"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRKAR1A"[ - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2173474	NM_001267727.2(ARSG):c.1440C>G (p.Pro480=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 731552	NM_001267727.2(ARSG):c.1478T>C (p.Ile493Thr)	ARSG, PRKAR1A (I492T +1 more)	Single nucleotide variant (missense variant +1 more)	ARSG-related disorder +1 more	GLikely benign
Select item 3048656	NM_001267727.2(ARSG):c.*10T>C	ARSG, PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	ARSG-related disorder	GLikely benign
Select item 3047301	NM_017983.7(WIPI1):c.1152C>T (p.Thr384=)	ARSG, PRKAR1A +1 more	Single nucleotide variant (synonymous variant +2 more)	WIPI1-related disorder	GLikely benign
Select item 3045393	NM_017983.7(WIPI1):c.687G>A (p.Met229Ile)	ARSG, PRKAR1A +1 more (M147I +1 more)	Single nucleotide variant (missense variant +2 more)	WIPI1-related disorder	GLikely benign
Select item 3052144	NM_002734.5(PRKAR1A):c.-88G>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	PRKAR1A-related disorder	GLikely benign
Select item 3029598	NM_002734.5(PRKAR1A):c.-87G>A	PRKAR1A	Single nucleotide variant (5 prime UTR variant +1 more)	PRKAR1A-related disorder	GLikely 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 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 469058	NM_002734.5(PRKAR1A):c.18C>T (p.Thr6=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +2 more	GLikely benign
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 469070	NM_002734.5(PRKAR1A):c.60C>G (p.Leu20=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 469072	NM_002734.5(PRKAR1A):c.63C>T (p.Tyr21=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 41047	NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 12674	NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys)	PRKAR1A (R74C)	Single nucleotide variant (missense variant)	PRKAR1A-related disorder +4 more	GUncertain significance
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 700218	NM_002734.5(PRKAR1A):c.237G>A (p.Glu79=)	PRKAR1A	Single nucleotide variant (synonymous variant)	PRKAR1A-related disorder +2 more	GLikely benign
Select item 41046	NM_002734.5(PRKAR1A):c.349-5dup	PRKAR1A	Duplication (intron variant)	not provided +6 more	GBenign
Select item 709731	NM_002734.5(PRKAR1A):c.378C>T (p.Ala126=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 413784	NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 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 239387	NM_002734.5(PRKAR1A):c.675C>A (p.Gly225=)	PRKAR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
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 704730	NM_002734.5(PRKAR1A):c.769+10A>T	PRKAR1A	Single nucleotide variant (intron variant)	PRKAR1A-related disorder +1 more	GLikely benign
Select item 469079	NM_002734.5(PRKAR1A):c.894G>C (p.Gly298=)	PRKAR1A	Single nucleotide variant (synonymous variant)	Carney complex, type 1 +2 more	GLikely benign
Select item 239381	NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=)	PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	Carney complex, type 1 +4 more	GBenign/Likely benign
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 260830	NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser)	FAM20A, PRKAR1A (L530S +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GBenign
Select item 737692	NM_017565.4(FAM20A):c.1314C>T (p.His438=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GBenign/Likely benign
Select item 2634747	NM_017565.4(FAM20A):c.1109+6T>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	FAM20A-related disorder	GUncertain significance
Select item 260833	NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys)	FAM20A, PRKAR1A (N332K +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GBenign
Select item 1549902	NM_017565.4(FAM20A):c.984T>C (p.Ala328=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	FAM20A-related disorder +2 more	GLikely benign
Select item 731711	NM_017565.4(FAM20A):c.792C>T (p.Ile264=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	FAM20A-related disorder +2 more	GLikely benign

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Items: 33