ClinVar Miner

List of variants reported as pathogenic for Carney complex

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NC_000017.11:g.(?_68512379)_(68512548_?)del
NC_000017.11:g.(?_68512379)_(68530459_?)del
NC_000017.11:g.(?_68512379)_(68533431_?)del
NC_000017.11:g.(?_68515384)_(68529001_?)del
NC_000017.11:g.(?_68515394)_(68515576_?)del
NC_000017.11:g.(?_68515394)_(68530455_?)del
NC_000017.11:g.(?_68528870)_(68530449_?)del
NM_002472.2(MYH8):c.2021G>A (p.Arg674Gln) rs121434590
NM_002734.3(PRKAR1A):c.491_492delTG (p.Val164Aspfs) rs281864790
NM_002734.3(PRKAR1A):c.623delG (p.Gly208Glufs) rs727503379
NM_002734.4(PRKAR1A):c.177+1G>A rs1555811753
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_002734.4(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.4(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.4(PRKAR1A):c.662_663delTG (p.Val221Glufs)
NM_002734.4(PRKAR1A):c.671G>A (p.Trp224Ter)
NM_002734.4(PRKAR1A):c.764_768delTTTTA (p.Ile255Argfs) rs1555814477
NM_002734.4(PRKAR1A):c.812dup (p.Leu271Phefs)
NM_212472.2(PRKAR1A):c.101_105del (p.Ser34Cysfs) rs281864788
NM_212472.2(PRKAR1A):c.109C>T (p.Gln37Ter) rs281864781
NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter) rs281864782
NM_212472.2(PRKAR1A):c.139del (p.Met47Trpfs) rs281864789
NM_212472.2(PRKAR1A):c.177+3A>G rs797044568
NM_212472.2(PRKAR1A):c.178-2A>G rs281864796
NM_212472.2(PRKAR1A):c.178_348del171 (p.Glu60_Lys116del) rs1555813158
NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_212472.2(PRKAR1A):c.348+1G>C rs281864797
NM_212472.2(PRKAR1A):c.550-9_550-2del rs281864800
NM_212472.2(PRKAR1A):c.566_567delAAinsCAC (p.Glu189Alafs) rs281864792
NM_212472.2(PRKAR1A):c.638C>A (p.Ala213Asp) rs281864786
NM_212472.2(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_212472.2(PRKAR1A):c.693_694insT (p.Arg232Terfs) rs281864793
NM_212472.2(PRKAR1A):c.708+1G>T rs281864798
NM_212472.2(PRKAR1A):c.709-7_709-2delTTTTTA rs281864801
NM_212472.2(PRKAR1A):c.712_713insAA (p.Ser238Lysfs) rs281864794
NM_212472.2(PRKAR1A):c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_212472.2(PRKAR1A):c.82C>T (p.Gln28Ter) rs281864780
NM_212472.2(PRKAR1A):c.846_847insA (p.Val283Serfs) rs281864795
NM_212472.2(PRKAR1A):c.85_95del (p.Ala29Argfs) rs281864787
NM_212472.2(PRKAR1A):c.891+3A>G rs281864799
PRKAR1A, 1-BP DEL, 710G
PRKAR1A, 2-BP DEL, 576TG
PRKAR1A, 2-BP DEL, 845TC

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