GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 |
copy number gain |
See cases [RCV000051857] |
Chr1:187143981..224299417 [GRCh38] Chr1:187113113..224487119 [GRCh37] Chr1:185379736..222553742 [NCBI36] Chr1:1q31.1-42.11 |
pathogenic |
NM_203459.2(CAMSAP2):c.2225C>T (p.Thr742Ile) |
single nucleotide variant |
Malignant melanoma [RCV000064437] |
Chr1:200848994 [GRCh38] Chr1:200818122 [GRCh37] Chr1:199084745 [NCBI36] Chr1:1q32.1 |
not provided |
GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1 |
copy number loss |
See cases [RCV000133625] |
Chr1:200144603..203112078 [GRCh38] Chr1:200113731..203081206 [GRCh37] Chr1:198380354..201347829 [NCBI36] Chr1:1q32.1 |
pathogenic |
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 |
copy number gain |
See cases [RCV000240137] |
Chr1:197811907..228997888 [GRCh37] Chr1:1q31.3-42.13 |
pathogenic |
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 |
copy number gain |
See cases [RCV000449172] |
Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 |
copy number loss |
See cases [RCV000445748] |
Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_203459.4(CAMSAP2):c.3715A>G (p.Thr1239Ala) |
single nucleotide variant |
not specified [RCV004314925] |
Chr1:200853387 [GRCh38] Chr1:200822515 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.4174C>T (p.Arg1392Trp) |
single nucleotide variant |
not specified [RCV004304430] |
Chr1:200857796 [GRCh38] Chr1:200826924 [GRCh37] Chr1:1q32.1 |
uncertain significance |
GRCh37/hg19 1q32.1(chr1:200799541-201011646)x3 |
copy number gain |
not provided [RCV000684685] |
Chr1:200799541..201011646 [GRCh37] Chr1:1q32.1 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 |
copy number gain |
not provided [RCV000749265] |
Chr1:185644663..221698833 [GRCh37] Chr1:1q25.3-41 |
pathogenic |
NM_203459.4(CAMSAP2):c.1868T>C (p.Met623Thr) |
single nucleotide variant |
Premature ovarian insufficiency [RCV000766157] |
Chr1:200848637 [GRCh38] Chr1:200817765 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2510T>G (p.Ile837Arg) |
single nucleotide variant |
Premature ovarian insufficiency [RCV000766158]|not provided [RCV004691293] |
Chr1:200849279 [GRCh38] Chr1:200818407 [GRCh37] Chr1:1q32.1 |
uncertain significance |
GRCh37/hg19 1q32.1(chr1:200575876-200784156)x4 |
copy number gain |
not provided [RCV000846349] |
Chr1:200575876..200784156 [GRCh37] Chr1:1q32.1 |
uncertain significance |
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 |
copy number gain |
not provided [RCV000845852] |
Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44 |
pathogenic |
NM_203459.4(CAMSAP2):c.1790G>A (p.Gly597Asp) |
single nucleotide variant |
not specified [RCV004313483] |
Chr1:200848559 [GRCh38] Chr1:200817687 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3083C>G (p.Pro1028Arg) |
single nucleotide variant |
not provided [RCV000955260] |
Chr1:200849852 [GRCh38] Chr1:200818980 [GRCh37] Chr1:1q32.1 |
benign |
GRCh37/hg19 1q32.1(chr1:200795738-201013947)x3 |
copy number gain |
not provided [RCV002472891] |
Chr1:200795738..201013947 [GRCh37] Chr1:1q32.1 |
uncertain significance |
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 |
copy number gain |
not provided [RCV001249273] |
Chr1:194356425..210988710 [GRCh37] Chr1:1q31.3-32.2 |
not provided |
NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) |
copy number loss |
not specified [RCV002053780] |
Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
NC_000001.10:g.(?_200522516)_(206945780_?)dup |
duplication |
Epilepsy, familial adult myoclonic, 5 [RCV003116306] |
Chr1:200522516..206945780 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NC_000001.10:g.(?_200522516)_(208391267_?)dup |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] |
Chr1:200522516..208391267 [GRCh37] Chr1:1q32.1-32.2 |
uncertain significance|no classifications from unflagged records |
NM_203459.4(CAMSAP2):c.4187G>A (p.Cys1396Tyr) |
single nucleotide variant |
not specified [RCV004289639] |
Chr1:200857809 [GRCh38] Chr1:200826937 [GRCh37] Chr1:1q32.1 |
uncertain significance |
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 |
copy number gain |
See cases [RCV002287837] |
Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
NM_203459.4(CAMSAP2):c.1961C>G (p.Thr654Ser) |
single nucleotide variant |
not specified [RCV004202514] |
Chr1:200848730 [GRCh38] Chr1:200817858 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3577A>G (p.Met1193Val) |
single nucleotide variant |
not specified [RCV004196647] |
Chr1:200852652 [GRCh38] Chr1:200821780 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3397T>C (p.Tyr1133His) |
single nucleotide variant |
not specified [RCV004157929] |
Chr1:200850166 [GRCh38] Chr1:200819294 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.70C>T (p.His24Tyr) |
single nucleotide variant |
not specified [RCV004108280] |
Chr1:200739897 [GRCh38] Chr1:200709025 [GRCh37] Chr1:1q32.1 |
uncertain significance |
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 |
copy number gain |
not provided [RCV002475637] |
Chr1:181453460..213107248 [GRCh37] Chr1:1q25.3-32.3 |
pathogenic |
NM_203459.4(CAMSAP2):c.3290C>A (p.Pro1097His) |
single nucleotide variant |
not specified [RCV004100785] |
Chr1:200850059 [GRCh38] Chr1:200819187 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3619G>C (p.Glu1207Gln) |
single nucleotide variant |
not specified [RCV004095735] |
Chr1:200853291 [GRCh38] Chr1:200822419 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.4105G>A (p.Glu1369Lys) |
single nucleotide variant |
not specified [RCV004147533] |
Chr1:200857398 [GRCh38] Chr1:200826526 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.104A>G (p.Asn35Ser) |
single nucleotide variant |
not specified [RCV004202042] |
Chr1:200739931 [GRCh38] Chr1:200709059 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2243C>G (p.Ser748Cys) |
single nucleotide variant |
not provided [RCV004691507]|not specified [RCV004082341] |
Chr1:200849012 [GRCh38] Chr1:200818140 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.247C>T (p.Arg83Cys) |
single nucleotide variant |
not specified [RCV004181561] |
Chr1:200760946 [GRCh38] Chr1:200730074 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.272G>A (p.Ser91Asn) |
single nucleotide variant |
not specified [RCV004222489] |
Chr1:200760971 [GRCh38] Chr1:200730099 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3379G>A (p.Asp1127Asn) |
single nucleotide variant |
not specified [RCV004096872] |
Chr1:200850148 [GRCh38] Chr1:200819276 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1067C>T (p.Ala356Val) |
single nucleotide variant |
not specified [RCV004096575] |
Chr1:200844827 [GRCh38] Chr1:200813955 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2180G>C (p.Trp727Ser) |
single nucleotide variant |
not specified [RCV004182675] |
Chr1:200848949 [GRCh38] Chr1:200818077 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2741A>G (p.Gln914Arg) |
single nucleotide variant |
not specified [RCV004230568] |
Chr1:200849510 [GRCh38] Chr1:200818638 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.134G>A (p.Gly45Glu) |
single nucleotide variant |
not specified [RCV004155689] |
Chr1:200739961 [GRCh38] Chr1:200709089 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3914G>C (p.Gly1305Ala) |
single nucleotide variant |
not specified [RCV004224859] |
Chr1:200856027 [GRCh38] Chr1:200825155 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3805C>T (p.Pro1269Ser) |
single nucleotide variant |
not specified [RCV004142388] |
Chr1:200853477 [GRCh38] Chr1:200822605 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1120G>T (p.Ala374Ser) |
single nucleotide variant |
not specified [RCV004210250] |
Chr1:200847220 [GRCh38] Chr1:200816348 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2045C>G (p.Ser682Cys) |
single nucleotide variant |
not specified [RCV004144588] |
Chr1:200848814 [GRCh38] Chr1:200817942 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3122A>T (p.Lys1041Met) |
single nucleotide variant |
not specified [RCV004227349] |
Chr1:200849891 [GRCh38] Chr1:200819019 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.803A>C (p.Glu268Ala) |
single nucleotide variant |
not specified [RCV004189846] |
Chr1:200832721 [GRCh38] Chr1:200801849 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.769G>A (p.Asp257Asn) |
single nucleotide variant |
not specified [RCV004219452] |
Chr1:200832323 [GRCh38] Chr1:200801451 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1348C>T (p.Arg450Cys) |
single nucleotide variant |
not specified [RCV004086557] |
Chr1:200848117 [GRCh38] Chr1:200817245 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.406C>T (p.His136Tyr) |
single nucleotide variant |
not specified [RCV004149900] |
Chr1:200807382 [GRCh38] Chr1:200776510 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1724T>C (p.Met575Thr) |
single nucleotide variant |
not specified [RCV004089791] |
Chr1:200848493 [GRCh38] Chr1:200817621 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.635G>C (p.Gly212Ala) |
single nucleotide variant |
not specified [RCV004301333] |
Chr1:200815634 [GRCh38] Chr1:200784762 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.61C>A (p.Pro21Thr) |
single nucleotide variant |
not specified [RCV004250914] |
Chr1:200739888 [GRCh38] Chr1:200709016 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3301G>A (p.Val1101Ile) |
single nucleotide variant |
not specified [RCV004251733] |
Chr1:200850070 [GRCh38] Chr1:200819198 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3682C>T (p.Arg1228Trp) |
single nucleotide variant |
not specified [RCV004262312] |
Chr1:200853354 [GRCh38] Chr1:200822482 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.118G>A (p.Val40Met) |
single nucleotide variant |
not specified [RCV004268048] |
Chr1:200739945 [GRCh38] Chr1:200709073 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3554G>A (p.Arg1185Gln) |
single nucleotide variant |
not specified [RCV004283134] |
Chr1:200852629 [GRCh38] Chr1:200821757 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1342A>G (p.Ile448Val) |
single nucleotide variant |
not specified [RCV004263386] |
Chr1:200848111 [GRCh38] Chr1:200817239 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1861G>A (p.Glu621Lys) |
single nucleotide variant |
not specified [RCV004269918] |
Chr1:200848630 [GRCh38] Chr1:200817758 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.109G>T (p.Ala37Ser) |
single nucleotide variant |
not specified [RCV004351224] |
Chr1:200739936 [GRCh38] Chr1:200709064 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3082C>T (p.Pro1028Ser) |
single nucleotide variant |
not specified [RCV004337002] |
Chr1:200849851 [GRCh38] Chr1:200818979 [GRCh37] Chr1:1q32.1 |
uncertain significance |
GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1 |
copy number loss |
not specified [RCV003986384] |
Chr1:197216705..203683110 [GRCh37] Chr1:1q31.3-32.1 |
likely pathogenic |
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3 |
copy number gain |
not specified [RCV003986684] |
Chr1:199373229..204335027 [GRCh37] Chr1:1q32.1 |
likely pathogenic |
NM_203459.4(CAMSAP2):c.2984C>T (p.Pro995Leu) |
single nucleotide variant |
not specified [RCV004434712] |
Chr1:200849753 [GRCh38] Chr1:200818881 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3992C>T (p.Ala1331Val) |
single nucleotide variant |
not specified [RCV004434717] |
Chr1:200856105 [GRCh38] Chr1:200825233 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2639A>G (p.Tyr880Cys) |
single nucleotide variant |
not specified [RCV004434710] |
Chr1:200849408 [GRCh38] Chr1:200818536 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3806C>A (p.Pro1269Gln) |
single nucleotide variant |
not specified [RCV004434716] |
Chr1:200853478 [GRCh38] Chr1:200822606 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3697C>G (p.Leu1233Val) |
single nucleotide variant |
not specified [RCV004434715] |
Chr1:200853369 [GRCh38] Chr1:200822497 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.436G>A (p.Ala146Thr) |
single nucleotide variant |
not specified [RCV004434719] |
Chr1:200807412 [GRCh38] Chr1:200776540 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2781G>T (p.Gln927His) |
single nucleotide variant |
not specified [RCV004434711] |
Chr1:200849550 [GRCh38] Chr1:200818678 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2167C>T (p.His723Tyr) |
single nucleotide variant |
not specified [RCV004434709] |
Chr1:200848936 [GRCh38] Chr1:200818064 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3383T>G (p.Val1128Gly) |
single nucleotide variant |
not specified [RCV004434713] |
Chr1:200850152 [GRCh38] Chr1:200819280 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.343A>G (p.Thr115Ala) |
single nucleotide variant |
not specified [RCV004434714] |
Chr1:200761042 [GRCh38] Chr1:200730170 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His) |
single nucleotide variant |
not specified [RCV004434718] |
Chr1:200857395 [GRCh38] Chr1:200826523 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2675A>G (p.His892Arg) |
single nucleotide variant |
not specified [RCV004600678] |
Chr1:200849444 [GRCh38] Chr1:200818572 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NC_000001.10:g.(?_190829412)_(216061974_?)del |
deletion |
not provided [RCV004579260] |
Chr1:190829412..216061974 [GRCh37] Chr1:1q31.2-41 |
pathogenic |
NM_203459.4(CAMSAP2):c.3074A>C (p.Asp1025Ala) |
single nucleotide variant |
not specified [RCV004600676] |
Chr1:200849843 [GRCh38] Chr1:200818971 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1894T>G (p.Tyr632Asp) |
single nucleotide variant |
not specified [RCV004600679] |
Chr1:200848663 [GRCh38] Chr1:200817791 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1040T>A (p.Met347Lys) |
single nucleotide variant |
not specified [RCV004600677] |
Chr1:200844800 [GRCh38] Chr1:200813928 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.479G>T (p.Cys160Phe) |
single nucleotide variant |
not specified [RCV004600680] |
Chr1:200807455 [GRCh38] Chr1:200776583 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3186C>G (p.Ile1062Met) |
single nucleotide variant |
not specified [RCV004607301] |
Chr1:200849955 [GRCh38] Chr1:200819083 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2284C>T (p.Arg762Cys) |
single nucleotide variant |
not specified [RCV004895547] |
Chr1:200849053 [GRCh38] Chr1:200818181 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1588C>A (p.Leu530Ile) |
single nucleotide variant |
not specified [RCV004895552] |
Chr1:200848357 [GRCh38] Chr1:200817485 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.984G>A (p.Pro328=) |
single nucleotide variant |
not specified [RCV004892634] |
Chr1:200842050 [GRCh38] Chr1:200811178 [GRCh37] Chr1:1q32.1 |
likely benign |
NM_203459.4(CAMSAP2):c.3227C>G (p.Pro1076Arg) |
single nucleotide variant |
not specified [RCV004895538] |
Chr1:200849996 [GRCh38] Chr1:200819124 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1165C>T (p.Arg389Cys) |
single nucleotide variant |
not specified [RCV004895540] |
Chr1:200847265 [GRCh38] Chr1:200816393 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3025C>T (p.Pro1009Ser) |
single nucleotide variant |
not specified [RCV004895541] |
Chr1:200849794 [GRCh38] Chr1:200818922 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1589T>C (p.Leu530Pro) |
single nucleotide variant |
not specified [RCV004895542] |
Chr1:200848358 [GRCh38] Chr1:200817486 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.638G>T (p.Gly213Val) |
single nucleotide variant |
not specified [RCV004895543] |
Chr1:200815637 [GRCh38] Chr1:200784765 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3845C>T (p.Ser1282Leu) |
single nucleotide variant |
not specified [RCV004895544] |
Chr1:200854838 [GRCh38] Chr1:200823966 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1936T>C (p.Phe646Leu) |
single nucleotide variant |
not specified [RCV004895548] |
Chr1:200848705 [GRCh38] Chr1:200817833 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3132G>C (p.Leu1044Phe) |
single nucleotide variant |
not specified [RCV004895549] |
Chr1:200849901 [GRCh38] Chr1:200819029 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.421G>A (p.Asp141Asn) |
single nucleotide variant |
not specified [RCV004895550] |
Chr1:200807397 [GRCh38] Chr1:200776525 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.2876C>T (p.Ser959Phe) |
single nucleotide variant |
not specified [RCV004895551] |
Chr1:200849645 [GRCh38] Chr1:200818773 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.524A>G (p.Tyr175Cys) |
single nucleotide variant |
not specified [RCV004895553] |
Chr1:200807500 [GRCh38] Chr1:200776628 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.650G>A (p.Arg217His) |
single nucleotide variant |
not specified [RCV004895554] |
Chr1:200832204 [GRCh38] Chr1:200801332 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3853A>G (p.Thr1285Ala) |
single nucleotide variant |
not specified [RCV004892633] |
Chr1:200854846 [GRCh38] Chr1:200823974 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.1100T>A (p.Phe367Tyr) |
single nucleotide variant |
not specified [RCV004895539] |
Chr1:200844860 [GRCh38] Chr1:200813988 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3958G>A (p.Asp1320Asn) |
single nucleotide variant |
not specified [RCV004895555] |
Chr1:200856071 [GRCh38] Chr1:200825199 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.4406C>A (p.Thr1469Lys) |
single nucleotide variant |
not specified [RCV004895556] |
Chr1:200858028 [GRCh38] Chr1:200827156 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.4426A>G (p.Thr1476Ala) |
single nucleotide variant |
not specified [RCV004895546] |
Chr1:200858048 [GRCh38] Chr1:200827176 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.3932G>A (p.Arg1311His) |
single nucleotide variant |
not specified [RCV004895535] |
Chr1:200856045 [GRCh38] Chr1:200825173 [GRCh37] Chr1:1q32.1 |
uncertain significance |
NM_203459.4(CAMSAP2):c.782T>C (p.Leu261Ser) |
single nucleotide variant |
not specified [RCV004895536] |
Chr1:200832336 [GRCh38] Chr1:200801464 [GRCh37] Chr1:1q32.1 |
uncertain significance |