"GeneDx"[submitter] AND "PRKAR1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169210	NM_001267727.2(ARSG):c.1331C>T (p.Thr444Met)	ARSG, PRKAR1A (T443M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 769925	NM_001267727.2(ARSG):c.1485C>T (p.Asn495=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1249590	NM_001267727.2(ARSG):c.*32C>T	ARSG, PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1295447	NM_212471.3(PRKAR1A):c.-47C>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1339610	NM_212471.3(PRKAR1A):c.-7+91G>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250816	NM_212471.3(PRKAR1A):c.-7+169G>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238750	NM_002734.5(PRKAR1A):c.-69A>G	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 386125	NM_002734.5(PRKAR1A):c.-49G>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 507734	NM_002734.5(PRKAR1A):c.-7+14G>C	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1276360	NM_002734.5(PRKAR1A):c.-6-711A>G	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195295	NM_002734.5(PRKAR1A):c.-6-312C>T	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 677026	NM_002734.5(PRKAR1A):c.-6-236C>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190891	NM_002734.5(PRKAR1A):c.-6-2A>G	PRKAR1A	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2576803	NM_002734.5(PRKAR1A):c.-6-1G>A	PRKAR1A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 12669	NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val)	PRKAR1A (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 424087	NM_002734.5(PRKAR1A):c.15dup (p.Thr6fs)	PRKAR1A (T6fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 486163	NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr)	PRKAR1A (A7T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 633376	NM_002734.5(PRKAR1A):c.27T>G (p.Ser9Arg)	PRKAR1A (S9R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 660751	NM_002734.5(PRKAR1A):c.35C>G (p.Ala12Gly)	PRKAR1A (A12G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1394679	NM_002734.5(PRKAR1A):c.38G>A (p.Arg13His)	PRKAR1A (R13H)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 279877	NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)	PRKAR1A (R16*)	Single nucleotide variant (nonsense)	Carney complex, type 1 +2 more	GPathogenic
Select item 1313482	NM_002734.5(PRKAR1A):c.62A>G (p.Tyr21Cys)	PRKAR1A (Y21C)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 419193	NM_002734.5(PRKAR1A):c.69_70dup (p.Lys24fs)	PRKAR1A (K24fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 41047	NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 324781	NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val)	PRKAR1A (I35V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 424266	NM_002734.5(PRKAR1A):c.125dup (p.Pro43fs)	PRKAR1A (P43fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 41382	NM_002734.5(PRKAR1A):c.124C>T (p.Arg42Ter)	PRKAR1A (R42*)	Single nucleotide variant (nonsense)	Carney complex, type 1 +1 more	GPathogenic
Select item 661298	NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln)	PRKAR1A (R42Q)	Single nucleotide variant (missense variant)	Carney complex, type 1 +3 more	GUncertain significance
Select item 819116	NM_002734.5(PRKAR1A):c.139A>G (p.Met47Val)	PRKAR1A (M47V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3365041	NM_002734.5(PRKAR1A):c.172G>A (p.Glu58Lys)	PRKAR1A (E58K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189811	NM_002734.5(PRKAR1A):c.177+3A>G	PRKAR1A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 677021	NM_002734.5(PRKAR1A):c.178-234A>G	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276061	NM_002734.5(PRKAR1A):c.178-116del	PRKAR1A	Deletion (intron variant)	not provided	GBenign
Select item 1948823	NM_002734.5(PRKAR1A):c.180G>A (p.Glu60=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 41044	NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Pigmented nodular adrenocortical disease, primary, 1 +6 more	GBenign/Likely benign
Select item 419198	NM_002734.5(PRKAR1A):c.213_247del (p.Gly72fs)	PRKAR1A (G72fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 12674	NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys)	PRKAR1A (R74C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 821396	NM_002734.5(PRKAR1A):c.250C>T (p.Pro84Ser)	PRKAR1A (P84S)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 640782	NM_002734.5(PRKAR1A):c.260C>T (p.Pro87Leu)	PRKAR1A (P87L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 523771	NM_002734.5(PRKAR1A):c.289C>T (p.Arg97Ter)	PRKAR1A (R97*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3343059	NM_002734.5(PRKAR1A):c.298A>C (p.Ile100Leu)	PRKAR1A (I100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1133819	NM_002734.5(PRKAR1A):c.300C>T (p.Ile100=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 41046	NM_002734.5(PRKAR1A):c.349-5dup	PRKAR1A	Duplication (intron variant)	Carney complex +6 more	GBenign
Select item 3338884	NM_002734.5(PRKAR1A):c.349G>T (p.Val117Phe)	PRKAR1A (V117F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 280301	NM_002734.5(PRKAR1A):c.360del (p.Asp121fs)	PRKAR1A (D121fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 280210	NM_002734.5(PRKAR1A):c.374dup (p.Met125fs)	PRKAR1A (M125fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 418988	NM_002734.5(PRKAR1A):c.385dup (p.Ala129fs)	PRKAR1A (A129fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 420084	NM_002734.5(PRKAR1A):c.407_408del (p.Val136fs)	PRKAR1A (V136fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 449086	NM_002734.5(PRKAR1A):c.440+5G>A	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 378429	NM_002734.5(PRKAR1A):c.440+15T>C	PRKAR1A	Single nucleotide variant (intron variant)	Acrodysostosis 1 with or without hormone resistance +4 more	GBenign
Select item 536906	NM_002734.5(PRKAR1A):c.441-5del	PRKAR1A	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 406173	NM_002734.5(PRKAR1A):c.441-5T>G	PRKAR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2849358	NM_002734.5(PRKAR1A):c.455C>T (p.Ala152Val)	PRKAR1A (A152V)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 469065	NM_002734.5(PRKAR1A):c.477C>T (p.Ile159=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 424516	NM_002734.5(PRKAR1A):c.488del (p.Thr163fs)	PRKAR1A (T163fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 413784	NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 12662	NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)	PRKAR1A (V164fs)	Microsatellite (frameshift variant)	Carney complex, type 1 +2 more	GPathogenic
Select item 1203139	NM_002734.5(PRKAR1A):c.499C>T (p.Gln167Ter)	PRKAR1A (Q167*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 469066	NM_002734.5(PRKAR1A):c.502+1G>A	PRKAR1A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1303110	NM_002734.5(PRKAR1A):c.502+3A>C	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 1198248	NM_002734.5(PRKAR1A):c.502+26T>C	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278054	NM_002734.5(PRKAR1A):c.502+117dup	PRKAR1A	Duplication (intron variant)	not provided	GBenign
Select item 677022	NM_002734.5(PRKAR1A):c.502+209C>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240728	NM_002734.5(PRKAR1A):c.503-246_503-245insGT	PRKAR1A	Insertion (intron variant)	not provided	GBenign
Select item 1562854	NM_002734.5(PRKAR1A):c.503-13dup	PRKAR1A	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 817260	NM_002734.5(PRKAR1A):c.523del (p.Tyr175fs)	PRKAR1A (Y175fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 135092	NM_002734.5(PRKAR1A):c.530T>C (p.Ile177Thr)	PRKAR1A (I177T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 647875	NM_002734.5(PRKAR1A):c.535C>G (p.Gln179Glu)	PRKAR1A (Q179E)	Single nucleotide variant (missense variant)	Carney complex, type 1 +3 more	GUncertain significance
Select item 379923	NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter)	PRKAR1A (Q179*)	Single nucleotide variant (nonsense)	Carney complex, type 1 +1 more	GPathogenic
Select item 429590	NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met)	PRKAR1A (T182M)	Single nucleotide variant (missense variant)	Carney complex, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 239385	NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1202709	NM_002734.5(PRKAR1A):c.549+233C>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220004	NM_002734.5(PRKAR1A):c.550-234T>C	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282453	NM_002734.5(PRKAR1A):c.550-18A>G	PRKAR1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3370896	NM_002734.5(PRKAR1A):c.550-3del	PRKAR1A	Deletion (intron variant)	not provided	GUncertain significance
Select item 508357	NM_002734.5(PRKAR1A):c.552C>G (p.Val184=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2578197	NM_002734.5(PRKAR1A):c.569G>A (p.Trp190Ter)	PRKAR1A (W190*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3222772	NM_002734.5(PRKAR1A):c.578G>A (p.Ser193Asn)	PRKAR1A (S193N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 164995	NM_002734.5(PRKAR1A):c.623del (p.Gly208fs)	PRKAR1A (G208fs)	Deletion (frameshift variant)	Carney complex, type 1 +2 more	GPathogenic
Select item 449447	NM_002734.5(PRKAR1A):c.672G>A (p.Trp224Ter)	PRKAR1A (W224*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 41391	NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter)	PRKAR1A (R228*)	Single nucleotide variant (nonsense)	Carney complex +2 more	GPathogenic
Select item 450406	NM_002734.5(PRKAR1A):c.695dup (p.Arg233fs)	PRKAR1A (R233fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1180395	NM_002734.5(PRKAR1A):c.708+134_708+135insCT	PRKAR1A	Insertion (intron variant)	not provided	GBenign
Select item 677027	NM_002734.5(PRKAR1A):c.708+142A>G	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677028	NM_002734.5(PRKAR1A):c.709-209G>A	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280060	NM_002734.5(PRKAR1A):c.738T>G (p.Tyr246Ter)	PRKAR1A (Y246*)	Single nucleotide variant (nonsense)	Carney complex, type 1 +1 more	GPathogenic
Select item 974959	NM_002734.5(PRKAR1A):c.756A>C (p.Lys252Asn)	PRKAR1A (K252N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1294138	NM_002734.5(PRKAR1A):c.770-256C>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186186	NM_002734.5(PRKAR1A):c.770-154A>G	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252556	NM_002734.5(PRKAR1A):c.770-24G>A	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +2 more	GBenign
Select item 1019850	NM_002734.5(PRKAR1A):c.790C>T (p.Arg264Cys)	PRKAR1A (R264C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1810073	NM_002734.5(PRKAR1A):c.797C>A (p.Thr266Lys)	PRKAR1A (T266K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426532	NM_002734.5(PRKAR1A):c.806A>G (p.Asp269Gly)	PRKAR1A (D269G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 574526	NM_002734.5(PRKAR1A):c.812dup (p.Leu271fs)	PRKAR1A (L271fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 12664	NM_002734.5(PRKAR1A):c.891+3A>G	PRKAR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 1185744	NM_002734.5(PRKAR1A):c.891+269C>T	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225994	NM_002734.5(PRKAR1A):c.891+332T>A	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223754	NM_002734.5(PRKAR1A):c.892-126A>C	PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268350	NM_002734.5(PRKAR1A):c.892-34G>T	PRKAR1A	Single nucleotide variant (intron variant)	Carney complex, type 1 +2 more	GBenign
Select item 1194985	NM_002734.5(PRKAR1A):c.892-2A>G	PRKAR1A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic

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