| ADCY10, 923C-T |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV001844008] |
Chr1:1q24 |
risk factor |
| ADCY10, 1438+30T-C |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV001844009] |
Chr1:1q24 |
risk factor |
| NM_018417.5(ADCY10):c.1463-2119C>G |
single nucleotide variant |
Lung cancer [RCV000089912] |
Chr1:167872529 [GRCh38]
Chr1:167841767 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 |
copy number gain |
See cases [RCV000051854] |
Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1 |
pathogenic |
| GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 |
copy number gain |
See cases [RCV000051856] |
Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2 |
pathogenic |
| GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] |
Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2 |
pathogenic |
| GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 |
copy number loss |
See cases [RCV000053914] |
Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1 |
pathogenic |
| GRCh38/hg38 1q23.3-24.3(chr1:164036599-171252077)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|See cases [RCV000053916] |
Chr1:164036599..171252077 [GRCh38]
Chr1:164005836..171221216 [GRCh37]
Chr1:162272460..169487840 [NCBI36]
Chr1:1q23.3-24.3 |
pathogenic |
| GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 |
copy number loss |
See cases [RCV000053917] |
Chr1:166762832..175327423 [GRCh38]
Chr1:166732069..175296559 [GRCh37]
Chr1:164998693..173563182 [NCBI36]
Chr1:1q24.1-25.1 |
pathogenic |
| NM_001167749.2(ADCY10):c.4284G>A (p.Trp1428Ter) |
single nucleotide variant |
Malignant melanoma [RCV000064295] |
Chr1:167809768 [GRCh38]
Chr1:167779005 [GRCh37]
Chr1:166045629 [NCBI36]
Chr1:1q24.2 |
not provided |
| NM_018417.6(ADCY10):c.4171T>G (p.Phe1391Val) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002486431]|not provided [RCV001348736] |
Chr1:167822139 [GRCh38]
Chr1:167791377 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| GRCh38/hg38 1q24.2(chr1:167801066-167863028)x1 |
copy number loss |
See cases [RCV000140151] |
Chr1:167801066..167863028 [GRCh38]
Chr1:167770303..167832266 [GRCh37]
Chr1:166036927..166098890 [NCBI36]
Chr1:1q24.2 |
likely benign |
| GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 |
copy number loss |
See cases [RCV000143292] |
Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1 |
pathogenic |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 |
copy number loss |
See cases [RCV000447098] |
Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3 |
pathogenic |
| NM_018417.6(ADCY10):c.2872G>T (p.Glu958Ter) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002480315]|not provided [RCV000427423] |
Chr1:167845698 [GRCh38]
Chr1:167814936 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3542A>G (p.Asn1181Ser) |
single nucleotide variant |
not provided [RCV000946521]|not specified [RCV000456041] |
Chr1:167833038 [GRCh38]
Chr1:167802276 [GRCh37]
Chr1:1q24.2 |
benign |
| 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_018417.6(ADCY10):c.2255T>C (p.Phe752Ser) |
single nucleotide variant |
not provided [RCV003720825]|not specified [RCV004297948] |
Chr1:167854406 [GRCh38]
Chr1:167823644 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3998A>G (p.Asn1333Ser) |
single nucleotide variant |
not specified [RCV004325672] |
Chr1:167824530 [GRCh38]
Chr1:167793768 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.709A>T (p.Met237Leu) |
single nucleotide variant |
not provided [RCV003549047]|not specified [RCV004324737] |
Chr1:167896625 [GRCh38]
Chr1:167865863 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4034G>A (p.Cys1345Tyr) |
single nucleotide variant |
not specified [RCV004281729] |
Chr1:167824494 [GRCh38]
Chr1:167793732 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.315G>C (p.Trp105Cys) |
single nucleotide variant |
not specified [RCV004311871] |
Chr1:167901783 [GRCh38]
Chr1:167871021 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1205_1206del (p.His402fs) |
microsatellite |
Abnormal sperm morphology [RCV000714269] |
Chr1:167880125..167880126 [GRCh38]
Chr1:167849363..167849364 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| 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 1q23.2-25.2(chr1:159815642-177026983)x1 |
copy number loss |
not provided [RCV000736717] |
Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2 |
pathogenic |
| GRCh37/hg19 1q24.2(chr1:167759751-167778843)x1 |
copy number loss |
not provided [RCV000736734] |
Chr1:167759751..167778843 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2438-109G>T |
single nucleotide variant |
not provided [RCV001541450] |
Chr1:167846372 [GRCh38]
Chr1:167815610 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2308+86C>T |
single nucleotide variant |
not provided [RCV001609887] |
Chr1:167854267 [GRCh38]
Chr1:167823505 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3593+157T>C |
single nucleotide variant |
not provided [RCV001648369] |
Chr1:167832830 [GRCh38]
Chr1:167802068 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.149-127A>G |
single nucleotide variant |
not provided [RCV001610156] |
Chr1:167904118 [GRCh38]
Chr1:167873356 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2172-245A>G |
single nucleotide variant |
not provided [RCV001692855] |
Chr1:167854734 [GRCh38]
Chr1:167823972 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1463-249dup |
duplication |
not provided [RCV001709142] |
Chr1:167870638..167870639 [GRCh38]
Chr1:167839876..167839877 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.*210T>G |
single nucleotide variant |
not provided [RCV001612749] |
Chr1:167809468 [GRCh38]
Chr1:167778705 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1020+295T>A |
single nucleotide variant |
not provided [RCV001645436] |
Chr1:167883142 [GRCh38]
Chr1:167852380 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2309-194G>T |
single nucleotide variant |
not provided [RCV001669117] |
Chr1:167848683 [GRCh38]
Chr1:167817921 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1407-129G>T |
single nucleotide variant |
not provided [RCV001649105] |
Chr1:167875315 [GRCh38]
Chr1:167844553 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.253+243C>G |
single nucleotide variant |
not provided [RCV001680483] |
Chr1:167903644 [GRCh38]
Chr1:167872882 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4052+44G>A |
single nucleotide variant |
not provided [RCV001725340] |
Chr1:167824432 [GRCh38]
Chr1:167793670 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2308+79A>G |
single nucleotide variant |
not provided [RCV001644542] |
Chr1:167854274 [GRCh38]
Chr1:167823512 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2097A>G (p.Ala699=) |
single nucleotide variant |
ADCY10-related disorder [RCV004756139]|not provided [RCV000969774] |
Chr1:167856239 [GRCh38]
Chr1:167825477 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.4482+3G>A |
single nucleotide variant |
not provided [RCV000958511] |
Chr1:167818069 [GRCh38]
Chr1:167787307 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3750+8A>T |
single nucleotide variant |
not provided [RCV000971846] |
Chr1:167829259 [GRCh38]
Chr1:167798497 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3999C>T (p.Asn1333=) |
single nucleotide variant |
not provided [RCV000906232] |
Chr1:167824529 [GRCh38]
Chr1:167793767 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1418T>C (p.Met473Thr) |
single nucleotide variant |
ADCY10-related disorder [RCV003928510]|not provided [RCV000971351] |
Chr1:167875175 [GRCh38]
Chr1:167844413 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1742G>A (p.Arg581Gln) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002507548]|not provided [RCV000879549]|not specified [RCV001817059] |
Chr1:167860938 [GRCh38]
Chr1:167830176 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.254-19dup |
duplication |
Familial idiopathic hypercalciuria [RCV002488027]|not provided [RCV000946522] |
Chr1:167902059..167902060 [GRCh38]
Chr1:167871297..167871298 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.4313A>G (p.Asn1438Ser) |
single nucleotide variant |
not provided [RCV000948231] |
Chr1:167818241 [GRCh38]
Chr1:167787479 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.254-6del |
deletion |
Familial idiopathic hypercalciuria [RCV002489295]|not provided [RCV000948232] |
Chr1:167902060 [GRCh38]
Chr1:167871298 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4075C>T (p.Leu1359=) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002501401]|not provided [RCV000883026] |
Chr1:167823101 [GRCh38]
Chr1:167792339 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4389A>T (p.Ile1463=) |
single nucleotide variant |
not provided [RCV000972657] |
Chr1:167818165 [GRCh38]
Chr1:167787403 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.224T>C (p.Leu75Pro) |
single nucleotide variant |
not provided [RCV001038624] |
Chr1:167903916 [GRCh38]
Chr1:167873154 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2895C>A (p.Asp965Glu) |
single nucleotide variant |
ADCY10-related disorder [RCV003920792]|not provided [RCV000893176] |
Chr1:167845675 [GRCh38]
Chr1:167814913 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3696C>T (p.His1232=) |
single nucleotide variant |
ADCY10-related disorder [RCV003970662]|Familial idiopathic hypercalciuria [RCV002502903]|not provided [RCV000946520] |
Chr1:167829321 [GRCh38]
Chr1:167798559 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.4377C>T (p.Tyr1459=) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002505483]|not provided [RCV000974164] |
Chr1:167818177 [GRCh38]
Chr1:167787415 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.1421C>T (p.Ala474Val) |
single nucleotide variant |
not specified [RCV004302028] |
Chr1:167875172 [GRCh38]
Chr1:167844410 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) |
copy number loss |
not provided [RCV000767779] |
Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1 |
pathogenic |
| GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1 |
copy number loss |
not provided [RCV001005149] |
Chr1:167430471..174635618 [GRCh37]
Chr1:1q24.2-25.1 |
pathogenic |
| GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1 |
copy number loss |
not provided [RCV000849156] |
Chr1:163093021..168991239 [GRCh37]
Chr1:1q23.3-24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.4625A>G (p.Glu1542Gly) |
single nucleotide variant |
not provided [RCV001052817] |
Chr1:167810771 [GRCh38]
Chr1:167780008 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2740C>T (p.Arg914Cys) |
single nucleotide variant |
not provided [RCV001060584] |
Chr1:167845830 [GRCh38]
Chr1:167815068 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.461T>A (p.Met154Lys) |
single nucleotide variant |
not provided [RCV001202730] |
Chr1:167899604 [GRCh38]
Chr1:167868842 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4000C>T (p.Arg1334Ter) |
single nucleotide variant |
not provided [RCV001219949] |
Chr1:167824528 [GRCh38]
Chr1:167793766 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.1263C>A (p.Tyr421Ter) |
single nucleotide variant |
not provided [RCV001221254] |
Chr1:167878589 [GRCh38]
Chr1:167847827 [GRCh37]
Chr1:1q24.2 |
pathogenic|likely pathogenic |
| NM_018417.6(ADCY10):c.1139+6T>G |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002497743]|not provided [RCV001218234] |
Chr1:167880485 [GRCh38]
Chr1:167849723 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2111A>G (p.Asp704Gly) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002484106]|not provided [RCV001204402]|not specified [RCV004033616] |
Chr1:167856225 [GRCh38]
Chr1:167825463 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2402del (p.Arg801fs) |
deletion |
not provided [RCV001202172] |
Chr1:167848396 [GRCh38]
Chr1:167817634 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.2005A>G (p.Ile669Val) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002480722]|not provided [RCV001219351]|not specified [RCV004032357] |
Chr1:167856331 [GRCh38]
Chr1:167825569 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1336C>T (p.Pro446Ser) |
single nucleotide variant |
not specified [RCV004299540] |
Chr1:167878516 [GRCh38]
Chr1:167847754 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3603G>C (p.Arg1201Ser) |
single nucleotide variant |
not specified [RCV004307787] |
Chr1:167829414 [GRCh38]
Chr1:167798652 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1878T>A (p.Phe626Leu) |
single nucleotide variant |
not provided [RCV003779894]|not specified [RCV004292328] |
Chr1:167859825 [GRCh38]
Chr1:167829063 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1406+164A>G |
single nucleotide variant |
not provided [RCV001641395] |
Chr1:167878282 [GRCh38]
Chr1:167847520 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4053-321_4053-320dup |
duplication |
not provided [RCV001621305] |
Chr1:167823424..167823425 [GRCh38]
Chr1:167792662..167792663 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2171+269T>C |
single nucleotide variant |
not provided [RCV001684007] |
Chr1:167855896 [GRCh38]
Chr1:167825134 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4482+45G>A |
single nucleotide variant |
not provided [RCV001635684] |
Chr1:167818027 [GRCh38]
Chr1:167787265 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3008-140A>G |
single nucleotide variant |
not provided [RCV001658644] |
Chr1:167837458 [GRCh38]
Chr1:167806696 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3417+207dup |
duplication |
not provided [RCV001679339] |
Chr1:167833744..167833745 [GRCh38]
Chr1:167802982..167802983 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1809+103C>G |
single nucleotide variant |
not provided [RCV001534391] |
Chr1:167860768 [GRCh38]
Chr1:167830006 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1217-111A>G |
single nucleotide variant |
not provided [RCV001615517] |
Chr1:167878746 [GRCh38]
Chr1:167847984 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4671+97T>G |
single nucleotide variant |
not provided [RCV001652102] |
Chr1:167810628 [GRCh38]
Chr1:167779865 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.828+156_828+157del |
deletion |
not provided [RCV001676088] |
Chr1:167893696..167893697 [GRCh38]
Chr1:167862934..167862935 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3310-117G>A |
single nucleotide variant |
not provided [RCV001655979] |
Chr1:167834194 [GRCh38]
Chr1:167803432 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1216+26C>T |
single nucleotide variant |
not provided [RCV001656255] |
Chr1:167880089 [GRCh38]
Chr1:167849327 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1406+74C>T |
single nucleotide variant |
not provided [RCV001680290] |
Chr1:167878372 [GRCh38]
Chr1:167847610 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1462+265G>A |
single nucleotide variant |
not provided [RCV001676316] |
Chr1:167874866 [GRCh38]
Chr1:167844104 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3008-86G>C |
single nucleotide variant |
not provided [RCV001710342] |
Chr1:167837404 [GRCh38]
Chr1:167806642 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2309-222G>A |
single nucleotide variant |
not provided [RCV001716386] |
Chr1:167848711 [GRCh38]
Chr1:167817949 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1139+71G>C |
single nucleotide variant |
not provided [RCV001716431] |
Chr1:167880420 [GRCh38]
Chr1:167849658 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.828+155_828+157del |
deletion |
not provided [RCV001640079] |
Chr1:167893696..167893698 [GRCh38]
Chr1:167862934..167862936 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2172-301A>T |
single nucleotide variant |
not provided [RCV001643872] |
Chr1:167854790 [GRCh38]
Chr1:167824028 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4168+167C>A |
single nucleotide variant |
not provided [RCV001643910] |
Chr1:167822841 [GRCh38]
Chr1:167792079 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3750+163C>T |
single nucleotide variant |
not provided [RCV001716550] |
Chr1:167829104 [GRCh38]
Chr1:167798342 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.828+157del |
deletion |
not provided [RCV001621575] |
Chr1:167893696 [GRCh38]
Chr1:167862934 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2070G>A (p.Arg690=) |
single nucleotide variant |
not provided [RCV000932499] |
Chr1:167856266 [GRCh38]
Chr1:167825504 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2565G>A (p.Lys855=) |
single nucleotide variant |
ADCY10-related disorder [RCV003972891]|not provided [RCV000969982] |
Chr1:167846136 [GRCh38]
Chr1:167815374 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.4072G>T (p.Val1358Leu) |
single nucleotide variant |
not provided [RCV000919566] |
Chr1:167823104 [GRCh38]
Chr1:167792342 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4752T>C (p.Ile1584=) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002495411]|not provided [RCV000894411] |
Chr1:167809759 [GRCh38]
Chr1:167778996 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.2236C>T (p.His746Tyr) |
single nucleotide variant |
ADCY10-related disorder [RCV003906088]|not provided [RCV000974869] |
Chr1:167854425 [GRCh38]
Chr1:167823663 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.1394G>A (p.Arg465His) |
single nucleotide variant |
ADCY10-related disorder [RCV003928593]|not provided [RCV000974870] |
Chr1:167878458 [GRCh38]
Chr1:167847696 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1691T>C (p.Val564Ala) |
single nucleotide variant |
not provided [RCV000955258] |
Chr1:167860989 [GRCh38]
Chr1:167830227 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3720T>C (p.Asn1240=) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002479141]|not provided [RCV000974165] |
Chr1:167829297 [GRCh38]
Chr1:167798535 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.2182G>A (p.Glu728Lys) |
single nucleotide variant |
not provided [RCV000910456] |
Chr1:167854479 [GRCh38]
Chr1:167823717 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4558G>A (p.Val1520Ile) |
single nucleotide variant |
ADCY10-related disorder [RCV003963136]|not provided [RCV001228168] |
Chr1:167810838 [GRCh38]
Chr1:167780075 [GRCh37]
Chr1:1q24.2 |
likely benign|uncertain significance |
| NM_018417.6(ADCY10):c.3765C>T (p.Tyr1255=) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002501465]|not provided [RCV000890929] |
Chr1:167824841 [GRCh38]
Chr1:167794079 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.4052+209C>T |
single nucleotide variant |
not provided [RCV001661186] |
Chr1:167824267 [GRCh38]
Chr1:167793505 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3417+252G>A |
single nucleotide variant |
not provided [RCV001721756] |
Chr1:167833718 [GRCh38]
Chr1:167802956 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4053-301G>T |
single nucleotide variant |
not provided [RCV001637590] |
Chr1:167823424 [GRCh38]
Chr1:167792662 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3008-91A>T |
single nucleotide variant |
not provided [RCV001662878] |
Chr1:167837409 [GRCh38]
Chr1:167806647 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4053-256G>A |
single nucleotide variant |
not provided [RCV001649350] |
Chr1:167823379 [GRCh38]
Chr1:167792617 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1217-124G>T |
single nucleotide variant |
not provided [RCV001682099] |
Chr1:167878759 [GRCh38]
Chr1:167847997 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1616+75T>C |
single nucleotide variant |
not provided [RCV001682111] |
Chr1:167870182 [GRCh38]
Chr1:167839420 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3233T>C (p.Leu1078Ser) |
single nucleotide variant |
not specified [RCV004308225] |
Chr1:167836385 [GRCh38]
Chr1:167805623 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1617-167A>C |
single nucleotide variant |
not provided [RCV001608223] |
Chr1:167861230 [GRCh38]
Chr1:167830468 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1809+254A>G |
single nucleotide variant |
not provided [RCV001639565] |
Chr1:167860617 [GRCh38]
Chr1:167829855 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1616+285T>G |
single nucleotide variant |
not provided [RCV001688226] |
Chr1:167869972 [GRCh38]
Chr1:167839210 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.739+93C>T |
single nucleotide variant |
not provided [RCV001655354] |
Chr1:167896502 [GRCh38]
Chr1:167865740 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1407-245dup |
duplication |
not provided [RCV001595673] |
Chr1:167875430..167875431 [GRCh38]
Chr1:167844668..167844669 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1139+28C>T |
single nucleotide variant |
not provided [RCV001655424] |
Chr1:167880463 [GRCh38]
Chr1:167849701 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1897-41G>A |
single nucleotide variant |
not provided [RCV001638911] |
Chr1:167856480 [GRCh38]
Chr1:167825718 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2171+287G>C |
single nucleotide variant |
not provided [RCV001620359] |
Chr1:167855878 [GRCh38]
Chr1:167825116 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3077+193A>G |
single nucleotide variant |
not provided [RCV001685892] |
Chr1:167837056 [GRCh38]
Chr1:167806294 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1407-135C>T |
single nucleotide variant |
not provided [RCV001698569] |
Chr1:167875321 [GRCh38]
Chr1:167844559 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2437+189A>C |
single nucleotide variant |
not provided [RCV001677981] |
Chr1:167848172 [GRCh38]
Chr1:167817410 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3007+68A>C |
single nucleotide variant |
not provided [RCV001676576] |
Chr1:167845495 [GRCh38]
Chr1:167814733 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.254-273= |
single nucleotide variant |
not provided [RCV001686860] |
Chr1:167902327 [GRCh38]
Chr1:167871565 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1216+35T>C |
single nucleotide variant |
not provided [RCV001657281] |
Chr1:167880080 [GRCh38]
Chr1:167849318 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1463-249_1463-248dup |
duplication |
not provided [RCV001636046] |
Chr1:167870638..167870639 [GRCh38]
Chr1:167839876..167839877 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3078-87G>A |
single nucleotide variant |
not provided [RCV001598983] |
Chr1:167836627 [GRCh38]
Chr1:167805865 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1407-158G>C |
single nucleotide variant |
not provided [RCV001716026] |
Chr1:167875344 [GRCh38]
Chr1:167844582 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.149-92del |
deletion |
not provided [RCV001667806] |
Chr1:167904083 [GRCh38]
Chr1:167873321 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2309-312T>C |
single nucleotide variant |
not provided [RCV001709773] |
Chr1:167848801 [GRCh38]
Chr1:167818039 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2308+136T>C |
single nucleotide variant |
not provided [RCV001649267] |
Chr1:167854217 [GRCh38]
Chr1:167823455 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4482+278T>C |
single nucleotide variant |
not provided [RCV001679844] |
Chr1:167817794 [GRCh38]
Chr1:167787032 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4168+196G>A |
single nucleotide variant |
not provided [RCV001667318] |
Chr1:167822812 [GRCh38]
Chr1:167792050 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1463-249_1463-247dup |
duplication |
not provided [RCV001665754] |
Chr1:167870638..167870639 [GRCh38]
Chr1:167839876..167839877 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1217-82T>C |
single nucleotide variant |
not provided [RCV001680204] |
Chr1:167878717 [GRCh38]
Chr1:167847955 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.828+147_828+157del |
deletion |
not provided [RCV001680261] |
Chr1:167893696..167893706 [GRCh38]
Chr1:167862934..167862944 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2438-315A>C |
single nucleotide variant |
not provided [RCV001695816] |
Chr1:167846578 [GRCh38]
Chr1:167815816 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3751-37C>T |
single nucleotide variant |
not provided [RCV001648381] |
Chr1:167824892 [GRCh38]
Chr1:167794130 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4052+237A>G |
single nucleotide variant |
not provided [RCV001710984] |
Chr1:167824239 [GRCh38]
Chr1:167793477 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.293-79_293-78dup |
duplication |
not provided [RCV001666456] |
Chr1:167901882..167901883 [GRCh38]
Chr1:167871120..167871121 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3008-158C>T |
single nucleotide variant |
not provided [RCV001670805] |
Chr1:167837476 [GRCh38]
Chr1:167806714 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1406+36G>A |
single nucleotide variant |
not provided [RCV001645435] |
Chr1:167878410 [GRCh38]
Chr1:167847648 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2437+240C>T |
single nucleotide variant |
not provided [RCV001690879] |
Chr1:167848121 [GRCh38]
Chr1:167817359 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3078-35A>G |
single nucleotide variant |
not provided [RCV001679647] |
Chr1:167836575 [GRCh38]
Chr1:167805813 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1463-31G>A |
single nucleotide variant |
not provided [RCV001690800] |
Chr1:167870441 [GRCh38]
Chr1:167839679 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.436+95G>A |
single nucleotide variant |
not provided [RCV001696630] |
Chr1:167901567 [GRCh38]
Chr1:167870805 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.436+171A>G |
single nucleotide variant |
not provided [RCV001540658] |
Chr1:167901491 [GRCh38]
Chr1:167870729 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2101C>T (p.Gln701Ter) |
single nucleotide variant |
not provided [RCV001049797] |
Chr1:167856235 [GRCh38]
Chr1:167825473 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.3592G>A (p.Gly1198Arg) |
single nucleotide variant |
not provided [RCV001233802]|not specified [RCV004033214] |
Chr1:167832988 [GRCh38]
Chr1:167802226 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2042C>T (p.Ala681Val) |
single nucleotide variant |
ADCY10-related disorder [RCV003938570]|not provided [RCV001236033] |
Chr1:167856294 [GRCh38]
Chr1:167825532 [GRCh37]
Chr1:1q24.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_018417.6(ADCY10):c.489C>G (p.Ser163Arg) |
single nucleotide variant |
not provided [RCV001233213] |
Chr1:167899576 [GRCh38]
Chr1:167868814 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4232T>A (p.Ile1411Asn) |
single nucleotide variant |
not provided [RCV001233956] |
Chr1:167822078 [GRCh38]
Chr1:167791316 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4424A>G (p.Gln1475Arg) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002497731]|not provided [RCV001213755]|not specified [RCV004033903] |
Chr1:167818130 [GRCh38]
Chr1:167787368 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1 |
copy number loss |
not provided [RCV001258478] |
Chr1:164608682..169216098 [GRCh37]
Chr1:1q23.3-24.2 |
likely pathogenic |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_018417.6(ADCY10):c.2215G>T (p.Glu739Ter) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV001535865] |
Chr1:167854446 [GRCh38]
Chr1:167823684 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.4547T>C (p.Leu1516Pro) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002486108]|not provided [RCV001294311]|not specified [RCV004035603] |
Chr1:167810849 [GRCh38]
Chr1:167780086 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.526C>T (p.Arg176Cys) |
single nucleotide variant |
not specified [RCV004611079] |
Chr1:167899539 [GRCh38]
Chr1:167868777 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3619C>T (p.Arg1207Trp) |
single nucleotide variant |
not provided [RCV001326755]|not specified [RCV004035218] |
Chr1:167829398 [GRCh38]
Chr1:167798636 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.520G>A (p.Asp174Asn) |
single nucleotide variant |
not specified [RCV004611089] |
Chr1:167899545 [GRCh38]
Chr1:167868783 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3782ACC[2] (p.His1263del) |
microsatellite |
not provided [RCV001363187] |
Chr1:167824816..167824818 [GRCh38]
Chr1:167794054..167794056 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.149-60C>A |
single nucleotide variant |
not provided [RCV001786789] |
Chr1:167904051 [GRCh38]
Chr1:167873289 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2309-166dup |
duplication |
not provided [RCV001786659] |
Chr1:167848654..167848655 [GRCh38]
Chr1:167817892..167817893 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3667T>C (p.Tyr1223His) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002499601]|not provided [RCV001312961]|not specified [RCV004609748] |
Chr1:167829350 [GRCh38]
Chr1:167798588 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2056G>A (p.Val686Ile) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002486177]|not provided [RCV001304033] |
Chr1:167856280 [GRCh38]
Chr1:167825518 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.253+4A>G |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002504591]|not provided [RCV001361027] |
Chr1:167903883 [GRCh38]
Chr1:167873121 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2903G>C (p.Arg968Pro) |
single nucleotide variant |
not provided [RCV001373741] |
Chr1:167845667 [GRCh38]
Chr1:167814905 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.366T>A (p.Cys122Ter) |
single nucleotide variant |
Male infertility [RCV001283748] |
Chr1:167901732 [GRCh38]
Chr1:167870970 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1595T>C (p.Leu532Pro) |
single nucleotide variant |
not provided [RCV001373075]|not specified [RCV004037554] |
Chr1:167870278 [GRCh38]
Chr1:167839516 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3422G>C (p.Cys1141Ser) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002499605]|not provided [RCV001314159] |
Chr1:167833158 [GRCh38]
Chr1:167802396 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4504C>G (p.Gln1502Glu) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002476485]|not provided [RCV001318172]|not specified [RCV004034927] |
Chr1:167810892 [GRCh38]
Chr1:167780129 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4763G>C (p.Arg1588Thr) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002476464]|not provided [RCV001315245] |
Chr1:167809748 [GRCh38]
Chr1:167778985 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4816G>A (p.Val1606Met) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002504604]|not provided [RCV001366842]|not specified [RCV004036985] |
Chr1:167809695 [GRCh38]
Chr1:167778932 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.307G>T (p.Ala103Ser) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002493816]|not provided [RCV001354905] |
Chr1:167901791 [GRCh38]
Chr1:167871029 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2102A>G (p.Gln701Arg) |
single nucleotide variant |
not provided [RCV001337318] |
Chr1:167856234 [GRCh38]
Chr1:167825472 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1968T>C (p.Phe656=) |
single nucleotide variant |
not provided [RCV001510286] |
Chr1:167856368 [GRCh38]
Chr1:167825606 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.292+18G>A |
single nucleotide variant |
not provided [RCV001506153] |
Chr1:167901998 [GRCh38]
Chr1:167871236 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4058C>T (p.Pro1353Leu) |
single nucleotide variant |
not provided [RCV001511392] |
Chr1:167823118 [GRCh38]
Chr1:167792356 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.324G>A (p.Glu108=) |
single nucleotide variant |
ADCY10-related disorder [RCV003965958]|Familial idiopathic hypercalciuria [RCV002506550]|not provided [RCV001475546] |
Chr1:167901774 [GRCh38]
Chr1:167871012 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.740-10G>C |
single nucleotide variant |
not provided [RCV001485207] |
Chr1:167893951 [GRCh38]
Chr1:167863189 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.701C>T (p.Thr234Met) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002221629]|not provided [RCV001517531] |
Chr1:167896633 [GRCh38]
Chr1:167865871 [GRCh37]
Chr1:1q24.2 |
risk factor|benign |
| NM_018417.6(ADCY10):c.1616+13G>A |
single nucleotide variant |
not provided [RCV001429943] |
Chr1:167870244 [GRCh38]
Chr1:167839482 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3417+225del |
deletion |
not provided [RCV001537213] |
Chr1:167833745 [GRCh38]
Chr1:167802983 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1620T>C (p.Ile540=) |
single nucleotide variant |
not provided [RCV001410195] |
Chr1:167861060 [GRCh38]
Chr1:167830298 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4477del (p.Leu1493fs) |
deletion |
not provided [RCV001390597] |
Chr1:167818077 [GRCh38]
Chr1:167787315 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.4651T>C (p.Cys1551Arg) |
single nucleotide variant |
not provided [RCV001393702] |
Chr1:167810745 [GRCh38]
Chr1:167779982 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4168+1G>A |
single nucleotide variant |
not provided [RCV001377382] |
Chr1:167823007 [GRCh38]
Chr1:167792245 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.1902G>A (p.Val634=) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002501550]|not provided [RCV001440784] |
Chr1:167856434 [GRCh38]
Chr1:167825672 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2172-246G>T |
single nucleotide variant |
not provided [RCV001686015] |
Chr1:167854735 [GRCh38]
Chr1:167823973 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1020+20T>A |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002501820]|not provided [RCV001519322] |
Chr1:167883417 [GRCh38]
Chr1:167852655 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.*72C>T |
single nucleotide variant |
not provided [RCV001655352] |
Chr1:167809606 [GRCh38]
Chr1:167778843 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4053-321dup |
duplication |
not provided [RCV001695132] |
Chr1:167823424..167823425 [GRCh38]
Chr1:167792662..167792663 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3750+114C>T |
single nucleotide variant |
not provided [RCV001715356] |
Chr1:167829153 [GRCh38]
Chr1:167798391 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1533C>T (p.Val511=) |
single nucleotide variant |
not provided [RCV001510287] |
Chr1:167870340 [GRCh38]
Chr1:167839578 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3309+108C>T |
single nucleotide variant |
not provided [RCV001645947] |
Chr1:167836201 [GRCh38]
Chr1:167805439 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4721C>T (p.Thr1574Met) |
single nucleotide variant |
not provided [RCV001510980] |
Chr1:167809790 [GRCh38]
Chr1:167779027 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2437+218C>T |
single nucleotide variant |
not provided [RCV001695672] |
Chr1:167848143 [GRCh38]
Chr1:167817381 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3310-34A>T |
single nucleotide variant |
not provided [RCV001691564] |
Chr1:167834111 [GRCh38]
Chr1:167803349 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1406+100A>G |
single nucleotide variant |
not provided [RCV001613468] |
Chr1:167878346 [GRCh38]
Chr1:167847584 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3007+196A>G |
single nucleotide variant |
not provided [RCV001617713] |
Chr1:167845367 [GRCh38]
Chr1:167814605 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2172-167_2172-166del |
deletion |
not provided [RCV001713965] |
Chr1:167854655..167854656 [GRCh38]
Chr1:167823893..167823894 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.149-338C>T |
single nucleotide variant |
not provided [RCV001672161] |
Chr1:167904329 [GRCh38]
Chr1:167873567 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.148+229C>G |
single nucleotide variant |
not provided [RCV001678923] |
Chr1:167904764 [GRCh38]
Chr1:167874002 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1260C>T (p.Tyr420=) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002501808]|not provided [RCV001518673] |
Chr1:167878592 [GRCh38]
Chr1:167847830 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.2716+56A>G |
single nucleotide variant |
not provided [RCV001530569] |
Chr1:167845929 [GRCh38]
Chr1:167815167 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2778T>C (p.Ile926=) |
single nucleotide variant |
not provided [RCV001514594] |
Chr1:167845792 [GRCh38]
Chr1:167815030 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2438-13C>T |
single nucleotide variant |
not provided [RCV001520656] |
Chr1:167846276 [GRCh38]
Chr1:167815514 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2125A>G (p.Ile709Val) |
single nucleotide variant |
not provided [RCV001516576] |
Chr1:167856211 [GRCh38]
Chr1:167825449 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.4562G>A (p.Cys1521Tyr) |
single nucleotide variant |
not provided [RCV001510285] |
Chr1:167810834 [GRCh38]
Chr1:167780071 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4059G>T (p.Pro1353=) |
single nucleotide variant |
ADCY10-related disorder [RCV003955989]|not provided [RCV001453352] |
Chr1:167823117 [GRCh38]
Chr1:167792355 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3565C>A (p.Arg1189=) |
single nucleotide variant |
not provided [RCV001519162] |
Chr1:167833015 [GRCh38]
Chr1:167802253 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4815C>T (p.Thr1605=) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002495648]|not provided [RCV001454441] |
Chr1:167809696 [GRCh38]
Chr1:167778933 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4438G>T (p.Glu1480Ter) |
single nucleotide variant |
not provided [RCV001389209] |
Chr1:167818116 [GRCh38]
Chr1:167787354 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.2397T>C (p.Gly799=) |
single nucleotide variant |
not provided [RCV001517528] |
Chr1:167848401 [GRCh38]
Chr1:167817639 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2089A>G (p.Ile697Val) |
single nucleotide variant |
not provided [RCV001517529] |
Chr1:167856247 [GRCh38]
Chr1:167825485 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1155T>C (p.Gly385=) |
single nucleotide variant |
not provided [RCV001517530] |
Chr1:167880176 [GRCh38]
Chr1:167849414 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1668C>T (p.Thr556=) |
single nucleotide variant |
ADCY10-related disorder [RCV003956183]|Familial idiopathic hypercalciuria [RCV002495814]|not provided [RCV001517642] |
Chr1:167861012 [GRCh38]
Chr1:167830250 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.1825G>T (p.Glu609Ter) |
single nucleotide variant |
not provided [RCV001386001] |
Chr1:167859878 [GRCh38]
Chr1:167829116 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.581G>A (p.Trp194Ter) |
single nucleotide variant |
not provided [RCV001387407] |
Chr1:167899484 [GRCh38]
Chr1:167868722 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.2259A>G (p.Gln753=) |
single nucleotide variant |
not provided [RCV001454918] |
Chr1:167854402 [GRCh38]
Chr1:167823640 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3077+88T>C |
single nucleotide variant |
not provided [RCV001779629] |
Chr1:167837161 [GRCh38]
Chr1:167806399 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.828+82dup |
duplication |
not provided [RCV001774981] |
Chr1:167893770..167893771 [GRCh38]
Chr1:167863008..167863009 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3751-224T>C |
single nucleotide variant |
not provided [RCV001774983] |
Chr1:167825079 [GRCh38]
Chr1:167794317 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3750+216C>T |
single nucleotide variant |
not provided [RCV001774985] |
Chr1:167829051 [GRCh38]
Chr1:167798289 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2172-320T>C |
single nucleotide variant |
not provided [RCV001769871] |
Chr1:167854809 [GRCh38]
Chr1:167824047 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3418-155A>G |
single nucleotide variant |
not provided [RCV001774982] |
Chr1:167833317 [GRCh38]
Chr1:167802555 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3417+222_3417+225del |
deletion |
not provided [RCV001774986] |
Chr1:167833745..167833748 [GRCh38]
Chr1:167802983..167802986 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1810-21T>G |
single nucleotide variant |
not provided [RCV001759119] |
Chr1:167859914 [GRCh38]
Chr1:167829152 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.292+79G>A |
single nucleotide variant |
not provided [RCV001753166] |
Chr1:167901937 [GRCh38]
Chr1:167871175 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.293-70T>C |
single nucleotide variant |
not provided [RCV001753187] |
Chr1:167901875 [GRCh38]
Chr1:167871113 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4053-302del |
deletion |
not provided [RCV001753034] |
Chr1:167823425 [GRCh38]
Chr1:167792663 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1463-93A>G |
single nucleotide variant |
not provided [RCV001768124] |
Chr1:167870503 [GRCh38]
Chr1:167839741 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3417+224_3417+225del |
deletion |
not provided [RCV001776572] |
Chr1:167833745..167833746 [GRCh38]
Chr1:167802983..167802984 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.828+157dup |
duplication |
not provided [RCV001753165] |
Chr1:167893695..167893696 [GRCh38]
Chr1:167862933..167862934 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.229T>C (p.Tyr77His) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002507598]|not provided [RCV001929552] |
Chr1:167903911 [GRCh38]
Chr1:167873149 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4082G>A (p.Arg1361Gln) |
single nucleotide variant |
not provided [RCV001988816] |
Chr1:167823094 [GRCh38]
Chr1:167792332 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331) |
copy number loss |
not specified [RCV002053680] |
Chr1:162330810..171532331 [GRCh37]
Chr1:1q23.3-24.3 |
pathogenic |
| GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613) |
copy number loss |
not specified [RCV002053691] |
Chr1:167391422..171843613 [GRCh37]
Chr1:1q24.2-24.3 |
pathogenic |
| NM_018417.6(ADCY10):c.254-198T>C |
single nucleotide variant |
not provided [RCV001837159] |
Chr1:167902252 [GRCh38]
Chr1:167871490 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2026G>A (p.Val676Ile) |
single nucleotide variant |
not provided [RCV002003292] |
Chr1:167856310 [GRCh38]
Chr1:167825548 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.349A>G (p.Thr117Ala) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002478093]|not provided [RCV002041813] |
Chr1:167901749 [GRCh38]
Chr1:167870987 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3082G>A (p.Glu1028Lys) |
single nucleotide variant |
not provided [RCV002008219] |
Chr1:167836536 [GRCh38]
Chr1:167805774 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| GRCh37/hg19 1q24.2(chr1:167741130-168188082)x1 |
copy number loss |
not provided [RCV001834167] |
Chr1:167741130..168188082 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.952dup (p.Tyr318fs) |
duplication |
not provided [RCV001962878] |
Chr1:167883504..167883505 [GRCh38]
Chr1:167852742..167852743 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.878C>G (p.Thr293Arg) |
single nucleotide variant |
not provided [RCV002015834] |
Chr1:167883579 [GRCh38]
Chr1:167852817 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3307A>C (p.Met1103Leu) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002484470]|not provided [RCV001943206] |
Chr1:167836311 [GRCh38]
Chr1:167805549 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1401G>C (p.Glu467Asp) |
single nucleotide variant |
See cases [RCV003493886]|not provided [RCV001900781] |
Chr1:167878451 [GRCh38]
Chr1:167847689 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.758G>A (p.Cys253Tyr) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002478080]|not provided [RCV002049866] |
Chr1:167893923 [GRCh38]
Chr1:167863161 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NC_000001.10:g.(?_167863071)_(167865949_?)dup |
duplication |
not provided [RCV002018482] |
Chr1:167863071..167865949 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2278A>C (p.Lys760Gln) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002492086]|not provided [RCV001996715]|not specified [RCV004043803] |
Chr1:167854383 [GRCh38]
Chr1:167823621 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1185C>A (p.Ile395=) |
single nucleotide variant |
not provided [RCV002018909] |
Chr1:167880146 [GRCh38]
Chr1:167849384 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.651C>A (p.Phe217Leu) |
single nucleotide variant |
not provided [RCV001960538] |
Chr1:167896683 [GRCh38]
Chr1:167865921 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4317T>A (p.Phe1439Leu) |
single nucleotide variant |
not provided [RCV001981434]|not specified [RCV004043654] |
Chr1:167818237 [GRCh38]
Chr1:167787475 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4573G>A (p.Gly1525Arg) |
single nucleotide variant |
not provided [RCV001996224] |
Chr1:167810823 [GRCh38]
Chr1:167780060 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NC_000001.10:g.(?_167798485)_(167802420_?)dup |
duplication |
not provided [RCV001935106] |
Chr1:167798485..167802420 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1354G>A (p.Gly452Ser) |
single nucleotide variant |
not provided [RCV001922590] |
Chr1:167878498 [GRCh38]
Chr1:167847736 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1415G>A (p.Gly472Asp) |
single nucleotide variant |
not provided [RCV002027541] |
Chr1:167875178 [GRCh38]
Chr1:167844416 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4378T>C (p.Tyr1460His) |
single nucleotide variant |
not provided [RCV001973326] |
Chr1:167818176 [GRCh38]
Chr1:167787414 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2474C>G (p.Ser825Cys) |
single nucleotide variant |
not provided [RCV001994260] |
Chr1:167846227 [GRCh38]
Chr1:167815465 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1025G>T (p.Cys342Phe) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002503545]|not provided [RCV001898699] |
Chr1:167880605 [GRCh38]
Chr1:167849843 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.239G>A (p.Ser80Asn) |
single nucleotide variant |
not provided [RCV001884200] |
Chr1:167903901 [GRCh38]
Chr1:167873139 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.20A>C (p.Glu7Ala) |
single nucleotide variant |
ADCY10-related disorder [RCV003978469]|not provided [RCV002027808]|not specified [RCV004612115] |
Chr1:167905121 [GRCh38]
Chr1:167874359 [GRCh37]
Chr1:1q24.2 |
likely benign|uncertain significance |
| NM_018417.6(ADCY10):c.3746T>C (p.Phe1249Ser) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002486602]|not provided [RCV001991885]|not specified [RCV004045498] |
Chr1:167829271 [GRCh38]
Chr1:167798509 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.147A>C (p.Ser49=) |
single nucleotide variant |
not provided [RCV001935922] |
Chr1:167904994 [GRCh38]
Chr1:167874232 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1897A>C (p.Ile633Leu) |
single nucleotide variant |
not provided [RCV001900187] |
Chr1:167856439 [GRCh38]
Chr1:167825677 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1860A>G (p.Lys620=) |
single nucleotide variant |
not provided [RCV002128192] |
Chr1:167859843 [GRCh38]
Chr1:167829081 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2308+11C>T |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002479889]|not provided [RCV002073553] |
Chr1:167854342 [GRCh38]
Chr1:167823580 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.2438-20G>T |
single nucleotide variant |
not provided [RCV002089525] |
Chr1:167846283 [GRCh38]
Chr1:167815521 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4483-7dup |
duplication |
ADCY10-related disorder [RCV004756348]|not provided [RCV002167150] |
Chr1:167810919..167810920 [GRCh38]
Chr1:167780156..167780157 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.2308+11C>A |
single nucleotide variant |
not provided [RCV002106209] |
Chr1:167854342 [GRCh38]
Chr1:167823580 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3429T>C (p.Asn1143=) |
single nucleotide variant |
ADCY10-related disorder [RCV003978475]|Familial idiopathic hypercalciuria [RCV002507844]|not provided [RCV002087000] |
Chr1:167833151 [GRCh38]
Chr1:167802389 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3488G>T (p.Arg1163Leu) |
single nucleotide variant |
not provided [RCV002131990] |
Chr1:167833092 [GRCh38]
Chr1:167802330 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2406G>A (p.Leu802=) |
single nucleotide variant |
ADCY10-related disorder [RCV003968817]|Familial idiopathic hypercalciuria [RCV002486840]|not provided [RCV002215494] |
Chr1:167848392 [GRCh38]
Chr1:167817630 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.426A>G (p.Arg142=) |
single nucleotide variant |
not provided [RCV002212210] |
Chr1:167901672 [GRCh38]
Chr1:167870910 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.643-8T>G |
single nucleotide variant |
not provided [RCV002113631] |
Chr1:167896699 [GRCh38]
Chr1:167865937 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1021-11C>T |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV002500127]|not provided [RCV002093957] |
Chr1:167880620 [GRCh38]
Chr1:167849858 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.2308+10G>A |
single nucleotide variant |
not provided [RCV002144501] |
Chr1:167854343 [GRCh38]
Chr1:167823581 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2996A>G (p.His999Arg) |
single nucleotide variant |
not provided [RCV002163365] |
Chr1:167845574 [GRCh38]
Chr1:167814812 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.254-20A>T |
single nucleotide variant |
not provided [RCV002176192] |
Chr1:167902074 [GRCh38]
Chr1:167871312 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1926C>A (p.Ile642=) |
single nucleotide variant |
not provided [RCV002100907] |
Chr1:167856410 [GRCh38]
Chr1:167825648 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4334G>C (p.Arg1445Thr) |
single nucleotide variant |
not provided [RCV002177453] |
Chr1:167818220 [GRCh38]
Chr1:167787458 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3840G>A (p.Glu1280=) |
single nucleotide variant |
not provided [RCV002177651] |
Chr1:167824766 [GRCh38]
Chr1:167794004 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NC_000001.10:g.(?_167400918)_(168282240_?)dup |
duplication |
Immunodeficiency 25 [RCV003113961] |
Chr1:167400918..168282240 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NC_000001.10:g.(?_167817579)_(167817747_?)dup |
duplication |
not provided [RCV003119909] |
Chr1:167817579..167817747 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NC_000001.10:g.(?_167757057)_(167817727_?)dup |
duplication |
not provided [RCV003119910] |
Chr1:167757057..167817727 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1407-140G>A |
single nucleotide variant |
not provided [RCV002285714] |
Chr1:167875326 [GRCh38]
Chr1:167844564 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.512C>G (p.Ala171Gly) |
single nucleotide variant |
not specified [RCV004324073] |
Chr1:167899553 [GRCh38]
Chr1:167868791 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4168+17G>A |
single nucleotide variant |
not provided [RCV002771343] |
Chr1:167822991 [GRCh38]
Chr1:167792229 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1202G>A (p.Arg401Lys) |
single nucleotide variant |
not provided [RCV002301577] |
Chr1:167880129 [GRCh38]
Chr1:167849367 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.849G>C (p.Gln283His) |
single nucleotide variant |
not provided [RCV002295213] |
Chr1:167883608 [GRCh38]
Chr1:167852846 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1451A>G (p.Tyr484Cys) |
single nucleotide variant |
not provided [RCV002299040]|not specified [RCV004047648] |
Chr1:167875142 [GRCh38]
Chr1:167844380 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.230A>G (p.Tyr77Cys) |
single nucleotide variant |
not specified [RCV004085194] |
Chr1:167903910 [GRCh38]
Chr1:167873148 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1415G>T (p.Gly472Val) |
single nucleotide variant |
not provided [RCV002903855] |
Chr1:167875178 [GRCh38]
Chr1:167844416 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1897-12dup |
duplication |
not provided [RCV002776245] |
Chr1:167856450..167856451 [GRCh38]
Chr1:167825688..167825689 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1604G>T (p.Gly535Val) |
single nucleotide variant |
not specified [RCV004119398] |
Chr1:167870269 [GRCh38]
Chr1:167839507 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.448G>A (p.Gly150Ser) |
single nucleotide variant |
not specified [RCV004159144] |
Chr1:167899617 [GRCh38]
Chr1:167868855 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.945G>A (p.Gln315=) |
single nucleotide variant |
not provided [RCV002975416] |
Chr1:167883512 [GRCh38]
Chr1:167852750 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.4248T>C (p.Ser1416=) |
single nucleotide variant |
not provided [RCV002775013] |
Chr1:167822062 [GRCh38]
Chr1:167791300 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1372C>T (p.Pro458Ser) |
single nucleotide variant |
not specified [RCV004183929] |
Chr1:167878480 [GRCh38]
Chr1:167847718 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1780T>C (p.Cys594Arg) |
single nucleotide variant |
not provided [RCV005099116]|not specified [RCV004232227] |
Chr1:167860900 [GRCh38]
Chr1:167830138 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.828G>A (p.Gln276=) |
single nucleotide variant |
not provided [RCV002947862] |
Chr1:167893853 [GRCh38]
Chr1:167863091 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.959A>C (p.His320Pro) |
single nucleotide variant |
not specified [RCV004103641] |
Chr1:167883498 [GRCh38]
Chr1:167852736 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3875T>C (p.Ile1292Thr) |
single nucleotide variant |
not provided [RCV002994904] |
Chr1:167824731 [GRCh38]
Chr1:167793969 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.325C>T (p.Arg109Ter) |
single nucleotide variant |
not provided [RCV002971573] |
Chr1:167901773 [GRCh38]
Chr1:167871011 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.2864G>A (p.Arg955His) |
single nucleotide variant |
not provided [RCV002908719]|not specified [RCV004614254] |
Chr1:167845706 [GRCh38]
Chr1:167814944 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3961C>T (p.Arg1321Ter) |
single nucleotide variant |
not provided [RCV002947861] |
Chr1:167824567 [GRCh38]
Chr1:167793805 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.1153G>A (p.Gly385Ser) |
single nucleotide variant |
not provided [RCV002928065] |
Chr1:167880178 [GRCh38]
Chr1:167849416 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3417+15A>T |
single nucleotide variant |
not provided [RCV003020760] |
Chr1:167833955 [GRCh38]
Chr1:167803193 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3065C>T (p.Pro1022Leu) |
single nucleotide variant |
not specified [RCV004149288] |
Chr1:167837261 [GRCh38]
Chr1:167806499 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2723G>A (p.Gly908Asp) |
single nucleotide variant |
not provided [RCV005099920]|not specified [RCV004196930] |
Chr1:167845847 [GRCh38]
Chr1:167815085 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3694C>T (p.His1232Tyr) |
single nucleotide variant |
not specified [RCV004138383] |
Chr1:167829323 [GRCh38]
Chr1:167798561 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1795A>G (p.Ile599Val) |
single nucleotide variant |
not provided [RCV002570121] |
Chr1:167860885 [GRCh38]
Chr1:167830123 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1283A>G (p.Asp428Gly) |
single nucleotide variant |
not specified [RCV004074134] |
Chr1:167878569 [GRCh38]
Chr1:167847807 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2251G>A (p.Val751Ile) |
single nucleotide variant |
ADCY10-related disorder [RCV003973673]|not provided [RCV003100427] |
Chr1:167854410 [GRCh38]
Chr1:167823648 [GRCh37]
Chr1:1q24.2 |
likely benign|uncertain significance |
| NM_018417.6(ADCY10):c.2814C>T (p.Tyr938=) |
single nucleotide variant |
not provided [RCV002999265] |
Chr1:167845756 [GRCh38]
Chr1:167814994 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.801G>T (p.Lys267Asn) |
single nucleotide variant |
not specified [RCV004143174] |
Chr1:167893880 [GRCh38]
Chr1:167863118 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4681T>G (p.Tyr1561Asp) |
single nucleotide variant |
not specified [RCV004180136] |
Chr1:167809830 [GRCh38]
Chr1:167779067 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3488G>A (p.Arg1163Gln) |
single nucleotide variant |
not specified [RCV004225780] |
Chr1:167833092 [GRCh38]
Chr1:167802330 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4399A>G (p.Met1467Val) |
single nucleotide variant |
not provided [RCV002706540] |
Chr1:167818155 [GRCh38]
Chr1:167787393 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4822A>G (p.Asn1608Asp) |
single nucleotide variant |
not provided [RCV002979462] |
Chr1:167809689 [GRCh38]
Chr1:167778926 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4047C>T (p.Asn1349=) |
single nucleotide variant |
not provided [RCV002949335] |
Chr1:167824481 [GRCh38]
Chr1:167793719 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3860T>G (p.Leu1287Arg) |
single nucleotide variant |
not provided [RCV003039057] |
Chr1:167824746 [GRCh38]
Chr1:167793984 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4754T>C (p.Val1585Ala) |
single nucleotide variant |
not provided [RCV003078509]|not specified [RCV004071948] |
Chr1:167809757 [GRCh38]
Chr1:167778994 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3823G>T (p.Glu1275Ter) |
single nucleotide variant |
not provided [RCV003078539] |
Chr1:167824783 [GRCh38]
Chr1:167794021 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.4078G>A (p.Gly1360Arg) |
single nucleotide variant |
not provided [RCV002700602] |
Chr1:167823098 [GRCh38]
Chr1:167792336 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2903G>A (p.Arg968Gln) |
single nucleotide variant |
ADCY10-related disorder [RCV003973571]|not provided [RCV002957846] |
Chr1:167845667 [GRCh38]
Chr1:167814905 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3078-9T>C |
single nucleotide variant |
not provided [RCV002595572] |
Chr1:167836549 [GRCh38]
Chr1:167805787 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4030A>C (p.Arg1344=) |
single nucleotide variant |
not provided [RCV003086018] |
Chr1:167824498 [GRCh38]
Chr1:167793736 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2437+17G>A |
single nucleotide variant |
not provided [RCV002800916] |
Chr1:167848344 [GRCh38]
Chr1:167817582 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3829A>G (p.Met1277Val) |
single nucleotide variant |
not provided [RCV003023990] |
Chr1:167824777 [GRCh38]
Chr1:167794015 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4530C>G (p.Cys1510Trp) |
single nucleotide variant |
ADCY10-related disorder [RCV003410204]|not specified [RCV004194155] |
Chr1:167810866 [GRCh38]
Chr1:167780103 [GRCh37]
Chr1:1q24.2 |
likely benign|uncertain significance |
| NM_018417.6(ADCY10):c.1664A>G (p.Tyr555Cys) |
single nucleotide variant |
not provided [RCV002933215] |
Chr1:167861016 [GRCh38]
Chr1:167830254 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4053-20C>T |
single nucleotide variant |
not provided [RCV002575087] |
Chr1:167823143 [GRCh38]
Chr1:167792381 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2516C>A (p.Thr839Asn) |
single nucleotide variant |
not specified [RCV004161364] |
Chr1:167846185 [GRCh38]
Chr1:167815423 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3235G>A (p.Gly1079Arg) |
single nucleotide variant |
ADCY10-related disorder [RCV003906377]|not provided [RCV002928815] |
Chr1:167836383 [GRCh38]
Chr1:167805621 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.829-15C>T |
single nucleotide variant |
not provided [RCV002573738] |
Chr1:167883643 [GRCh38]
Chr1:167852881 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.1052C>G (p.Pro351Arg) |
single nucleotide variant |
not specified [RCV004114618] |
Chr1:167880578 [GRCh38]
Chr1:167849816 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3855C>T (p.Leu1285=) |
single nucleotide variant |
not provided [RCV002741794] |
Chr1:167824751 [GRCh38]
Chr1:167793989 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2189G>A (p.Ser730Asn) |
single nucleotide variant |
not specified [RCV004160260] |
Chr1:167854472 [GRCh38]
Chr1:167823710 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2955C>T (p.Asn985=) |
single nucleotide variant |
not provided [RCV002953873] |
Chr1:167845615 [GRCh38]
Chr1:167814853 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4147T>C (p.Leu1383=) |
single nucleotide variant |
not provided [RCV002643158] |
Chr1:167823029 [GRCh38]
Chr1:167792267 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1626C>G (p.Ala542=) |
single nucleotide variant |
not provided [RCV003059029] |
Chr1:167861054 [GRCh38]
Chr1:167830292 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.739+18A>G |
single nucleotide variant |
not provided [RCV002663582] |
Chr1:167896577 [GRCh38]
Chr1:167865815 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.497T>A (p.Leu166Gln) |
single nucleotide variant |
not provided [RCV003040303] |
Chr1:167899568 [GRCh38]
Chr1:167868806 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.534C>A (p.Ala178=) |
single nucleotide variant |
not provided [RCV002765771] |
Chr1:167899531 [GRCh38]
Chr1:167868769 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1199T>C (p.Val400Ala) |
single nucleotide variant |
not specified [RCV004200440] |
Chr1:167880132 [GRCh38]
Chr1:167849370 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4615C>T (p.Arg1539Trp) |
single nucleotide variant |
not provided [RCV003004986] |
Chr1:167810781 [GRCh38]
Chr1:167780018 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1207G>A (p.Glu403Lys) |
single nucleotide variant |
not specified [RCV004200535] |
Chr1:167880124 [GRCh38]
Chr1:167849362 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1934A>G (p.Glu645Gly) |
single nucleotide variant |
not provided [RCV002745581] |
Chr1:167856402 [GRCh38]
Chr1:167825640 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1311A>T (p.Leu437=) |
single nucleotide variant |
not provided [RCV002624373] |
Chr1:167878541 [GRCh38]
Chr1:167847779 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3085G>A (p.Glu1029Lys) |
single nucleotide variant |
not provided [RCV003561128]|not specified [RCV004181746] |
Chr1:167836533 [GRCh38]
Chr1:167805771 [GRCh37]
Chr1:1q24.2 |
likely benign|uncertain significance |
| NM_018417.6(ADCY10):c.3433G>A (p.Gly1145Ser) |
single nucleotide variant |
not specified [RCV004103893] |
Chr1:167833147 [GRCh38]
Chr1:167802385 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2404C>A (p.Leu802Met) |
single nucleotide variant |
not provided [RCV003491293]|not specified [RCV004193467] |
Chr1:167848394 [GRCh38]
Chr1:167817632 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2353C>A (p.His785Asn) |
single nucleotide variant |
not provided [RCV002663326]|not specified [RCV004066789] |
Chr1:167848445 [GRCh38]
Chr1:167817683 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3947T>C (p.Ile1316Thr) |
single nucleotide variant |
not provided [RCV002572484] |
Chr1:167824659 [GRCh38]
Chr1:167793897 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1021-13C>G |
single nucleotide variant |
not provided [RCV002575668] |
Chr1:167880622 [GRCh38]
Chr1:167849860 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.3856C>T (p.Pro1286Ser) |
single nucleotide variant |
not provided [RCV003023115] |
Chr1:167824750 [GRCh38]
Chr1:167793988 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1937C>G (p.Ala646Gly) |
single nucleotide variant |
not provided [RCV003042521] |
Chr1:167856399 [GRCh38]
Chr1:167825637 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3565C>T (p.Arg1189Trp) |
single nucleotide variant |
not provided [RCV002933629] |
Chr1:167833015 [GRCh38]
Chr1:167802253 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3931C>A (p.His1311Asn) |
single nucleotide variant |
not specified [RCV004172665] |
Chr1:167824675 [GRCh38]
Chr1:167793913 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3078-3C>T |
single nucleotide variant |
not provided [RCV002630725] |
Chr1:167836543 [GRCh38]
Chr1:167805781 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3812G>T (p.Trp1271Leu) |
single nucleotide variant |
not provided [RCV003046434] |
Chr1:167824794 [GRCh38]
Chr1:167794032 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2779C>T (p.Arg927Ter) |
single nucleotide variant |
not provided [RCV002647081] |
Chr1:167845791 [GRCh38]
Chr1:167815029 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.3921C>T (p.Leu1307=) |
single nucleotide variant |
not provided [RCV002630560] |
Chr1:167824685 [GRCh38]
Chr1:167793923 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.423C>T (p.Ile141=) |
single nucleotide variant |
not provided [RCV002962156] |
Chr1:167901675 [GRCh38]
Chr1:167870913 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4220A>G (p.Glu1407Gly) |
single nucleotide variant |
ADCY10-related disorder [RCV003961304]|not provided [RCV002962238] |
Chr1:167822090 [GRCh38]
Chr1:167791328 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.1216+15C>T |
single nucleotide variant |
not provided [RCV002580034] |
Chr1:167880100 [GRCh38]
Chr1:167849338 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3225T>C (p.Phe1075=) |
single nucleotide variant |
not provided [RCV003063739] |
Chr1:167836393 [GRCh38]
Chr1:167805631 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.437-8C>G |
single nucleotide variant |
not provided [RCV002577280] |
Chr1:167899636 [GRCh38]
Chr1:167868874 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.105T>C (p.Phe35=) |
single nucleotide variant |
not provided [RCV003044640] |
Chr1:167905036 [GRCh38]
Chr1:167874274 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4168+10G>A |
single nucleotide variant |
not provided [RCV002631071] |
Chr1:167822998 [GRCh38]
Chr1:167792236 [GRCh37]
Chr1:1q24.2 |
likely benign|uncertain significance |
| NM_018417.6(ADCY10):c.3799T>G (p.Tyr1267Asp) |
single nucleotide variant |
not provided [RCV002601458] |
Chr1:167824807 [GRCh38]
Chr1:167794045 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2167G>A (p.Asp723Asn) |
single nucleotide variant |
not specified [RCV004120542] |
Chr1:167856169 [GRCh38]
Chr1:167825407 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1355G>T (p.Gly452Val) |
single nucleotide variant |
not provided [RCV003044478] |
Chr1:167878497 [GRCh38]
Chr1:167847735 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1307A>G (p.Asn436Ser) |
single nucleotide variant |
not provided [RCV003030011] |
Chr1:167878545 [GRCh38]
Chr1:167847783 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3558T>C (p.Tyr1186=) |
single nucleotide variant |
not provided [RCV002966935] |
Chr1:167833022 [GRCh38]
Chr1:167802260 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.253+1G>A |
single nucleotide variant |
not provided [RCV002810988] |
Chr1:167903886 [GRCh38]
Chr1:167873124 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.4444T>A (p.Ser1482Thr) |
single nucleotide variant |
not specified [RCV004151324] |
Chr1:167818110 [GRCh38]
Chr1:167787348 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1090G>A (p.Glu364Lys) |
single nucleotide variant |
not provided [RCV003045494] |
Chr1:167880540 [GRCh38]
Chr1:167849778 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.586C>T (p.Leu196Phe) |
single nucleotide variant |
not specified [RCV004209213] |
Chr1:167899479 [GRCh38]
Chr1:167868717 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3354C>T (p.Leu1118=) |
single nucleotide variant |
not provided [RCV002600446] |
Chr1:167834033 [GRCh38]
Chr1:167803271 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2397_2398inv (p.Val800Ile) |
inversion |
not provided [RCV002603406] |
Chr1:167848400..167848401 [GRCh38]
Chr1:167817638..167817639 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4430A>G (p.Gln1477Arg) |
single nucleotide variant |
not provided [RCV002603877] |
Chr1:167818124 [GRCh38]
Chr1:167787362 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1373C>G (p.Pro458Arg) |
single nucleotide variant |
not provided [RCV002942446] |
Chr1:167878479 [GRCh38]
Chr1:167847717 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1275G>A (p.Val425=) |
single nucleotide variant |
not provided [RCV002583259] |
Chr1:167878577 [GRCh38]
Chr1:167847815 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4814C>T (p.Thr1605Ile) |
single nucleotide variant |
not specified [RCV004080402] |
Chr1:167809697 [GRCh38]
Chr1:167778934 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2859T>A (p.Cys953Ter) |
single nucleotide variant |
not provided [RCV003069125] |
Chr1:167845711 [GRCh38]
Chr1:167814949 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.2215G>C (p.Glu739Gln) |
single nucleotide variant |
not specified [RCV004095026] |
Chr1:167854446 [GRCh38]
Chr1:167823684 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1164T>C (p.Ser388=) |
single nucleotide variant |
not provided [RCV002609551] |
Chr1:167880167 [GRCh38]
Chr1:167849405 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1809+19A>T |
single nucleotide variant |
not provided [RCV002586106] |
Chr1:167860852 [GRCh38]
Chr1:167830090 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2956G>A (p.Ala986Thr) |
single nucleotide variant |
not provided [RCV002608762] |
Chr1:167845614 [GRCh38]
Chr1:167814852 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4212C>T (p.His1404=) |
single nucleotide variant |
ADCY10-related disorder [RCV003898822]|not provided [RCV002585358] |
Chr1:167822098 [GRCh38]
Chr1:167791336 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4175T>C (p.Val1392Ala) |
single nucleotide variant |
not provided [RCV002603251]|not specified [RCV004614367] |
Chr1:167822135 [GRCh38]
Chr1:167791373 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2548C>A (p.Pro850Thr) |
single nucleotide variant |
not provided [RCV002721597] |
Chr1:167846153 [GRCh38]
Chr1:167815391 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2897A>G (p.His966Arg) |
single nucleotide variant |
not provided [RCV002584108] |
Chr1:167845673 [GRCh38]
Chr1:167814911 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1970T>G (p.Met657Arg) |
single nucleotide variant |
not provided [RCV002725365] |
Chr1:167856366 [GRCh38]
Chr1:167825604 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2308+12G>A |
single nucleotide variant |
not provided [RCV002604216] |
Chr1:167854341 [GRCh38]
Chr1:167823579 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1580T>C (p.Met527Thr) |
single nucleotide variant |
not provided [RCV003561270]|not specified [RCV004294055] |
Chr1:167870293 [GRCh38]
Chr1:167839531 [GRCh37]
Chr1:1q24.2 |
likely benign|uncertain significance |
| NM_018417.6(ADCY10):c.4055A>G (p.Tyr1352Cys) |
single nucleotide variant |
not provided [RCV005101196]|not specified [RCV004253812] |
Chr1:167823121 [GRCh38]
Chr1:167792359 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2623A>G (p.Asn875Asp) |
single nucleotide variant |
not specified [RCV004284776] |
Chr1:167846078 [GRCh38]
Chr1:167815316 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4384G>A (p.Gly1462Arg) |
single nucleotide variant |
not specified [RCV004251173] |
Chr1:167818170 [GRCh38]
Chr1:167787408 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3349A>T (p.Thr1117Ser) |
single nucleotide variant |
not provided [RCV003779621]|not specified [RCV004251529] |
Chr1:167834038 [GRCh38]
Chr1:167803276 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2414T>A (p.Leu805Gln) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV003338070] |
Chr1:167848384 [GRCh38]
Chr1:167817622 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.257T>C (p.Val86Ala) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV003337930] |
Chr1:167902051 [GRCh38]
Chr1:167871289 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4287G>C (p.Trp1429Cys) |
single nucleotide variant |
not provided [RCV005104137]|not specified [RCV004355221] |
Chr1:167818267 [GRCh38]
Chr1:167787505 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2848C>A (p.His950Asn) |
single nucleotide variant |
not specified [RCV004358188] |
Chr1:167845722 [GRCh38]
Chr1:167814960 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2425A>G (p.Thr809Ala) |
single nucleotide variant |
not specified [RCV004362225] |
Chr1:167848373 [GRCh38]
Chr1:167817611 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1385A>G (p.Tyr462Cys) |
single nucleotide variant |
not provided [RCV003720856]|not specified [RCV004341720] |
Chr1:167878467 [GRCh38]
Chr1:167847705 [GRCh37]
Chr1:1q24.2 |
likely benign|uncertain significance |
| NM_018417.6(ADCY10):c.3898G>A (p.Glu1300Lys) |
single nucleotide variant |
not specified [RCV004354863] |
Chr1:167824708 [GRCh38]
Chr1:167793946 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2971G>T (p.Ala991Ser) |
single nucleotide variant |
not provided [RCV003489530] |
Chr1:167845599 [GRCh38]
Chr1:167814837 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.889G>A (p.Val297Met) |
single nucleotide variant |
not provided [RCV003571357] |
Chr1:167883568 [GRCh38]
Chr1:167852806 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4531C>A (p.Pro1511Thr) |
single nucleotide variant |
not provided [RCV003570277] |
Chr1:167810865 [GRCh38]
Chr1:167780102 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2437+20C>T |
single nucleotide variant |
not provided [RCV003825891] |
Chr1:167848341 [GRCh38]
Chr1:167817579 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.402G>A (p.Glu134=) |
single nucleotide variant |
not provided [RCV003571686] |
Chr1:167901696 [GRCh38]
Chr1:167870934 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.253+13A>G |
single nucleotide variant |
not provided [RCV003543739] |
Chr1:167903874 [GRCh38]
Chr1:167873112 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3501C>T (p.Tyr1167=) |
single nucleotide variant |
not provided [RCV003570251] |
Chr1:167833079 [GRCh38]
Chr1:167802317 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.82C>G (p.His28Asp) |
single nucleotide variant |
not provided [RCV003571676] |
Chr1:167905059 [GRCh38]
Chr1:167874297 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1 |
copy number loss |
not provided [RCV003483966] |
Chr1:164571371..175708060 [GRCh37]
Chr1:1q23.3-25.1 |
pathogenic |
| NM_018417.6(ADCY10):c.2585C>G (p.Ala862Gly) |
single nucleotide variant |
not provided [RCV003489531] |
Chr1:167846116 [GRCh38]
Chr1:167815354 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.386T>C (p.Leu129Ser) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV003388970] |
Chr1:167901712 [GRCh38]
Chr1:167870950 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1933G>A (p.Glu645Lys) |
single nucleotide variant |
ADCY10-related disorder [RCV003403099] |
Chr1:167856403 [GRCh38]
Chr1:167825641 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3833C>A (p.Ala1278Asp) |
single nucleotide variant |
ADCY10-related disorder [RCV003412506]|not provided [RCV005099993] |
Chr1:167824773 [GRCh38]
Chr1:167794011 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1021-8C>T |
single nucleotide variant |
not provided [RCV003409224] |
Chr1:167880617 [GRCh38]
Chr1:167849855 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1217-12T>A |
single nucleotide variant |
not provided [RCV003694630] |
Chr1:167878647 [GRCh38]
Chr1:167847885 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1217-20C>A |
single nucleotide variant |
not provided [RCV003694631] |
Chr1:167878655 [GRCh38]
Chr1:167847893 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2863C>A (p.Arg955Ser) |
single nucleotide variant |
not provided [RCV003849171] |
Chr1:167845707 [GRCh38]
Chr1:167814945 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1625C>T (p.Ala542Val) |
single nucleotide variant |
not provided [RCV003694227] |
Chr1:167861055 [GRCh38]
Chr1:167830293 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4817T>G (p.Val1606Gly) |
single nucleotide variant |
not provided [RCV003691196] |
Chr1:167809694 [GRCh38]
Chr1:167778931 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1823G>A (p.Arg608Gln) |
single nucleotide variant |
not provided [RCV003575966] |
Chr1:167859880 [GRCh38]
Chr1:167829118 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2136C>T (p.Asp712=) |
single nucleotide variant |
not provided [RCV003661093] |
Chr1:167856200 [GRCh38]
Chr1:167825438 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1793A>G (p.Asp598Gly) |
single nucleotide variant |
not provided [RCV003824621] |
Chr1:167860887 [GRCh38]
Chr1:167830125 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2348C>G (p.Thr783Ser) |
single nucleotide variant |
not provided [RCV003713141] |
Chr1:167848450 [GRCh38]
Chr1:167817688 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3593+10_3593+11insA |
insertion |
not provided [RCV003829085] |
Chr1:167832976..167832977 [GRCh38]
Chr1:167802214..167802215 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4669A>T (p.Lys1557Ter) |
single nucleotide variant |
not provided [RCV003715143] |
Chr1:167810727 [GRCh38]
Chr1:167779964 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1787T>C (p.Leu596Pro) |
single nucleotide variant |
not provided [RCV003489527] |
Chr1:167860893 [GRCh38]
Chr1:167830131 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3193_3302dup (p.Asn1101delinsLysArgLeuSerSerCysLeuTrpProThrIlePheTrpLeuTrpGluLysMetThrLysProTyrIleThrSerTer) |
duplication |
not provided [RCV003575283] |
Chr1:167836315..167836316 [GRCh38]
Chr1:167805553..167805554 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.595C>T (p.Arg199Trp) |
single nucleotide variant |
not provided [RCV003881031]|not specified [RCV005063205] |
Chr1:167899470 [GRCh38]
Chr1:167868708 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.710T>C (p.Met237Thr) |
single nucleotide variant |
not provided [RCV003489528] |
Chr1:167896624 [GRCh38]
Chr1:167865862 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4483-12_4484del |
deletion |
not provided [RCV003489529] |
Chr1:167810912..167810925 [GRCh38]
Chr1:167780149..167780162 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1996A>G (p.Ile666Val) |
single nucleotide variant |
not provided [RCV003881101] |
Chr1:167856340 [GRCh38]
Chr1:167825578 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.149-11A>G |
single nucleotide variant |
not provided [RCV003660524] |
Chr1:167904002 [GRCh38]
Chr1:167873240 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1617-6A>C |
single nucleotide variant |
not provided [RCV003712802] |
Chr1:167861069 [GRCh38]
Chr1:167830307 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2741G>A (p.Arg914His) |
single nucleotide variant |
not provided [RCV003692908]|not specified [RCV004897811] |
Chr1:167845829 [GRCh38]
Chr1:167815067 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2576A>G (p.Lys859Arg) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV005208414] |
Chr1:167846125 [GRCh38]
Chr1:167815363 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2948G>A (p.Arg983Gln) |
single nucleotide variant |
not provided [RCV003851748]|not specified [RCV004369502] |
Chr1:167845622 [GRCh38]
Chr1:167814860 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1196C>T (p.Thr399Ile) |
single nucleotide variant |
not provided [RCV003664821] |
Chr1:167880135 [GRCh38]
Chr1:167849373 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.705C>T (p.Thr235=) |
single nucleotide variant |
not provided [RCV003835651] |
Chr1:167896629 [GRCh38]
Chr1:167865867 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3626C>T (p.Thr1209Ile) |
single nucleotide variant |
not provided [RCV003548470] |
Chr1:167829391 [GRCh38]
Chr1:167798629 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2766G>A (p.Glu922=) |
single nucleotide variant |
not provided [RCV003561488] |
Chr1:167845804 [GRCh38]
Chr1:167815042 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3147C>T (p.Asp1049=) |
single nucleotide variant |
not provided [RCV003812123] |
Chr1:167836471 [GRCh38]
Chr1:167805709 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1839G>A (p.Met613Ile) |
single nucleotide variant |
not provided [RCV003817605] |
Chr1:167859864 [GRCh38]
Chr1:167829102 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3007+2T>C |
single nucleotide variant |
not provided [RCV003726474] |
Chr1:167845561 [GRCh38]
Chr1:167814799 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.3864A>C (p.Lys1288Asn) |
single nucleotide variant |
not provided [RCV003561644] |
Chr1:167824742 [GRCh38]
Chr1:167793980 [GRCh37]
Chr1:1q24.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_018417.6(ADCY10):c.331C>G (p.Gln111Glu) |
single nucleotide variant |
not provided [RCV003580875] |
Chr1:167901767 [GRCh38]
Chr1:167871005 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4628C>T (p.Thr1543Ile) |
single nucleotide variant |
not provided [RCV003854787] |
Chr1:167810768 [GRCh38]
Chr1:167780005 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1362A>T (p.Ala454=) |
single nucleotide variant |
ADCY10-related disorder [RCV003929315]|not provided [RCV003725911] |
Chr1:167878490 [GRCh38]
Chr1:167847728 [GRCh37]
Chr1:1q24.2 |
benign|likely benign |
| NM_018417.6(ADCY10):c.28G>C (p.Asp10His) |
single nucleotide variant |
not provided [RCV003702297] |
Chr1:167905113 [GRCh38]
Chr1:167874351 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1206C>T (p.His402=) |
single nucleotide variant |
not provided [RCV003725061] |
Chr1:167880125 [GRCh38]
Chr1:167849363 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.2938G>A (p.Val980Met) |
single nucleotide variant |
not provided [RCV003669044] |
Chr1:167845632 [GRCh38]
Chr1:167814870 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.27G>A (p.Gln9=) |
single nucleotide variant |
not provided [RCV003838052] |
Chr1:167905114 [GRCh38]
Chr1:167874352 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3955+17C>G |
single nucleotide variant |
not provided [RCV003839091] |
Chr1:167824634 [GRCh38]
Chr1:167793872 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4227C>A (p.Asn1409Lys) |
single nucleotide variant |
not provided [RCV003725191] |
Chr1:167822083 [GRCh38]
Chr1:167791321 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3310-18T>A |
single nucleotide variant |
not provided [RCV003838051] |
Chr1:167834095 [GRCh38]
Chr1:167803333 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1378T>C (p.Tyr460His) |
single nucleotide variant |
not provided [RCV003668058] |
Chr1:167878474 [GRCh38]
Chr1:167847712 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3310-17_3310-13del |
deletion |
not provided [RCV003838050] |
Chr1:167834090..167834094 [GRCh38]
Chr1:167803328..167803332 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.702G>A (p.Thr234=) |
single nucleotide variant |
not provided [RCV003835460] |
Chr1:167896632 [GRCh38]
Chr1:167865870 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4441C>G (p.Gln1481Glu) |
single nucleotide variant |
not provided [RCV003559987] |
Chr1:167818113 [GRCh38]
Chr1:167787351 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4081C>T (p.Arg1361Trp) |
single nucleotide variant |
not provided [RCV003559145] |
Chr1:167823095 [GRCh38]
Chr1:167792333 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3326A>G (p.Asn1109Ser) |
single nucleotide variant |
not provided [RCV003666125] |
Chr1:167834061 [GRCh38]
Chr1:167803299 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2141A>G (p.Asn714Ser) |
single nucleotide variant |
not provided [RCV003727172] |
Chr1:167856195 [GRCh38]
Chr1:167825433 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3079C>T (p.Pro1027Ser) |
single nucleotide variant |
not provided [RCV003551194] |
Chr1:167836539 [GRCh38]
Chr1:167805777 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3618C>T (p.Tyr1206=) |
single nucleotide variant |
not provided [RCV003847104] |
Chr1:167829399 [GRCh38]
Chr1:167798637 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2525C>G (p.Thr842Ser) |
single nucleotide variant |
not provided [RCV003553480] |
Chr1:167846176 [GRCh38]
Chr1:167815414 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2916C>T (p.Phe972=) |
single nucleotide variant |
not provided [RCV003681583] |
Chr1:167845654 [GRCh38]
Chr1:167814892 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3650G>A (p.Arg1217His) |
single nucleotide variant |
not provided [RCV003870757] |
Chr1:167829367 [GRCh38]
Chr1:167798605 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3171T>C (p.Ser1057=) |
single nucleotide variant |
not provided [RCV003722270] |
Chr1:167836447 [GRCh38]
Chr1:167805685 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.292+6G>A |
single nucleotide variant |
not provided [RCV003823164] |
Chr1:167902010 [GRCh38]
Chr1:167871248 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1071C>T (p.Asp357=) |
single nucleotide variant |
not provided [RCV003723006] |
Chr1:167880559 [GRCh38]
Chr1:167849797 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2372AAG[1] (p.Glu792del) |
microsatellite |
not provided [RCV003732158] |
Chr1:167848421..167848423 [GRCh38]
Chr1:167817659..167817661 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1896+5G>C |
single nucleotide variant |
not provided [RCV003554812] |
Chr1:167859802 [GRCh38]
Chr1:167829040 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3007+7T>C |
single nucleotide variant |
not provided [RCV003676778] |
Chr1:167845556 [GRCh38]
Chr1:167814794 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1490T>A (p.Met497Lys) |
single nucleotide variant |
not provided [RCV003722801] |
Chr1:167870383 [GRCh38]
Chr1:167839621 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2893G>T (p.Asp965Tyr) |
single nucleotide variant |
not provided [RCV003858327] |
Chr1:167845677 [GRCh38]
Chr1:167814915 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.697dup (p.Cys233fs) |
duplication |
not provided [RCV003566945] |
Chr1:167896636..167896637 [GRCh38]
Chr1:167865874..167865875 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.3750+1G>A |
single nucleotide variant |
not provided [RCV003847921] |
Chr1:167829266 [GRCh38]
Chr1:167798504 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.3148G>A (p.Glu1050Lys) |
single nucleotide variant |
not provided [RCV003823750] |
Chr1:167836470 [GRCh38]
Chr1:167805708 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4383C>T (p.Asp1461=) |
single nucleotide variant |
not provided [RCV003552327] |
Chr1:167818171 [GRCh38]
Chr1:167787409 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1119C>T (p.Cys373=) |
single nucleotide variant |
not provided [RCV003551258] |
Chr1:167880511 [GRCh38]
Chr1:167849749 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2620C>T (p.Arg874Trp) |
single nucleotide variant |
not provided [RCV003735551] |
Chr1:167846081 [GRCh38]
Chr1:167815319 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2931C>T (p.His977=) |
single nucleotide variant |
not provided [RCV003843139] |
Chr1:167845639 [GRCh38]
Chr1:167814877 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3140C>T (p.Thr1047Ile) |
single nucleotide variant |
not provided [RCV003844460] |
Chr1:167836478 [GRCh38]
Chr1:167805716 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4483-7del |
deletion |
not provided [RCV003818461] |
Chr1:167810920 [GRCh38]
Chr1:167780157 [GRCh37]
Chr1:1q24.2 |
benign |
| NM_018417.6(ADCY10):c.369C>G (p.Ser123Arg) |
single nucleotide variant |
not provided [RCV003728411] |
Chr1:167901729 [GRCh38]
Chr1:167870967 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4647G>T (p.Glu1549Asp) |
single nucleotide variant |
not provided [RCV003554761] |
Chr1:167810749 [GRCh38]
Chr1:167779986 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1023C>T (p.Gly341=) |
single nucleotide variant |
not provided [RCV003857245] |
Chr1:167880607 [GRCh38]
Chr1:167849845 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2241T>A (p.His747Gln) |
single nucleotide variant |
not provided [RCV003562677] |
Chr1:167854420 [GRCh38]
Chr1:167823658 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2724T>G (p.Gly908=) |
single nucleotide variant |
not provided [RCV003857403] |
Chr1:167845846 [GRCh38]
Chr1:167815084 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4715T>C (p.Leu1572Pro) |
single nucleotide variant |
not provided [RCV003842323]|not specified [RCV004897821] |
Chr1:167809796 [GRCh38]
Chr1:167779033 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4052+2T>C |
single nucleotide variant |
not provided [RCV003550982] |
Chr1:167824474 [GRCh38]
Chr1:167793712 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.213G>A (p.Leu71=) |
single nucleotide variant |
ADCY10-related disorder [RCV003951525] |
Chr1:167903927 [GRCh38]
Chr1:167873165 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3297T>G (p.Cys1099Trp) |
single nucleotide variant |
not specified [RCV004368139] |
Chr1:167836321 [GRCh38]
Chr1:167805559 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4049G>A (p.Ser1350Asn) |
single nucleotide variant |
not specified [RCV004368176] |
Chr1:167824479 [GRCh38]
Chr1:167793717 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4713G>C (p.Trp1571Cys) |
single nucleotide variant |
not specified [RCV004368217] |
Chr1:167809798 [GRCh38]
Chr1:167779035 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4769A>T (p.Asn1590Ile) |
single nucleotide variant |
not specified [RCV004368220] |
Chr1:167809742 [GRCh38]
Chr1:167778979 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.767A>G (p.Lys256Arg) |
single nucleotide variant |
not specified [RCV004368248] |
Chr1:167893914 [GRCh38]
Chr1:167863152 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1489A>T (p.Met497Leu) |
single nucleotide variant |
not specified [RCV004368041] |
Chr1:167870384 [GRCh38]
Chr1:167839622 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2061A>G (p.Ile687Met) |
single nucleotide variant |
not specified [RCV004368071] |
Chr1:167856275 [GRCh38]
Chr1:167825513 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3207G>C (p.Leu1069Phe) |
single nucleotide variant |
not specified [RCV004368138] |
Chr1:167836411 [GRCh38]
Chr1:167805649 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.761C>T (p.Thr254Met) |
single nucleotide variant |
not specified [RCV004368246] |
Chr1:167893920 [GRCh38]
Chr1:167863158 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.163A>T (p.Thr55Ser) |
single nucleotide variant |
not specified [RCV004368056] |
Chr1:167903977 [GRCh38]
Chr1:167873215 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2933T>C (p.Phe978Ser) |
single nucleotide variant |
not specified [RCV004368121] |
Chr1:167845637 [GRCh38]
Chr1:167814875 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4244A>T (p.His1415Leu) |
single nucleotide variant |
not specified [RCV004368183] |
Chr1:167822066 [GRCh38]
Chr1:167791304 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2121C>A (p.Asn707Lys) |
single nucleotide variant |
not specified [RCV004368075] |
Chr1:167856215 [GRCh38]
Chr1:167825453 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4292C>T (p.Ala1431Val) |
single nucleotide variant |
not specified [RCV004368188] |
Chr1:167818262 [GRCh38]
Chr1:167787500 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2430del (p.Ser810_Leu811insTer) |
deletion |
Familial idiopathic hypercalciuria [RCV004555403] |
Chr1:167848368 [GRCh38]
Chr1:167817606 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.1810-9T>G |
single nucleotide variant |
ADCY10-related disorder [RCV003964663] |
Chr1:167859902 [GRCh38]
Chr1:167829140 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4136A>G (p.Tyr1379Cys) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV004555739]|not provided [RCV005059529] |
Chr1:167823040 [GRCh38]
Chr1:167792278 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.293-20C>T |
single nucleotide variant |
ADCY10-related disorder [RCV003976834] |
Chr1:167901825 [GRCh38]
Chr1:167871063 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.878C>T (p.Thr293Met) |
single nucleotide variant |
not specified [RCV004368253] |
Chr1:167883579 [GRCh38]
Chr1:167852817 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2992T>C (p.Ser998Pro) |
single nucleotide variant |
not specified [RCV004368131] |
Chr1:167845578 [GRCh38]
Chr1:167814816 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NC_000001.10:g.(?_167823571)_(167823747_?)del |
deletion |
not provided [RCV004579178] |
Chr1:167823571..167823747 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NC_000001.10:g.(?_167798485)_(167798681_?)del |
deletion |
not provided [RCV004579179] |
Chr1:167798485..167798681 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.1937C>T (p.Ala646Val) |
single nucleotide variant |
not specified [RCV004611095] |
Chr1:167856399 [GRCh38]
Chr1:167825637 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2098G>A (p.Val700Ile) |
single nucleotide variant |
not specified [RCV004611114] |
Chr1:167856238 [GRCh38]
Chr1:167825476 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2855A>T (p.Lys952Ile) |
single nucleotide variant |
not specified [RCV004611121] |
Chr1:167845715 [GRCh38]
Chr1:167814953 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3962G>A (p.Arg1321Gln) |
single nucleotide variant |
not provided [RCV004793955] |
Chr1:167824566 [GRCh38]
Chr1:167793804 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2235_2237del (p.Glu745_His746delinsAsp) |
deletion |
not provided [RCV004793965] |
Chr1:167854424..167854426 [GRCh38]
Chr1:167823662..167823664 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1572del (p.Ile525fs) |
deletion |
ADCY10-related disorder [RCV004732011] |
Chr1:167870301 [GRCh38]
Chr1:167839539 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.3760G>T (p.Ala1254Ser) |
single nucleotide variant |
Familial idiopathic hypercalciuria [RCV005050244] |
Chr1:167824846 [GRCh38]
Chr1:167794084 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3510C>T (p.Ile1170=) |
single nucleotide variant |
not provided [RCV005087801] |
Chr1:167833070 [GRCh38]
Chr1:167802308 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3649C>T (p.Arg1217Cys) |
single nucleotide variant |
not provided [RCV005060762] |
Chr1:167829368 [GRCh38]
Chr1:167798606 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3094dup (p.Glu1032fs) |
duplication |
not provided [RCV005067751] |
Chr1:167836523..167836524 [GRCh38]
Chr1:167805761..167805762 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.1358T>C (p.Val453Ala) |
single nucleotide variant |
not provided [RCV005067769] |
Chr1:167878494 [GRCh38]
Chr1:167847732 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4259T>C (p.Leu1420Pro) |
single nucleotide variant |
not provided [RCV005060469] |
Chr1:167822051 [GRCh38]
Chr1:167791289 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1376T>C (p.Leu459Ser) |
single nucleotide variant |
not provided [RCV005175845] |
Chr1:167878476 [GRCh38]
Chr1:167847714 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1932T>A (p.Asp644Glu) |
single nucleotide variant |
not provided [RCV005174999] |
Chr1:167856404 [GRCh38]
Chr1:167825642 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3077+16A>G |
single nucleotide variant |
not provided [RCV005088198] |
Chr1:167837233 [GRCh38]
Chr1:167806471 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3309+16C>T |
single nucleotide variant |
not provided [RCV005064258] |
Chr1:167836293 [GRCh38]
Chr1:167805531 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3440T>A (p.Ile1147Lys) |
single nucleotide variant |
not specified [RCV004904935] |
Chr1:167833140 [GRCh38]
Chr1:167802378 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3243T>A (p.Asn1081Lys) |
single nucleotide variant |
not specified [RCV004904954] |
Chr1:167836375 [GRCh38]
Chr1:167805613 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2466G>A (p.Met822Ile) |
single nucleotide variant |
not specified [RCV004343535] |
Chr1:167846235 [GRCh38]
Chr1:167815473 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2201C>T (p.Pro734Leu) |
single nucleotide variant |
not specified [RCV004368088] |
Chr1:167854460 [GRCh38]
Chr1:167823698 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3343C>G (p.Leu1115Val) |
single nucleotide variant |
not specified [RCV004904909] |
Chr1:167834044 [GRCh38]
Chr1:167803282 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1633T>G (p.Leu545Val) |
single nucleotide variant |
not specified [RCV004904910] |
Chr1:167861047 [GRCh38]
Chr1:167830285 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.869G>A (p.Arg290His) |
single nucleotide variant |
not specified [RCV004904911] |
Chr1:167883588 [GRCh38]
Chr1:167852826 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1393C>T (p.Arg465Cys) |
single nucleotide variant |
not specified [RCV004904912] |
Chr1:167878459 [GRCh38]
Chr1:167847697 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1264C>T (p.Pro422Ser) |
single nucleotide variant |
not specified [RCV004904945] |
Chr1:167878588 [GRCh38]
Chr1:167847826 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4550T>C (p.Met1517Thr) |
single nucleotide variant |
not specified [RCV004904957] |
Chr1:167810846 [GRCh38]
Chr1:167780083 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2009T>C (p.Met670Thr) |
single nucleotide variant |
not specified [RCV004904966] |
Chr1:167856327 [GRCh38]
Chr1:167825565 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4276G>A (p.Val1426Ile) |
single nucleotide variant |
not specified [RCV004904969] |
Chr1:167822034 [GRCh38]
Chr1:167791272 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3443T>G (p.Val1148Gly) |
single nucleotide variant |
not specified [RCV004904896] |
Chr1:167833137 [GRCh38]
Chr1:167802375 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3868G>A (p.Glu1290Lys) |
single nucleotide variant |
not specified [RCV004904900] |
Chr1:167824738 [GRCh38]
Chr1:167793976 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4195T>C (p.Cys1399Arg) |
single nucleotide variant |
not specified [RCV004904923] |
Chr1:167822115 [GRCh38]
Chr1:167791353 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2791C>G (p.Pro931Ala) |
single nucleotide variant |
not specified [RCV004904970] |
Chr1:167845779 [GRCh38]
Chr1:167815017 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2612A>G (p.Tyr871Cys) |
single nucleotide variant |
not specified [RCV004904971] |
Chr1:167846089 [GRCh38]
Chr1:167815327 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4798C>G (p.Leu1600Val) |
single nucleotide variant |
not specified [RCV004904973] |
Chr1:167809713 [GRCh38]
Chr1:167778950 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2250C>A (p.Leu750=) |
single nucleotide variant |
not provided [RCV005156946] |
Chr1:167854411 [GRCh38]
Chr1:167823649 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4497G>A (p.Leu1499=) |
single nucleotide variant |
not provided [RCV005159712] |
Chr1:167810899 [GRCh38]
Chr1:167780136 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3593+2T>C |
single nucleotide variant |
not provided [RCV005184956] |
Chr1:167832985 [GRCh38]
Chr1:167802223 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.184A>G (p.Met62Val) |
single nucleotide variant |
not provided [RCV005108884] |
Chr1:167903956 [GRCh38]
Chr1:167873194 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.661C>A (p.Pro221Thr) |
single nucleotide variant |
not provided [RCV005181533] |
Chr1:167896673 [GRCh38]
Chr1:167865911 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2717-10C>T |
single nucleotide variant |
not provided [RCV005156317] |
Chr1:167845863 [GRCh38]
Chr1:167815101 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3570G>A (p.Gln1190=) |
single nucleotide variant |
not provided [RCV005118223] |
Chr1:167833010 [GRCh38]
Chr1:167802248 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2583G>A (p.Leu861=) |
single nucleotide variant |
not provided [RCV005153124] |
Chr1:167846118 [GRCh38]
Chr1:167815356 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3593+6G>A |
single nucleotide variant |
not provided [RCV005185082] |
Chr1:167832981 [GRCh38]
Chr1:167802219 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.437-10T>C |
single nucleotide variant |
not provided [RCV005187791] |
Chr1:167899638 [GRCh38]
Chr1:167868876 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.3503A>G (p.Asn1168Ser) |
single nucleotide variant |
not provided [RCV005190802] |
Chr1:167833077 [GRCh38]
Chr1:167802315 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.1915A>C (p.Ile639Leu) |
single nucleotide variant |
not provided [RCV005151485] |
Chr1:167856421 [GRCh38]
Chr1:167825659 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2763C>A (p.Ile921=) |
single nucleotide variant |
not provided [RCV005075887] |
Chr1:167845807 [GRCh38]
Chr1:167815045 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.148+17T>C |
single nucleotide variant |
not provided [RCV005072536] |
Chr1:167904976 [GRCh38]
Chr1:167874214 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.983T>C (p.Phe328Ser) |
single nucleotide variant |
not provided [RCV005161345] |
Chr1:167883474 [GRCh38]
Chr1:167852712 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.211T>C (p.Leu71=) |
single nucleotide variant |
not provided [RCV005206933] |
Chr1:167903929 [GRCh38]
Chr1:167873167 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2464A>T (p.Met822Leu) |
single nucleotide variant |
not provided [RCV005178239] |
Chr1:167846237 [GRCh38]
Chr1:167815475 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4361C>T (p.Thr1454Ile) |
single nucleotide variant |
not provided [RCV005080611] |
Chr1:167818193 [GRCh38]
Chr1:167787431 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.87C>A (p.Phe29Leu) |
single nucleotide variant |
not provided [RCV005142660] |
Chr1:167905054 [GRCh38]
Chr1:167874292 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.75C>A (p.Val25=) |
single nucleotide variant |
not provided [RCV005135328] |
Chr1:167905066 [GRCh38]
Chr1:167874304 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1897-19_1897-14del |
microsatellite |
not provided [RCV005081571] |
Chr1:167856453..167856458 [GRCh38]
Chr1:167825691..167825696 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4270T>A (p.Ser1424Thr) |
single nucleotide variant |
not provided [RCV005159901] |
Chr1:167822040 [GRCh38]
Chr1:167791278 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2402G>C (p.Arg801Thr) |
single nucleotide variant |
not provided [RCV005076298] |
Chr1:167848396 [GRCh38]
Chr1:167817634 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.667A>C (p.Asn223His) |
single nucleotide variant |
not provided [RCV005080043] |
Chr1:167896667 [GRCh38]
Chr1:167865905 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3311C>T (p.Ala1104Val) |
single nucleotide variant |
not provided [RCV005163748] |
Chr1:167834076 [GRCh38]
Chr1:167803314 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4677A>C (p.Ser1559=) |
single nucleotide variant |
not provided [RCV005135702] |
Chr1:167809834 [GRCh38]
Chr1:167779071 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1738dup (p.Leu580fs) |
duplication |
not provided [RCV005135284] |
Chr1:167860941..167860942 [GRCh38]
Chr1:167830179..167830180 [GRCh37]
Chr1:1q24.2 |
pathogenic |
| NM_018417.6(ADCY10):c.1397C>T (p.Thr466Ile) |
single nucleotide variant |
not provided [RCV005077167] |
Chr1:167878455 [GRCh38]
Chr1:167847693 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2171+1G>A |
single nucleotide variant |
not provided [RCV005194230] |
Chr1:167856164 [GRCh38]
Chr1:167825402 [GRCh37]
Chr1:1q24.2 |
likely pathogenic |
| NM_018417.6(ADCY10):c.4751T>C (p.Ile1584Thr) |
single nucleotide variant |
not provided [RCV005136202] |
Chr1:167809760 [GRCh38]
Chr1:167778997 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.4179T>C (p.Tyr1393=) |
single nucleotide variant |
not provided [RCV005189113] |
Chr1:167822131 [GRCh38]
Chr1:167791369 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.2516C>T (p.Thr839Ile) |
single nucleotide variant |
not provided [RCV005133786] |
Chr1:167846185 [GRCh38]
Chr1:167815423 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.654A>G (p.Leu218=) |
single nucleotide variant |
not provided [RCV005108053] |
Chr1:167896680 [GRCh38]
Chr1:167865918 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1850A>G (p.Lys617Arg) |
single nucleotide variant |
not provided [RCV005069928] |
Chr1:167859853 [GRCh38]
Chr1:167829091 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.829-4G>C |
single nucleotide variant |
not provided [RCV005070857] |
Chr1:167883632 [GRCh38]
Chr1:167852870 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.1559A>G (p.Tyr520Cys) |
single nucleotide variant |
not provided [RCV005074596] |
Chr1:167870314 [GRCh38]
Chr1:167839552 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.3303C>T (p.Asn1101=) |
single nucleotide variant |
not provided [RCV005151152] |
Chr1:167836315 [GRCh38]
Chr1:167805553 [GRCh37]
Chr1:1q24.2 |
likely benign |
| NM_018417.6(ADCY10):c.4292C>G (p.Ala1431Gly) |
single nucleotide variant |
not provided [RCV005153616] |
Chr1:167818262 [GRCh38]
Chr1:167787500 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2507T>C (p.Ile836Thr) |
single nucleotide variant |
not provided [RCV005126918] |
Chr1:167846194 [GRCh38]
Chr1:167815432 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
| NM_018417.6(ADCY10):c.2662C>T (p.Pro888Ser) |
single nucleotide variant |
not provided [RCV005108740] |
Chr1:167846039 [GRCh38]
Chr1:167815277 [GRCh37]
Chr1:1q24.2 |
uncertain significance |
