ClinVar for MedGen (Select 477858) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 101

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678069	NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu)	PRKAR1A (S139L)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 2678068	NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr)	PRKAR1A (K216T)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance	GUncertain significance
Select item 2678066	NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr)	PRKAR1A (N188Y)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 1588288	NM_002734.5(PRKAR1A):c.502+12_502+13del	PRKAR1A	Deletion (intron variant)	Familial atrial myxoma +3 more	GLikely benign
Select item 1562854	NM_002734.5(PRKAR1A):c.503-13dup	PRKAR1A	Duplication (intron variant)	Carney complex, type 1 +4 more	GBenign/Likely benign
Select item 1434726	NM_002734.5(PRKAR1A):c.549+20A>G	PRKAR1A	Single nucleotide variant (intron variant)	Familial atrial myxoma +3 more	GConflicting classifications of pathogenicity
Select item 1425542	NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His)	PRKAR1A (Y231H)	Single nucleotide variant (missense variant)	Familial atrial myxoma +3 more	GUncertain significance
Select item 1423807	NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile)	PRKAR1A (V184I)	Single nucleotide variant (missense variant)	Familial atrial myxoma +3 more	GUncertain significance
Select item 1327444	NM_002734.5(PRKAR1A):c.998G>A (p.Arg333His)	PRKAR1A (R333H)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1 +1 more	GBenign
Select item 1268350	NM_002734.5(PRKAR1A):c.892-34G>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1252556	NM_002734.5(PRKAR1A):c.770-24G>A	PRKAR1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1057221	NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp)	PRKAR1A (N220D)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +2 more	GUncertain significance
Select item 952943	NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys)	PRKAR1A (R13C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 892521	NM_002734.5(PRKAR1A):c.770-8T>G	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 892466	NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys)	PRKAR1A (E10K)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +2 more	GUncertain significance
Select item 891840	NM_001276290.1(PRKAR1A):c.973+3439G>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 891839	NM_002734.5(PRKAR1A):c.*2940G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 891838	NM_002734.5(PRKAR1A):c.*2844A>C	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GBenign
Select item 891771	NM_002734.5(PRKAR1A):c.*1838A>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 891710	NM_002734.5(PRKAR1A):c.*1111C>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 891709	NM_002734.5(PRKAR1A):c.*1085G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 891584	NM_002734.5(PRKAR1A):c.*2212C>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GBenign
Select item 891530	NM_002734.5(PRKAR1A):c.*1687T>C	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 891449	NM_002734.5(PRKAR1A):c.*1057G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GBenign
Select item 891448	NM_002734.5(PRKAR1A):c.*1003C>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 891389	NM_002734.5(PRKAR1A):c.*609C>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 891388	NM_002734.5(PRKAR1A):c.*560G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 891387	NM_002734.5(PRKAR1A):c.*535T>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 890029	NM_002734.5(PRKAR1A):c.*2152T>C	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 890028	NM_002734.5(PRKAR1A):c.*2114G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 890027	NM_002734.5(PRKAR1A):c.*2089A>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 889965	NM_002734.5(PRKAR1A):c.*1640C>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 889842	NM_002734.5(PRKAR1A):c.*384C>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 889841	NM_002734.5(PRKAR1A):c.*331G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 889722	NM_212472.2(PRKAR1A):c.-200T>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 889340	NM_002734.5(PRKAR1A):c.*1949G>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 889222	NM_002734.5(PRKAR1A):c.*812A>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 889161	NM_002734.5(PRKAR1A):c.*299T>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 889160	NM_002734.5(PRKAR1A):c.*233C>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 833813	NM_002734.5(PRKAR1A):c.-11C>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	PRKAR1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 827371	NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met)	PRKAR1A (T266M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 661298	NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln)	PRKAR1A (R42Q)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +2 more	GUncertain significance
Select item 644694	NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del)	PRKAR1A (D143del)	Microsatellite (inframe_deletion)	Carney complex, type 1 +3 more	GUncertain significance
Select item 640335	NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr)	PRKAR1A (P119T)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 638955	NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly)	PRKAR1A (S9G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 638687	NM_002734.5(PRKAR1A):c.620A>G (p.Tyr207Cys)	PRKAR1A (Y207C)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance	GLikely pathogenic
Select item 580520	NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu)	PRKAR1A (S155L)	Single nucleotide variant (missense variant)	Carney complex, type 1 +4 more	GUncertain significance
Select item 579659	NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr)	PRKAR1A (A111T)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 536890	NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His)	PRKAR1A (R342H)	Single nucleotide variant (missense variant +1 more)	Familial atrial myxoma +4 more	GConflicting classifications of pathogenicity
Select item 536888	NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr)	PRKAR1A (A191T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 469080	NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu)	PRKAR1A (K32E)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +2 more	GUncertain significance
Select item 469074	NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 469069	NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn)	PRKAR1A (S199N)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +4 more	GConflicting classifications of pathogenicity
Select item 433148	NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)	PRKAR1A (R335C)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1 +4 more	GLikely pathogenic
Select item 413787	NM_002734.5(PRKAR1A):c.770-9G>T	PRKAR1A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 413782	NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 413781	NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +3 more	GBenign/Likely benign
Select item 406172	NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg)	PRKAR1A (K24R)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +2 more	GUncertain significance
Select item 406171	NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys)	PRKAR1A (R342C)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 1 with or without hormone resistance +5 more	GConflicting classifications of pathogenicity
Select item 378429	NM_002734.5(PRKAR1A):c.440+15T>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +3 more	GBenign
Select item 324821	NM_002734.5(PRKAR1A):c.*2197G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324820	NM_002734.5(PRKAR1A):c.*2196C>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324818	NM_002734.5(PRKAR1A):c.*2072G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324817	NM_002734.5(PRKAR1A):c.*2067T>C	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324816	NM_002734.5(PRKAR1A):c.*2018C>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324815	NM_002734.5(PRKAR1A):c.*1842A>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324814	NM_002734.5(PRKAR1A):c.*1839G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324810	NM_002734.5(PRKAR1A):c.*1606A>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GBenign
Select item 324809	NM_002734.5(PRKAR1A):c.*1487C>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 324808	NM_002734.5(PRKAR1A):c.*1346A>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 324805	NM_002734.5(PRKAR1A):c.*1168A>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324803	NM_002734.5(PRKAR1A):c.*1062A>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324802	NM_002734.5(PRKAR1A):c.*1014A>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324801	NM_002734.5(PRKAR1A):c.*893G>C	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 324798	NM_002734.5(PRKAR1A):c.*812A>C	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +2 more	GBenign/Likely benign
Select item 324797	NM_002734.5(PRKAR1A):c.*795G>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GBenign
Select item 324795	NM_002734.5(PRKAR1A):c.*724T>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 324794	NM_002734.5(PRKAR1A):c.*722A>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324793	NM_002734.5(PRKAR1A):c.*704T>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 324792	NM_002734.5(PRKAR1A):c.*672T>C	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GBenign
Select item 324789	NM_002734.5(PRKAR1A):c.*526G>A	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 324788	NM_002734.5(PRKAR1A):c.*389T>G	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 324786	NM_002734.5(PRKAR1A):c.*156C>T	PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Carney complex, type 1 +1 more	GUncertain significance
Select item 324783	NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Acrodysostosis 1 with or without hormone resistance +3 more	GBenign/Likely benign
Select item 324782	NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 324781	NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val)	PRKAR1A (I35V)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +3 more	GConflicting classifications of pathogenicity
Select item 324780	NM_002734.5(PRKAR1A):c.-6-7C>T	PRKAR1A	Single nucleotide variant (intron variant)	Acrodysostosis 1 with or without hormone resistance +1 more	GBenign/Likely benign
Select item 324779	NM_002734.5(PRKAR1A):c.-16C>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +2 more	GConflicting classifications of pathogenicity
Select item 324778	NM_002734.5(PRKAR1A):c.-25C>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GUncertain significance
Select item 324776	NM_002734.5(PRKAR1A):c.-75G>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	Acrodysostosis 1 with or without hormone resistance +1 more	GBenign
Select item 279877	NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)	PRKAR1A (R16*)	Single nucleotide variant (nonsense)	Carney complex, type 1 +3 more	GPathogenic
Select item 239385	NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 239382	NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)	PRKAR1A (R74H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 41046	NM_002734.5(PRKAR1A):c.349-5dup	PRKAR1A	Duplication (intron variant)	not provided +6 more	GBenign
Select item 41044	NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 29910	NM_002734.5(PRKAR1A):c.980T>C (p.Ile327Thr)	PRKAR1A (I327T)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 1 with or without hormone resistance	GPathogenic
Select item 29909	NM_002734.5(PRKAR1A):c.1004G>C (p.Arg335Pro)	PRKAR1A (R335P)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 1 with or without hormone resistance	GPathogenic
Select item 29908	NM_002734.5(PRKAR1A):c.1117T>C (p.Tyr373His)	PRKAR1A (Y373H)	Single nucleotide variant (missense variant +1 more)	Carney complex, type 1	GUncertain significance
Select item 29907	NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)	PRKAR1A (R368*)	Single nucleotide variant (nonsense +1 more)	PRKAR1A-related disorder +3 more	GPathogenic
Select item 12675	NM_002734.5(PRKAR1A):c.709-7_709-2del	PRKAR1A	Microsatellite (splice acceptor variant)	Carney complex, type 1 +3 more	GPathogenic

<< First< Prev

Page of 2