C3276228[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 643895	NM_002734.5(PRKAR1A):c.13A>C (p.Ser5Arg)	PRKAR1A (S5R)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +2 more	GUncertain significance
Select item 892466	NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys)	PRKAR1A (E10K)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 952943	NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys)	PRKAR1A (R13C)	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 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 661103	NM_002734.5(PRKAR1A):c.73C>T (p.His25Tyr)	PRKAR1A (H25Y)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 469080	NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu)	PRKAR1A (K32E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 581188	NM_002734.5(PRKAR1A):c.101C>G (p.Ser34Cys)	PRKAR1A (S34C)	Single nucleotide variant (missense variant)	Carney complex, type 1 +3 more	GUncertain significance
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 820646	NM_002734.5(PRKAR1A):c.206A>G (p.Gln69Arg)	PRKAR1A (Q69R)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance +2 more	GUncertain significance
Select item 3240208	NM_002734.5(PRKAR1A):c.209A>G (p.Lys70Arg)	PRKAR1A (K70R)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance	GUncertain significance
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 644850	NM_002734.5(PRKAR1A):c.320A>C (p.Glu107Ala)	PRKAR1A (E107A)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 3240207	NM_002734.5(PRKAR1A):c.348+3_348+6del	PRKAR1A	Deletion (splice donor variant)	Acrodysostosis 1 with or without hormone resistance	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 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 3240206	NM_002734.5(PRKAR1A):c.472T>A (p.Phe158Ile)	PRKAR1A (F158I)	Single nucleotide variant (missense variant)	Acrodysostosis 1 with or without hormone resistance	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 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 2678066	NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr)	PRKAR1A (N188Y)	Single nucleotide variant (missense variant)	Carney complex, type 1 +1 more	GUncertain significance
Select item 536888	NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr)	PRKAR1A (A191T)	Single nucleotide variant (missense variant)	Carney complex, type 1 +2 more	GUncertain significance
Select item 469069	NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn)	PRKAR1A (S199N)	Single nucleotide variant (missense variant)	Carney complex, type 1 +4 more	GConflicting classifications of pathogenicity
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 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 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 1762614	NM_002734.5(PRKAR1A):c.824A>G (p.Gln275Arg)	PRKAR1A (Q275R)	Single nucleotide variant (missense variant)	Carney complex, type 1 +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 536890	NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His)	PRKAR1A (R342H)	Single nucleotide variant (missense variant +1 more)	Pigmented nodular adrenocortical disease, primary, 1 +5 more	GConflicting classifications of pathogenicity

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Items: 28