NM_002734.5(PRKAR1A):c.778G>C (p.Asp260His) |
single nucleotide variant |
Carney complex, type 1 [RCV000542202]|Hereditary cancer-predisposing syndrome [RCV002413567] |
Chr17:68528878 [GRCh38] Chr17:66525019 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.477C>T (p.Ile159=) |
single nucleotide variant |
Carney complex, type 1 [RCV000546400]|Hereditary cancer-predisposing syndrome [RCV001023030]|not specified [RCV000590096] |
Chr17:68524052 [GRCh38] Chr17:66520193 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003459245]|Carney complex, type 1 [RCV000528487]|Hereditary cancer-predisposing syndrome [RCV001024732]|PRKAR1A-related condition [RCV003419970]|not provided [RCV002223869] |
Chr17:68525800 [GRCh38] Chr17:66521941 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.441-4del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000568462] |
Chr17:68524012 [GRCh38] Chr17:66520153 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.695dup (p.Arg233fs) |
duplication |
not provided [RCV000519355] |
Chr17:68525898..68525899 [GRCh38] Chr17:66522039..66522040 [GRCh37] Chr17:17q24.2 |
pathogenic|likely pathogenic |
PRKAR1A, 1-BP DEL, 710G |
deletion |
Carney complex, type 1 [RCV000013502] |
Chr17:17q23-q24 |
pathogenic |
NM_002734.5(PRKAR1A):c.761_762del (p.Ser254fs) |
microsatellite |
Carney complex, type 1 [RCV000013503]|Hereditary cancer-predisposing syndrome [RCV003298031] |
Chr17:68527889..68527890 [GRCh38] Chr17:66524030..66524031 [GRCh37] Chr17:17q24.2 |
pathogenic |
PRKAR1A, 2-BP DEL, 576TG |
deletion |
Carney complex, type 1 [RCV000013504] |
Chr17:17q23-q24 |
pathogenic |
NM_002734.5(PRKAR1A):c.-7+1G>A |
single nucleotide variant |
Carney complex, type 1 [RCV001851827]|Pigmented nodular adrenocortical disease, primary, 1 [RCV000013506] |
Chr17:68512549 [GRCh38] Chr17:66508690 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
PRKAR1A, 16-BP DEL |
deletion |
Pigmented nodular adrenocortical disease, primary, 1 [RCV000013507] |
Chr17:17q23-q24 |
pathogenic |
NM_002734.5(PRKAR1A):c.892-1G>A |
single nucleotide variant |
Adrenocortical tumor, somatic [RCV000013509] |
Chr17:68529919 [GRCh38] Chr17:66526060 [GRCh37] Chr17:17q24.2 |
pathogenic|other |
NM_002734.5(PRKAR1A):c.289C>T (p.Arg97Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV000811724]|not provided [RCV000627206] |
Chr17:68522867 [GRCh38] Chr17:66519008 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.891+269C>T |
single nucleotide variant |
not provided [RCV001544606] |
Chr17:68529260 [GRCh38] Chr17:66525401 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV000701277]|Hereditary cancer-predisposing syndrome [RCV000562330]|not provided [RCV001764689]|not specified [RCV002282240] |
Chr17:68515418 [GRCh38] Chr17:66511559 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.1014A>C (p.Thr338=) |
single nucleotide variant |
Carney complex, type 1 [RCV001401032]|Hereditary cancer-predisposing syndrome [RCV002330917] |
Chr17:68530317 [GRCh38] Chr17:66526458 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.630G>A (p.Pro210=) |
single nucleotide variant |
Carney complex, type 1 [RCV000548896]|Hereditary cancer-predisposing syndrome [RCV001025119] |
Chr17:68525834 [GRCh38] Chr17:66521975 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001126553]|Carney complex, type 1 [RCV000549253]|Hereditary cancer-predisposing syndrome [RCV001026644]|not provided [RCV003424122] |
Chr17:68527893 [GRCh38] Chr17:66524034 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.441-5T>C |
single nucleotide variant |
Carney complex, type 1 [RCV000543767]|Hereditary cancer-predisposing syndrome [RCV002330918] |
Chr17:68524011 [GRCh38] Chr17:66520152 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.132G>A (p.Glu44=) |
single nucleotide variant |
Carney complex, type 1 [RCV000524936]|Hereditary cancer-predisposing syndrome [RCV001011073] |
Chr17:68515531 [GRCh38] Chr17:66511672 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.18C>T (p.Thr6=) |
single nucleotide variant |
Carney complex, type 1 [RCV000539653]|Hereditary cancer-predisposing syndrome [RCV000567992] |
Chr17:68515417 [GRCh38] Chr17:66511558 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+1G>A |
single nucleotide variant |
Carney complex, type 1 [RCV000556523]|Hereditary cancer-predisposing syndrome [RCV002341383]|not provided [RCV003314614] |
Chr17:68524078 [GRCh38] Chr17:66520219 [GRCh37] Chr17:17q24.2 |
pathogenic|likely pathogenic |
NM_002734.5(PRKAR1A):c.1041C>T (p.Cys347=) |
single nucleotide variant |
Carney complex, type 1 [RCV000555722]|Hereditary cancer-predisposing syndrome [RCV000571717] |
Chr17:68530344 [GRCh38] Chr17:66526485 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.891+6G>A |
single nucleotide variant |
Carney complex, type 1 [RCV000531275] |
Chr17:68528997 [GRCh38] Chr17:66525138 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.973+4T>G |
single nucleotide variant |
Carney complex, type 1 [RCV000529352] |
Chr17:68530005 [GRCh38] Chr17:66526146 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000022791]|Carney complex, type 1 [RCV001852002]|PRKAR1A-related condition [RCV003398560]|Pigmented nodular adrenocortical disease, primary, 1 [RCV001824573]|not provided [RCV000760318] |
Chr17:68530405 [GRCh38] Chr17:66526546 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.1117T>C (p.Tyr373His) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000022792]|Carney complex, type 1 [RCV002513177] |
Chr17:68530420 [GRCh38] Chr17:66526561 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_002734.5(PRKAR1A):c.1004G>C (p.Arg335Pro) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000022793] |
Chr17:68530307 [GRCh38] Chr17:66526448 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.980T>C (p.Ile327Thr) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000022794] |
Chr17:68530283 [GRCh38] Chr17:66526424 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs) |
microsatellite |
Carney complex, type 1 [RCV000013498]|Hereditary cancer-predisposing syndrome [RCV002345241]|not provided [RCV000414608] |
Chr17:68524064..68524065 [GRCh38] Chr17:66520205..66520206 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) |
indel |
Carney complex, type 1 [RCV000013499] |
Chr17:68528886..68528887 [GRCh38] Chr17:66525027..66525028 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.891+3A>G |
single nucleotide variant |
Carney complex, type 1 [RCV000013500]|not provided [RCV001857341] |
Chr17:68528994 [GRCh38] Chr17:66525135 [GRCh37] Chr17:17q24.2 |
pathogenic|likely pathogenic |
NM_002734.5(PRKAR1A):c.618_621del (p.Ile206fs) |
deletion |
Familial atrial myxoma [RCV000013501] |
Chr17:68525820..68525823 [GRCh38] Chr17:66521961..66521964 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val) |
single nucleotide variant |
Carney complex, type 1 [RCV000013505]|not provided [RCV000523178] |
Chr17:68515400 [GRCh38] Chr17:66511541 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.708+1G>T |
single nucleotide variant |
Carney complex, type 1 [RCV000013508] |
Chr17:68525913 [GRCh38] Chr17:66522054 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003466855]|Carney complex [RCV000148738]|Carney complex, type 1 [RCV000013510]|Hereditary cancer-predisposing syndrome [RCV001014797]|PRKAR1A-related condition [RCV003407324]|not provided [RCV003320547] |
Chr17:68522798 [GRCh38] Chr17:66518939 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_002734.5(PRKAR1A):c.709-7_709-2del |
microsatellite |
Carney complex [RCV000013512]|Carney complex, type 1 [RCV001387938]|Carney complex, type 1 [RCV002496345]|Pigmented nodular adrenocortical disease, primary, 1 [RCV000013511] |
Chr17:68527824..68527829 [GRCh38] Chr17:66523965..66523970 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000283920]|Carney complex, type 1 [RCV000466868]|Carney complex, type 1 [RCV002504860]|Familial atrial myxoma [RCV003315542]|Hereditary cancer-predisposing syndrome [RCV000561785]|not provided [RCV001709476]|not specified [RCV001818208] |
Chr17:68522782 [GRCh38] Chr17:66518923 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.4(PRKAR1A):c.318G>C (p.Thr106=) |
single nucleotide variant |
Carney complex, type 1 [RCV000033944] |
Chr17:68522896 [GRCh38] Chr17:66519037 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.349-5dup |
duplication |
Acrodysostosis 1 with or without hormone resistance [RCV001789000]|Acrodysostosis [RCV000391534]|Carney complex [RCV000295961]|Carney complex, type 1 [RCV001521654]|Hereditary cancer-predisposing syndrome [RCV000566192]|not provided [RCV001659926]|not specified [RCV000242998] |
Chr17:68523716..68523717 [GRCh38] Chr17:66519857..66519858 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) |
single nucleotide variant |
Acrodysostosis [RCV000315884]|Carney complex [RCV000354275]|Carney complex, type 1 [RCV000229742]|Familial atrial myxoma [RCV003315543]|Hereditary cancer-predisposing syndrome [RCV000568769]|not provided [RCV001711145]|not specified [RCV000247351] |
Chr17:68515486 [GRCh38] Chr17:66511627 [GRCh37] Chr17:17q24.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002734.5(PRKAR1A):c.892-34G>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001789519]|Carney complex, type 1 [RCV001789518]|not provided [RCV001685676] |
Chr17:68529886 [GRCh38] Chr17:66526027 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.974-102A>T |
single nucleotide variant |
not provided [RCV001609656] |
Chr17:68530175 [GRCh38] Chr17:66526316 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.101_105del (p.Ser34fs) |
deletion |
Carney complex, type 1 [RCV000034282] |
Chr17:68515497..68515501 [GRCh38] Chr17:66511638..66511642 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.109C>T (p.Gln37Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV000034283] |
Chr17:68515508 [GRCh38] Chr17:66511649 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.124C>T (p.Arg42Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV000034284]|not provided [RCV001007963] |
Chr17:68515523 [GRCh38] Chr17:66511664 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.139del (p.Met47fs) |
deletion |
Carney complex, type 1 [RCV000034285] |
Chr17:68515538 [GRCh38] Chr17:66511679 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.178-2A>G |
single nucleotide variant |
Carney complex, type 1 [RCV000034286] |
Chr17:68522754 [GRCh38] Chr17:66518895 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_212472.2(PRKAR1A):c.178_348del (p.Glu60_Lys116del) |
deletion |
Carney complex, type 1 [RCV000034287] |
|
pathogenic |
NM_002734.5(PRKAR1A):c.286C>T (p.Arg96Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV000034288] |
Chr17:68522864 [GRCh38] Chr17:66519005 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.348+1G>C |
single nucleotide variant |
Carney complex, type 1 [RCV000034289] |
Chr17:68522927 [GRCh38] Chr17:66519068 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.550-8_550-1del |
deletion |
Carney complex, type 1 [RCV000034290] |
Chr17:68525745..68525752 [GRCh38] Chr17:66521886..66521893 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.566_567delinsCAC (p.Glu189fs) |
indel |
Carney complex, type 1 [RCV000034291] |
Chr17:68525770..68525771 [GRCh38] Chr17:66521911..66521912 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.638C>A (p.Ala213Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV000034292] |
Chr17:68525842 [GRCh38] Chr17:66521983 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter) |
single nucleotide variant |
Carney complex [RCV001269128]|Carney complex, type 1 [RCV000034293]|not provided [RCV000627207] |
Chr17:68525886 [GRCh38] Chr17:66522027 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.711_712dup (p.Ser238fs) |
duplication |
Carney complex, type 1 [RCV000034295] |
Chr17:68527841..68527842 [GRCh38] Chr17:66523982..66523983 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.82C>T (p.Gln28Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV000034296] |
Chr17:68515481 [GRCh38] Chr17:66511622 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.846_847insA (p.Val283fs) |
insertion |
Carney complex, type 1 [RCV000034297] |
Chr17:68528946..68528947 [GRCh38] Chr17:66525087..66525088 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_002734.5(PRKAR1A):c.85_95del (p.Ala29fs) |
deletion |
Carney complex, type 1 [RCV000034298] |
Chr17:68515480..68515490 [GRCh38] Chr17:66511621..66511631 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1 |
copy number loss |
See cases [RCV000053452] |
Chr17:67833866..70085854 [GRCh38] Chr17:65829982..68081995 [GRCh37] Chr17:63260444..65593590 [NCBI36] Chr17:17q24.2-24.3 |
pathogenic |
NM_002734.4(PRKAR1A):c.253C>T (p.Pro85Ser) |
single nucleotide variant |
Malignant melanoma [RCV000071629] |
Chr17:68522831 [GRCh38] Chr17:66518972 [GRCh37] Chr17:64030567 [NCBI36] Chr17:17q24.2 |
not provided |
NM_002734.4(PRKAR1A):c.254C>T (p.Pro85Leu) |
single nucleotide variant |
Malignant melanoma [RCV000071630] |
Chr17:68522832 [GRCh38] Chr17:66518973 [GRCh37] Chr17:64030568 [NCBI36] Chr17:17q24.2 |
not provided |
NM_002734.4(PRKAR1A):c.344G>A (p.Arg115Lys) |
single nucleotide variant |
Malignant melanoma [RCV000071631] |
Chr17:68522922 [GRCh38] Chr17:66519063 [GRCh37] Chr17:64030658 [NCBI36] Chr17:17q24.2 |
not provided |
NM_002734.5(PRKAR1A):c.693dup (p.Arg232Ter) |
duplication |
Carney complex, type 1 [RCV000034294] |
Chr17:68525896..68525897 [GRCh38] Chr17:66522037..66522038 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV000029154] |
Chr17:68542796 [GRCh38] Chr17:66538937 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.530T>C (p.Ile177Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV001239354]|Hereditary cancer-predisposing syndrome [RCV003298142]|not provided [RCV002223789]|not specified [RCV000121881] |
Chr17:68524939 [GRCh38] Chr17:66521080 [GRCh37] Chr17:17q24.2 |
uncertain significance|not provided |
NM_017565.4(FAM20A):c.720-2A>G |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV000128612] |
Chr17:68543723 [GRCh38] Chr17:66539864 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV000128613] |
Chr17:68537671 [GRCh38] Chr17:66533812 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.813-2A>G |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV000029151] |
Chr17:68542811 [GRCh38] Chr17:66538952 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) |
deletion |
Amelogenesis imperfecta type 1G [RCV000029152] |
Chr17:68540889..68540893 [GRCh38] Chr17:66537030..66537034 [GRCh37] Chr17:17q24.2 |
pathogenic |
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 |
copy number gain |
See cases [RCV000137437] |
Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1 |
copy number loss |
See cases [RCV000138379] |
Chr17:67584224..68639875 [GRCh38] Chr17:65580340..66636016 [GRCh37] Chr17:63010802..64147611 [NCBI36] Chr17:17q24.2 |
pathogenic |
GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1 |
copy number loss |
See cases [RCV000143113] |
Chr17:68420514..71351235 [GRCh38] Chr17:66416655..69347376 [GRCh37] Chr17:63928250..66858971 [NCBI36] Chr17:17q24.2-24.3 |
pathogenic |
NM_002734.5(PRKAR1A):c.623del (p.Gly208fs) |
deletion |
Carney complex [RCV000151681]|Carney complex, type 1 [RCV001382880]|not provided [RCV000317950] |
Chr17:68525826 [GRCh38] Chr17:66521967 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001278433.1(PRKAR1A):c.-6-30345G>A |
single nucleotide variant |
Lung cancer [RCV000100613] |
Chr17:68485049 [GRCh38] Chr17:66481190 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.177+3A>G |
single nucleotide variant |
Carney complex, type 1 [RCV000192091]|Hereditary cancer-predisposing syndrome [RCV002408733]|not provided [RCV001568442] |
Chr17:68515579 [GRCh38] Chr17:66511720 [GRCh37] Chr17:17q24.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NC_000017.11:g.(?_68512379)_(68533431_?)del |
deletion |
Carney complex, type 1 [RCV000192092] |
Chr17:68512379..68533431 [GRCh38] Chr17:17q24.2 |
pathogenic |
NC_000017.11:g.(?_68512379)_(68512548_?)del |
deletion |
Carney complex, type 1 [RCV000192093] |
Chr17:68512379..68512548 [GRCh38] Chr17:17q24.2 |
pathogenic |
NC_000017.11:g.(?_68515394)_(68515576_?)del |
deletion |
Carney complex, type 1 [RCV000192094] |
Chr17:68515394..68515576 [GRCh38] Chr17:17q24.2 |
pathogenic |
NC_000017.11:g.(?_68528870)_(68530449_?)del |
deletion |
Carney complex, type 1 [RCV000192095] |
Chr17:68528870..68530449 [GRCh38] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.63C>T (p.Tyr21=) |
single nucleotide variant |
Carney complex, type 1 [RCV000527135]|Hereditary cancer-predisposing syndrome [RCV000571388]|not specified [RCV003114669] |
Chr17:68515462 [GRCh38] Chr17:66511603 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.591A>G (p.Gly197=) |
single nucleotide variant |
Carney complex, type 1 [RCV000549659]|Hereditary cancer-predisposing syndrome [RCV003159853] |
Chr17:68525795 [GRCh38] Chr17:66521936 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.85G>T (p.Ala29Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV000553000] |
Chr17:68515484 [GRCh38] Chr17:66511625 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003459246]|Carney complex, type 1 [RCV000556130]|Hereditary cancer-predisposing syndrome [RCV002377115] |
Chr17:68515493 [GRCh38] Chr17:66511634 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.912A>G (p.Gln304=) |
single nucleotide variant |
Carney complex, type 1 [RCV001055943]|Hereditary cancer-predisposing syndrome [RCV001018901] |
Chr17:68529940 [GRCh38] Chr17:66526081 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=) |
single nucleotide variant |
Carney complex, type 1 [RCV001083001]|Familial atrial myxoma [RCV003316257]|Hereditary cancer-predisposing syndrome [RCV000573447]|not provided [RCV000586200]|not specified [RCV000251184] |
Chr17:68530332 [GRCh38] Chr17:66526473 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000404114]|Carney complex, type 1 [RCV000229573]|Hereditary cancer-predisposing syndrome [RCV000573601]|not provided [RCV001697581]|not specified [RCV000610412] |
Chr17:68524955 [GRCh38] Chr17:66521096 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.64G>T (p.Val22Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV000232417] |
Chr17:68515463 [GRCh38] Chr17:66511604 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.974-10C>T |
single nucleotide variant |
Carney complex, type 1 [RCV001082140]|not provided [RCV000590668] |
Chr17:68530267 [GRCh38] Chr17:66526408 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.483A>G (p.Gly161=) |
single nucleotide variant |
Carney complex, type 1 [RCV000231751]|Hereditary cancer-predisposing syndrome [RCV001023133]|not specified [RCV002282077] |
Chr17:68524058 [GRCh38] Chr17:66520199 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.489T>G (p.Thr163=) |
single nucleotide variant |
Carney complex, type 1 [RCV000226717]|Hereditary cancer-predisposing syndrome [RCV001023224]|not specified [RCV001264476] |
Chr17:68524064 [GRCh38] Chr17:66520205 [GRCh37] Chr17:17q24.2 |
likely pathogenic|likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000384218]|Carney complex, type 1 [RCV000990054]|Hereditary cancer-predisposing syndrome [RCV000561393]|not specified [RCV000588205] |
Chr17:68522799 [GRCh38] Chr17:66518940 [GRCh37] Chr17:17q24.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002734.5(PRKAR1A):c.675C>A (p.Gly225=) |
single nucleotide variant |
Carney complex, type 1 [RCV000226328]|Hereditary cancer-predisposing syndrome [RCV001025617]|not specified [RCV001818604] |
Chr17:68525879 [GRCh38] Chr17:66522020 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.672G>A (p.Trp224Ter) |
single nucleotide variant |
not provided [RCV000519219] |
Chr17:68525876 [GRCh38] Chr17:66522017 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.330G>A (p.Ala110=) |
single nucleotide variant |
Carney complex, type 1 [RCV000554711]|Hereditary cancer-predisposing syndrome [RCV000568738]|not specified [RCV001193082] |
Chr17:68522908 [GRCh38] Chr17:66519049 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV001702398]|not provided [RCV001512679]|not specified [RCV000246398] |
Chr17:68542098 [GRCh38] Chr17:66538239 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.550-3T>C |
single nucleotide variant |
Carney complex, type 1 [RCV001858380]|Hereditary cancer-predisposing syndrome [RCV000565571] |
Chr17:68525751 [GRCh38] Chr17:66521892 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.914G>A (p.Arg305His) |
single nucleotide variant |
Carney complex, type 1 [RCV000798740]|Hereditary cancer-predisposing syndrome [RCV000564440]|not provided [RCV003235293] |
Chr17:68529942 [GRCh38] Chr17:66526083 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV001701971]|not provided [RCV001512678]|not specified [RCV000243426] |
Chr17:68537514 [GRCh38] Chr17:66533655 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000299630]|Carney complex, type 1 [RCV001082572]|Hereditary cancer-predisposing syndrome [RCV000566997]|not provided [RCV000589555] |
Chr17:68525882 [GRCh38] Chr17:66522023 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.*1346A>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000264564]|Carney complex, type 1 [RCV000377845] |
Chr17:68531795 [GRCh38] Chr17:66527936 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.*795G>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000274013]|Carney complex, type 1 [RCV000333861] |
Chr17:68531244 [GRCh38] Chr17:66527385 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.*2072G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000364353]|Carney complex, type 1 [RCV000269697] |
Chr17:68532521 [GRCh38] Chr17:66528662 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1244T>C |
single nucleotide variant |
Acrodysostosis [RCV000319592]|Carney complex [RCV000259768] |
Chr17:68531693 [GRCh38] Chr17:66527834 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.*172_*175del |
deletion |
Acrodysostosis [RCV000325186]|Carney complex [RCV000270191] |
Chr17:68530618..68530621 [GRCh38] Chr17:66526759..66526762 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-6-7C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000368758]|Carney complex, type 1 [RCV000877412] |
Chr17:68515387 [GRCh38] Chr17:66511528 [GRCh37] Chr17:17q24.2 |
benign|likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.*759C>T |
single nucleotide variant |
Acrodysostosis [RCV000368524]|Carney complex [RCV000309207] |
Chr17:68531208 [GRCh38] Chr17:66527349 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-25C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000369750]|Carney complex, type 1 [RCV000308115] |
Chr17:68512530 [GRCh38] Chr17:66508671 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.*1212T>G |
single nucleotide variant |
Acrodysostosis [RCV000313762]|Carney complex [RCV000354618] |
Chr17:68531661 [GRCh38] Chr17:66527802 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000323950]|Carney complex, type 1 [RCV000541002]|Hereditary cancer-predisposing syndrome [RCV001017120]|not specified [RCV001280560] |
Chr17:68515502 [GRCh38] Chr17:66511643 [GRCh37] Chr17:17q24.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002734.5(PRKAR1A):c.*893G>C |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000376199]|Carney complex, type 1 [RCV000286474] |
Chr17:68531342 [GRCh38] Chr17:66527483 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.*2188C>G |
single nucleotide variant |
Acrodysostosis [RCV000329581]|Carney complex [RCV000384084] |
Chr17:68532637 [GRCh38] Chr17:66528778 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.*1606A>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000289006]|Carney complex, type 1 [RCV000343960] |
Chr17:68532055 [GRCh38] Chr17:66528196 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.*1777C>T |
single nucleotide variant |
Acrodysostosis [RCV000384475]|Carney complex [RCV000290107] |
Chr17:68532226 [GRCh38] Chr17:66528367 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.738T>G (p.Tyr246Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV001382881]|not provided [RCV000349156] |
Chr17:68527869 [GRCh38] Chr17:66524010 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.*812A>C |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000388353]|Carney complex, type 1 [RCV000261349]|not provided [RCV003409513] |
Chr17:68531261 [GRCh38] Chr17:66527402 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.*138C>A |
single nucleotide variant |
Acrodysostosis [RCV000406657]|Carney complex [RCV000298624]|not provided [RCV001582966] |
Chr17:68530587 [GRCh38] Chr17:66526728 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-75G>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000406629]|Carney complex, type 1 [RCV000309631] |
Chr17:68512480 [GRCh38] Chr17:66508621 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.*672T>C |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000337637]|Carney complex, type 1 [RCV000403950] |
Chr17:68531121 [GRCh38] Chr17:66527262 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.360del (p.Asp121fs) |
deletion |
not provided [RCV000369351] |
Chr17:68523733 [GRCh38] Chr17:66519874 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.374dup (p.Met125fs) |
duplication |
not provided [RCV000371626] |
Chr17:68523749..68523750 [GRCh38] Chr17:66519890..66519891 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.*1168A>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000367092]|Carney complex, type 1 [RCV000277225] |
Chr17:68531617 [GRCh38] Chr17:66527758 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*2018C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000358473]|Carney complex, type 1 [RCV000303698] |
Chr17:68532467 [GRCh38] Chr17:66528608 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.*2197G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000295532]|Carney complex, type 1 [RCV000389450] |
Chr17:68532646 [GRCh38] Chr17:66528787 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.*1837G>T |
single nucleotide variant |
Acrodysostosis [RCV000295909]|Carney complex [RCV000350781] |
Chr17:68532286 [GRCh38] Chr17:66528427 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.*587dup |
duplication |
Acrodysostosis [RCV000295699]|Carney complex [RCV000350584] |
Chr17:68531025..68531026 [GRCh38] Chr17:66527166..66527167 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.*587del |
deletion |
Acrodysostosis [RCV000391637]|Carney complex [RCV000278154] |
Chr17:68531026 [GRCh38] Chr17:66527167 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*156C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000359424]|Carney complex, type 1 [RCV000320998] |
Chr17:68530605 [GRCh38] Chr17:66526746 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.*151A>G |
single nucleotide variant |
Acrodysostosis [RCV000360526]|Carney complex [RCV000268168] |
Chr17:68530600 [GRCh38] Chr17:66526741 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000345213]|Carney complex, type 1 [RCV000645615]|Hereditary cancer-predisposing syndrome [RCV000565004] |
Chr17:68522887 [GRCh38] Chr17:66519028 [GRCh37] Chr17:17q24.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002734.5(PRKAR1A):c.*847A>G |
single nucleotide variant |
Acrodysostosis [RCV000316519]|Carney complex [RCV000375757] |
Chr17:68531296 [GRCh38] Chr17:66527437 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.*722A>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000403244]|Carney complex, type 1 [RCV000308546] |
Chr17:68531171 [GRCh38] Chr17:66527312 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.*870G>A |
single nucleotide variant |
Acrodysostosis [RCV000340323]|Carney complex [RCV000280621] |
Chr17:68531319 [GRCh38] Chr17:66527460 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.*724T>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000363141]|Carney complex, type 1 [RCV000273261] |
Chr17:68531173 [GRCh38] Chr17:66527314 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*2067T>C |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000268339]|Carney complex, type 1 [RCV000323517] |
Chr17:68532516 [GRCh38] Chr17:66528657 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1062A>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000306304]|Carney complex, type 1 [RCV000347181] |
Chr17:68531511 [GRCh38] Chr17:66527652 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003469209]|Carney complex, type 1 [RCV000558438]|PRKAR1A-related condition [RCV003409393]|not provided [RCV000265264] |
Chr17:68515445 [GRCh38] Chr17:66511586 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.806A>G (p.Asp269Gly) |
single nucleotide variant |
not provided [RCV000489158] |
Chr17:68528906 [GRCh38] Chr17:66525047 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.1261G>A (p.Gly421Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003212212] |
Chr17:68539925 [GRCh38] Chr17:66536066 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.440+5G>A |
single nucleotide variant |
not provided [RCV000520030] |
Chr17:68523821 [GRCh38] Chr17:66519962 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002489195]|not provided [RCV000489649] |
Chr17:68539892 [GRCh38] Chr17:66536033 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1171C>T (p.Gln391Ter) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV001781078] |
Chr17:68540897 [GRCh38] Chr17:66537038 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.*704T>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000343299]|Carney complex, type 1 [RCV000302469] |
Chr17:68531153 [GRCh38] Chr17:66527294 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*526G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000330896]|Carney complex, type 1 [RCV000385471] |
Chr17:68530975 [GRCh38] Chr17:66527116 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.769+3G>A |
single nucleotide variant |
Carney complex, type 1 [RCV000527474] |
Chr17:68527903 [GRCh38] Chr17:66524044 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-53C>T |
single nucleotide variant |
Acrodysostosis [RCV000347724]|Carney complex [RCV000390832] |
Chr17:68512502 [GRCh38] Chr17:66508643 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) |
single nucleotide variant |
Acrodysostosis [RCV000331981]|Carney complex [RCV000370244]|not provided [RCV000887096]|not specified [RCV003151051] |
Chr17:68537592 [GRCh38] Chr17:66533733 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.*2196C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000330202]|Carney complex, type 1 [RCV000293911] |
Chr17:68532645 [GRCh38] Chr17:66528786 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1835del |
deletion |
Acrodysostosis [RCV000349627]|Carney complex [RCV000407661] |
Chr17:68532282 [GRCh38] Chr17:66528423 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.*1839G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000405569]|Carney complex, type 1 [RCV000296874] |
Chr17:68532288 [GRCh38] Chr17:66528429 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1487C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000379054]|Carney complex, type 1 [RCV000324407] |
Chr17:68531936 [GRCh38] Chr17:66528077 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1842A>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000356445]|Carney complex, type 1 [RCV000405821] |
Chr17:68532291 [GRCh38] Chr17:66528432 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-16C>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000396986]|Carney complex, type 1 [RCV000311693] |
Chr17:68512539 [GRCh38] Chr17:66508680 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1014A>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000406865]|Carney complex, type 1 [RCV000341287] |
Chr17:68531463 [GRCh38] Chr17:66527604 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1118dup |
duplication |
Acrodysostosis [RCV000312444]|Carney complex [RCV000403207] |
Chr17:68531560..68531561 [GRCh38] Chr17:66527701..66527702 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*389T>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000290058]|Carney complex, type 1 [RCV000384408] |
Chr17:68530838 [GRCh38] Chr17:66526979 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.549+6A>T |
single nucleotide variant |
Carney complex, type 1 [RCV001860130]|not provided [RCV000588585] |
Chr17:68524964 [GRCh38] Chr17:66521105 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.647A>G (p.Lys216Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV002530924]|Hereditary cancer-predisposing syndrome [RCV001025310]|not provided [RCV000588769] |
Chr17:68525851 [GRCh38] Chr17:66521992 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-6-4G>A |
single nucleotide variant |
Carney complex, type 1 [RCV001086871]|not provided [RCV000587231] |
Chr17:68515390 [GRCh38] Chr17:66511531 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.289C>A (p.Arg97=) |
single nucleotide variant |
Carney complex, type 1 [RCV001401850]|Hereditary cancer-predisposing syndrome [RCV002438528]|not specified [RCV000589908] |
Chr17:68522867 [GRCh38] Chr17:66519008 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.1134A>G (p.Ser378=) |
single nucleotide variant |
Carney complex, type 1 [RCV002061977]|Hereditary cancer-predisposing syndrome [RCV002325121]|not specified [RCV000590038] |
Chr17:68530437 [GRCh38] Chr17:66526578 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.798G>A (p.Thr266=) |
single nucleotide variant |
Carney complex, type 1 [RCV001086506]|Hereditary cancer-predisposing syndrome [RCV001027024]|not provided [RCV000591297]|not specified [RCV001175416] |
Chr17:68528898 [GRCh38] Chr17:66525039 [GRCh37] Chr17:17q24.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002734.5(PRKAR1A):c.280A>C (p.Arg94=) |
single nucleotide variant |
Carney complex, type 1 [RCV000529815]|Hereditary cancer-predisposing syndrome [RCV001016651] |
Chr17:68522858 [GRCh38] Chr17:66518999 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.567A>C (p.Glu189Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV000534903]|Hereditary cancer-predisposing syndrome [RCV003159852]|not provided [RCV000587029] |
Chr17:68525771 [GRCh38] Chr17:66521912 [GRCh37] Chr17:17q24.2 |
benign|uncertain significance |
NM_002734.5(PRKAR1A):c.72G>A (p.Lys24=) |
single nucleotide variant |
Carney complex, type 1 [RCV001413907]|Hereditary cancer-predisposing syndrome [RCV000574962] |
Chr17:68515471 [GRCh38] Chr17:66511612 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.951del (p.Arg317fs) |
deletion |
not provided [RCV000413468] |
Chr17:68529979 [GRCh38] Chr17:66526120 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val) |
single nucleotide variant |
Carney complex, type 1 [RCV000544572]|Hereditary cancer-predisposing syndrome [RCV001019777]|Medulloblastoma [RCV000505608]|not specified [RCV003403184] |
Chr17:68522907 [GRCh38] Chr17:66519048 [GRCh37] Chr17:17q24.2 |
uncertain significance|other |
NM_017565.4(FAM20A):c.871_891del (p.Glu291_Lys297del) |
deletion |
not provided [RCV000722806] |
Chr17:68542731..68542751 [GRCh38] Chr17:66538872..66538892 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1122_1123del (p.Asn374fs) |
deletion |
not provided [RCV000414079] |
Chr17:68530424..68530425 [GRCh38] Chr17:66526565..66526566 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.854A>G (p.Gln285Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV001854100]|not provided [RCV000595124] |
Chr17:68528954 [GRCh38] Chr17:66525095 [GRCh37] Chr17:17q24.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3 |
copy number gain |
See cases [RCV000446484] |
Chr17:65343022..69344022 [GRCh37] Chr17:17q24.2-24.3 |
uncertain significance |
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 |
copy number gain |
See cases [RCV000447577] |
Chr17:64241326..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
NM_002734.5(PRKAR1A):c.-49G>T |
single nucleotide variant |
not specified [RCV000435092] |
Chr17:68512506 [GRCh38] Chr17:66508647 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.440+15T>C |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001123899]|Carney complex, type 1 [RCV001126552]|Familial atrial myxoma [RCV003316527]|not specified [RCV000435357] |
Chr17:68523831 [GRCh38] Chr17:66519972 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter) |
single nucleotide variant |
Carney complex [RCV000509168]|Carney complex, type 1 [RCV001222838]|not provided [RCV000429583] |
Chr17:68524944 [GRCh38] Chr17:66521085 [GRCh37] Chr17:17q24.2 |
pathogenic|not provided |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 |
copy number gain |
See cases [RCV000447823] |
Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
NM_002734.5(PRKAR1A):c.441-5T>G |
single nucleotide variant |
Carney complex, type 1 [RCV000473951]|not provided [RCV001770316] |
Chr17:68524011 [GRCh38] Chr17:66520152 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.1042G>A (p.Val348Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV000459182]|Hereditary cancer-predisposing syndrome [RCV001009783]|not provided [RCV002222511] |
Chr17:68530345 [GRCh38] Chr17:66526486 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.213_247del (p.Gly72fs) |
deletion |
not provided [RCV000481239] |
Chr17:68522791..68522825 [GRCh38] Chr17:66518932..66518966 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.709-6T>C |
single nucleotide variant |
Carney complex, type 1 [RCV000459445] |
Chr17:68527834 [GRCh38] Chr17:66523975 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.798G>T (p.Thr266=) |
single nucleotide variant |
Carney complex, type 1 [RCV000470803]|Hereditary cancer-predisposing syndrome [RCV003298518] |
Chr17:68528898 [GRCh38] Chr17:66525039 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.69_70dup (p.Lys24fs) |
duplication |
not provided [RCV000481932] |
Chr17:68515466..68515467 [GRCh38] Chr17:66511607..66511608 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003463870]|Carney complex, type 1 [RCV000459769]|Carney complex, type 1 [RCV002489020]|Hereditary cancer-predisposing syndrome [RCV002379427]|not provided [RCV003159123] |
Chr17:68530327 [GRCh38] Chr17:66526468 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=) |
single nucleotide variant |
Carney complex, type 1 [RCV000456278]|Familial atrial myxoma [RCV003316584]|Hereditary cancer-predisposing syndrome [RCV000567376]|not provided [RCV001721512]|not specified [RCV000601259] |
Chr17:68524064 [GRCh38] Chr17:66520205 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.549+10A>C |
single nucleotide variant |
Carney complex, type 1 [RCV000475186]|Familial atrial myxoma [RCV003316586]|not specified [RCV000586852] |
Chr17:68524968 [GRCh38] Chr17:66521109 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.189A>G (p.Lys63=) |
single nucleotide variant |
Carney complex, type 1 [RCV000460414]|Hereditary cancer-predisposing syndrome [RCV000563824] |
Chr17:68522767 [GRCh38] Chr17:66518908 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.385dup (p.Ala129fs) |
duplication |
not provided [RCV000483450] |
Chr17:68523760..68523761 [GRCh38] Chr17:66519901..66519902 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.407_408del (p.Val136fs) |
microsatellite |
not provided [RCV000483496] |
Chr17:68523781..68523782 [GRCh38] Chr17:66519922..66519923 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=) |
single nucleotide variant |
Carney complex, type 1 [RCV001084659]|Carney complex, type 1 [RCV002475903]|Hereditary cancer-predisposing syndrome [RCV000574210]|not provided [RCV000588396] |
Chr17:68523757 [GRCh38] Chr17:66519898 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.770-9G>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001126554]|Carney complex, type 1 [RCV000464699]|Familial atrial myxoma [RCV003316585]|not specified [RCV000781765] |
Chr17:68528861 [GRCh38] Chr17:66525002 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001122811]|Carney complex, type 1 [RCV000472079]|Familial atrial myxoma [RCV003316583]|Hereditary cancer-predisposing syndrome [RCV000564592] |
Chr17:68515555 [GRCh38] Chr17:66511696 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.318G>A (p.Thr106=) |
single nucleotide variant |
Carney complex, type 1 [RCV000468750]|Hereditary cancer-predisposing syndrome [RCV001019080] |
Chr17:68522896 [GRCh38] Chr17:66519037 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.125dup (p.Pro43fs) |
duplication |
not provided [RCV000478061] |
Chr17:68515523..68515524 [GRCh38] Chr17:66511664..66511665 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.135A>G (p.Arg45=) |
single nucleotide variant |
Carney complex, type 1 [RCV000465615] |
Chr17:68515534 [GRCh38] Chr17:66511675 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.15dup (p.Thr6fs) |
duplication |
not provided [RCV000479092] |
Chr17:68515413..68515414 [GRCh38] Chr17:66511554..66511555 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.550-8C>T |
single nucleotide variant |
Carney complex, type 1 [RCV001082473]|Hereditary cancer-predisposing syndrome [RCV002258924]|not provided [RCV000590276] |
Chr17:68525746 [GRCh38] Chr17:66521887 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.488del (p.Thr163fs) |
deletion |
not provided [RCV000479640] |
Chr17:68524063 [GRCh38] Chr17:66520204 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003470409]|Carney complex, type 1 [RCV000466415]|Hereditary cancer-predisposing syndrome [RCV001026146] |
Chr17:68515470 [GRCh38] Chr17:66511611 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000497832]|Carney complex, type 1 [RCV000763414]|Carney complex, type 1 [RCV002524110]|not provided [RCV001544784] |
Chr17:68530306 [GRCh38] Chr17:66526447 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met) |
single nucleotide variant |
Carney complex, type 1 [RCV000692010]|Hereditary cancer-predisposing syndrome [RCV001024136]|not provided [RCV000493890]|not specified [RCV001731718] |
Chr17:68524954 [GRCh38] Chr17:66521095 [GRCh37] Chr17:17q24.2 |
likely pathogenic|likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.271G>A (p.Val91Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV000556071] |
Chr17:68522849 [GRCh38] Chr17:66518990 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.108G>C (p.Val36=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570022] |
Chr17:68515507 [GRCh38] Chr17:66511648 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.6_11del (p.Glu2_Gly4delinsAsp) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003296672] |
Chr17:68515405..68515410 [GRCh38] Chr17:66511546..66511551 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1028G>A (p.Gly343Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296675] |
Chr17:68530331 [GRCh38] Chr17:66526472 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.853C>T (p.Gln285Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296676] |
Chr17:68528953 [GRCh38] Chr17:66525094 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.312C>A (p.Val104=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296678] |
Chr17:68522890 [GRCh38] Chr17:66519031 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.714C>A (p.Ser238Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296679] |
Chr17:68527845 [GRCh38] Chr17:66523986 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.167G>C (p.Arg56Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296681] |
Chr17:68515566 [GRCh38] Chr17:66511707 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.81T>G (p.Ile27Met) |
single nucleotide variant |
Carney complex, type 1 [RCV001853793]|Hereditary cancer-predisposing syndrome [RCV000575969] |
Chr17:68515480 [GRCh38] Chr17:66511621 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.727C>A (p.Arg243=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645612]|Hereditary cancer-predisposing syndrome [RCV001026223]|not specified [RCV001175415] |
Chr17:68527858 [GRCh38] Chr17:66523999 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.567A>G (p.Glu189=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645613]|Hereditary cancer-predisposing syndrome [RCV002343317] |
Chr17:68525771 [GRCh38] Chr17:66521912 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.852G>A (p.Val284=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645617]|Hereditary cancer-predisposing syndrome [RCV001017964] |
Chr17:68528952 [GRCh38] Chr17:66525093 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.858A>G (p.Gly286=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645618]|Hereditary cancer-predisposing syndrome [RCV002449046] |
Chr17:68528958 [GRCh38] Chr17:66525099 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.287G>A (p.Arg96Gln) |
single nucleotide variant |
Carney complex, type 1 [RCV000645593]|Hereditary cancer-predisposing syndrome [RCV003162928] |
Chr17:68522865 [GRCh38] Chr17:66519006 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003459542]|Carney complex, type 1 [RCV000645591]|Hereditary cancer-predisposing syndrome [RCV002343316] |
Chr17:68525775 [GRCh38] Chr17:66521916 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.1214C>T (p.Ala405Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003270375] |
Chr17:68426154 [GRCh38] Chr17:66422295 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.360A>G (p.Lys120=) |
single nucleotide variant |
Carney complex, type 1 [RCV000533566] |
Chr17:68523736 [GRCh38] Chr17:66519877 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.470C>T (p.Ser157Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV000536758] |
Chr17:68524045 [GRCh38] Chr17:66520186 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.503-10C>A |
single nucleotide variant |
not provided [RCV000586677] |
Chr17:68524902 [GRCh38] Chr17:66521043 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.894G>C (p.Gly298=) |
single nucleotide variant |
Carney complex, type 1 [RCV000541434]|Hereditary cancer-predisposing syndrome [RCV001018527] |
Chr17:68529922 [GRCh38] Chr17:66526063 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1600T>C (p.Ser534Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003262747] |
Chr17:68537503 [GRCh38] Chr17:66533644 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.473C>T (p.Ala158Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003270011] |
Chr17:68436437 [GRCh38] Chr17:66432578 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.761C>G (p.Ser254Cys) |
single nucleotide variant |
Carney complex, type 1 [RCV000539006]|Hereditary cancer-predisposing syndrome [RCV002395420] |
Chr17:68527892 [GRCh38] Chr17:66524033 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.306T>C (p.Ala102=) |
single nucleotide variant |
Carney complex, type 1 [RCV000865293]|Hereditary cancer-predisposing syndrome [RCV000574344]|not specified [RCV003235294] |
Chr17:68522884 [GRCh38] Chr17:66519025 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-7+14G>C |
single nucleotide variant |
not specified [RCV000616021] |
Chr17:68512562 [GRCh38] Chr17:66508703 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.552C>G (p.Val184=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645592]|Hereditary cancer-predisposing syndrome [RCV002350461]|not specified [RCV000608026] |
Chr17:68525756 [GRCh38] Chr17:66521897 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.597C>T (p.Ser199=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296673] |
Chr17:68525801 [GRCh38] Chr17:66521942 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.128C>A (p.Pro43His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296680] |
Chr17:68515527 [GRCh38] Chr17:66511668 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.183G>A (p.Glu61=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296682] |
Chr17:68522761 [GRCh38] Chr17:66518902 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.60C>G (p.Leu20=) |
single nucleotide variant |
Carney complex, type 1 [RCV000534098]|Hereditary cancer-predisposing syndrome [RCV001024898]|not specified [RCV001824823] |
Chr17:68515459 [GRCh38] Chr17:66511600 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_002734.5(PRKAR1A):c.478G>A (p.Ala160Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV000645603]|Hereditary cancer-predisposing syndrome [RCV002334150] |
Chr17:68524053 [GRCh38] Chr17:66520194 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.528G>A (p.Val176=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645604] |
Chr17:68524937 [GRCh38] Chr17:66521078 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.178-8T>G |
single nucleotide variant |
Carney complex, type 1 [RCV000645605]|not specified [RCV000780648] |
Chr17:68522748 [GRCh38] Chr17:66518889 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.892-5T>C |
single nucleotide variant |
Carney complex, type 1 [RCV000645606] |
Chr17:68529915 [GRCh38] Chr17:66526056 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.693T>C (p.Tyr231=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645607] |
Chr17:68525897 [GRCh38] Chr17:66522038 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.606A>G (p.Glu202=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645608]|Hereditary cancer-predisposing syndrome [RCV002358839] |
Chr17:68525810 [GRCh38] Chr17:66521951 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.550-6C>T |
single nucleotide variant |
Carney complex, type 1 [RCV000645609]|not specified [RCV000781766] |
Chr17:68525748 [GRCh38] Chr17:66521889 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.441-5del |
deletion |
Carney complex, type 1 [RCV000645610]|not provided [RCV003441992]|not specified [RCV001293551] |
Chr17:68524008 [GRCh38] Chr17:66520149 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.525T>C (p.Tyr175=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645611]|Hereditary cancer-predisposing syndrome [RCV002334151] |
Chr17:68524934 [GRCh38] Chr17:66521075 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.303C>T (p.Ser101=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645614]|Hereditary cancer-predisposing syndrome [RCV002255487]|not specified [RCV002469232] |
Chr17:68522881 [GRCh38] Chr17:66519022 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.54T>C (p.Cys18=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645616] |
Chr17:68515453 [GRCh38] Chr17:66511594 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1143C>G (p.Val381=) |
single nucleotide variant |
Carney complex, type 1 [RCV000645602]|Hereditary cancer-predisposing syndrome [RCV001017426] |
Chr17:68530446 [GRCh38] Chr17:66526587 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.764_768del (p.Ile255fs) |
deletion |
Carney complex, type 1 [RCV000645601] |
Chr17:68527893..68527897 [GRCh38] Chr17:66524034..66524038 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.177+1G>A |
single nucleotide variant |
Carney complex, type 1 [RCV000645600] |
Chr17:68515577 [GRCh38] Chr17:66511718 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.974-6C>A |
single nucleotide variant |
Carney complex, type 1 [RCV000645599]|not specified [RCV001175091] |
Chr17:68530271 [GRCh38] Chr17:66526412 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.177+7A>G |
single nucleotide variant |
Carney complex, type 1 [RCV000645598] |
Chr17:68515583 [GRCh38] Chr17:66511724 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.121G>A (p.Ala41Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV000645597]|Hereditary cancer-predisposing syndrome [RCV001010406] |
Chr17:68515520 [GRCh38] Chr17:66511661 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.502+2dup |
duplication |
Carney complex, type 1 [RCV000645596] |
Chr17:68524078..68524079 [GRCh38] Chr17:66520219..66520220 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1088C>T (p.Ser363Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV000645595] |
Chr17:68530391 [GRCh38] Chr17:66526532 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His) |
single nucleotide variant |
Carney complex, type 1 [RCV000645594]|Carney complex, type 1 [RCV002483863]|Hereditary cancer-predisposing syndrome [RCV002386079] |
Chr17:68530328 [GRCh38] Chr17:66526469 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 |
copy number gain |
not provided [RCV000683952] |
Chr17:63689671..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
NM_002734.5(PRKAR1A):c.782A>G (p.Lys261Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV000688438] |
Chr17:68528882 [GRCh38] Chr17:66525023 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV000704084]|Carney complex, type 1 [RCV002485755]|Hereditary cancer-predisposing syndrome [RCV003165901] |
Chr17:68524039 [GRCh38] Chr17:66520180 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.973+3A>T |
single nucleotide variant |
Carney complex, type 1 [RCV000707633] |
Chr17:68530004 [GRCh38] Chr17:66526145 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.885del (p.Thr296fs) |
deletion |
Amelogenesis imperfecta type 1G [RCV000714712] |
Chr17:68542737 [GRCh38] Chr17:66538878 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NC_000017.11:g.(?_68512379)_(68530459_?)del |
deletion |
Carney complex, type 1 [RCV000707990] |
Chr17:68512379..68530459 [GRCh38] Chr17:66508520..66526600 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001123898]|Carney complex, type 1 [RCV000703002]|Hereditary cancer-predisposing syndrome [RCV002325421] |
Chr17:68522909 [GRCh38] Chr17:66519050 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.296C>T (p.Ala99Val) |
single nucleotide variant |
Carney complex, type 1 [RCV000691927] |
Chr17:68522874 [GRCh38] Chr17:66519015 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.11:g.(?_68515394)_(68530455_?)del |
deletion |
Carney complex, type 1 [RCV000708436] |
Chr17:68515394..68530455 [GRCh38] Chr17:66511535..66526596 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.671G>A (p.Trp224Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV000697266] |
Chr17:68525875 [GRCh38] Chr17:66522016 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.349-5T>C |
single nucleotide variant |
Carney complex, type 1 [RCV000704003] |
Chr17:68523720 [GRCh38] Chr17:66519861 [GRCh37] Chr17:17q24.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002734.5(PRKAR1A):c.151A>G (p.Arg51Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV000695293]|Hereditary cancer-predisposing syndrome [RCV001011959] |
Chr17:68515550 [GRCh38] Chr17:66511691 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.892-26_905del |
deletion |
Carney complex, type 1 [RCV000695655] |
Chr17:68529891..68529930 [GRCh38] Chr17:66526032..66526071 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.101C>G (p.Ser34Cys) |
single nucleotide variant |
Carney complex, type 1 [RCV000704942]|Hereditary cancer-predisposing syndrome [RCV001009718] |
Chr17:68515500 [GRCh38] Chr17:66511641 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.838C>G (p.Gln280Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV000690842] |
Chr17:68528938 [GRCh38] Chr17:66525079 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.812dup (p.Leu271fs) |
duplication |
Carney complex, type 1 [RCV000696479]|not provided [RCV002469265] |
Chr17:68528910..68528911 [GRCh38] Chr17:66525051..66525052 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.662_663del (p.Val221fs) |
microsatellite |
Carney complex, type 1 [RCV000691594] |
Chr17:68525864..68525865 [GRCh38] Chr17:66522005..66522006 [GRCh37] Chr17:17q24.2 |
pathogenic |
NC_000017.11:g.(?_68515384)_(68529001_?)del |
deletion |
Carney complex, type 1 [RCV000708317] |
Chr17:68515384..68529001 [GRCh38] Chr17:66511525..66525142 [GRCh37] Chr17:17q24.2 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_002734.5(PRKAR1A):c.708+134_708+135insCT |
insertion |
not provided [RCV001537592] |
Chr17:68526045..68526046 [GRCh38] Chr17:66522186..66522187 [GRCh37] Chr17:17q24.2 |
benign |
NM_017565.4(FAM20A):c.812+49C>T |
single nucleotide variant |
not provided [RCV001609512] |
Chr17:68543580 [GRCh38] Chr17:66539721 [GRCh37] Chr17:17q24.2 |
benign |
NM_017565.4(FAM20A):c.1231C>A (p.Arg411=) |
single nucleotide variant |
not provided [RCV000962618] |
Chr17:68539955 [GRCh38] Chr17:66536096 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.770-154A>G |
single nucleotide variant |
not provided [RCV001545194] |
Chr17:68528716 [GRCh38] Chr17:66524857 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.769+10A>T |
single nucleotide variant |
Carney complex, type 1 [RCV000874875] |
Chr17:68527910 [GRCh38] Chr17:66524051 [GRCh37] Chr17:17q24.2 |
likely benign |
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 |
copy number gain |
not provided [RCV000762750] |
Chr17:64159738..74891024 [GRCh37] Chr17:17q24.1-25.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.438A>T (p.Arg146Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV001044560] |
Chr17:68523814 [GRCh38] Chr17:66519955 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.549+233C>T |
single nucleotide variant |
not provided [RCV001568498] |
Chr17:68525191 [GRCh38] Chr17:66521332 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.546G>T (p.Thr182=) |
single nucleotide variant |
Carney complex, type 1 [RCV001437302] |
Chr17:68524955 [GRCh38] Chr17:66521096 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.237G>A (p.Glu79=) |
single nucleotide variant |
Carney complex, type 1 [RCV000868311]|Hereditary cancer-predisposing syndrome [RCV002256567] |
Chr17:68522815 [GRCh38] Chr17:66518956 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.252T>G (p.Pro84=) |
single nucleotide variant |
Carney complex, type 1 [RCV001404633]|Hereditary cancer-predisposing syndrome [RCV002427256] |
Chr17:68522830 [GRCh38] Chr17:66518971 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-6-5C>T |
single nucleotide variant |
Carney complex, type 1 [RCV000868531] |
Chr17:68515389 [GRCh38] Chr17:66511530 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1110C>T (p.Ile370=) |
single nucleotide variant |
Carney complex, type 1 [RCV000870296]|Hereditary cancer-predisposing syndrome [RCV001017329] |
Chr17:68530413 [GRCh38] Chr17:66526554 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1485C>T (p.Asn495=) |
single nucleotide variant |
not provided [RCV000949010] |
Chr17:68420370 [GRCh38] Chr17:66416511 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.892-6T>C |
single nucleotide variant |
Carney complex, type 1 [RCV000981620] |
Chr17:68529914 [GRCh38] Chr17:66526055 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.144A>G (p.Ala48=) |
single nucleotide variant |
Carney complex, type 1 [RCV001462276]|Hereditary cancer-predisposing syndrome [RCV001011639] |
Chr17:68515543 [GRCh38] Chr17:66511684 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.336C>T (p.Ser112=) |
single nucleotide variant |
Carney complex, type 1 [RCV001484783] |
Chr17:68522914 [GRCh38] Chr17:66519055 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.892-4A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001473650]|Hereditary cancer-predisposing syndrome [RCV003169208] |
Chr17:68529916 [GRCh38] Chr17:66526057 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-6-4G>C |
single nucleotide variant |
Carney complex, type 1 [RCV000864196] |
Chr17:68515390 [GRCh38] Chr17:66511531 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.153G>A (p.Arg51=) |
single nucleotide variant |
Carney complex, type 1 [RCV001434551]|Hereditary cancer-predisposing syndrome [RCV002400017] |
Chr17:68515552 [GRCh38] Chr17:66511693 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.378C>T (p.Ala126=) |
single nucleotide variant |
Carney complex, type 1 [RCV000881192]|Hereditary cancer-predisposing syndrome [RCV001021142]|not specified [RCV001420940] |
Chr17:68523754 [GRCh38] Chr17:66519895 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1478T>C (p.Ile493Thr) |
single nucleotide variant |
not provided [RCV000906522] |
Chr17:68420363 [GRCh38] Chr17:66416504 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1014A>G (p.Thr338=) |
single nucleotide variant |
Carney complex, type 1 [RCV001430037]|Hereditary cancer-predisposing syndrome [RCV002327194] |
Chr17:68530317 [GRCh38] Chr17:66526458 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+6G>A |
single nucleotide variant |
Carney complex, type 1 [RCV001041033] |
Chr17:68524083 [GRCh38] Chr17:66520224 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-9C>G |
single nucleotide variant |
Carney complex, type 1 [RCV001062189] |
Chr17:68512546 [GRCh38] Chr17:66508687 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.11:g.(?_68512379)_(68524087_?)del |
deletion |
Carney complex, type 1 [RCV001033415] |
Chr17:66508520..66520228 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.240T>G (p.Asp80Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV001060519]|Hereditary cancer-predisposing syndrome [RCV002445317] |
Chr17:68522818 [GRCh38] Chr17:66518959 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.127C>T (p.Pro43Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV001038621]|Hereditary cancer-predisposing syndrome [RCV003160245] |
Chr17:68515526 [GRCh38] Chr17:66511667 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.988C>G (p.Leu330Val) |
single nucleotide variant |
Carney complex, type 1 [RCV001054238] |
Chr17:68530291 [GRCh38] Chr17:66526432 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.155A>G (p.Glu52Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV000793734] |
Chr17:68515554 [GRCh38] Chr17:66511695 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.506A>G (p.Asp169Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV000791860]|Hereditary cancer-predisposing syndrome [RCV003166085] |
Chr17:68524915 [GRCh38] Chr17:66521056 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.917G>A (p.Arg306Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442604]|not specified [RCV000781767] |
Chr17:68529945 [GRCh38] Chr17:66526086 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.27T>G (p.Ser9Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV001856199]|Hereditary cancer-predisposing syndrome [RCV001016643]|not specified [RCV000781768] |
Chr17:68515426 [GRCh38] Chr17:66511567 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.792C>T (p.Ile264=) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002505324]|not provided [RCV000906712] |
Chr17:68543649 [GRCh38] Chr17:66539790 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.759C>T (p.Val253=) |
single nucleotide variant |
Carney complex, type 1 [RCV002065954]|Hereditary cancer-predisposing syndrome [RCV002390919] |
Chr17:68527890 [GRCh38] Chr17:66524031 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.81T>C (p.Ile27=) |
single nucleotide variant |
Carney complex, type 1 [RCV001502281]|Hereditary cancer-predisposing syndrome [RCV002427379] |
Chr17:68515480 [GRCh38] Chr17:66511621 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.984A>G (p.Ala328=) |
single nucleotide variant |
Carney complex, type 1 [RCV001408683]|Hereditary cancer-predisposing syndrome [RCV002258045]|not specified [RCV002509581] |
Chr17:68530287 [GRCh38] Chr17:66526428 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1109+10T>G |
single nucleotide variant |
not provided [RCV000931249] |
Chr17:68541975 [GRCh38] Chr17:66538116 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1479C>A (p.Pro493=) |
single nucleotide variant |
not provided [RCV000918272] |
Chr17:68537624 [GRCh38] Chr17:66533765 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.891+9C>T |
single nucleotide variant |
Carney complex, type 1 [RCV001501033] |
Chr17:68529000 [GRCh38] Chr17:66525141 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017983.7(WIPI1):c.1192+4G>A |
single nucleotide variant |
not provided [RCV000968749] |
Chr17:68427131 [GRCh38] Chr17:66423272 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.810A>G (p.Ala270=) |
single nucleotide variant |
Carney complex, type 1 [RCV000952094]|Hereditary cancer-predisposing syndrome [RCV001027183]|not specified [RCV003323766] |
Chr17:68528910 [GRCh38] Chr17:66525051 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1133C>T (p.Ser378Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009960]|not specified [RCV000780649] |
Chr17:68530436 [GRCh38] Chr17:66526577 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.327T>C (p.Asp109=) |
single nucleotide variant |
Carney complex, type 1 [RCV002068978]|Hereditary cancer-predisposing syndrome [RCV001019637] |
Chr17:68522905 [GRCh38] Chr17:66519046 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.535C>G (p.Gln179Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV000802492]|Hereditary cancer-predisposing syndrome [RCV002345792] |
Chr17:68524944 [GRCh38] Chr17:66521085 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.4G>C (p.Glu2Gln) |
single nucleotide variant |
Carney complex, type 1 [RCV000804490] |
Chr17:68515403 [GRCh38] Chr17:66511544 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.577A>G (p.Ser193Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV000800943] |
Chr17:68525781 [GRCh38] Chr17:66521922 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV000822963] |
Chr17:68529987 [GRCh38] Chr17:66526128 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.196C>A (p.Gln66Lys) |
single nucleotide variant |
Carney complex, type 1 [RCV000821075] |
Chr17:68522774 [GRCh38] Chr17:66518915 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.850G>A (p.Val284Met) |
single nucleotide variant |
Carney complex, type 1 [RCV000813664]|Hereditary cancer-predisposing syndrome [RCV003166324] |
Chr17:68528950 [GRCh38] Chr17:66525091 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.13A>C (p.Ser5Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV000797705] |
Chr17:68515412 [GRCh38] Chr17:66511553 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.626C>T (p.Thr209Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV000816338] |
Chr17:68525830 [GRCh38] Chr17:66521971 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.178-3C>T |
single nucleotide variant |
Carney complex, type 1 [RCV000794736]|Hereditary cancer-predisposing syndrome [RCV001013169] |
Chr17:68522753 [GRCh38] Chr17:66518894 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.35C>G (p.Ala12Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV000818013]|Hereditary cancer-predisposing syndrome [RCV002453867]|not provided [RCV002285417] |
Chr17:68515434 [GRCh38] Chr17:66511575 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV000791638]|Carney complex, type 1 [RCV002487631]|Hereditary cancer-predisposing syndrome [RCV002424789]|not specified [RCV002249500] |
Chr17:68515424 [GRCh38] Chr17:66511565 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1031C>T (p.Pro344Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV000816575] |
Chr17:68530334 [GRCh38] Chr17:66526475 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1079G>T (p.Gly360Val) |
single nucleotide variant |
Carney complex, type 1 [RCV000801888] |
Chr17:68530382 [GRCh38] Chr17:66526523 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.620A>G (p.Tyr207Cys) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV000791348] |
Chr17:68525824 [GRCh38] Chr17:66521965 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del) |
microsatellite |
Carney complex, type 1 [RCV000798665]|Carney complex, type 1 [RCV002495059] |
Chr17:68523799..68523801 [GRCh38] Chr17:66519940..66519942 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.891+6G>T |
single nucleotide variant |
Carney complex, type 1 [RCV000808734]|not specified [RCV003330961] |
Chr17:68528997 [GRCh38] Chr17:66525138 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003461254]|Carney complex, type 1 [RCV000818686]|Hereditary cancer-predisposing syndrome [RCV002427034] |
Chr17:68515524 [GRCh38] Chr17:66511665 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.317C>T (p.Thr106Met) |
single nucleotide variant |
Carney complex, type 1 [RCV000815584]|Hereditary cancer-predisposing syndrome [RCV003166346] |
Chr17:68522895 [GRCh38] Chr17:66519036 [GRCh37] Chr17:17q24.2 |
uncertain significance |
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 |
copy number gain |
not provided [RCV000845965] |
Chr17:57869604..67078443 [GRCh37] Chr17:17q23.1-24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.280AGG[1] (p.Arg97del) |
microsatellite |
Carney complex, type 1 [RCV000800473] |
Chr17:68522858..68522860 [GRCh38] Chr17:66518999..66519001 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.218C>G (p.Thr73Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV000813553]|Hereditary cancer-predisposing syndrome [RCV002424915] |
Chr17:68522796 [GRCh38] Chr17:66518937 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.972T>C (p.Phe324=) |
single nucleotide variant |
Carney complex, type 1 [RCV000807818]|Hereditary cancer-predisposing syndrome [RCV003380737] |
Chr17:68530000 [GRCh38] Chr17:66526141 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.502+209C>T |
single nucleotide variant |
not provided [RCV000836504] |
Chr17:68524286 [GRCh38] Chr17:66520427 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.-6-236C>T |
single nucleotide variant |
not provided [RCV000836508] |
Chr17:68515158 [GRCh38] Chr17:66511299 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.166A>G (p.Arg56Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV000798435] |
Chr17:68515565 [GRCh38] Chr17:66511706 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.218C>T (p.Thr73Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV001044722]|Hereditary cancer-predisposing syndrome [RCV002258098] |
Chr17:68522796 [GRCh38] Chr17:66518937 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.260C>T (p.Pro87Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV000793883]|Hereditary cancer-predisposing syndrome [RCV002440629]|not provided [RCV003442072] |
Chr17:68522838 [GRCh38] Chr17:66518979 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1062A>G (p.Arg354=) |
single nucleotide variant |
Carney complex, type 1 [RCV000814852]|Hereditary cancer-predisposing syndrome [RCV002406849] |
Chr17:68530365 [GRCh38] Chr17:66526506 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.178-234A>G |
single nucleotide variant |
not provided [RCV000836503] |
Chr17:68522522 [GRCh38] Chr17:66518663 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.708+142A>G |
single nucleotide variant |
not provided [RCV000836509] |
Chr17:68526054 [GRCh38] Chr17:66522195 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.709-209G>A |
single nucleotide variant |
not provided [RCV000836510] |
Chr17:68527631 [GRCh38] Chr17:66523772 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.320A>C (p.Glu107Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV000798834]|Hereditary cancer-predisposing syndrome [RCV003307451] |
Chr17:68522898 [GRCh38] Chr17:66519039 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.73C>T (p.His25Tyr) |
single nucleotide variant |
Carney complex, type 1 [RCV000818450]|Hereditary cancer-predisposing syndrome [RCV001026388] |
Chr17:68515472 [GRCh38] Chr17:66511613 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.837G>C (p.Gly279=) |
single nucleotide variant |
Carney complex, type 1 [RCV000941957] |
Chr17:68528937 [GRCh38] Chr17:66525078 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.86C>T (p.Ala29Val) |
single nucleotide variant |
Carney complex, type 1 [RCV000812651]|Hereditary cancer-predisposing syndrome [RCV002372282] |
Chr17:68515485 [GRCh38] Chr17:66511626 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.221G>C (p.Arg74Pro) |
single nucleotide variant |
Carney complex, type 1 [RCV000803499]|Hereditary cancer-predisposing syndrome [RCV003372858] |
Chr17:68522799 [GRCh38] Chr17:66518940 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.93C>T (p.Leu31=) |
single nucleotide variant |
Carney complex, type 1 [RCV001450777] |
Chr17:68515492 [GRCh38] Chr17:66511633 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.567A>T (p.Glu189Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV000797242] |
Chr17:68525771 [GRCh38] Chr17:66521912 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.733A>G (p.Met245Val) |
single nucleotide variant |
Carney complex, type 1 [RCV000816902]|Hereditary cancer-predisposing syndrome [RCV003307531] |
Chr17:68527864 [GRCh38] Chr17:66524005 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.264C>T (p.Asn88=) |
single nucleotide variant |
Carney complex, type 1 [RCV001393587] |
Chr17:68522842 [GRCh38] Chr17:66518983 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1081C>G (p.Pro361Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV000820457] |
Chr17:68530384 [GRCh38] Chr17:66526525 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003461074]|Carney complex, type 1 [RCV000793341]|Hereditary cancer-predisposing syndrome [RCV002458413] |
Chr17:68523731 [GRCh38] Chr17:66519872 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.813G>A (p.Leu271=) |
single nucleotide variant |
Carney complex, type 1 [RCV001462577]|Hereditary cancer-predisposing syndrome [RCV002418654]|not specified [RCV001194341] |
Chr17:68528913 [GRCh38] Chr17:66525054 [GRCh37] Chr17:17q24.2 |
likely benign |
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 |
copy number gain |
not provided [RCV000849900] |
Chr17:62778720..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
NM_002734.5(PRKAR1A):c.436A>G (p.Arg146Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV001068162] |
Chr17:68523812 [GRCh38] Chr17:66519953 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.523del (p.Tyr175fs) |
deletion |
not provided [RCV001008377] |
Chr17:68524932 [GRCh38] Chr17:66521073 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.502+3A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001307527]|Hereditary cancer-predisposing syndrome [RCV001023437] |
Chr17:68524080 [GRCh38] Chr17:66520221 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.441-6T>C |
single nucleotide variant |
Carney complex, type 1 [RCV001450611]|not specified [RCV001194342] |
Chr17:68524010 [GRCh38] Chr17:66520151 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.480A>T (p.Ala160=) |
single nucleotide variant |
Carney complex, type 1 [RCV001455066]|Hereditary cancer-predisposing syndrome [RCV001023090] |
Chr17:68524055 [GRCh38] Chr17:66520196 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.4(PRKAR1A):c.770_771del |
microsatellite |
Carney complex, type 1 [RCV001202273] |
Chr17:68528868..68528869 [GRCh38] Chr17:66525009..66525010 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.531_534del (p.Asp178fs) |
microsatellite |
Carney complex, type 1 [RCV001223560] |
Chr17:68524936..68524939 [GRCh38] Chr17:66521077..66521080 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.-7+6_-7+31del |
deletion |
Carney complex, type 1 [RCV001240127] |
Chr17:68512551..68512576 [GRCh38] Chr17:66508692..66508717 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1097T>G (p.Leu366Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV001215813] |
Chr17:68530400 [GRCh38] Chr17:66526541 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.82C>G (p.Gln28Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV001226660]|Hereditary cancer-predisposing syndrome [RCV002429962] |
Chr17:68515481 [GRCh38] Chr17:66511622 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002504275]|Inborn genetic diseases [RCV002563007]|not provided [RCV001220439] |
Chr17:68540893 [GRCh38] Chr17:66537034 [GRCh37] Chr17:17q24.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002734.5(PRKAR1A):c.122C>A (p.Ala41Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV001239978] |
Chr17:68515521 [GRCh38] Chr17:66511662 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.173_177+1dup |
duplication |
Carney complex, type 1 [RCV001239997] |
Chr17:68515569..68515570 [GRCh38] Chr17:66511710..66511711 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003462768]|Carney complex, type 1 [RCV001225158]|Hereditary cancer-predisposing syndrome [RCV002356956] |
Chr17:68515436 [GRCh38] Chr17:66511577 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.22G>A (p.Ala8Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV001221178]|Hereditary cancer-predisposing syndrome [RCV002447114] |
Chr17:68515421 [GRCh38] Chr17:66511562 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.526G>A (p.Val176Met) |
single nucleotide variant |
Carney complex, type 1 [RCV001238337] |
Chr17:68524935 [GRCh38] Chr17:66521076 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.23C>A (p.Ala8Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV001210388] |
Chr17:68515422 [GRCh38] Chr17:66511563 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.426T>A (p.Asp142Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV001222074] |
Chr17:68523802 [GRCh38] Chr17:66519943 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.827T>C (p.Phe276Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV001207530]|Hereditary cancer-predisposing syndrome [RCV002429887] |
Chr17:68528927 [GRCh38] Chr17:66525068 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.891+4A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001225629] |
Chr17:68528995 [GRCh38] Chr17:66525136 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.238G>T (p.Asp80Tyr) |
single nucleotide variant |
Carney complex, type 1 [RCV001216667]|Hereditary cancer-predisposing syndrome [RCV002451483] |
Chr17:68522816 [GRCh38] Chr17:66518957 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_017983.7(WIPI1):c.1184C>T (p.Thr395Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003240489] |
Chr17:68427143 [GRCh38] Chr17:66423284 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1687T>C |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001126877]|Carney complex, type 1 [RCV001126878] |
Chr17:68532136 [GRCh38] Chr17:66528277 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.301A>C (p.Ser101Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV001228583] |
Chr17:68522879 [GRCh38] Chr17:66519020 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*2089A>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001124296]|Carney complex, type 1 [RCV001124295] |
Chr17:68532538 [GRCh38] Chr17:66528679 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*2152T>C |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001124299]|Carney complex, type 1 [RCV001124300] |
Chr17:68532601 [GRCh38] Chr17:66528742 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.387C>G (p.Ala129=) |
single nucleotide variant |
Carney complex, type 1 [RCV001490889]|Hereditary cancer-predisposing syndrome [RCV001021340]|not specified [RCV001532960] |
Chr17:68523763 [GRCh38] Chr17:66519904 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1486G>A (p.Asp496Asn) |
single nucleotide variant |
not provided [RCV001061527] |
Chr17:68420371 [GRCh38] Chr17:66416512 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1082G>A (p.Arg361His) |
single nucleotide variant |
not provided [RCV003112483] |
Chr17:68542012 [GRCh38] Chr17:66538153 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.974C>T (p.Thr325Met) |
single nucleotide variant |
not provided [RCV003105032] |
Chr17:68542120 [GRCh38] Chr17:66538261 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1302-209G>A |
single nucleotide variant |
not provided [RCV001644004] |
Chr17:68539605 [GRCh38] Chr17:66535746 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.892-126A>C |
single nucleotide variant |
not provided [RCV001596548] |
Chr17:68529794 [GRCh38] Chr17:66525935 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.770-256C>T |
single nucleotide variant |
not provided [RCV001716040] |
Chr17:68528614 [GRCh38] Chr17:66524755 [GRCh37] Chr17:17q24.2 |
benign |
NM_017565.4(FAM20A):c.813-62A>G |
single nucleotide variant |
not provided [RCV001668915] |
Chr17:68542871 [GRCh38] Chr17:66539012 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.502+26T>C |
single nucleotide variant |
not provided [RCV001562340] |
Chr17:68524103 [GRCh38] Chr17:66520244 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1219+241G>A |
single nucleotide variant |
not provided [RCV001687366] |
Chr17:68540608 [GRCh38] Chr17:66536749 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.178-116del |
deletion |
not provided [RCV001694386] |
Chr17:68522640 [GRCh38] Chr17:66518781 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.892-2A>G |
single nucleotide variant |
not provided [RCV001557904] |
Chr17:68529918 [GRCh38] Chr17:66526059 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.1220-187C>A |
single nucleotide variant |
not provided [RCV001714824] |
Chr17:68540153 [GRCh38] Chr17:66536294 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.-6-312C>T |
single nucleotide variant |
not provided [RCV001558325] |
Chr17:68515082 [GRCh38] Chr17:66511223 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017983.7(WIPI1):c.950T>A (p.Ile317Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003272621] |
Chr17:68430011 [GRCh38] Chr17:66426152 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.825G>A (p.Gln275=) |
single nucleotide variant |
Carney complex, type 1 [RCV000872985]|Hereditary cancer-predisposing syndrome [RCV002427187] |
Chr17:68528925 [GRCh38] Chr17:66525066 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1240T>C (p.Tyr414His) |
single nucleotide variant |
not provided [RCV000885896] |
Chr17:68539946 [GRCh38] Chr17:66536087 [GRCh37] Chr17:17q24.2 |
benign |
NM_017983.7(WIPI1):c.923G>A (p.Arg308His) |
single nucleotide variant |
not provided [RCV000889145] |
Chr17:68430038 [GRCh38] Chr17:66426179 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.177+9A>G |
single nucleotide variant |
not provided [RCV000930970] |
Chr17:68515585 [GRCh38] Chr17:66511726 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1206C>T (p.Phe402=) |
single nucleotide variant |
not provided [RCV000888025] |
Chr17:68540862 [GRCh38] Chr17:66537003 [GRCh37] Chr17:17q24.2 |
benign |
NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln) |
single nucleotide variant |
Neural tube defect [RCV000853418] |
Chr17:68428919 [GRCh38] Chr17:66425060 [GRCh37] Chr17:17q24.2 |
affects |
NM_002734.5(PRKAR1A):c.750T>G (p.Leu250=) |
single nucleotide variant |
Carney complex, type 1 [RCV001464800]|Hereditary cancer-predisposing syndrome [RCV001026518] |
Chr17:68527881 [GRCh38] Chr17:66524022 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1098C>T (p.Leu366=) |
single nucleotide variant |
Carney complex, type 1 [RCV000972603]|Hereditary cancer-predisposing syndrome [RCV001017283] |
Chr17:68530401 [GRCh38] Chr17:66526542 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1083A>G (p.Pro361=) |
single nucleotide variant |
Carney complex, type 1 [RCV001505771]|Hereditary cancer-predisposing syndrome [RCV002427192]|not provided [RCV003424415] |
Chr17:68530386 [GRCh38] Chr17:66526527 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017983.7(WIPI1):c.237A>G (p.Lys79=) |
single nucleotide variant |
not provided [RCV000974136] |
Chr17:68450824 [GRCh38] Chr17:66446965 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.39C>T (p.Arg13=) |
single nucleotide variant |
Carney complex, type 1 [RCV002542167] |
Chr17:68515438 [GRCh38] Chr17:66511579 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1432C>A (p.Arg478=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256594]|not provided [RCV000910918] |
Chr17:68537671 [GRCh38] Chr17:66533812 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.465G>A (p.Ser155=) |
single nucleotide variant |
Carney complex, type 1 [RCV001365233]|Hereditary cancer-predisposing syndrome [RCV002327458]|not specified [RCV001193679] |
Chr17:68524040 [GRCh38] Chr17:66520181 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.*560G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001126663]|Carney complex, type 1 [RCV001126662] |
Chr17:68531009 [GRCh38] Chr17:66527150 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.781A>G (p.Lys261Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV001035988]|Hereditary cancer-predisposing syndrome [RCV002409362] |
Chr17:68528881 [GRCh38] Chr17:66525022 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.137C>A (p.Pro46His) |
single nucleotide variant |
Carney complex, type 1 [RCV001203778]|Hereditary cancer-predisposing syndrome [RCV002379772] |
Chr17:68515536 [GRCh38] Chr17:66511677 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.997C>T (p.Arg333Cys) |
single nucleotide variant |
Carney complex, type 1 [RCV001219933] |
Chr17:68530300 [GRCh38] Chr17:66526441 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*331G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001123993]|Carney complex, type 1 [RCV001123994] |
Chr17:68530780 [GRCh38] Chr17:66526921 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.64G>A (p.Val22Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV001231257]|Hereditary cancer-predisposing syndrome [RCV003373063] |
Chr17:68515463 [GRCh38] Chr17:66511604 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.507T>A (p.Asp169Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV001243952] |
Chr17:68524916 [GRCh38] Chr17:66521057 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.184G>A (p.Ala62Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV001234902]|Hereditary cancer-predisposing syndrome [RCV003380917] |
Chr17:68522762 [GRCh38] Chr17:66518903 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.11:g.(?_68522746)_(68530459_?)del |
deletion |
Carney complex, type 1 [RCV001031652] |
Chr17:66518887..66526600 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.-11C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001126458]|Carney complex, type 1 [RCV001034319] |
Chr17:68512544 [GRCh38] Chr17:66508685 [GRCh37] Chr17:17q24.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002734.5(PRKAR1A):c.534T>G (p.Asp178Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV001243932]|Hereditary cancer-predisposing syndrome [RCV002348828]|not provided [RCV001358335] |
Chr17:68524943 [GRCh38] Chr17:66521084 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1343T>C (p.Leu448Pro) |
single nucleotide variant |
not provided [RCV001241704] |
Chr17:68420228 [GRCh38] Chr17:66416369 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1314C>T (p.His438=) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002502753]|not provided [RCV000913493] |
Chr17:68539384 [GRCh38] Chr17:66535525 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.522C>T (p.Phe174=) |
single nucleotide variant |
Carney complex, type 1 [RCV000911655]|Hereditary cancer-predisposing syndrome [RCV002336899]|not specified [RCV001194343] |
Chr17:68524931 [GRCh38] Chr17:66521072 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.*210G>A |
single nucleotide variant |
not provided [RCV001656834] |
Chr17:68537267 [GRCh38] Chr17:66533408 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.770-24G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001789485]|Carney complex, type 1 [RCV001789484]|not provided [RCV001660853] |
Chr17:68528846 [GRCh38] Chr17:66524987 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.-6-2A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002032588]|not provided [RCV001551776] |
Chr17:68515392 [GRCh38] Chr17:66511533 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_017565.4(FAM20A):c.1220-107_1220-106del |
deletion |
not provided [RCV001635753] |
Chr17:68540072..68540073 [GRCh38] Chr17:66536213..66536214 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.499C>T (p.Gln167Ter) |
single nucleotide variant |
not provided [RCV001569074] |
Chr17:68524074 [GRCh38] Chr17:66520215 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.-6-711A>G |
single nucleotide variant |
not provided [RCV001687552] |
Chr17:68514683 [GRCh38] Chr17:66510824 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.-69A>G |
single nucleotide variant |
not provided [RCV001639681] |
Chr17:68512486 [GRCh38] Chr17:66508627 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.957del (p.Pro320fs) |
deletion |
not provided [RCV001664986] |
Chr17:68529982 [GRCh38] Chr17:66526123 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_212471.3(PRKAR1A):c.-7+169G>T |
single nucleotide variant |
not provided [RCV001655169] |
Chr17:68512311 [GRCh38] Chr17:66508452 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.503-246_503-245insGT |
insertion |
not provided [RCV001641116] |
Chr17:68524665..68524666 [GRCh38] Chr17:66520806..66520807 [GRCh37] Chr17:17q24.2 |
benign |
NM_017565.4(FAM20A):c.929-112C>T |
single nucleotide variant |
not provided [RCV001635585] |
Chr17:68542277 [GRCh38] Chr17:66538418 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.502+117dup |
duplication |
not provided [RCV001694795] |
Chr17:68524184..68524185 [GRCh38] Chr17:66520325..66520326 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.550-234T>C |
single nucleotide variant |
not provided [RCV001590679] |
Chr17:68525520 [GRCh38] Chr17:66521661 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.937G>T (p.Val313Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019244] |
Chr17:68529965 [GRCh38] Chr17:66526106 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.*32C>T |
single nucleotide variant |
not provided [RCV001657111] |
Chr17:68420495 [GRCh38] Chr17:66416636 [GRCh37] Chr17:17q24.2 |
benign |
NM_212471.3(PRKAR1A):c.-47C>A |
single nucleotide variant |
not provided [RCV001722695] |
Chr17:68512102 [GRCh38] Chr17:66508243 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.1110C>A (p.Ile370=) |
single nucleotide variant |
not specified [RCV001194344] |
Chr17:68530413 [GRCh38] Chr17:66526554 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.338A>G (p.Tyr113Cys) |
single nucleotide variant |
Carney complex, type 1 [RCV001050559]|Hereditary cancer-predisposing syndrome [RCV002451205] |
Chr17:68522916 [GRCh38] Chr17:66519057 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1085G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001127173]|Carney complex, type 1 [RCV001127174] |
Chr17:68531534 [GRCh38] Chr17:66527675 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1111C>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001127175]|Carney complex, type 1 [RCV001127176] |
Chr17:68531560 [GRCh38] Chr17:66527701 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*535T>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001126660]|Carney complex, type 1 [RCV001126661] |
Chr17:68530984 [GRCh38] Chr17:66527125 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*609C>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001126665]|Carney complex, type 1 [RCV001126664] |
Chr17:68531058 [GRCh38] Chr17:66527199 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1057G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001126761]|Carney complex, type 1 [RCV001127172] |
Chr17:68531506 [GRCh38] Chr17:66527647 [GRCh37] Chr17:17q24.2 |
benign |
NC_000017.11:g.(?_68512379)_(68515586_?)del |
deletion |
Carney complex, type 1 [RCV001031115] |
Chr17:66508520..66511727 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.25A>C (p.Ser9Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV001059245]|Hereditary cancer-predisposing syndrome [RCV001016062]|not specified [RCV001193680] |
Chr17:68515424 [GRCh38] Chr17:66511565 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1838A>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001127271]|Carney complex, type 1 [RCV001127270] |
Chr17:68532287 [GRCh38] Chr17:66528428 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*2844A>C |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001127375]|Carney complex, type 1 [RCV001127376] |
Chr17:68533293 [GRCh38] Chr17:66529434 [GRCh37] Chr17:17q24.2 |
benign |
NM_001276290.1(PRKAR1A):c.973+3439G>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001127379]|Carney complex, type 1 [RCV001127380] |
Chr17:68533440 [GRCh38] Chr17:66529581 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.666A>G (p.Lys222=) |
single nucleotide variant |
Carney complex, type 1 [RCV002067689]|Hereditary cancer-predisposing syndrome [RCV001025510] |
Chr17:68525870 [GRCh38] Chr17:66522011 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.*1949G>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001123205]|Carney complex, type 1 [RCV001123204] |
Chr17:68532398 [GRCh38] Chr17:66528539 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001128516]|Carney complex, type 1 [RCV001128517]|Hereditary cancer-predisposing syndrome [RCV002436716] |
Chr17:68515427 [GRCh38] Chr17:66511568 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*1640C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001124192]|Carney complex, type 1 [RCV001126876] |
Chr17:68532089 [GRCh38] Chr17:66528230 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*2114G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001124298]|Carney complex, type 1 [RCV001124297] |
Chr17:68532563 [GRCh38] Chr17:66528704 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.900T>A (p.Ala300=) |
single nucleotide variant |
Carney complex, type 1 [RCV001446935]|Hereditary cancer-predisposing syndrome [RCV001018637] |
Chr17:68529928 [GRCh38] Chr17:66526069 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1220-112C>G |
single nucleotide variant |
not provided [RCV001652633] |
Chr17:68540078 [GRCh38] Chr17:66536219 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.550-18A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002073254]|not provided [RCV001695845] |
Chr17:68525736 [GRCh38] Chr17:66521877 [GRCh37] Chr17:17q24.2 |
benign |
NM_017565.4(FAM20A):c.1362-97G>C |
single nucleotide variant |
not provided [RCV001647993] |
Chr17:68537838 [GRCh38] Chr17:66533979 [GRCh37] Chr17:17q24.2 |
benign |
NM_017565.4(FAM20A):c.1110-275C>A |
single nucleotide variant |
not provided [RCV001616267] |
Chr17:68541233 [GRCh38] Chr17:66537374 [GRCh37] Chr17:17q24.2 |
benign |
NM_017565.4(FAM20A):c.1362-263T>C |
single nucleotide variant |
not provided [RCV001709865] |
Chr17:68538004 [GRCh38] Chr17:66534145 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1441G>A (p.Glu481Lys) |
single nucleotide variant |
not provided [RCV001064497] |
Chr17:68420326 [GRCh38] Chr17:66416467 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.891+332T>A |
single nucleotide variant |
not provided [RCV001613669] |
Chr17:68529323 [GRCh38] Chr17:66525464 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.936T>C (p.Phe312=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019225] |
Chr17:68529964 [GRCh38] Chr17:66526105 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) |
single nucleotide variant |
Carney complex, type 1 [RCV001242917]|Carney complex, type 1 [RCV002479223]|Hereditary cancer-predisposing syndrome [RCV001027021] |
Chr17:68528897 [GRCh38] Chr17:66525038 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1378C>T (p.Leu460Phe) |
single nucleotide variant |
not provided [RCV001235824] |
Chr17:68537725 [GRCh38] Chr17:66533866 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.391G>A (p.Ala131Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV001042009] |
Chr17:68523767 [GRCh38] Chr17:66519908 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.527T>A (p.Val176Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV001212334] |
Chr17:68524936 [GRCh38] Chr17:66521077 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*812A>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001123028]|Carney complex, type 1 [RCV001124098] |
Chr17:68531261 [GRCh38] Chr17:66527402 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.554A>G (p.Tyr185Cys) |
single nucleotide variant |
Carney complex, type 1 [RCV001219149]|Hereditary cancer-predisposing syndrome [RCV002348733] |
Chr17:68525758 [GRCh38] Chr17:66521899 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.139A>G (p.Met47Val) |
single nucleotide variant |
Carney complex, type 1 [RCV001049581]|Hereditary cancer-predisposing syndrome [RCV001011385]|not provided [RCV002550766] |
Chr17:68515538 [GRCh38] Chr17:66511679 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.59T>G (p.Leu20Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024779] |
Chr17:68515458 [GRCh38] Chr17:66511599 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-7+1G>C |
single nucleotide variant |
Carney complex, type 1 [RCV001232313] |
Chr17:68512549 [GRCh38] Chr17:66508690 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.683G>A (p.Arg228Gln) |
single nucleotide variant |
Carney complex, type 1 [RCV001066088]|Hereditary cancer-predisposing syndrome [RCV001025716] |
Chr17:68525887 [GRCh38] Chr17:66522028 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.185C>T (p.Ala62Val) |
single nucleotide variant |
Carney complex, type 1 [RCV001048507]|Hereditary cancer-predisposing syndrome [RCV002409417] |
Chr17:68522763 [GRCh38] Chr17:66518904 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*299T>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001123992]|Carney complex, type 1 [RCV001122928] |
Chr17:68530748 [GRCh38] Chr17:66526889 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.791G>A (p.Arg264His) |
single nucleotide variant |
Carney complex, type 1 [RCV002551986]|Hereditary cancer-predisposing syndrome [RCV001026953]|not specified [RCV001194345] |
Chr17:68528891 [GRCh38] Chr17:66525032 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.801A>G (p.Val267=) |
single nucleotide variant |
Carney complex, type 1 [RCV001445644]|Hereditary cancer-predisposing syndrome [RCV001027069] |
Chr17:68528901 [GRCh38] Chr17:66525042 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.*1003C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001126760]|Carney complex, type 1 [RCV001126759] |
Chr17:68531452 [GRCh38] Chr17:66527593 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.107T>G (p.Val36Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009840] |
Chr17:68515506 [GRCh38] Chr17:66511647 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.206A>G (p.Gln69Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV001221574]|Hereditary cancer-predisposing syndrome [RCV001014308] |
Chr17:68522784 [GRCh38] Chr17:66518925 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*2212C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001127374]|Carney complex, type 1 [RCV001126965] |
Chr17:68532661 [GRCh38] Chr17:66528802 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.51A>T (p.Glu17Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV001065796]|Hereditary cancer-predisposing syndrome [RCV001023706]|not specified [RCV001532888] |
Chr17:68515450 [GRCh38] Chr17:66511591 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.754A>G (p.Lys252Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV001064627] |
Chr17:68527885 [GRCh38] Chr17:66524026 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1219+3_1219+6del |
microsatellite |
Amelogenesis imperfecta type 1G [RCV001093647] |
Chr17:68540843..68540846 [GRCh38] Chr17:66536984..66536987 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_212472.2(PRKAR1A):c.-200T>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001123808]|Carney complex, type 1 [RCV001123809] |
Chr17:68512386 [GRCh38] Chr17:66508527 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*2940G>A |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001127377]|Carney complex, type 1 [RCV001127378] |
Chr17:68533389 [GRCh38] Chr17:66529530 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.21C>A (p.Ala7=) |
single nucleotide variant |
Carney complex, type 1 [RCV001504929]|Hereditary cancer-predisposing syndrome [RCV001014770] |
Chr17:68515420 [GRCh38] Chr17:66511561 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.236A>G (p.Glu79Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015311] |
Chr17:68522814 [GRCh38] Chr17:66518955 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.24C>T (p.Ala8=) |
single nucleotide variant |
Carney complex, type 1 [RCV002068919]|Hereditary cancer-predisposing syndrome [RCV001015726] |
Chr17:68515423 [GRCh38] Chr17:66511564 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.695G>A (p.Arg232Lys) |
single nucleotide variant |
not provided [RCV001092734] |
Chr17:68525899 [GRCh38] Chr17:66522040 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.250C>T (p.Pro84Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV002551782]|Hereditary cancer-predisposing syndrome [RCV001015769] |
Chr17:68522828 [GRCh38] Chr17:66518969 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*233C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001122926]|Carney complex, type 1 [RCV001122927] |
Chr17:68530682 [GRCh38] Chr17:66526823 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.276A>G (p.Lys92=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016541] |
Chr17:68522854 [GRCh38] Chr17:66518995 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.770-8T>G |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001128619]|Carney complex, type 1 [RCV001128620]|Hereditary cancer-predisposing syndrome [RCV002256686] |
Chr17:68528862 [GRCh38] Chr17:66525003 [GRCh37] Chr17:17q24.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001267727.2(ARSG):c.1353del (p.Lys451fs) |
deletion |
not provided [RCV001228498] |
Chr17:68420238 [GRCh38] Chr17:66416379 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.836G>A (p.Gly279Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017641] |
Chr17:68528936 [GRCh38] Chr17:66525077 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.83A>C (p.Gln28Pro) |
single nucleotide variant |
Carney complex, type 1 [RCV002304225]|Hereditary cancer-predisposing syndrome [RCV001017705] |
Chr17:68515482 [GRCh38] Chr17:66511623 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.*384C>T |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001123996]|Carney complex, type 1 [RCV001123995] |
Chr17:68530833 [GRCh38] Chr17:66526974 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.13A>G (p.Ser5Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011392] |
Chr17:68515412 [GRCh38] Chr17:66511553 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.431_440del (p.Asn144fs) |
deletion |
Carney complex, type 1 [RCV001038140] |
Chr17:68523807..68523816 [GRCh38] Chr17:66519948..66519957 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.572C>T (p.Ala191Val) |
single nucleotide variant |
Carney complex, type 1 [RCV001042723] |
Chr17:68525776 [GRCh38] Chr17:66521917 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-15C>A |
single nucleotide variant |
Carney complex, type 1 [RCV001053408] |
Chr17:68512540 [GRCh38] Chr17:66508681 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.658A>C (p.Asn220His) |
single nucleotide variant |
Carney complex, type 1 [RCV001039304] |
Chr17:68525862 [GRCh38] Chr17:66522003 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.179del (p.Glu60fs) |
deletion |
Carney complex, type 1 [RCV001253023] |
Chr17:68522757 [GRCh38] Chr17:66518898 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.756A>C (p.Lys252Asn) |
single nucleotide variant |
Carney complex, type 1 [RCV001327467]|Hereditary cancer-predisposing syndrome [RCV002393666]|not provided [RCV003227017]|not specified [RCV001251281] |
Chr17:68527887 [GRCh38] Chr17:66524028 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550-18A>T |
single nucleotide variant |
Carney complex, type 1 [RCV002184880] |
Chr17:68525736 [GRCh38] Chr17:66521877 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs) |
insertion |
Arrhythmogenic right ventricular dysplasia 10 [RCV001537873] |
Chr17:68525769..68525770 [GRCh38] Chr17:66521910..66521911 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_001267727.2(ARSG):c.1412G>A (p.Gly471Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002541860]|not provided [RCV001298427] |
Chr17:68420297 [GRCh38] Chr17:66416438 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.65T>G (p.Val22Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV001304701] |
Chr17:68515464 [GRCh38] Chr17:66511605 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.892-6_892-2del |
deletion |
Carney complex, type 1 [RCV001313922] |
Chr17:68529912..68529916 [GRCh38] Chr17:66526053..66526057 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1326del (p.Ser443fs) |
deletion |
Usher syndrome, type 4 [RCV001281078]|not provided [RCV001871630] |
Chr17:68420209 [GRCh38] Chr17:66416350 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_002734.5(PRKAR1A):c.590G>A (p.Gly197Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV001327921] |
Chr17:68525794 [GRCh38] Chr17:66521935 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.139A>T (p.Met47Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV001305431] |
Chr17:68515538 [GRCh38] Chr17:66511679 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) |
deletion |
Amelogenesis imperfecta type 1G [RCV001535979]|not provided [RCV002546414] |
Chr17:68542704..68542707 [GRCh38] Chr17:66538845..66538848 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.640A>G (p.Thr214Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV001340440] |
Chr17:68525844 [GRCh38] Chr17:66521985 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1385C>T (p.Thr462Ile) |
single nucleotide variant |
not provided [RCV001341158] |
Chr17:68420270 [GRCh38] Chr17:66416411 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.465G>C (p.Ser155=) |
single nucleotide variant |
Carney complex, type 1 [RCV001392356]|Hereditary cancer-predisposing syndrome [RCV002329411] |
Chr17:68524040 [GRCh38] Chr17:66520181 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_017565.4(FAM20A):c.1569C>T (p.Val523=) |
single nucleotide variant |
not provided [RCV001392384] |
Chr17:68537534 [GRCh38] Chr17:66533675 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-12C>T |
single nucleotide variant |
Carney complex, type 1 [RCV001350639] |
Chr17:68512543 [GRCh38] Chr17:66508684 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1107C>T (p.Asn369=) |
single nucleotide variant |
Carney complex, type 1 [RCV001433156]|Hereditary cancer-predisposing syndrome [RCV003160736] |
Chr17:68530410 [GRCh38] Chr17:66526551 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.112T>C (p.Leu38=) |
single nucleotide variant |
Carney complex, type 1 [RCV001414566]|Hereditary cancer-predisposing syndrome [RCV003160661] |
Chr17:68515511 [GRCh38] Chr17:66511652 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.762T>G (p.Ser254=) |
single nucleotide variant |
Carney complex, type 1 [RCV001392156] |
Chr17:68527893 [GRCh38] Chr17:66524034 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.221_230del (p.Arg74fs) |
deletion |
Carney complex, type 1 [RCV001281678] |
Chr17:68522795..68522804 [GRCh38] Chr17:66518936..66518945 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.886T>A (p.Leu296Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV001359954] |
Chr17:68528986 [GRCh38] Chr17:66525127 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.239A>G (p.Asp80Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV001303569]|Hereditary cancer-predisposing syndrome [RCV003294226] |
Chr17:68522817 [GRCh38] Chr17:66518958 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.804T>C (p.His268=) |
single nucleotide variant |
not provided [RCV001433697] |
Chr17:68543637 [GRCh38] Chr17:66539778 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.154G>A (p.Glu52Lys) |
single nucleotide variant |
Carney complex, type 1 [RCV001361973]|Hereditary cancer-predisposing syndrome [RCV002404854] |
Chr17:68515553 [GRCh38] Chr17:66511694 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1562G>A (p.Arg521His) |
single nucleotide variant |
not provided [RCV001306187] |
Chr17:68420447 [GRCh38] Chr17:66416588 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1057C>A (p.Pro353Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV001343407]|Hereditary cancer-predisposing syndrome [RCV002412078] |
Chr17:68530360 [GRCh38] Chr17:66526501 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002486410]|not provided [RCV001346403] |
Chr17:68542000 [GRCh38] Chr17:66538141 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.435G>C (p.Glu145Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV001373756] |
Chr17:68523811 [GRCh38] Chr17:66519952 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1381G>A (p.Asp461Asn) |
single nucleotide variant |
not provided [RCV001360475] |
Chr17:68420266 [GRCh38] Chr17:66416407 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.856_873del (p.Gly286_Glu291del) |
deletion |
Carney complex, type 1 [RCV001316505]|not provided [RCV003314002] |
Chr17:68528954..68528971 [GRCh38] Chr17:66525095..66525112 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.33G>C (p.Glu11Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV001297977]|Hereditary cancer-predisposing syndrome [RCV003294212] |
Chr17:68515432 [GRCh38] Chr17:66511573 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.861A>C (p.Glu287Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV001360968] |
Chr17:68528961 [GRCh38] Chr17:66525102 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.850G>T (p.Val284Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV001347052]|Hereditary cancer-predisposing syndrome [RCV002447420] |
Chr17:68528950 [GRCh38] Chr17:66525091 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.629C>T (p.Pro210Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV001296473] |
Chr17:68525833 [GRCh38] Chr17:66521974 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.790C>T (p.Arg264Cys) |
single nucleotide variant |
Carney complex, type 1 [RCV001319345]|Hereditary cancer-predisposing syndrome [RCV002256741]|not provided [RCV003156337]|not specified [RCV003479312] |
Chr17:68528890 [GRCh38] Chr17:66525031 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.47G>A (p.Arg16Gln) |
single nucleotide variant |
Carney complex, type 1 [RCV001341395]|Hereditary cancer-predisposing syndrome [RCV003169624]|not specified [RCV002469376] |
Chr17:68515446 [GRCh38] Chr17:66511587 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1070G>A (p.Arg357His) |
single nucleotide variant |
Carney complex, type 1 [RCV001345335] |
Chr17:68530373 [GRCh38] Chr17:66526514 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.249TCC[2] (p.Pro87del) |
microsatellite |
Carney complex, type 1 [RCV001339280] |
Chr17:68522826..68522828 [GRCh38] Chr17:66518967..66518969 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550-8C>G |
single nucleotide variant |
Carney complex, type 1 [RCV001316264] |
Chr17:68525746 [GRCh38] Chr17:66521887 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550-6_550-5insCT |
insertion |
Carney complex, type 1 [RCV001322641] |
Chr17:68525748..68525749 [GRCh38] Chr17:66521889..66521890 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003462929]|Carney complex, type 1 [RCV001366162]|Hereditary cancer-predisposing syndrome [RCV002377536] |
Chr17:68525862 [GRCh38] Chr17:66522003 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1465G>A (p.Val489Ile) |
single nucleotide variant |
not provided [RCV001369763] |
Chr17:68420350 [GRCh38] Chr17:66416491 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.348+10A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001304922] |
Chr17:68522936 [GRCh38] Chr17:66519077 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.1142_1145del (p.Val381fs) |
microsatellite |
Carney complex, type 1 [RCV001370028] |
Chr17:68530438..68530441 [GRCh38] Chr17:66526579..66526582 [GRCh37] Chr17:17q24.2 |
likely pathogenic|uncertain significance |
NM_002734.5(PRKAR1A):c.-7+3G>A |
single nucleotide variant |
Carney complex, type 1 [RCV001421516] |
Chr17:68512551 [GRCh38] Chr17:66508692 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.192G>A (p.Gln64=) |
single nucleotide variant |
Carney complex, type 1 [RCV001412535]|Hereditary cancer-predisposing syndrome [RCV002413983] |
Chr17:68522770 [GRCh38] Chr17:66518911 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1174C>T (p.Arg392Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003246954]|not provided [RCV001367277] |
Chr17:68540894 [GRCh38] Chr17:66537035 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.23C>T (p.Ala8Val) |
single nucleotide variant |
Carney complex, type 1 [RCV001371600] |
Chr17:68515422 [GRCh38] Chr17:66511563 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.43C>A (p.Leu15Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV001367352]|Hereditary cancer-predisposing syndrome [RCV003298596] |
Chr17:68515442 [GRCh38] Chr17:66511583 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.656C>T (p.Thr219Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV001360882] |
Chr17:68525860 [GRCh38] Chr17:66522001 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.580G>A (p.Val194Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV001307164]|Hereditary cancer-predisposing syndrome [RCV002357115] |
Chr17:68525784 [GRCh38] Chr17:66521925 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1557C>T (p.Ala519=) |
single nucleotide variant |
not provided [RCV001412957] |
Chr17:68420442 [GRCh38] Chr17:66416583 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.77A>C (p.Asn26Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV001370397] |
Chr17:68515476 [GRCh38] Chr17:66511617 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.441-10T>C |
single nucleotide variant |
Carney complex, type 1 [RCV001461534] |
Chr17:68524006 [GRCh38] Chr17:66520147 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.891+10T>G |
single nucleotide variant |
Carney complex, type 1 [RCV001435623] |
Chr17:68529001 [GRCh38] Chr17:66525142 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.78C>T (p.Asn26=) |
single nucleotide variant |
Carney complex, type 1 [RCV001490428] |
Chr17:68515477 [GRCh38] Chr17:66511618 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.769+10A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001425226] |
Chr17:68527910 [GRCh38] Chr17:66524051 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.252T>C (p.Pro84=) |
single nucleotide variant |
Carney complex, type 1 [RCV001503107]|Hereditary cancer-predisposing syndrome [RCV002424935] |
Chr17:68522830 [GRCh38] Chr17:66518971 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.468C>T (p.Val156=) |
single nucleotide variant |
Carney complex, type 1 [RCV001436174]|Hereditary cancer-predisposing syndrome [RCV002341952] |
Chr17:68524043 [GRCh38] Chr17:66520184 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1332G>C (p.Thr444=) |
single nucleotide variant |
not provided [RCV001488021] |
Chr17:68420217 [GRCh38] Chr17:66416358 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1053C>T (p.Asp351=) |
single nucleotide variant |
Carney complex, type 1 [RCV001503550] |
Chr17:68530356 [GRCh38] Chr17:66526497 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.330_338dup (p.Tyr113Ter) |
duplication |
Carney complex, type 1 [RCV001380901] |
Chr17:68522907..68522908 [GRCh38] Chr17:66519048..66519049 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1500C>T (p.Ser500=) |
single nucleotide variant |
not provided [RCV001483778] |
Chr17:68420385 [GRCh38] Chr17:66416526 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.42C>T (p.Ser14=) |
single nucleotide variant |
Carney complex, type 1 [RCV001477018]|Hereditary cancer-predisposing syndrome [RCV002329575]|not provided [RCV003426136] |
Chr17:68515441 [GRCh38] Chr17:66511582 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1140T>A (p.Ser380=) |
single nucleotide variant |
Carney complex, type 1 [RCV001431235]|Hereditary cancer-predisposing syndrome [RCV002456712] |
Chr17:68530443 [GRCh38] Chr17:66526584 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.783G>A (p.Lys261=) |
single nucleotide variant |
Carney complex, type 1 [RCV001456181]|Hereditary cancer-predisposing syndrome [RCV002414094] |
Chr17:68528883 [GRCh38] Chr17:66525024 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1380C>T (p.Asp460=) |
single nucleotide variant |
not provided [RCV001426719] |
Chr17:68420265 [GRCh38] Chr17:66416406 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1440C>T (p.Pro480=) |
single nucleotide variant |
not provided [RCV001493095] |
Chr17:68420325 [GRCh38] Chr17:66416466 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.111G>A (p.Gln37=) |
single nucleotide variant |
Carney complex, type 1 [RCV001460906]|Hereditary cancer-predisposing syndrome [RCV002439091] |
Chr17:68515510 [GRCh38] Chr17:66511651 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1219+15G>A |
single nucleotide variant |
not provided [RCV001442938] |
Chr17:68540834 [GRCh38] Chr17:66536975 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.930A>G (p.Glu310=) |
single nucleotide variant |
Carney complex, type 1 [RCV001393762]|Hereditary cancer-predisposing syndrome [RCV002377585] |
Chr17:68529958 [GRCh38] Chr17:66526099 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1491C>T (p.Asn497=) |
single nucleotide variant |
not provided [RCV001438095] |
Chr17:68420376 [GRCh38] Chr17:66416517 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.973+7A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001403076] |
Chr17:68530008 [GRCh38] Chr17:66526149 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.879C>T (p.Phe293=) |
single nucleotide variant |
Carney complex, type 1 [RCV001406629]|Hereditary cancer-predisposing syndrome [RCV002377627] |
Chr17:68528979 [GRCh38] Chr17:66525120 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.981T>C (p.Ile327=) |
single nucleotide variant |
Carney complex, type 1 [RCV001446157]|Hereditary cancer-predisposing syndrome [RCV003160798]|not specified [RCV003120608] |
Chr17:68530284 [GRCh38] Chr17:66526425 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1371del (p.Thr459fs) |
deletion |
not provided [RCV001387245] |
Chr17:68537732 [GRCh38] Chr17:66533873 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.561C>T (p.Asn187=) |
single nucleotide variant |
Carney complex, type 1 [RCV001432457]|Hereditary cancer-predisposing syndrome [RCV002350852] |
Chr17:68525765 [GRCh38] Chr17:66521906 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.306T>G (p.Ala102=) |
single nucleotide variant |
Carney complex, type 1 [RCV001448895] |
Chr17:68522884 [GRCh38] Chr17:66519025 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.770-4T>G |
single nucleotide variant |
Carney complex, type 1 [RCV001438683] |
Chr17:68528866 [GRCh38] Chr17:66525007 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.590dup (p.Gly198fs) |
duplication |
Carney complex, type 1 [RCV001389562] |
Chr17:68525792..68525793 [GRCh38] Chr17:66521933..66521934 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.123T>G (p.Ala41=) |
single nucleotide variant |
Carney complex, type 1 [RCV001410197]|Hereditary cancer-predisposing syndrome [RCV002384600] |
Chr17:68515522 [GRCh38] Chr17:66511663 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.340del (p.Val114fs) |
deletion |
Carney complex, type 1 [RCV001387956] |
Chr17:68522918 [GRCh38] Chr17:66519059 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1482C>T (p.Ala494=) |
single nucleotide variant |
not provided [RCV001444631] |
Chr17:68420367 [GRCh38] Chr17:66416508 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.579T>C (p.Ser193=) |
single nucleotide variant |
Carney complex, type 1 [RCV001431035] |
Chr17:68525783 [GRCh38] Chr17:66521924 [GRCh37] Chr17:17q24.2 |
likely benign |
NC_000017.10:g.(?_66508520)_(66533875_?)del |
deletion |
Carney complex, type 1 [RCV001390224] |
Chr17:66508520..66533875 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.770-9G>A |
single nucleotide variant |
Carney complex, type 1 [RCV001447346] |
Chr17:68528861 [GRCh38] Chr17:66525002 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.498_499insGTAAGGG (p.Gln167fs) |
insertion |
Carney complex, type 1 [RCV001388811] |
Chr17:68524072..68524073 [GRCh38] Chr17:66520213..66520214 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1419G>A (p.Ala473=) |
single nucleotide variant |
not provided [RCV001408382] |
Chr17:68420304 [GRCh38] Chr17:66416445 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.550-7A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001493986] |
Chr17:68525747 [GRCh38] Chr17:66521888 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1317G>A (p.Ala439=) |
single nucleotide variant |
not provided [RCV001429636] |
Chr17:68420202 [GRCh38] Chr17:66416343 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.973+9G>C |
single nucleotide variant |
Carney complex, type 1 [RCV001408658] |
Chr17:68530010 [GRCh38] Chr17:66526151 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1068A>G (p.Glu356=) |
single nucleotide variant |
Carney complex, type 1 [RCV001439172]|Hereditary cancer-predisposing syndrome [RCV002414045] |
Chr17:68530371 [GRCh38] Chr17:66526512 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.357A>G (p.Pro119=) |
single nucleotide variant |
Carney complex, type 1 [RCV001439196] |
Chr17:68523733 [GRCh38] Chr17:66519874 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1506T>C (p.Asp502=) |
single nucleotide variant |
not provided [RCV001432317] |
Chr17:68420391 [GRCh38] Chr17:66416532 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.75T>C (p.His25=) |
single nucleotide variant |
Carney complex, type 1 [RCV001411881] |
Chr17:68515474 [GRCh38] Chr17:66511615 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.300C>T (p.Ile100=) |
single nucleotide variant |
Carney complex, type 1 [RCV001468553]|Hereditary cancer-predisposing syndrome [RCV002439113]|not provided [RCV003327518] |
Chr17:68522878 [GRCh38] Chr17:66519019 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.1075C>G (p.Leu359Val) |
single nucleotide variant |
Carney complex, type 1 [RCV002573365]|not provided [RCV001597519] |
Chr17:68530378 [GRCh38] Chr17:66526519 [GRCh37] Chr17:17q24.2 |
likely pathogenic|uncertain significance |
NM_002734.5(PRKAR1A):c.60C>T (p.Leu20=) |
single nucleotide variant |
Carney complex, type 1 [RCV001454577]|Hereditary cancer-predisposing syndrome [RCV002359013] |
Chr17:68515459 [GRCh38] Chr17:66511600 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1512_1531del (p.Gln505fs) |
deletion |
not provided [RCV001682658] |
Chr17:68420396..68420415 [GRCh38] Chr17:66416537..66416556 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.974-8T>C |
single nucleotide variant |
Carney complex, type 1 [RCV001495577] |
Chr17:68530269 [GRCh38] Chr17:66526410 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.504T>C (p.Gly168=) |
single nucleotide variant |
Carney complex, type 1 [RCV001454706]|Hereditary cancer-predisposing syndrome [RCV002342011] |
Chr17:68524913 [GRCh38] Chr17:66521054 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1293C>T (p.Asn431=) |
single nucleotide variant |
not provided [RCV001486641] |
Chr17:68539893 [GRCh38] Chr17:66536034 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1110-52G>A |
single nucleotide variant |
not provided [RCV001611248] |
Chr17:68541010 [GRCh38] Chr17:66537151 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.642T>A (p.Thr214=) |
single nucleotide variant |
Carney complex, type 1 [RCV001469918]|Hereditary cancer-predisposing syndrome [RCV002368442] |
Chr17:68525846 [GRCh38] Chr17:66521987 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.15T>C (p.Ser5=) |
single nucleotide variant |
Carney complex, type 1 [RCV001459861] |
Chr17:68515414 [GRCh38] Chr17:66511555 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1110-205C>T |
single nucleotide variant |
not provided [RCV001713740] |
Chr17:68541163 [GRCh38] Chr17:66537304 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.819A>G (p.Pro273=) |
single nucleotide variant |
Carney complex, type 1 [RCV001497701]|Hereditary cancer-predisposing syndrome [RCV003161002] |
Chr17:68528919 [GRCh38] Chr17:66525060 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.717A>C (p.Thr239=) |
single nucleotide variant |
Carney complex, type 1 [RCV001500914]|Hereditary cancer-predisposing syndrome [RCV002377876] |
Chr17:68527848 [GRCh38] Chr17:66523989 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1110-196C>T |
single nucleotide variant |
not provided [RCV001647964] |
Chr17:68541154 [GRCh38] Chr17:66537295 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.834T>C (p.Asp278=) |
single nucleotide variant |
Carney complex, type 1 [RCV001478266] |
Chr17:68528934 [GRCh38] Chr17:66525075 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.897A>C (p.Ser299=) |
single nucleotide variant |
Carney complex, type 1 [RCV001498580] |
Chr17:68529925 [GRCh38] Chr17:66526066 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.621T>C (p.Tyr207=) |
single nucleotide variant |
Carney complex, type 1 [RCV001501521] |
Chr17:68525825 [GRCh38] Chr17:66521966 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.387C>T (p.Ala129=) |
single nucleotide variant |
Carney complex, type 1 [RCV001495495]|Hereditary cancer-predisposing syndrome [RCV002368512] |
Chr17:68523763 [GRCh38] Chr17:66519904 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1304-8CT[2] |
microsatellite |
not provided [RCV001487286] |
Chr17:68420181..68420182 [GRCh38] Chr17:66416322..66416323 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.726G>A (p.Lys242=) |
single nucleotide variant |
Carney complex, type 1 [RCV001458354] |
Chr17:68527857 [GRCh38] Chr17:66523998 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.903T>C (p.Ala301=) |
single nucleotide variant |
Carney complex, type 1 [RCV001457672] |
Chr17:68529931 [GRCh38] Chr17:66526072 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.349-9dup |
duplication |
Carney complex, type 1 [RCV001474255] |
Chr17:68523715..68523716 [GRCh38] Chr17:66519856..66519857 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.202C>T (p.Leu68=) |
single nucleotide variant |
Carney complex, type 1 [RCV001478543] |
Chr17:68522780 [GRCh38] Chr17:66518921 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.503-9C>G |
single nucleotide variant |
Carney complex, type 1 [RCV001454171] |
Chr17:68524903 [GRCh38] Chr17:66521044 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.318G>T (p.Thr106=) |
single nucleotide variant |
Carney complex, type 1 [RCV001458783] |
Chr17:68522896 [GRCh38] Chr17:66519037 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.215_216del (p.Gly72fs) |
deletion |
Carney complex, type 1 [RCV001388710] |
Chr17:68522793..68522794 [GRCh38] Chr17:66518934..66518935 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.873G>A (p.Glu291=) |
single nucleotide variant |
Carney complex, type 1 [RCV001478353] |
Chr17:68528973 [GRCh38] Chr17:66525114 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.864C>T (p.Val288=) |
single nucleotide variant |
not provided [RCV001452216] |
Chr17:68542758 [GRCh38] Chr17:66538899 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.735G>A (p.Glu245=) |
single nucleotide variant |
not provided [RCV001514726] |
Chr17:68543706 [GRCh38] Chr17:66539847 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.513G>A (p.Gly171=) |
single nucleotide variant |
Carney complex, type 1 [RCV001436683]|Hereditary cancer-predisposing syndrome [RCV002341954] |
Chr17:68524922 [GRCh38] Chr17:66521063 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.21C>T (p.Ala7=) |
single nucleotide variant |
Carney complex, type 1 [RCV001437140]|Hereditary cancer-predisposing syndrome [RCV002432215] |
Chr17:68515420 [GRCh38] Chr17:66511561 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.960T>G (p.Pro320=) |
single nucleotide variant |
Carney complex, type 1 [RCV001404808]|Hereditary cancer-predisposing syndrome [RCV002377619] |
Chr17:68529988 [GRCh38] Chr17:66526129 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1116G>A (p.Gln372=) |
single nucleotide variant |
Carney complex, type 1 [RCV001426230]|Hereditary cancer-predisposing syndrome [RCV003298724] |
Chr17:68530419 [GRCh38] Chr17:66526560 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.178-7C>A |
single nucleotide variant |
Carney complex, type 1 [RCV001479594] |
Chr17:68522749 [GRCh38] Chr17:66518890 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.84A>G (p.Gln28=) |
single nucleotide variant |
Carney complex, type 1 [RCV001435668] |
Chr17:68515483 [GRCh38] Chr17:66511624 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1331C>T (p.Thr444Met) |
single nucleotide variant |
not provided [RCV001520149] |
Chr17:68420216 [GRCh38] Chr17:66416357 [GRCh37] Chr17:17q24.2 |
benign |
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002254496] |
Chr17:68539955 [GRCh38] Chr17:66536096 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_017565.4(FAM20A):c.1294G>T (p.Ala432Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257280]|Inborn genetic diseases [RCV003269148] |
Chr17:68539892 [GRCh38] Chr17:66536033 [GRCh37] Chr17:17q24.2 |
benign|uncertain significance |
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002255775] |
Chr17:68543683 [GRCh38] Chr17:66539824 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_001276290.1(PRKAR1A):c.973+4267_974-9286del |
deletion |
Amelogenesis imperfecta type 1G [RCV002255776] |
Chr17:68534265..68541795 [GRCh38] Chr17:66530406..66537936 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.-6-4G>T |
single nucleotide variant |
Carney complex, type 1 [RCV003094251]|Hereditary cancer-predisposing syndrome [RCV002258613] |
Chr17:68515390 [GRCh38] Chr17:66511531 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550-14C>T |
single nucleotide variant |
Carney complex, type 1 [RCV003109107] |
Chr17:68525740 [GRCh38] Chr17:66521881 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1219+2T>C |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV001781077] |
Chr17:68540847 [GRCh38] Chr17:66536988 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_017565.4(FAM20A):c.719+751A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257279] |
Chr17:68551122 [GRCh38] Chr17:66547263 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.196C>G (p.Gln66Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257323] |
Chr17:68522774 [GRCh38] Chr17:66518915 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.998G>A (p.Arg333His) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV001789593]|Carney complex, type 1 [RCV001789592] |
Chr17:68530301 [GRCh38] Chr17:66526442 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.62A>G (p.Tyr21Cys) |
single nucleotide variant |
not provided [RCV001763846] |
Chr17:68515461 [GRCh38] Chr17:66511602 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.502+3A>C |
single nucleotide variant |
not provided [RCV001756609] |
Chr17:68524080 [GRCh38] Chr17:66520221 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.718dup (p.Leu240fs) |
duplication |
Carney complex, type 1 [RCV001874471] |
Chr17:68527848..68527849 [GRCh38] Chr17:66523989..66523990 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.593G>A (p.Gly198Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV002025713] |
Chr17:68525797 [GRCh38] Chr17:66521938 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV001929103]|Carney complex, type 1 [RCV002479447] |
Chr17:68525754 [GRCh38] Chr17:66521895 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1418C>T (p.Ala473Val) |
single nucleotide variant |
not provided [RCV001871133] |
Chr17:68420303 [GRCh38] Chr17:66416444 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1001C>T (p.Pro334Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV001930042] |
Chr17:68530304 [GRCh38] Chr17:66526445 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66508520)_(66519077_?)dup |
duplication |
Carney complex, type 1 [RCV002020681] |
Chr17:66508520..66519077 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.955G>A (p.Gly319Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV002004287] |
Chr17:68529983 [GRCh38] Chr17:66526124 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1552del (p.Ile518fs) |
deletion |
not provided [RCV002017106] |
Chr17:68420435 [GRCh38] Chr17:66416576 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1340A>G (p.Glu447Gly) |
single nucleotide variant |
not provided [RCV002024128] |
Chr17:68420225 [GRCh38] Chr17:66416366 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.177+4A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001969470] |
Chr17:68515580 [GRCh38] Chr17:66511721 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.545dup (p.Asp183fs) |
duplication |
Carney complex, type 1 [RCV002007161] |
Chr17:68524953..68524954 [GRCh38] Chr17:66521094..66521095 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter) |
single nucleotide variant |
not provided [RCV001864435] |
Chr17:68543720 [GRCh38] Chr17:66539861 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.478G>T (p.Ala160Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV001966120]|Hereditary cancer-predisposing syndrome [RCV003375498] |
Chr17:68524053 [GRCh38] Chr17:66520194 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.763A>G (p.Ile255Val) |
single nucleotide variant |
Carney complex, type 1 [RCV001969051]|Hereditary cancer-predisposing syndrome [RCV002388958] |
Chr17:68527894 [GRCh38] Chr17:66524035 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.385G>A (p.Ala129Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV001893086]|Hereditary cancer-predisposing syndrome [RCV002359365] |
Chr17:68523761 [GRCh38] Chr17:66519902 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1501G>A (p.Ala501Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002549055]|not provided [RCV002031460] |
Chr17:68420386 [GRCh38] Chr17:66416527 [GRCh37] Chr17:17q24.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_017565.4(FAM20A):c.812+4G>C |
single nucleotide variant |
not provided [RCV001998460] |
Chr17:68543625 [GRCh38] Chr17:66539766 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.178-20A>T |
single nucleotide variant |
Carney complex, type 1 [RCV001947010] |
Chr17:68522736 [GRCh38] Chr17:66518877 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.748C>T (p.Leu250Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV001945892]|Hereditary cancer-predisposing syndrome [RCV002388867] |
Chr17:68527879 [GRCh38] Chr17:66524020 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.973+20C>G |
single nucleotide variant |
Carney complex, type 1 [RCV002042816] |
Chr17:68530021 [GRCh38] Chr17:66526162 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.974-15C>T |
single nucleotide variant |
Carney complex, type 1 [RCV001965780] |
Chr17:68530262 [GRCh38] Chr17:66526403 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.440+15_440+16delinsGC |
indel |
Carney complex, type 1 [RCV001965858] |
Chr17:68523831..68523832 [GRCh38] Chr17:66519972..66519973 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.481G>A (p.Gly161Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV001894575]|Hereditary cancer-predisposing syndrome [RCV003303250] |
Chr17:68524056 [GRCh38] Chr17:66520197 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.116G>T (p.Cys39Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV001894207]|Hereditary cancer-predisposing syndrome [RCV003375378] |
Chr17:68515515 [GRCh38] Chr17:66511656 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His) |
single nucleotide variant |
Carney complex, type 1 [RCV001926722]|Carney complex, type 1 [RCV002491940] |
Chr17:68525895 [GRCh38] Chr17:66522036 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1054C>G (p.Arg352Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV001895460] |
Chr17:68530357 [GRCh38] Chr17:66526498 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_212471.3(PRKAR1A):c.-7+91G>T |
single nucleotide variant |
not provided [RCV001824512] |
Chr17:68512233 [GRCh38] Chr17:66508374 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.118A>G (p.Thr40Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV001892567]|Hereditary cancer-predisposing syndrome [RCV002334802] |
Chr17:68515517 [GRCh38] Chr17:66511658 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.97G>A (p.Asp33Asn) |
single nucleotide variant |
Carney complex, type 1 [RCV002024253]|Hereditary cancer-predisposing syndrome [RCV003303659] |
Chr17:68515496 [GRCh38] Chr17:66511637 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1438C>T (p.Pro480Ser) |
single nucleotide variant |
not provided [RCV002000379] |
Chr17:68420323 [GRCh38] Chr17:66416464 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1448G>T (p.Arg483Ile) |
single nucleotide variant |
not provided [RCV002023345] |
Chr17:68420333 [GRCh38] Chr17:66416474 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1560C>A (p.Cys520Ter) |
single nucleotide variant |
not provided [RCV002049044] |
Chr17:68420445 [GRCh38] Chr17:66416586 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.741G>C (p.Glu247Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV001962348]|Hereditary cancer-predisposing syndrome [RCV003382738] |
Chr17:68527872 [GRCh38] Chr17:66524013 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.760T>G (p.Ser254Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV001944054] |
Chr17:68527891 [GRCh38] Chr17:66524032 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.10_11delinsTT (p.Gly4Phe) |
indel |
Carney complex, type 1 [RCV002038024] |
Chr17:68515409..68515410 [GRCh38] Chr17:66511550..66511551 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.440+4G>C |
single nucleotide variant |
Carney complex, type 1 [RCV001867409] |
Chr17:68523820 [GRCh38] Chr17:66519961 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.584G>C (p.Gly195Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV001886614] |
Chr17:68525788 [GRCh38] Chr17:66521929 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.563A>G (p.Asn188Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV001975748]|Hereditary cancer-predisposing syndrome [RCV002344144] |
Chr17:68525767 [GRCh38] Chr17:66521908 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.98A>G (p.Asp33Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV001977235] |
Chr17:68515497 [GRCh38] Chr17:66511638 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-14G>T |
single nucleotide variant |
Carney complex, type 1 [RCV001992946] |
Chr17:68512541 [GRCh38] Chr17:66508682 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-15C>T |
single nucleotide variant |
Carney complex, type 1 [RCV001887431] |
Chr17:68512540 [GRCh38] Chr17:66508681 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.694A>G (p.Arg232Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV001887957]|Hereditary cancer-predisposing syndrome [RCV002370367] |
Chr17:68525898 [GRCh38] Chr17:66522039 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.908T>G (p.Leu303Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV002014929] |
Chr17:68529936 [GRCh38] Chr17:66526077 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.200A>G (p.Asn67Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV002014263]|Hereditary cancer-predisposing syndrome [RCV002423255] |
Chr17:68522778 [GRCh38] Chr17:66518919 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1307G>A (p.Gly436Glu) |
single nucleotide variant |
not provided [RCV001925964] |
Chr17:68420192 [GRCh38] Chr17:66416333 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.907C>G (p.Leu303Val) |
single nucleotide variant |
Carney complex, type 1 [RCV002050603] |
Chr17:68529935 [GRCh38] Chr17:66526076 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.76A>G (p.Asn26Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV001933690]|Hereditary cancer-predisposing syndrome [RCV002397929] |
Chr17:68515475 [GRCh38] Chr17:66511616 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.842A>G (p.Lys281Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV001876436] |
Chr17:68528942 [GRCh38] Chr17:66525083 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1330A>G (p.Thr444Ala) |
single nucleotide variant |
not provided [RCV001934483] |
Chr17:68420215 [GRCh38] Chr17:66416356 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.304G>A (p.Ala102Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV002015728]|Hereditary cancer-predisposing syndrome [RCV003170523] |
Chr17:68522882 [GRCh38] Chr17:66519023 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1012G>A (p.Gly338Ser) |
single nucleotide variant |
not provided [RCV001907808] |
Chr17:68542082 [GRCh38] Chr17:66538223 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002492197]|not provided [RCV001970798] |
Chr17:68540899 [GRCh38] Chr17:66537040 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.905T>C (p.Val302Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV001881245] |
Chr17:68529933 [GRCh38] Chr17:66526074 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1121A>G (p.Asn374Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV001978824] |
Chr17:68530424 [GRCh38] Chr17:66526565 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.807G>A (p.Leu269=) |
single nucleotide variant |
not provided [RCV001883874] |
Chr17:68543634 [GRCh38] Chr17:66539775 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.992T>G (p.Met331Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV001866679] |
Chr17:68530295 [GRCh38] Chr17:66526436 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.549+20A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001955073]|Carney complex, type 1 [RCV002503662] |
Chr17:68524978 [GRCh38] Chr17:66521119 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.652A>G (p.Lys218Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV002026397]|Hereditary cancer-predisposing syndrome [RCV002361399] |
Chr17:68525856 [GRCh38] Chr17:66521997 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.244A>T (p.Ile82Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV001922170] |
Chr17:68522822 [GRCh38] Chr17:66518963 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1545del (p.Tyr516fs) |
deletion |
not provided [RCV001917423] |
Chr17:68420428 [GRCh38] Chr17:66416569 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.556G>A (p.Val186Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV002047717] |
Chr17:68525760 [GRCh38] Chr17:66521901 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1382_1387del (p.Asp461_Thr462del) |
deletion |
not provided [RCV001973827] |
Chr17:68420265..68420270 [GRCh38] Chr17:66416406..66416411 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.929C>T (p.Ala310Val) |
single nucleotide variant |
not provided [RCV001891089] |
Chr17:68542165 [GRCh38] Chr17:66538306 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1550A>C (p.Gln517Pro) |
single nucleotide variant |
not provided [RCV001918333] |
Chr17:68420435 [GRCh38] Chr17:66416576 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.110A>C (p.Gln37Pro) |
single nucleotide variant |
Carney complex, type 1 [RCV001883158] |
Chr17:68515509 [GRCh38] Chr17:66511650 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.502+1G>C |
single nucleotide variant |
Carney complex, type 1 [RCV001924995] |
Chr17:68524078 [GRCh38] Chr17:66520219 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1351A>G (p.Lys451Glu) |
single nucleotide variant |
not provided [RCV001893575] |
Chr17:68420236 [GRCh38] Chr17:66416377 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.502+1_502+2dup |
duplication |
Carney complex, type 1 [RCV002034262] |
Chr17:68524077..68524078 [GRCh38] Chr17:66520218..66520219 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002490072]|not provided [RCV001900308] |
Chr17:68543684 [GRCh38] Chr17:66539825 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.581T>A (p.Val194Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV001956815] |
Chr17:68525785 [GRCh38] Chr17:66521926 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.91C>T (p.Leu31Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV001938562] |
Chr17:68515490 [GRCh38] Chr17:66511631 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.298A>G (p.Ile100Val) |
single nucleotide variant |
Carney complex, type 1 [RCV001977127]|Hereditary cancer-predisposing syndrome [RCV003170274] |
Chr17:68522876 [GRCh38] Chr17:66519017 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.120T>A (p.Thr40=) |
single nucleotide variant |
Carney complex, type 1 [RCV002036323] |
Chr17:68515519 [GRCh38] Chr17:66511660 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.926A>G (p.Asn309Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV001866496] |
Chr17:68529954 [GRCh38] Chr17:66526095 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.479del (p.Ala160fs) |
deletion |
Carney complex, type 1 [RCV001880832] |
Chr17:68524054 [GRCh38] Chr17:66520195 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.550-16G>T |
single nucleotide variant |
Carney complex, type 1 [RCV001960584] |
Chr17:68525738 [GRCh38] Chr17:66521879 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.221_253del (p.Arg74_Pro84del) |
deletion |
Carney complex, type 1 [RCV001924171] |
Chr17:68522796..68522828 [GRCh38] Chr17:66518937..66518969 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.367A>G (p.Lys123Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV002026224] |
Chr17:68523743 [GRCh38] Chr17:66519884 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1516G>A (p.Asp506Asn) |
single nucleotide variant |
not provided [RCV001970786] |
Chr17:68420401 [GRCh38] Chr17:66416542 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.446T>C (p.Ile149Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV001977261] |
Chr17:68524021 [GRCh38] Chr17:66520162 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.611C>G (p.Ala204Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV001977343] |
Chr17:68525815 [GRCh38] Chr17:66521956 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1075C>T (p.Leu359Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV001935813] |
Chr17:68530378 [GRCh38] Chr17:66526519 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.38G>A (p.Arg13His) |
single nucleotide variant |
Carney complex, type 1 [RCV001884869] |
Chr17:68515437 [GRCh38] Chr17:66511578 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.482G>C (p.Gly161Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV002019856] |
Chr17:68524057 [GRCh38] Chr17:66520198 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1367dup (p.Asn457fs) |
duplication |
not provided [RCV001979033] |
Chr17:68420248..68420249 [GRCh38] Chr17:66416389..66416390 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.190_203del (p.Gln64fs) |
deletion |
Carney complex, type 1 [RCV002049514] |
Chr17:68522768..68522781 [GRCh38] Chr17:66518909..66518922 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1315G>A (p.Ala439Thr) |
single nucleotide variant |
not provided [RCV001976872] |
Chr17:68420200 [GRCh38] Chr17:66416341 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.892-15G>A |
single nucleotide variant |
Carney complex, type 1 [RCV001958687] |
Chr17:68529905 [GRCh38] Chr17:66526046 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.758T>C (p.Val253Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV001925877] |
Chr17:68527889 [GRCh38] Chr17:66524030 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.440+1G>A |
single nucleotide variant |
Carney complex, type 1 [RCV001923659] |
Chr17:68523817 [GRCh38] Chr17:66519958 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.97del (p.Asp33fs) |
deletion |
Carney complex, type 1 [RCV001900787] |
Chr17:68515496 [GRCh38] Chr17:66511637 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.926_930del (p.Asn309fs) |
deletion |
Carney complex, type 1 [RCV001994583] |
Chr17:68529952..68529956 [GRCh38] Chr17:66526093..66526097 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.1055G>A (p.Arg352Lys) |
single nucleotide variant |
not provided [RCV001979949] |
Chr17:68542039 [GRCh38] Chr17:66538180 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1415G>A (p.Gly472Asp) |
single nucleotide variant |
not provided [RCV001884796] |
Chr17:68420300 [GRCh38] Chr17:66416441 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.124C>G (p.Arg42Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV002029118] |
Chr17:68515523 [GRCh38] Chr17:66511664 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.782A>T (p.Lys261Met) |
single nucleotide variant |
Carney complex, type 1 [RCV001992782]|Hereditary cancer-predisposing syndrome [RCV002407154] |
Chr17:68528882 [GRCh38] Chr17:66525023 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.178-19A>G |
single nucleotide variant |
Carney complex, type 1 [RCV001953145] |
Chr17:68522737 [GRCh38] Chr17:66518878 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.868G>A (p.Asp290Asn) |
single nucleotide variant |
Carney complex, type 1 [RCV002026583] |
Chr17:68528968 [GRCh38] Chr17:66525109 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66303635)_(66596807_?)dup |
duplication |
not provided [RCV001918933] |
Chr17:66303635..66596807 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1070G>C (p.Arg357Pro) |
single nucleotide variant |
Carney complex, type 1 [RCV001934471] |
Chr17:68530373 [GRCh38] Chr17:66526514 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.542A>G (p.Glu181Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV001879731] |
Chr17:68524951 [GRCh38] Chr17:66521092 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.629del (p.Pro210fs) |
deletion |
Carney complex, type 1 [RCV001972455] |
Chr17:68525832 [GRCh38] Chr17:66521973 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.503-13dup |
duplication |
Carney complex, type 1 [RCV002206697]|Carney complex, type 1 [RCV002494108]|not provided [RCV003443006] |
Chr17:68524893..68524894 [GRCh38] Chr17:66521034..66521035 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_001267727.2(ARSG):c.1572C>T (p.Ala524=) |
single nucleotide variant |
not provided [RCV002197767] |
Chr17:68420457 [GRCh38] Chr17:66416598 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1512T>C (p.Thr504=) |
single nucleotide variant |
not provided [RCV002198136] |
Chr17:68420397 [GRCh38] Chr17:66416538 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.441-14TC[2] |
microsatellite |
Carney complex, type 1 [RCV002105018] |
Chr17:68524002..68524003 [GRCh38] Chr17:66520143..66520144 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1113G>A (p.Gln371=) |
single nucleotide variant |
Carney complex, type 1 [RCV002108329]|Hereditary cancer-predisposing syndrome [RCV002434539] |
Chr17:68530416 [GRCh38] Chr17:66526557 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.349-20G>C |
single nucleotide variant |
Carney complex, type 1 [RCV002170019] |
Chr17:68523705 [GRCh38] Chr17:66519846 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.349-12G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002168423] |
Chr17:68523713 [GRCh38] Chr17:66519854 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.973+14C>A |
single nucleotide variant |
Carney complex, type 1 [RCV002091384] |
Chr17:68530015 [GRCh38] Chr17:66526156 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1360C>T (p.Leu454=) |
single nucleotide variant |
not provided [RCV002173452] |
Chr17:68420245 [GRCh38] Chr17:66416386 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.440+14C>A |
single nucleotide variant |
Carney complex, type 1 [RCV002109698] |
Chr17:68523830 [GRCh38] Chr17:66519971 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.349-19dup |
duplication |
Carney complex, type 1 [RCV002091748] |
Chr17:68523705..68523706 [GRCh38] Chr17:66519846..66519847 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.440+10G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002106512] |
Chr17:68523826 [GRCh38] Chr17:66519967 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.549+14A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002149230] |
Chr17:68524972 [GRCh38] Chr17:66521113 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.503-7C>G |
single nucleotide variant |
Carney complex, type 1 [RCV002104795] |
Chr17:68524905 [GRCh38] Chr17:66521046 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.349-17C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002110069] |
Chr17:68523708 [GRCh38] Chr17:66519849 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.231A>C (p.Ser77=) |
single nucleotide variant |
Carney complex, type 1 [RCV002087400] |
Chr17:68522809 [GRCh38] Chr17:66518950 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.549+18C>A |
single nucleotide variant |
Carney complex, type 1 [RCV002187700] |
Chr17:68524976 [GRCh38] Chr17:66521117 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.719+774G>C |
single nucleotide variant |
not provided [RCV002224382] |
Chr17:68551099 [GRCh38] Chr17:66547240 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002500003]|not provided [RCV002117742] |
Chr17:68537631 [GRCh38] Chr17:66533772 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.417A>C (p.Ser139=) |
single nucleotide variant |
Carney complex, type 1 [RCV002084762] |
Chr17:68523793 [GRCh38] Chr17:66519934 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.178-18A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002124567] |
Chr17:68522738 [GRCh38] Chr17:66518879 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.441-11C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002107805] |
Chr17:68524005 [GRCh38] Chr17:66520146 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.852G>T (p.Val284=) |
single nucleotide variant |
Carney complex, type 1 [RCV002205507] |
Chr17:68528952 [GRCh38] Chr17:66525093 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1464C>T (p.Asp488=) |
single nucleotide variant |
not provided [RCV002164014] |
Chr17:68420349 [GRCh38] Chr17:66416490 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1131G>A (p.Val377=) |
single nucleotide variant |
Carney complex, type 1 [RCV002167359]|Hereditary cancer-predisposing syndrome [RCV002324525] |
Chr17:68530434 [GRCh38] Chr17:66526575 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.804T>C (p.Ala268=) |
single nucleotide variant |
Carney complex, type 1 [RCV002166326] |
Chr17:68528904 [GRCh38] Chr17:66525045 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.702C>T (p.Ile234=) |
single nucleotide variant |
Carney complex, type 1 [RCV002147820] |
Chr17:68525906 [GRCh38] Chr17:66522047 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1158G>A (p.Pro386=) |
single nucleotide variant |
not provided [RCV002173015] |
Chr17:68540910 [GRCh38] Chr17:66537051 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.891+17T>A |
single nucleotide variant |
Carney complex, type 1 [RCV002109727] |
Chr17:68529008 [GRCh38] Chr17:66525149 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.349-14C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002108384] |
Chr17:68523711 [GRCh38] Chr17:66519852 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.549+12C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002148315] |
Chr17:68524970 [GRCh38] Chr17:66521111 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+18A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002185400] |
Chr17:68524095 [GRCh38] Chr17:66520236 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1386C>T (p.Thr462=) |
single nucleotide variant |
not provided [RCV002101993] |
Chr17:68420271 [GRCh38] Chr17:66416412 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.396T>C (p.Ile132=) |
single nucleotide variant |
Carney complex, type 1 [RCV002152415] |
Chr17:68523772 [GRCh38] Chr17:66519913 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.603A>G (p.Gly201=) |
single nucleotide variant |
Carney complex, type 1 [RCV002170719] |
Chr17:68525807 [GRCh38] Chr17:66521948 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.974-17A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002114568] |
Chr17:68530260 [GRCh38] Chr17:66526401 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.984T>C (p.Ala328=) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002494066]|not provided [RCV002175109] |
Chr17:68542110 [GRCh38] Chr17:66538251 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.550-17T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002075171] |
Chr17:68525737 [GRCh38] Chr17:66521878 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1023T>C (p.Ala341=) |
single nucleotide variant |
Carney complex, type 1 [RCV002115470]|Hereditary cancer-predisposing syndrome [RCV002372932] |
Chr17:68530326 [GRCh38] Chr17:66526467 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.708+7G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002171406] |
Chr17:68525919 [GRCh38] Chr17:66522060 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1301+7T>A |
single nucleotide variant |
not provided [RCV002206298] |
Chr17:68539878 [GRCh38] Chr17:66536019 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.764T>C (p.Ile255Thr) |
single nucleotide variant |
not provided [RCV002085526] |
Chr17:68543677 [GRCh38] Chr17:66539818 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+14G>T |
single nucleotide variant |
Carney complex, type 1 [RCV002097661] |
Chr17:68524091 [GRCh38] Chr17:66520232 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.928+16G>A |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV002499917]|not provided [RCV002102653] |
Chr17:68542678 [GRCh38] Chr17:66538819 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_002734.5(PRKAR1A):c.769+15del |
deletion |
Carney complex, type 1 [RCV002173114] |
Chr17:68527915 [GRCh38] Chr17:66524056 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+12_502+13del |
deletion |
Carney complex, type 1 [RCV002095990]|Carney complex, type 1 [RCV002486872] |
Chr17:68524089..68524090 [GRCh38] Chr17:66520230..66520231 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.178-16T>A |
single nucleotide variant |
Carney complex, type 1 [RCV002134240] |
Chr17:68522740 [GRCh38] Chr17:66518881 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.169T>C (p.Leu57=) |
single nucleotide variant |
Carney complex, type 1 [RCV002106564]|Hereditary cancer-predisposing syndrome [RCV002409560] |
Chr17:68515568 [GRCh38] Chr17:66511709 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.892-14T>G |
single nucleotide variant |
Carney complex, type 1 [RCV002089692] |
Chr17:68529906 [GRCh38] Chr17:66526047 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-7+6T>G |
single nucleotide variant |
Carney complex, type 1 [RCV002130650] |
Chr17:68512554 [GRCh38] Chr17:66508695 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.708+13G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002095639] |
Chr17:68525925 [GRCh38] Chr17:66522066 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.57G>A (p.Glu19=) |
single nucleotide variant |
Carney complex, type 1 [RCV002214783]|Hereditary cancer-predisposing syndrome [RCV002352809] |
Chr17:68515456 [GRCh38] Chr17:66511597 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.503-18T>A |
single nucleotide variant |
Carney complex, type 1 [RCV002095914] |
Chr17:68524894 [GRCh38] Chr17:66521035 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.770-14T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002174144] |
Chr17:68528856 [GRCh38] Chr17:66524997 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+14G>C |
single nucleotide variant |
Carney complex, type 1 [RCV002208461] |
Chr17:68524091 [GRCh38] Chr17:66520232 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.708+11A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002092986] |
Chr17:68525923 [GRCh38] Chr17:66522064 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.348+18A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002185319] |
Chr17:68522944 [GRCh38] Chr17:66519085 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.891+12A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002112998] |
Chr17:68529003 [GRCh38] Chr17:66525144 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.709-10T>A |
single nucleotide variant |
Carney complex, type 1 [RCV002087432] |
Chr17:68527830 [GRCh38] Chr17:66523971 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1166A>G (p.Asn389Ser) |
single nucleotide variant |
not provided [RCV002099794] |
Chr17:68540902 [GRCh38] Chr17:66537043 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-7+7G>C |
single nucleotide variant |
Carney complex, type 1 [RCV002113047] |
Chr17:68512555 [GRCh38] Chr17:66508696 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.336C>A (p.Ser112=) |
single nucleotide variant |
Carney complex, type 1 [RCV002093614]|Hereditary cancer-predisposing syndrome [RCV002454429] |
Chr17:68522914 [GRCh38] Chr17:66519055 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.348+17A>T |
single nucleotide variant |
Carney complex, type 1 [RCV002195898] |
Chr17:68522943 [GRCh38] Chr17:66519084 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.348+13T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002171637] |
Chr17:68522939 [GRCh38] Chr17:66519080 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.550-13A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002082853] |
Chr17:68525741 [GRCh38] Chr17:66521882 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.348+20_348+21del |
microsatellite |
Carney complex, type 1 [RCV002220131] |
Chr17:68522944..68522945 [GRCh38] Chr17:66519085..66519086 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.769+15G>T |
single nucleotide variant |
Carney complex, type 1 [RCV002175581] |
Chr17:68527915 [GRCh38] Chr17:66524056 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.974-19C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002198439] |
Chr17:68530258 [GRCh38] Chr17:66526399 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.440+7A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002083384] |
Chr17:68523823 [GRCh38] Chr17:66519964 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.441-8T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002183304] |
Chr17:68524008 [GRCh38] Chr17:66520149 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+20G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002143338] |
Chr17:68524097 [GRCh38] Chr17:66520238 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.709-9del |
deletion |
Carney complex, type 1 [RCV002118485] |
Chr17:68527827 [GRCh38] Chr17:66523968 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.709-18T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002178206] |
Chr17:68527822 [GRCh38] Chr17:66523963 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.503-16T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002164283] |
Chr17:68524896 [GRCh38] Chr17:66521037 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.709-12T>G |
single nucleotide variant |
Carney complex, type 1 [RCV002164601] |
Chr17:68527828 [GRCh38] Chr17:66523969 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.633A>G (p.Arg211=) |
single nucleotide variant |
Carney complex, type 1 [RCV002162598]|Hereditary cancer-predisposing syndrome [RCV002363622] |
Chr17:68525837 [GRCh38] Chr17:66521978 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.282G>A (p.Arg94=) |
single nucleotide variant |
Carney complex, type 1 [RCV002083173]|Hereditary cancer-predisposing syndrome [RCV002434465] |
Chr17:68522860 [GRCh38] Chr17:66519001 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.973+14C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002202854] |
Chr17:68530015 [GRCh38] Chr17:66526156 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.372A>C (p.Thr124=) |
single nucleotide variant |
Carney complex, type 1 [RCV002123102]|Hereditary cancer-predisposing syndrome [RCV002346487] |
Chr17:68523748 [GRCh38] Chr17:66519889 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.440+17_440+20del |
microsatellite |
Carney complex, type 1 [RCV002135979] |
Chr17:68523829..68523832 [GRCh38] Chr17:66519970..66519973 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.440+11G>C |
single nucleotide variant |
Carney complex, type 1 [RCV002102347] |
Chr17:68523827 [GRCh38] Chr17:66519968 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+19T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002082592] |
Chr17:68524096 [GRCh38] Chr17:66520237 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.709-8A>C |
single nucleotide variant |
Carney complex, type 1 [RCV002099950] |
Chr17:68527832 [GRCh38] Chr17:66523973 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.441-15T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002119492] |
Chr17:68524001 [GRCh38] Chr17:66520142 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.612T>C (p.Ala204=) |
single nucleotide variant |
Carney complex, type 1 [RCV002157980]|Hereditary cancer-predisposing syndrome [RCV002352873] |
Chr17:68525816 [GRCh38] Chr17:66521957 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.718C>T (p.Leu240=) |
single nucleotide variant |
Carney complex, type 1 [RCV002139840] |
Chr17:68527849 [GRCh38] Chr17:66523990 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.975T>C (p.Gly325=) |
single nucleotide variant |
Carney complex, type 1 [RCV002081667] |
Chr17:68530278 [GRCh38] Chr17:66526419 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.974-12T>G |
single nucleotide variant |
Carney complex, type 1 [RCV002141589] |
Chr17:68530265 [GRCh38] Chr17:66526406 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.178-4T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002217449] |
Chr17:68522752 [GRCh38] Chr17:66518893 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.178-14G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002120482] |
Chr17:68522742 [GRCh38] Chr17:66518883 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.450T>C (p.Phe150=) |
single nucleotide variant |
Carney complex, type 1 [RCV002184082]|Hereditary cancer-predisposing syndrome [RCV003308039] |
Chr17:68524025 [GRCh38] Chr17:66520166 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.177+12T>G |
single nucleotide variant |
Carney complex, type 1 [RCV002101183] |
Chr17:68515588 [GRCh38] Chr17:66511729 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.210A>G (p.Lys70=) |
single nucleotide variant |
Carney complex, type 1 [RCV002182825] |
Chr17:68522788 [GRCh38] Chr17:66518929 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.770-7C>T |
single nucleotide variant |
Carney complex, type 1 [RCV003110620] |
Chr17:68528863 [GRCh38] Chr17:66525004 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.467T>G (p.Val156Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV003116204] |
Chr17:68524042 [GRCh38] Chr17:66520183 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66508520)_(66508699_?)del |
deletion |
Carney complex, type 1 [RCV003122611] |
Chr17:66508520..66508699 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66518887)_(66519967_?)del |
deletion |
Carney complex, type 1 [RCV003122612] |
Chr17:66518887..66519967 [GRCh37] Chr17:17q24.2 |
pathogenic |
NC_000017.10:g.(?_66508520)_(66548013_?)del |
deletion |
Carney complex, type 1 [RCV003122613] |
Chr17:66508520..66548013 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC |
indel |
Amelogenesis imperfecta type 1G [RCV002254495] |
Chr17:68541978..68541982 [GRCh38] Chr17:66538119..66538123 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.719+776G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257281] |
Chr17:68551097 [GRCh38] Chr17:66547238 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.283A>G (p.Arg95Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV002296911] |
Chr17:68522861 [GRCh38] Chr17:66519002 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.79A>G (p.Ile27Val) |
single nucleotide variant |
Carney complex, type 1 [RCV003099809]|Hereditary cancer-predisposing syndrome [RCV002419132] |
Chr17:68515478 [GRCh38] Chr17:66511619 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.929-11_929-3del |
deletion |
not provided [RCV002280047] |
Chr17:68542168..68542176 [GRCh38] Chr17:66538309..66538317 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-2C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435619] |
Chr17:68515398 [GRCh38] Chr17:66511539 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.663G>T (p.Val221=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366799] |
Chr17:68525867 [GRCh38] Chr17:66522008 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.541G>A (p.Glu181Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349483] |
Chr17:68524950 [GRCh38] Chr17:66521091 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.974_981delinsCAAA (p.Gly325fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV002387082] |
Chr17:68530277..68530284 [GRCh38] Chr17:66526418..66526425 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.339T>C (p.Tyr113=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452008] |
Chr17:68522917 [GRCh38] Chr17:66519058 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.810A>T (p.Ala270=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419510] |
Chr17:68528910 [GRCh38] Chr17:66525051 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1447del (p.Glu483fs) |
deletion |
not provided [RCV002267276] |
Chr17:68537656 [GRCh38] Chr17:66533797 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.963T>C (p.Ser321=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385369] |
Chr17:68529991 [GRCh38] Chr17:66526132 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.807T>C (p.Asp269=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419400] |
Chr17:68528907 [GRCh38] Chr17:66525048 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1125T>C (p.Ser375=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436006] |
Chr17:68530428 [GRCh38] Chr17:66526569 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.95A>G (p.Lys32Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV003094837]|Hereditary cancer-predisposing syndrome [RCV002385278] |
Chr17:68515494 [GRCh38] Chr17:66511635 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.501A>C (p.Gln167His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351389] |
Chr17:68524076 [GRCh38] Chr17:66520217 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.973+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387062] |
Chr17:68530002 [GRCh38] Chr17:66526143 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.258A>G (p.Pro86=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452881] |
Chr17:68522836 [GRCh38] Chr17:66518977 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.378C>A (p.Ala126=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351196] |
Chr17:68523754 [GRCh38] Chr17:66519895 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.550-4T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351691] |
Chr17:68525750 [GRCh38] Chr17:66521891 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.201T>A (p.Asn67Lys) |
single nucleotide variant |
Carney complex, type 1 [RCV003101014]|Hereditary cancer-predisposing syndrome [RCV002419563] |
Chr17:68522779 [GRCh38] Chr17:66518920 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.337T>G (p.Tyr113Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451824] |
Chr17:68522915 [GRCh38] Chr17:66519056 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.798G>C (p.Thr266=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419078] |
Chr17:68528898 [GRCh38] Chr17:66525039 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.985C>T (p.Leu329=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387325] |
Chr17:68530288 [GRCh38] Chr17:66526429 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.675C>T (p.Gly225=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369254] |
Chr17:68525879 [GRCh38] Chr17:66522020 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.187A>G (p.Lys63Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415269] |
Chr17:68522765 [GRCh38] Chr17:66518906 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.433G>A (p.Glu145Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332187] |
Chr17:68523809 [GRCh38] Chr17:66519950 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.857G>A (p.Gly286Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414493] |
Chr17:68528957 [GRCh38] Chr17:66525098 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.12C>A (p.Gly4=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380773] |
Chr17:68515411 [GRCh38] Chr17:66511552 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.826T>C (p.Phe276Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430218] |
Chr17:68528926 [GRCh38] Chr17:66525067 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1102C>G (p.Arg368Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455751] |
Chr17:68530405 [GRCh38] Chr17:66526546 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.473T>G (p.Phe158Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335517] |
Chr17:68524048 [GRCh38] Chr17:66520189 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.479C>T (p.Ala160Val) |
single nucleotide variant |
Carney complex, type 1 [RCV002304195] |
Chr17:68524054 [GRCh38] Chr17:66520195 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.918G>T (p.Arg306=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378921] |
Chr17:68529946 [GRCh38] Chr17:66526087 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.85G>C (p.Ala29Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002447988] |
Chr17:68515484 [GRCh38] Chr17:66511625 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.771G>A (p.Glu257=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400676] |
Chr17:68528871 [GRCh38] Chr17:66525012 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.837G>A (p.Gly279=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434809] |
Chr17:68528937 [GRCh38] Chr17:66525078 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.105T>C (p.Ile35=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407695] |
Chr17:68515504 [GRCh38] Chr17:66511645 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.594G>T (p.Gly198=) |
single nucleotide variant |
Carney complex, type 1 [RCV003098077]|Hereditary cancer-predisposing syndrome [RCV002355982] |
Chr17:68525798 [GRCh38] Chr17:66521939 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.267A>T (p.Pro89=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428878] |
Chr17:68522845 [GRCh38] Chr17:66518986 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1045A>C (p.Lys349Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405337] |
Chr17:68530348 [GRCh38] Chr17:66526489 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.620A>T (p.Tyr207Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV003098166]|Hereditary cancer-predisposing syndrome [RCV002353864] |
Chr17:68525824 [GRCh38] Chr17:66521965 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.349-5T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459066] |
Chr17:68523720 [GRCh38] Chr17:66519861 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.581T>G (p.Val194Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV002300315] |
Chr17:68525785 [GRCh38] Chr17:66521926 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.684A>T (p.Arg228=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002362101] |
Chr17:68525888 [GRCh38] Chr17:66522029 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.990G>C (p.Leu330=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382798] |
Chr17:68530293 [GRCh38] Chr17:66526434 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.862C>T (p.Pro288Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV003099989]|Hereditary cancer-predisposing syndrome [RCV002371165] |
Chr17:68528962 [GRCh38] Chr17:66525103 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.864A>G (p.Pro288=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002371209] |
Chr17:68528964 [GRCh38] Chr17:66525105 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.227A>G (p.Asp76Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446048] |
Chr17:68522805 [GRCh38] Chr17:66518946 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.952T>C (p.Leu318=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374251] |
Chr17:68529980 [GRCh38] Chr17:66526121 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1128T>C (p.Phe376=) |
single nucleotide variant |
Carney complex, type 1 [RCV003099187]|Hereditary cancer-predisposing syndrome [RCV002325829] |
Chr17:68530431 [GRCh38] Chr17:66526572 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.108G>T (p.Val36=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446139] |
Chr17:68515507 [GRCh38] Chr17:66511648 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.858A>C (p.Gly286=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002447913] |
Chr17:68528958 [GRCh38] Chr17:66525099 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.44T>C (p.Leu15Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328694] |
Chr17:68515443 [GRCh38] Chr17:66511584 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.583G>C (p.Gly195Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353279] |
Chr17:68525787 [GRCh38] Chr17:66521928 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.198G>T (p.Gln66His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423817] |
Chr17:68522776 [GRCh38] Chr17:66518917 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1047G>A (p.Lys349=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398306] |
Chr17:68530350 [GRCh38] Chr17:66526491 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.763A>C (p.Ile255Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396338] |
Chr17:68527894 [GRCh38] Chr17:66524035 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.999T>C (p.Arg333=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383083] |
Chr17:68530302 [GRCh38] Chr17:66526443 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.246T>A (p.Ile82=) |
single nucleotide variant |
Carney complex, type 1 [RCV003101857]|Hereditary cancer-predisposing syndrome [RCV002455542]|not provided [RCV003418528] |
Chr17:68522824 [GRCh38] Chr17:66518965 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.717A>G (p.Thr239=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378421] |
Chr17:68527848 [GRCh38] Chr17:66523989 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.134G>A (p.Arg45Lys) |
single nucleotide variant |
Carney complex, type 1 [RCV003120992]|Hereditary cancer-predisposing syndrome [RCV002387917] |
Chr17:68515533 [GRCh38] Chr17:66511674 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.502+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335570] |
Chr17:68524081 [GRCh38] Chr17:66520222 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.207G>A (p.Gln69=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422285] |
Chr17:68522785 [GRCh38] Chr17:66518926 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357986] |
Chr17:68515395 [GRCh38] Chr17:66511536 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.408G>T (p.Val136=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323217] |
Chr17:68523784 [GRCh38] Chr17:66519925 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.96A>G (p.Lys32=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376629] |
Chr17:68515495 [GRCh38] Chr17:66511636 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.907C>T (p.Leu303=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378576] |
Chr17:68529935 [GRCh38] Chr17:66526076 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1011C>A (p.Ala337=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326331] |
Chr17:68530314 [GRCh38] Chr17:66526455 [GRCh37] Chr17:17q24.2 |
likely benign |
NC_000017.11:g.68523725del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002459110] |
Chr17:68523724 [GRCh38] Chr17:66519865 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.974-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376752] |
Chr17:68530274 [GRCh38] Chr17:66526415 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.492G>A (p.Val164=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002340754] |
Chr17:68524067 [GRCh38] Chr17:66520208 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1133C>A (p.Ser378Ter) |
single nucleotide variant |
not specified [RCV002302495] |
Chr17:68530436 [GRCh38] Chr17:66526577 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.39C>G (p.Arg13=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375625] |
Chr17:68515438 [GRCh38] Chr17:66511579 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.534T>C (p.Asp178=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346967] |
Chr17:68524943 [GRCh38] Chr17:66521084 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.821T>A (p.Val274Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427990] |
Chr17:68528921 [GRCh38] Chr17:66525062 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.341T>C (p.Val114Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456929] |
Chr17:68522919 [GRCh38] Chr17:66519060 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.304G>C (p.Ala102Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002444099] |
Chr17:68522882 [GRCh38] Chr17:66519023 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.913C>T (p.Arg305Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378761] |
Chr17:68529941 [GRCh38] Chr17:66526082 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.424G>C (p.Asp142His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329849] |
Chr17:68523800 [GRCh38] Chr17:66519941 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.230C>T (p.Ser77Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV002302870] |
Chr17:68522808 [GRCh38] Chr17:66518949 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.231A>G (p.Ser77=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457551] |
Chr17:68522809 [GRCh38] Chr17:66518950 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.229T>A (p.Ser77Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457542] |
Chr17:68522807 [GRCh38] Chr17:66518948 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.687C>T (p.Asp229=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002362221] |
Chr17:68525891 [GRCh38] Chr17:66522032 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.789A>G (p.Glu263=) |
single nucleotide variant |
Carney complex, type 1 [RCV003099775]|Hereditary cancer-predisposing syndrome [RCV002412350] |
Chr17:68528889 [GRCh38] Chr17:66525030 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.440+4G>A |
single nucleotide variant |
Carney complex, type 1 [RCV003094680]|Hereditary cancer-predisposing syndrome [RCV002333753] |
Chr17:68523820 [GRCh38] Chr17:66519961 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_002734.5(PRKAR1A):c.1092C>T (p.Asp364=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448139] |
Chr17:68530395 [GRCh38] Chr17:66526536 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.432T>C (p.Asn144=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332115] |
Chr17:68523808 [GRCh38] Chr17:66519949 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.110A>T (p.Gln37Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428890] |
Chr17:68515509 [GRCh38] Chr17:66511650 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.215_226del (p.Gly72_Thr75del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002432454] |
Chr17:68522790..68522801 [GRCh38] Chr17:66518931..66518942 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.737A>T (p.Tyr246Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380397] |
Chr17:68527868 [GRCh38] Chr17:66524009 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.142G>A (p.Ala48Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392031] |
Chr17:68515541 [GRCh38] Chr17:66511682 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.93C>G (p.Leu31=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373900] |
Chr17:68515492 [GRCh38] Chr17:66511633 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.524A>T (p.Tyr175Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002340936] |
Chr17:68524933 [GRCh38] Chr17:66521074 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.708+4dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002365134] |
Chr17:68525914..68525915 [GRCh38] Chr17:66522055..66522056 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.824A>G (p.Gln275Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430143] |
Chr17:68528924 [GRCh38] Chr17:66525065 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.411G>T (p.Leu137=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323498] |
Chr17:68523787 [GRCh38] Chr17:66519928 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.384A>G (p.Leu128=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364106] |
Chr17:68523760 [GRCh38] Chr17:66519901 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1064T>G (p.Phe355Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413022] |
Chr17:68530367 [GRCh38] Chr17:66526508 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.564T>C (p.Asn188=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002345194] |
Chr17:68525768 [GRCh38] Chr17:66521909 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.958C>A (p.Pro320Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374339] |
Chr17:68529986 [GRCh38] Chr17:66526127 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.682C>A (p.Arg228=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369639] |
Chr17:68525886 [GRCh38] Chr17:66522027 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.929A>C (p.Glu310Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV002302356] |
Chr17:68529957 [GRCh38] Chr17:66526098 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.995_1000delinsTGA (p.Asn332_Pro334delinsMetThr) |
indel |
Hereditary cancer-predisposing syndrome [RCV002382927] |
Chr17:68530298..68530303 [GRCh38] Chr17:66526439..66526444 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.225A>G (p.Thr75=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443677] |
Chr17:68522803 [GRCh38] Chr17:66518944 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.322G>A (p.Glu108Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324721] |
Chr17:68522900 [GRCh38] Chr17:66519041 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.138C>G (p.Pro46=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396629] |
Chr17:68515537 [GRCh38] Chr17:66511678 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1109+11C>G |
single nucleotide variant |
not provided [RCV002776262] |
Chr17:68541974 [GRCh38] Chr17:66538115 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.667T>C (p.Leu223=) |
single nucleotide variant |
Carney complex, type 1 [RCV002994637] |
Chr17:68525871 [GRCh38] Chr17:66522012 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.885C>A (p.Val295=) |
single nucleotide variant |
not provided [RCV002726403] |
Chr17:68542737 [GRCh38] Chr17:66538878 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1502G>A (p.Arg501Lys) |
single nucleotide variant |
not provided [RCV003014533] |
Chr17:68537601 [GRCh38] Chr17:66533742 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.349-20G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002858423] |
Chr17:68523705 [GRCh38] Chr17:66519846 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.786G>A (p.Trp262Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV002862618] |
Chr17:68528886 [GRCh38] Chr17:66525027 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.463T>C (p.Ser155Pro) |
single nucleotide variant |
Carney complex, type 1 [RCV002750387] |
Chr17:68524038 [GRCh38] Chr17:66520179 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.591A>T (p.Gly197=) |
single nucleotide variant |
Carney complex, type 1 [RCV003074914] |
Chr17:68525795 [GRCh38] Chr17:66521936 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.178-15C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002904632] |
Chr17:68522741 [GRCh38] Chr17:66518882 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1310C>T (p.Ala437Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003274022]|not provided [RCV002751358] |
Chr17:68420195 [GRCh38] Chr17:66416336 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.770-11T>C |
single nucleotide variant |
Carney complex, type 1 [RCV003014557] |
Chr17:68528859 [GRCh38] Chr17:66525000 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.909A>G (p.Leu303=) |
single nucleotide variant |
Carney complex, type 1 [RCV002751395] |
Chr17:68529937 [GRCh38] Chr17:66526078 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.212C>T (p.Ala71Val) |
single nucleotide variant |
Carney complex, type 1 [RCV002995557] |
Chr17:68522790 [GRCh38] Chr17:66518931 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.785C>A (p.Ala262Asp) |
single nucleotide variant |
not provided [RCV002839068] |
Chr17:68543656 [GRCh38] Chr17:66539797 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.502+9C>T |
single nucleotide variant |
Carney complex, type 1 [RCV003074825] |
Chr17:68524086 [GRCh38] Chr17:66520227 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017983.7(WIPI1):c.616G>A (p.Glu206Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002818866] |
Chr17:68435625 [GRCh38] Chr17:66431766 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550-5T>A |
single nucleotide variant |
Carney complex, type 1 [RCV002795129] |
Chr17:68525749 [GRCh38] Chr17:66521890 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.334T>C (p.Ser112Pro) |
single nucleotide variant |
Carney complex, type 1 [RCV002819200] |
Chr17:68522912 [GRCh38] Chr17:66519053 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550-19G>A |
single nucleotide variant |
Carney complex, type 1 [RCV003076668] |
Chr17:68525735 [GRCh38] Chr17:66521876 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017983.7(WIPI1):c.793A>G (p.Thr265Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002882864] |
Chr17:68433475 [GRCh38] Chr17:66429616 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1118A>C (p.Tyr373Ser) |
single nucleotide variant |
not provided [RCV002461716] |
Chr17:68530421 [GRCh38] Chr17:66526562 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.492G>T (p.Val164=) |
single nucleotide variant |
Carney complex, type 1 [RCV002618871] |
Chr17:68524067 [GRCh38] Chr17:66520208 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1573G>C (p.Ala525Pro) |
single nucleotide variant |
not provided [RCV002994180] |
Chr17:68420458 [GRCh38] Chr17:66416599 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1574C>T (p.Ala525Val) |
single nucleotide variant |
not provided [RCV002970921] |
Chr17:68420459 [GRCh38] Chr17:66416600 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1406A>G (p.Glu469Gly) |
single nucleotide variant |
not provided [RCV002816283] |
Chr17:68420291 [GRCh38] Chr17:66416432 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1071C>T (p.Asn357=) |
single nucleotide variant |
not provided [RCV002904729] |
Chr17:68542023 [GRCh38] Chr17:66538164 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017983.7(WIPI1):c.922C>T (p.Arg308Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002688132] |
Chr17:68430039 [GRCh38] Chr17:66426180 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.769+19T>G |
single nucleotide variant |
Carney complex, type 1 [RCV002837894] |
Chr17:68527919 [GRCh38] Chr17:66524060 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.550-18A>C |
single nucleotide variant |
Carney complex, type 1 [RCV003032557] |
Chr17:68525736 [GRCh38] Chr17:66521877 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1381T>C (p.Leu461=) |
single nucleotide variant |
not provided [RCV002996479] |
Chr17:68537722 [GRCh38] Chr17:66533863 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.348+16G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002996663] |
Chr17:68522942 [GRCh38] Chr17:66519083 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1301+15G>A |
single nucleotide variant |
not provided [RCV002755846] |
Chr17:68539870 [GRCh38] Chr17:66536011 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.10G>T (p.Gly4Cys) |
single nucleotide variant |
Carney complex, type 1 [RCV003034997] |
Chr17:68515409 [GRCh38] Chr17:66511550 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.441-20A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002839178] |
Chr17:68523996 [GRCh38] Chr17:66520137 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.463T>G (p.Ser155Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV002996620] |
Chr17:68524038 [GRCh38] Chr17:66520179 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550-16G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002871399] |
Chr17:68525738 [GRCh38] Chr17:66521879 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+2T>G |
single nucleotide variant |
Carney complex, type 1 [RCV002870847] |
Chr17:68524079 [GRCh38] Chr17:66520220 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.549+9T>C |
single nucleotide variant |
Carney complex, type 1 [RCV003003089] |
Chr17:68524967 [GRCh38] Chr17:66521108 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.550-12C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002953608] |
Chr17:68525742 [GRCh38] Chr17:66521883 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.349-13A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002870924] |
Chr17:68523712 [GRCh38] Chr17:66519853 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.488C>G (p.Thr163Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV002621190] |
Chr17:68524063 [GRCh38] Chr17:66520204 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.974-4C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002953742] |
Chr17:68530273 [GRCh38] Chr17:66526414 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1161C>T (p.Tyr387=) |
single nucleotide variant |
not provided [RCV002593380] |
Chr17:68540907 [GRCh38] Chr17:66537048 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.240T>C (p.Asp80=) |
single nucleotide variant |
Carney complex, type 1 [RCV003021053] |
Chr17:68522818 [GRCh38] Chr17:66518959 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.549+23del |
deletion |
Carney complex, type 1 [RCV002953503] |
Chr17:68524977 [GRCh38] Chr17:66521118 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.273T>G (p.Val91=) |
single nucleotide variant |
Carney complex, type 1 [RCV002824848] |
Chr17:68522851 [GRCh38] Chr17:66518992 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.177+12T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002638192] |
Chr17:68515588 [GRCh38] Chr17:66511729 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.594G>A (p.Gly198=) |
single nucleotide variant |
Carney complex, type 1 [RCV003020473] |
Chr17:68525798 [GRCh38] Chr17:66521939 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.550-11T>C |
single nucleotide variant |
Carney complex, type 1 [RCV003017985] |
Chr17:68525743 [GRCh38] Chr17:66521884 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.763_766del (p.Ser254_Ile255insTer) |
deletion |
Carney complex, type 1 [RCV002885197] |
Chr17:68527893..68527896 [GRCh38] Chr17:66524034..66524037 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.-7+7G>A |
single nucleotide variant |
Carney complex, type 1 [RCV003021316] |
Chr17:68512555 [GRCh38] Chr17:66508696 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.268G>A (p.Val90Met) |
single nucleotide variant |
Carney complex, type 1 [RCV002622536]|Hereditary cancer-predisposing syndrome [RCV003308197] |
Chr17:68522846 [GRCh38] Chr17:66518987 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.760G>A (p.Glu254Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002694597] |
Chr17:68433508 [GRCh38] Chr17:66429649 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1518C>A (p.Asp506Glu) |
single nucleotide variant |
not provided [RCV003021420] |
Chr17:68420403 [GRCh38] Chr17:66416544 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.177+16G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002886292] |
Chr17:68515592 [GRCh38] Chr17:66511733 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.827T>G (p.Phe276Cys) |
single nucleotide variant |
Carney complex, type 1 [RCV002796145] |
Chr17:68528927 [GRCh38] Chr17:66525068 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1316C>T (p.Ala439Val) |
single nucleotide variant |
not provided [RCV003018214] |
Chr17:68420201 [GRCh38] Chr17:66416342 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.366C>T (p.Tyr122=) |
single nucleotide variant |
Carney complex, type 1 [RCV002781562] |
Chr17:68523742 [GRCh38] Chr17:66519883 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1519C>A (p.Pro507Thr) |
single nucleotide variant |
not provided [RCV003053549] |
Chr17:68420404 [GRCh38] Chr17:66416545 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1357T>C (p.Cys453Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002912223] |
Chr17:68539341 [GRCh38] Chr17:66535482 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.1046G>A (p.Gly349Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002869003] |
Chr17:68428856 [GRCh38] Chr17:66424997 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1051G>A (p.Asp351Asn) |
single nucleotide variant |
not specified [RCV002510362] |
Chr17:68530354 [GRCh38] Chr17:66526495 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.440+16T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002705476] |
Chr17:68523832 [GRCh38] Chr17:66519973 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.973+8T>G |
single nucleotide variant |
Carney complex, type 1 [RCV003100568] |
Chr17:68530009 [GRCh38] Chr17:66526150 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.348+7T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002790340] |
Chr17:68522933 [GRCh38] Chr17:66519074 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.973+6T>C |
single nucleotide variant |
Carney complex, type 1 [RCV002627183] |
Chr17:68530007 [GRCh38] Chr17:66526148 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.180G>A (p.Glu60=) |
single nucleotide variant |
Carney complex, type 1 [RCV002668036]|Hereditary cancer-predisposing syndrome [RCV003375666]|not provided [RCV003228095] |
Chr17:68522758 [GRCh38] Chr17:66518899 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_017983.7(WIPI1):c.917C>T (p.Thr306Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002763381] |
Chr17:68430044 [GRCh38] Chr17:66426185 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.891+18T>C |
single nucleotide variant |
Carney complex, type 1 [RCV003005737] |
Chr17:68529009 [GRCh38] Chr17:66525150 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.797C>A (p.Thr266Lys) |
single nucleotide variant |
not provided [RCV002508629] |
Chr17:68528897 [GRCh38] Chr17:66525038 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-11C>G |
single nucleotide variant |
Carney complex, type 1 [RCV003006454] |
Chr17:68512544 [GRCh38] Chr17:66508685 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.958C>T (p.Pro320Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV002667264] |
Chr17:68529986 [GRCh38] Chr17:66526127 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.503-10C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002933405] |
Chr17:68524902 [GRCh38] Chr17:66521043 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.352A>G (p.Ile118Val) |
single nucleotide variant |
Carney complex, type 1 [RCV002624379] |
Chr17:68523728 [GRCh38] Chr17:66519869 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1286T>C (p.Leu429Pro) |
single nucleotide variant |
not provided [RCV003005398] |
Chr17:68539900 [GRCh38] Chr17:66536041 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.957G>A (p.Gly319=) |
single nucleotide variant |
Carney complex, type 1 [RCV002828934] |
Chr17:68529985 [GRCh38] Chr17:66526126 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1467C>T (p.Val489=) |
single nucleotide variant |
not provided [RCV002928913] |
Chr17:68420352 [GRCh38] Chr17:66416493 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1004T>G (p.Leu335Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002699150] |
Chr17:68542090 [GRCh38] Chr17:66538231 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.984A>T (p.Ala328=) |
single nucleotide variant |
Carney complex, type 1 [RCV003082104] |
Chr17:68530287 [GRCh38] Chr17:66526428 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1361+7T>C |
single nucleotide variant |
not provided [RCV002594964] |
Chr17:68539330 [GRCh38] Chr17:66535471 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.663G>A (p.Val221=) |
single nucleotide variant |
Carney complex, type 1 [RCV003057739] |
Chr17:68525867 [GRCh38] Chr17:66522008 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-7G>T |
single nucleotide variant |
Carney complex, type 1 [RCV002914745] |
Chr17:68512548 [GRCh38] Chr17:66508689 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.348+16G>C |
single nucleotide variant |
Carney complex, type 1 [RCV002890436] |
Chr17:68522942 [GRCh38] Chr17:66519083 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-7+5G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002593943] |
Chr17:68512553 [GRCh38] Chr17:66508694 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.348+11dup |
duplication |
Carney complex, type 1 [RCV002663990] |
Chr17:68522936..68522937 [GRCh38] Chr17:66519077..66519078 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1232G>A (p.Arg411Gln) |
single nucleotide variant |
not provided [RCV002574456] |
Chr17:68539954 [GRCh38] Chr17:66536095 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.441-14_441-12del |
deletion |
Carney complex, type 1 [RCV002851053] |
Chr17:68524000..68524002 [GRCh38] Chr17:66520141..66520143 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.162T>C (p.Phe54=) |
single nucleotide variant |
Carney complex, type 1 [RCV002931953] |
Chr17:68515561 [GRCh38] Chr17:66511702 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.150C>T (p.Leu50=) |
single nucleotide variant |
Carney complex, type 1 [RCV002766289] |
Chr17:68515549 [GRCh38] Chr17:66511690 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.178-11A>C |
single nucleotide variant |
Carney complex, type 1 [RCV002932038] |
Chr17:68522745 [GRCh38] Chr17:66518886 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1564T>C (p.Cys522Arg) |
single nucleotide variant |
not provided [RCV002801547] |
Chr17:68420449 [GRCh38] Chr17:66416590 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.775C>G (p.Leu259Val) |
single nucleotide variant |
Carney complex, type 1 [RCV003084306] |
Chr17:68528875 [GRCh38] Chr17:66525016 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.975G>A (p.Thr325=) |
single nucleotide variant |
not provided [RCV002982439] |
Chr17:68542119 [GRCh38] Chr17:66538260 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.177+10A>C |
single nucleotide variant |
Carney complex, type 1 [RCV002852582] |
Chr17:68515586 [GRCh38] Chr17:66511727 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1038C>T (p.Ser346=) |
single nucleotide variant |
not provided [RCV002958115] |
Chr17:68542056 [GRCh38] Chr17:66538197 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1220-7_1220-5del |
deletion |
not provided [RCV002914837] |
Chr17:68539971..68539973 [GRCh38] Chr17:66536112..66536114 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1398G>T (p.Leu466=) |
single nucleotide variant |
not provided [RCV002932660] |
Chr17:68537705 [GRCh38] Chr17:66533846 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.376G>A (p.Ala126Thr) |
single nucleotide variant |
Carney complex, type 1 [RCV002663389] |
Chr17:68523752 [GRCh38] Chr17:66519893 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.702C>A (p.Ile234=) |
single nucleotide variant |
Carney complex, type 1 [RCV003007881] |
Chr17:68525906 [GRCh38] Chr17:66522047 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.929-12C>T |
single nucleotide variant |
not provided [RCV002576015] |
Chr17:68542177 [GRCh38] Chr17:66538318 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017983.7(WIPI1):c.832T>A (p.Tyr278Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002916465] |
Chr17:68430129 [GRCh38] Chr17:66426270 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.87G>T (p.Ala29=) |
single nucleotide variant |
Carney complex, type 1 [RCV002596190] |
Chr17:68515486 [GRCh38] Chr17:66511627 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.953A>G (p.Lys318Arg) |
single nucleotide variant |
not provided [RCV002593898] |
Chr17:68542141 [GRCh38] Chr17:66538282 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.649C>G (p.Pro217Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002767812] |
Chr17:68434599 [GRCh38] Chr17:66430740 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.116G>A (p.Cys39Tyr) |
single nucleotide variant |
Carney complex, type 1 [RCV002745280] |
Chr17:68515515 [GRCh38] Chr17:66511656 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.178-19A>T |
single nucleotide variant |
Carney complex, type 1 [RCV002853030] |
Chr17:68522737 [GRCh38] Chr17:66518878 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.974-4C>G |
single nucleotide variant |
Carney complex, type 1 [RCV003091953] |
Chr17:68530273 [GRCh38] Chr17:66526414 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.441-2A>G |
single nucleotide variant |
Carney complex, type 1 [RCV003064483] |
Chr17:68524014 [GRCh38] Chr17:66520155 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.163G>C (p.Glu55Gln) |
single nucleotide variant |
Carney complex, type 1 [RCV003091803]|Hereditary cancer-predisposing syndrome [RCV003384331] |
Chr17:68515562 [GRCh38] Chr17:66511703 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1301+14C>T |
single nucleotide variant |
not provided [RCV002581481] |
Chr17:68539871 [GRCh38] Chr17:66536012 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.178-14G>C |
single nucleotide variant |
Carney complex, type 1 [RCV003065403] |
Chr17:68522742 [GRCh38] Chr17:66518883 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1589_1590inv (p.Leu530Ser) |
inversion |
not provided [RCV002675591] |
Chr17:68537513..68537514 [GRCh38] Chr17:66533654..66533655 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.46C>G (p.Arg16Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV003091914]|Hereditary cancer-predisposing syndrome [RCV003294497] |
Chr17:68515445 [GRCh38] Chr17:66511586 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1440C>G (p.Pro480=) |
single nucleotide variant |
not provided [RCV002581927] |
Chr17:68420325 [GRCh38] Chr17:66416466 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.992G>A (p.Gly331Asp) |
single nucleotide variant |
not provided [RCV003064486] |
Chr17:68542102 [GRCh38] Chr17:66538243 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.770-12C>T |
single nucleotide variant |
Carney complex, type 1 [RCV002835075] |
Chr17:68528858 [GRCh38] Chr17:66524999 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.348+15T>G |
single nucleotide variant |
Carney complex, type 1 [RCV003086768] |
Chr17:68522941 [GRCh38] Chr17:66519082 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1565T>C (p.Ile522Thr) |
single nucleotide variant |
not provided [RCV002578901] |
Chr17:68537538 [GRCh38] Chr17:66533679 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1431G>C (p.Met477Ile) |
single nucleotide variant |
not provided [RCV002963249] |
Chr17:68537672 [GRCh38] Chr17:66533813 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.474T>C (p.Phe158=) |
single nucleotide variant |
Carney complex, type 1 [RCV002629472] |
Chr17:68524049 [GRCh38] Chr17:66520190 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-32_-16dup |
duplication |
Carney complex, type 1 [RCV003043993] |
Chr17:68512519..68512520 [GRCh38] Chr17:66508660..66508661 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.198G>A (p.Gln66=) |
single nucleotide variant |
Carney complex, type 1 [RCV003027035] |
Chr17:68522776 [GRCh38] Chr17:66518917 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1220-10T>C |
single nucleotide variant |
not provided [RCV003046911] |
Chr17:68539976 [GRCh38] Chr17:66536117 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1561C>T (p.Arg521Cys) |
single nucleotide variant |
not provided [RCV002597558] |
Chr17:68420446 [GRCh38] Chr17:66416587 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.877T>A (p.Phe293Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV002856759] |
Chr17:68528977 [GRCh38] Chr17:66525118 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1332G>A (p.Thr444=) |
single nucleotide variant |
not provided [RCV002601662] |
Chr17:68420217 [GRCh38] Chr17:66416358 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.445A>T (p.Ile149Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV003029177] |
Chr17:68524020 [GRCh38] Chr17:66520161 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.441-16del |
deletion |
Carney complex, type 1 [RCV003046216] |
Chr17:68523999 [GRCh38] Chr17:66520140 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1108_1109+1del |
microsatellite |
not provided [RCV002598313] |
Chr17:68541984..68541986 [GRCh38] Chr17:66538125..66538127 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1452G>C (p.Lys484Asn) |
single nucleotide variant |
not provided [RCV002720111] |
Chr17:68420337 [GRCh38] Chr17:66416478 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.974-20C>A |
single nucleotide variant |
Carney complex, type 1 [RCV003090319] |
Chr17:68530257 [GRCh38] Chr17:66526398 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.709-11T>G |
single nucleotide variant |
Carney complex, type 1 [RCV002938062] |
Chr17:68527829 [GRCh38] Chr17:66523970 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1001C>A (p.Pro334His) |
single nucleotide variant |
Carney complex, type 1 [RCV002810811] |
Chr17:68530304 [GRCh38] Chr17:66526445 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1545C>T (p.Ala515=) |
single nucleotide variant |
not provided [RCV002597648] |
Chr17:68537558 [GRCh38] Chr17:66533699 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017983.7(WIPI1):c.1069C>T (p.His357Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002921153] |
Chr17:68428833 [GRCh38] Chr17:66424974 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.502+4A>C |
single nucleotide variant |
Carney complex, type 1 [RCV003091883] |
Chr17:68524081 [GRCh38] Chr17:66520222 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1098C>A (p.Leu366=) |
single nucleotide variant |
Carney complex, type 1 [RCV003027961] |
Chr17:68530401 [GRCh38] Chr17:66526542 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.513G>T (p.Gly171=) |
single nucleotide variant |
Carney complex, type 1 [RCV002939026] |
Chr17:68524922 [GRCh38] Chr17:66521063 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.787G>T (p.Glu263Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV003048792] |
Chr17:68528887 [GRCh38] Chr17:66525028 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017565.4(FAM20A):c.742C>T (p.Pro248Ser) |
single nucleotide variant |
not provided [RCV002895577] |
Chr17:68543699 [GRCh38] Chr17:66539840 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.-7+7G>T |
single nucleotide variant |
Carney complex, type 1 [RCV002672268] |
Chr17:68512555 [GRCh38] Chr17:66508696 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.178-12A>G |
single nucleotide variant |
Carney complex, type 1 [RCV002580379] |
Chr17:68522744 [GRCh38] Chr17:66518885 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+7G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002631346] |
Chr17:68524084 [GRCh38] Chr17:66520225 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.989T>C (p.Leu330Pro) |
single nucleotide variant |
Carney complex, type 1 [RCV002604472] |
Chr17:68530292 [GRCh38] Chr17:66526433 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.256C>T (p.Pro86Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV002603382] |
Chr17:68522834 [GRCh38] Chr17:66518975 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.389A>G (p.Lys130Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV002602981] |
Chr17:68523765 [GRCh38] Chr17:66519906 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.268G>C (p.Val90Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV003052456] |
Chr17:68522846 [GRCh38] Chr17:66518987 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.770-16G>A |
single nucleotide variant |
Carney complex, type 1 [RCV002605515] |
Chr17:68528854 [GRCh38] Chr17:66524995 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.114G>A (p.Leu38=) |
single nucleotide variant |
Carney complex, type 1 [RCV002584177] |
Chr17:68515513 [GRCh38] Chr17:66511654 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.796A>G (p.Thr266Ala) |
single nucleotide variant |
Carney complex, type 1 [RCV002814481] |
Chr17:68528896 [GRCh38] Chr17:66525037 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1610C>T (p.Ala537Val) |
single nucleotide variant |
not provided [RCV002603087] |
Chr17:68537493 [GRCh38] Chr17:66533634 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+18A>T |
single nucleotide variant |
Carney complex, type 1 [RCV002585627] |
Chr17:68524095 [GRCh38] Chr17:66520236 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1306G>A (p.Gly436Arg) |
single nucleotide variant |
not provided [RCV002608186] |
Chr17:68539392 [GRCh38] Chr17:66535533 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs) |
microsatellite |
Carney complex, type 1 [RCV002611112]|Hereditary cancer-predisposing syndrome [RCV003377893] |
Chr17:68529958..68529959 [GRCh38] Chr17:66526099..66526100 [GRCh37] Chr17:17q24.2 |
pathogenic|likely pathogenic |
NM_002734.5(PRKAR1A):c.549+22_549+23dup |
duplication |
Carney complex, type 1 [RCV003051211] |
Chr17:68524976..68524977 [GRCh38] Chr17:66521117..66521118 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1035G>A (p.Pro345=) |
single nucleotide variant |
not provided [RCV003068932] |
Chr17:68542059 [GRCh38] Chr17:66538200 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1490A>C (p.Asn497Thr) |
single nucleotide variant |
not provided [RCV002589981] |
Chr17:68420375 [GRCh38] Chr17:66416516 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.376G>T (p.Ala126Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296674] |
Chr17:68523752 [GRCh38] Chr17:66519893 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.202C>G (p.Leu68Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296684] |
Chr17:68522780 [GRCh38] Chr17:66518921 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.140T>C (p.Met47Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165332] |
Chr17:68515539 [GRCh38] Chr17:66511680 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.140T>A (p.Met47Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003216337] |
Chr17:68515539 [GRCh38] Chr17:66511680 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.926A>T (p.Asn309Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165334] |
Chr17:68529954 [GRCh38] Chr17:66526095 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.738T>C (p.Tyr246=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165328] |
Chr17:68527869 [GRCh38] Chr17:66524010 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1077T>G (p.Leu359=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165330] |
Chr17:68530380 [GRCh38] Chr17:66526521 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.297T>A (p.Ala99=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165325] |
Chr17:68522875 [GRCh38] Chr17:66519016 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu) |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV003147166]|not provided [RCV003321981] |
Chr17:68540858 [GRCh38] Chr17:66536999 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1361+1G>A |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV003154872] |
Chr17:68539336 [GRCh38] Chr17:66535477 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_017565.4(FAM20A):c.1301+5G>A |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV003155533] |
Chr17:68539880 [GRCh38] Chr17:66536021 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.123T>C (p.Ala41=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176540] |
Chr17:68515522 [GRCh38] Chr17:66511663 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.537A>C (p.Gln179His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176539] |
Chr17:68524946 [GRCh38] Chr17:66521087 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1423G>A (p.Asp475Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003205987] |
Chr17:68537680 [GRCh38] Chr17:66533821 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.984A>C (p.Ala328=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003204551] |
Chr17:68530287 [GRCh38] Chr17:66526428 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.855G>A (p.Gln285=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165333] |
Chr17:68528955 [GRCh38] Chr17:66525096 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.976_978del (p.Glu326del) |
deletion |
Amelogenesis imperfecta type 1G [RCV003154871] |
Chr17:68542116..68542118 [GRCh38] Chr17:66538257..66538259 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.928+2T>C |
single nucleotide variant |
Amelogenesis imperfecta type 1G [RCV003155005] |
Chr17:68542692 [GRCh38] Chr17:66538833 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_017565.4(FAM20A):c.1615T>G (p.Leu539Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003215387] |
Chr17:68537488 [GRCh38] Chr17:66533629 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.613T>G (p.Leu205Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165324] |
Chr17:68525817 [GRCh38] Chr17:66521958 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1094T>C (p.Ile365Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165327] |
Chr17:68530397 [GRCh38] Chr17:66526538 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.129T>G (p.Pro43=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165326] |
Chr17:68515528 [GRCh38] Chr17:66511669 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.969T>C (p.Tyr323=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165329] |
Chr17:68529997 [GRCh38] Chr17:66526138 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.897A>G (p.Ser299=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165331] |
Chr17:68529925 [GRCh38] Chr17:66526066 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.-6-1G>A |
single nucleotide variant |
not provided [RCV003323108] |
Chr17:68515393 [GRCh38] Chr17:66511534 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.569G>A (p.Trp190Ter) |
single nucleotide variant |
not provided [RCV003325796] |
Chr17:68525773 [GRCh38] Chr17:66521914 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_017983.7(WIPI1):c.847T>C (p.Phe283Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003340113] |
Chr17:68430114 [GRCh38] Chr17:66426255 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.1220G>A (p.Arg407Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003374348] |
Chr17:68426148 [GRCh38] Chr17:66422289 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.229T>C (p.Ser77Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003381236] |
Chr17:68522807 [GRCh38] Chr17:66518948 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.311T>A (p.Val104Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377744] |
Chr17:68522889 [GRCh38] Chr17:66519030 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.835G>A (p.Gly279Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377745] |
Chr17:68528935 [GRCh38] Chr17:66525076 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.891+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377746] |
Chr17:68528993 [GRCh38] Chr17:66525134 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.271G>C (p.Val91Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377748] |
Chr17:68522849 [GRCh38] Chr17:66518990 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.725A>C (p.Lys242Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377749] |
Chr17:68527856 [GRCh38] Chr17:66523997 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.222T>G (p.Arg74=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377750] |
Chr17:68522800 [GRCh38] Chr17:66518941 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1429G>C (p.Ala477Pro) |
single nucleotide variant |
not provided [RCV003675450] |
Chr17:68420314 [GRCh38] Chr17:66416455 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003463374] |
Chr17:68525766 [GRCh38] Chr17:66521907 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.917T>C (p.Phe306Ser) |
single nucleotide variant |
not provided [RCV003682287] |
Chr17:68542705 [GRCh38] Chr17:66538846 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1361+15A>G |
single nucleotide variant |
not provided [RCV003671780] |
Chr17:68539322 [GRCh38] Chr17:66535463 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1413_1429del (p.Gly472fs) |
deletion |
not provided [RCV003686867] |
Chr17:68420295..68420311 [GRCh38] Chr17:66416436..66416452 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.939G>A (p.Val313=) |
single nucleotide variant |
not provided [RCV003687728] |
Chr17:68542155 [GRCh38] Chr17:66538296 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1304-6C>T |
single nucleotide variant |
not provided [RCV003681720] |
Chr17:68420183 [GRCh38] Chr17:66416324 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1301+8T>G |
single nucleotide variant |
not provided [RCV003683039] |
Chr17:68539877 [GRCh38] Chr17:66536018 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1309C>T (p.Arg437Ter) |
single nucleotide variant |
not provided [RCV003665388] |
Chr17:68539389 [GRCh38] Chr17:66535530 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1395T>C (p.Ala465=) |
single nucleotide variant |
not provided [RCV003693618] |
Chr17:68420280 [GRCh38] Chr17:66416421 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1572C>T (p.Asp524=) |
single nucleotide variant |
not provided [RCV003720507] |
Chr17:68537531 [GRCh38] Chr17:66533672 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1484T>C (p.Leu495Pro) |
single nucleotide variant |
not provided [RCV003716642] |
Chr17:68537619 [GRCh38] Chr17:66533760 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003463376] |
Chr17:68525851 [GRCh38] Chr17:66521992 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66508519)_(66529573_?)dup |
duplication |
not specified [RCV003388343] |
Chr17:66508519..66529573 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017565.4(FAM20A):c.1109+6T>G |
single nucleotide variant |
FAM20A-related condition [RCV003392898] |
Chr17:68541979 [GRCh38] Chr17:66538120 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu) |
single nucleotide variant |
Acrodysostosis 1 with or without hormone resistance [RCV003463377] |
Chr17:68523792 [GRCh38] Chr17:66519933 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.973+54G>A |
single nucleotide variant |
not provided [RCV003413320] |
Chr17:68530055 [GRCh38] Chr17:66526196 [GRCh37] Chr17:17q24.2 |
benign |
NM_002734.5(PRKAR1A):c.*2934T>C |
single nucleotide variant |
not provided [RCV003413321] |
Chr17:68533383 [GRCh38] Chr17:66529524 [GRCh37] Chr17:17q24.2 |
benign |
NM_017565.4(FAM20A):c.1173G>A (p.Gln391=) |
single nucleotide variant |
not provided [RCV003428426] |
Chr17:68540895 [GRCh38] Chr17:66537036 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.195T>G (p.Ile65Met) |
single nucleotide variant |
Carney complex, type 1 [RCV003626400] |
Chr17:68522773 [GRCh38] Chr17:66518914 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.918G>C (p.Arg306=) |
single nucleotide variant |
Carney complex, type 1 [RCV003628026] |
Chr17:68529946 [GRCh38] Chr17:66526087 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.973+20C>A |
single nucleotide variant |
Carney complex, type 1 [RCV003626584] |
Chr17:68530021 [GRCh38] Chr17:66526162 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.455C>T (p.Ala152Val) |
single nucleotide variant |
Carney complex, type 1 [RCV003628519] |
Chr17:68524030 [GRCh38] Chr17:66520171 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.709-15T>A |
single nucleotide variant |
Carney complex, type 1 [RCV003627041] |
Chr17:68527825 [GRCh38] Chr17:66523966 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.402G>C (p.Lys134Asn) |
single nucleotide variant |
Carney complex, type 1 [RCV003627452] |
Chr17:68523778 [GRCh38] Chr17:66519919 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.1025G>T (p.Arg342Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV003626124] |
Chr17:68530328 [GRCh38] Chr17:66526469 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.529A>C (p.Ile177Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV003627805] |
Chr17:68524938 [GRCh38] Chr17:66521079 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.957G>T (p.Gly319=) |
single nucleotide variant |
Carney complex, type 1 [RCV003627826] |
Chr17:68529985 [GRCh38] Chr17:66526126 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1110-8C>A |
single nucleotide variant |
not provided [RCV003567779] |
Chr17:68540966 [GRCh38] Chr17:66537107 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.784T>C (p.Trp262Arg) |
single nucleotide variant |
Carney complex, type 1 [RCV003626273] |
Chr17:68528884 [GRCh38] Chr17:66525025 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.243G>A (p.Glu81=) |
single nucleotide variant |
Carney complex, type 1 [RCV003627934] |
Chr17:68522821 [GRCh38] Chr17:66518962 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.892-11T>C |
single nucleotide variant |
Carney complex, type 1 [RCV003628594] |
Chr17:68529909 [GRCh38] Chr17:66526050 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.709-4T>G |
single nucleotide variant |
Carney complex, type 1 [RCV003626407] |
Chr17:68527836 [GRCh38] Chr17:66523977 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1120A>G (p.Asn374Asp) |
single nucleotide variant |
Carney complex, type 1 [RCV003626510] |
Chr17:68530423 [GRCh38] Chr17:66526564 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.757G>A (p.Val253Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV003627344] |
Chr17:68527888 [GRCh38] Chr17:66524029 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.868G>T (p.Asp290Tyr) |
single nucleotide variant |
Carney complex, type 1 [RCV003628086] |
Chr17:68528968 [GRCh38] Chr17:66525109 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.117C>T (p.Cys39=) |
single nucleotide variant |
Carney complex, type 1 [RCV003627492] |
Chr17:68515516 [GRCh38] Chr17:66511657 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.809C>G (p.Ala270Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV003628309] |
Chr17:68528909 [GRCh38] Chr17:66525050 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.348+9G>C |
single nucleotide variant |
Carney complex, type 1 [RCV003627609] |
Chr17:68522935 [GRCh38] Chr17:66519076 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.716C>T (p.Thr239Ile) |
single nucleotide variant |
Carney complex, type 1 [RCV003627617] |
Chr17:68527847 [GRCh38] Chr17:66523988 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.441-20_441-19del |
deletion |
Carney complex, type 1 [RCV003626889] |
Chr17:68523995..68523996 [GRCh38] Chr17:66520136..66520137 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1048C>T (p.Leu350=) |
single nucleotide variant |
Carney complex, type 1 [RCV003627734] |
Chr17:68530351 [GRCh38] Chr17:66526492 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.501A>G (p.Gln167=) |
single nucleotide variant |
Carney complex, type 1 [RCV003626116] |
Chr17:68524076 [GRCh38] Chr17:66520217 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.131A>G (p.Glu44Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV003627509] |
Chr17:68515530 [GRCh38] Chr17:66511671 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.440+11G>A |
single nucleotide variant |
Carney complex, type 1 [RCV003626470] |
Chr17:68523827 [GRCh38] Chr17:66519968 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.1242T>C (p.Tyr414=) |
single nucleotide variant |
not provided [RCV003559108] |
Chr17:68539944 [GRCh38] Chr17:66536085 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017565.4(FAM20A):c.907_908del (p.Ser303fs) |
microsatellite |
not provided [RCV003559245] |
Chr17:68542714..68542715 [GRCh38] Chr17:66538855..66538856 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.393C>T (p.Ala131=) |
single nucleotide variant |
Carney complex, type 1 [RCV003626178] |
Chr17:68523769 [GRCh38] Chr17:66519910 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.709-13T>C |
single nucleotide variant |
Carney complex, type 1 [RCV003628498] |
Chr17:68527827 [GRCh38] Chr17:66523968 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.998del (p.Arg333fs) |
deletion |
Carney complex, type 1 [RCV003628563] |
Chr17:68530301 [GRCh38] Chr17:66526442 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.503-6T>C |
single nucleotide variant |
Carney complex, type 1 [RCV003626286] |
Chr17:68524906 [GRCh38] Chr17:66521047 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.348+20A>G |
single nucleotide variant |
Carney complex, type 1 [RCV003626442] |
Chr17:68522946 [GRCh38] Chr17:66519087 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.502+10T>A |
single nucleotide variant |
Carney complex, type 1 [RCV003627938] |
Chr17:68524087 [GRCh38] Chr17:66520228 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.899C>G (p.Ala300Gly) |
single nucleotide variant |
Carney complex, type 1 [RCV003627959] |
Chr17:68529927 [GRCh38] Chr17:66526068 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.825G>T (p.Gln275His) |
single nucleotide variant |
Carney complex, type 1 [RCV003627153] |
Chr17:68528925 [GRCh38] Chr17:66525066 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.549+1G>A |
single nucleotide variant |
Carney complex, type 1 [RCV003627996] |
Chr17:68524959 [GRCh38] Chr17:66521100 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_002734.5(PRKAR1A):c.1082C>T (p.Pro361Leu) |
single nucleotide variant |
Carney complex, type 1 [RCV003628004] |
Chr17:68530385 [GRCh38] Chr17:66526526 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550-8C>A |
single nucleotide variant |
Carney complex, type 1 [RCV003626557] |
Chr17:68525746 [GRCh38] Chr17:66521887 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.1030C>T (p.Pro344Ser) |
single nucleotide variant |
Carney complex, type 1 [RCV003628016] |
Chr17:68530333 [GRCh38] Chr17:66526474 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.769+16T>C |
single nucleotide variant |
Carney complex, type 1 [RCV003627912] |
Chr17:68527916 [GRCh38] Chr17:66524057 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.440+11del |
deletion |
Carney complex, type 1 [RCV003626536] |
Chr17:68523826 [GRCh38] Chr17:66519967 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.940G>T (p.Glu314Ter) |
single nucleotide variant |
Carney complex, type 1 [RCV003628491] |
Chr17:68529968 [GRCh38] Chr17:66526109 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.859G>A (p.Glu287Lys) |
single nucleotide variant |
Carney complex, type 1 [RCV003628578] |
Chr17:68528959 [GRCh38] Chr17:66525100 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.902C>T (p.Ala301Val) |
single nucleotide variant |
Carney complex, type 1 [RCV003628599] |
Chr17:68529930 [GRCh38] Chr17:66526071 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.973+18C>T |
single nucleotide variant |
Carney complex, type 1 [RCV003627292] |
Chr17:68530019 [GRCh38] Chr17:66526160 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.332C>T (p.Ala111Val) |
single nucleotide variant |
Carney complex, type 1 [RCV003626928] |
Chr17:68522910 [GRCh38] Chr17:66519051 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.58C>T (p.Leu20Phe) |
single nucleotide variant |
Carney complex, type 1 [RCV003627135] |
Chr17:68515457 [GRCh38] Chr17:66511598 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.780C>G (p.Asp260Glu) |
single nucleotide variant |
Carney complex, type 1 [RCV003627067] |
Chr17:68528880 [GRCh38] Chr17:66525021 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.550-9G>T |
single nucleotide variant |
Carney complex, type 1 [RCV003628247] |
Chr17:68525745 [GRCh38] Chr17:66521886 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.503-12A>G |
single nucleotide variant |
Carney complex, type 1 [RCV003627579] |
Chr17:68524900 [GRCh38] Chr17:66521041 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.493_497delinsGGCCTCTGTAAGGTAAGG (p.Ile165fs) |
indel |
Carney complex, type 1 [RCV003627422] |
Chr17:68524068..68524072 [GRCh38] Chr17:66520209..66520213 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_002734.5(PRKAR1A):c.1040_1041delinsTT (p.Cys347Phe) |
indel |
Carney complex, type 1 [RCV003628455] |
Chr17:68530343..68530344 [GRCh38] Chr17:66526484..66526485 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_002734.5(PRKAR1A):c.744A>G (p.Glu248=) |
single nucleotide variant |
Carney complex, type 1 [RCV003627578] |
Chr17:68527875 [GRCh38] Chr17:66524016 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.585G>A (p.Gly195=) |
single nucleotide variant |
Carney complex, type 1 [RCV003626445] |
Chr17:68525789 [GRCh38] Chr17:66521930 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_002734.5(PRKAR1A):c.974-12T>C |
single nucleotide variant |
Carney complex, type 1 [RCV003628062] |
Chr17:68530265 [GRCh38] Chr17:66526406 [GRCh37] Chr17:17q24.2 |
uncertain significance |