004360962] |
Chr18:58537061 [GRCh38] Chr18:56204293 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.2224A>G (p.Ser742Gly) |
single nucleotide variant |
not specified [RCV004398861] |
Chr18:58537963 [GRCh38] Chr18:56205195 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3172G>A (p.Asp1058Asn) |
single nucleotide variant |
not specified [RCV004398885] |
Chr18:58537015 [GRCh38] Chr18:56204247 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.78G>T (p.Lys26Asn) |
single nucleotide variant |
not specified [RCV004644129] |
Chr18:58611720 [GRCh38] Chr18:56278952 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_052947.4(ALPK2):c.6192C>T (p.Phe2064=) |
single nucleotide variant |
not specified [RCV004644170] |
Chr18:58503986 [GRCh38] Chr18:56171218 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.731A>T (p.Asp244Val) |
single nucleotide variant |
not specified [RCV004929839] |
Chr18:58580045 [GRCh38] Chr18:56247277 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3453T>C (p.Pro1151=) |
single nucleotide variant |
not specified [RCV004932108] |
Chr18:58536734 [GRCh38] Chr18:56203966 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3352G>C (p.Asp1118His) |
single nucleotide variant |
not specified [RCV004929660] |
Chr18:58536835 [GRCh38] Chr18:56204067 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3351A>C (p.Ala1117=) |
single nucleotide variant |
not specified [RCV004929672] |
Chr18:58536836 [GRCh38] Chr18:56204068 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.504C>T (p.Ser168=) |
single nucleotide variant |
not specified [RCV004929716] |
Chr18:58580272 [GRCh38] Chr18:56247504 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.726C>T (p.Phe242=) |
single nucleotide variant |
not specified [RCV004929762] |
Chr18:58580050 [GRCh38] Chr18:56247282 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.331C>G (p.Pro111Ala) |
single nucleotide variant |
not specified [RCV004929765] |
Chr18:58580445 [GRCh38] Chr18:56247677 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.5709C>T (p.Asp1903=) |
single nucleotide variant |
not specified [RCV004929766] |
Chr18:58517139 [GRCh38] Chr18:56184371 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4377A>T (p.Gly1459=) |
single nucleotide variant |
not specified [RCV004929767] |
Chr18:58535810 [GRCh38] Chr18:56203042 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.336A>G (p.Gln112=) |
single nucleotide variant |
not specified [RCV004932160] |
Chr18:58580440 [GRCh38] Chr18:56247672 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.3777C>A (p.Ser1259Arg) |
single nucleotide variant |
not specified [RCV004934484] |
Chr18:58536410 [GRCh38] Chr18:56203642 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3691G>A (p.Glu1231Lys) |
single nucleotide variant |
not specified [RCV004926729] |
Chr18:58536496 [GRCh38] Chr18:56203728 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.3583G>T (p.Val1195Leu) |
single nucleotide variant |
not specified [RCV004929768] |
Chr18:58536604 [GRCh38] Chr18:56203836 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.852C>T (p.Tyr284=) |
single nucleotide variant |
not specified [RCV004929819] |
Chr18:58579924 [GRCh38] Chr18:56247156 [GRCh37] Chr18:18q21.31 |
likely benign |
NM_052947.4(ALPK2):c.4547G>A (p.Ser1516Asn) |
single nucleotide variant |
not specified [RCV004934550] |
Chr18:58535640 [GRCh38] Chr18:56202872 [GRCh37] Chr18:18q21.31 |
uncertain significance |
NM_052947.4(ALPK2):c.4450C>T (p.Pro1484Ser) |
single nucleotide variant |
not specified [RCV004929875] |
Chr18:58535737 [GRCh38] Chr18:56202969 [GRCh37] Chr18:18q21.31 |
uncertain significance |