ClinVar for Gene (Select 5575) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3425090	NM_001164760.2(PRKAR1B):c.143A>G (p.Lys48Arg)	PRKAR1B (K48R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3425088	NM_001164760.2(PRKAR1B):c.221A>G (p.Gln74Arg)	PRKAR1B (Q74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3425087	NM_001164760.2(PRKAR1B):c.899C>T (p.Ala300Val)	PRKAR1B (A300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3383878	NM_001164760.2(PRKAR1B):c.703C>A (p.Leu235Ile)	PRKAR1B (L235I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383740	NM_001164760.2(PRKAR1B):c.84G>C (p.Gln28His)	PRKAR1B (Q28H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383591	NM_001164760.2(PRKAR1B):c.204_205del (p.Gln69fs)	PRKAR1B (Q69fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3379732	NM_001164760.2(PRKAR1B):c.233A>G (p.His78Arg)	PRKAR1B (H78R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379731	NM_001164760.2(PRKAR1B):c.1018G>A (p.Val340Met)	PRKAR1B (V340M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375880	NM_017802.4(DNAAF5):c.-1G>A	DNAAF5, PRKAR1B	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3372938	NM_001164760.2(PRKAR1B):c.16G>A (p.Ala6Thr)	PRKAR1B (A6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372525	NM_001164760.2(PRKAR1B):c.308A>T (p.Glu103Val)	PRKAR1B (E103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370300	NM_001164760.2(PRKAR1B):c.773C>T (p.Ser258Phe)	PRKAR1B (S258F)	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 3369537	NM_001164760.2(PRKAR1B):c.478G>C (p.Ala160Pro)	PRKAR1B, PRKAR1B-AS1 (A160P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369078	NM_001164760.2(PRKAR1B):c.967T>G (p.Tyr323Asp)	PRKAR1B (Y323D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367147	NM_001164760.2(PRKAR1B):c.1069C>T (p.Arg357Cys)	PRKAR1B (R357C)	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 3365666	NM_001164760.2(PRKAR1B):c.520T>G (p.Phe174Val)	PRKAR1B, PRKAR1B-AS1 (F174V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365386	NM_001164760.2(PRKAR1B):c.611C>T (p.Ala204Val)	PRKAR1B (A204V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363905	NM_001164760.2(PRKAR1B):c.154G>C (p.Glu52Gln)	PRKAR1B (E52Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363789	NM_001164760.2(PRKAR1B):c.475A>G (p.Ile159Val)	PRKAR1B, PRKAR1B-AS1 (I159V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363399	NM_001164760.2(PRKAR1B):c.511G>A (p.Gly171Arg)	PRKAR1B, PRKAR1B-AS1 (G171R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363314	NM_001164760.2(PRKAR1B):c.549+5G>T	PRKAR1B, PRKAR1B-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359786	NM_001164760.2(PRKAR1B):c.1080_1092del (p.Pro361fs)	PRKAR1B (P361fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3359268	NM_017802.4(DNAAF5):c.553_572del (p.Glu185fs)	DNAAF5, LOC129997731 +1 more (E185fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3349891	NM_001164760.2(PRKAR1B):c.926A>C (p.Asn309Thr)	PRKAR1B (N309T)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GLikely pathogenic
Select item 3349888	NM_001164760.2(PRKAR1B):c.735G>A (p.Met245Ile)	PRKAR1B (M245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344452	NM_001164760.2(PRKAR1B):c.904G>A (p.Val302Met)	PRKAR1B (V302M)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GUncertain significance
Select item 3343467	NM_001164760.2(PRKAR1B):c.470C>T (p.Thr157Ile)	PRKAR1B, PRKAR1B-AS1 (T157I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338609	NM_017802.4(DNAAF5):c.250T>C (p.Cys84Arg)	LOC129997730, DNAAF5 +1 more (C84R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3335998	NM_001164760.2(PRKAR1B):c.549+3647G>A	PRKAR1B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3309978	NM_001164760.2(PRKAR1B):c.259C>A (p.Pro87Thr)	PRKAR1B (P87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309977	NM_001164760.2(PRKAR1B):c.202C>T (p.Arg68Trp)	PRKAR1B (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309976	NM_001164760.2(PRKAR1B):c.203G>A (p.Arg68Gln)	PRKAR1B (R68Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309974	NM_001164760.2(PRKAR1B):c.284G>A (p.Arg95His)	PRKAR1B (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309973	NM_001164760.2(PRKAR1B):c.791G>A (p.Arg264His)	PRKAR1B (R264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309972	NM_001164760.2(PRKAR1B):c.248C>T (p.Ser83Leu)	PRKAR1B (S83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272535	NM_017802.4(DNAAF5):c.482C>T (p.Ala161Val)	DNAAF5, PRKAR1B (A161V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272534	NM_017802.4(DNAAF5):c.20C>T (p.Ala7Val)	DNAAF5, PRKAR1B (A7V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272532	NM_017802.4(DNAAF5):c.223C>T (p.Arg75Cys)	DNAAF5, LOC129997730 +1 more (R75C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272531	NM_017802.4(DNAAF5):c.8C>T (p.Ala3Val)	DNAAF5, PRKAR1B (A3V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3245722	NC_000007.13:g.(?_288261)_(912968_?)del	PDGFA, PRKAR1B +3 more	Deletion	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3239429	NM_001164760.2(PRKAR1B):c.728G>A (p.Arg243His)	PRKAR1B (R243H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3227046	NM_017802.4(DNAAF5):c.406G>C (p.Glu136Gln)	PRKAR1B, DNAAF5 (E136Q)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3218745	NM_001164760.2(PRKAR1B):c.844A>G (p.Ile282Val)	PRKAR1B (I282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218743	NM_001164760.2(PRKAR1B):c.259C>G (p.Pro87Ala)	PRKAR1B (P87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218742	NM_001164760.2(PRKAR1B):c.162C>G (p.Phe54Leu)	PRKAR1B (F54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218741	NM_001164760.2(PRKAR1B):c.1129A>G (p.Ile377Val)	PRKAR1B (I377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218740	NM_001164760.2(PRKAR1B):c.101G>T (p.Cys34Phe)	PRKAR1B (C34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083364	NM_017802.4(DNAAF5):c.65C>T (p.Ala22Val)	DNAAF5, LOC129997730 +1 more (A22V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083363	NM_017802.4(DNAAF5):c.431C>A (p.Ala144Glu)	DNAAF5, PRKAR1B (A144E)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083360	NM_017802.4(DNAAF5):c.19G>A (p.Ala7Thr)	DNAAF5, PRKAR1B (A7T)	Single nucleotide variant (non-coding transcript variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083358	NM_017802.4(DNAAF5):c.191C>G (p.Ala64Gly)	DNAAF5, LOC129997730 +1 more (A64G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3067879	NM_001164760.2(PRKAR1B):c.913C>T (p.Arg305Cys)	PRKAR1B (R305C)	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 3067402	NM_001164760.2(PRKAR1B):c.186C>T (p.Asn62=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066190	NC_000007.14:g.584568_584569del	PRKAR1B	Deletion	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	ADAP1, C7orf50 +19 more	Copy number loss	not specified	GPathogenic
Select item 3057463	NM_001164760.2(PRKAR1B):c.998G>A (p.Arg333Gln)	PRKAR1B (R333Q)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GLikely benign
Select item 3050103	NM_001164760.2(PRKAR1B):c.528C>T (p.Val176=)	PRKAR1B, PRKAR1B-AS1	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder	GLikely benign
Select item 3003647	NM_017802.4(DNAAF5):c.24G>A (p.Glu8=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2996884	NM_017802.4(DNAAF5):c.595+15C>T	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2964321	NM_017802.4(DNAAF5):c.309C>A (p.Gly103=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2917257	NM_017802.4(DNAAF5):c.410C>T (p.Ala137Val)	DNAAF5, PRKAR1B (A137V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2916345	NM_017802.4(DNAAF5):c.349_370del (p.Leu117fs)	DNAAF5, PRKAR1B (L117fs)	Deletion (frameshift variant +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2915117	NM_017802.4(DNAAF5):c.120C>G (p.Ala40=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2880120	NM_017802.4(DNAAF5):c.130C>T (p.Pro44Ser)	DNAAF5, LOC129997730 +1 more (P44S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2827907	NM_017802.4(DNAAF5):c.339C>T (p.Ala113=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2808707	NM_017802.4(DNAAF5):c.99C>T (p.Arg33=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2807534	NM_017802.4(DNAAF5):c.432_455dup (p.Ala152_Val153insLeuValGlnLeuLeuGlyLeuAla)	DNAAF5, PRKAR1B	Duplication (inframe_insertion +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2801871	NM_017802.4(DNAAF5):c.322_349dup (p.Leu117fs)	DNAAF5, PRKAR1B (L117fs)	Duplication (frameshift variant +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2765509	NM_017802.4(DNAAF5):c.595+14G>A	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2755070	NM_017802.4(DNAAF5):c.114G>T (p.Leu38=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2742432	NM_017802.4(DNAAF5):c.387G>A (p.Val129=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2732840	NM_017802.4(DNAAF5):c.281C>G (p.Ala94Gly)	DNAAF5, PRKAR1B (A94G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2730196	NM_017802.4(DNAAF5):c.210G>A (p.Gln70=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2728897	NM_017802.4(DNAAF5):c.81G>A (p.Leu27=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2719991	NM_017802.4(DNAAF5):c.465G>A (p.Leu155=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2718487	NM_017802.4(DNAAF5):c.333C>G (p.Arg111=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2716147	NM_017802.4(DNAAF5):c.51G>A (p.Glu17=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2716069	NM_017802.4(DNAAF5):c.595+13G>A	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2715007	NM_017802.4(DNAAF5):c.105G>A (p.Leu35=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (intron variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2705591	NM_017802.4(DNAAF5):c.522C>T (p.Ser174=)	LOC129997731, PRKAR1B +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2699549	NM_017802.4(DNAAF5):c.357C>T (p.Pro119=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2684472	GRCh37/hg19 7p22.3(chr7:704573-941737)x3	PRKAR1B, SUN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684471	GRCh37/hg19 7p22.3(chr7:107550-839715)x3	DNAAF5, FAM20C +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2630642	NM_001164760.2(PRKAR1B):c.943G>A (p.Val315Met)	PRKAR1B (V315M)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GUncertain significance
Select item 2625515	NM_017802.4(DNAAF5):c.147C>T (p.Ala49=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2594322	NM_001164760.2(PRKAR1B):c.937G>A (p.Val313Met)	PRKAR1B (V313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572367	NM_001164760.2(PRKAR1B):c.522C>G (p.Phe174Leu)	PRKAR1B, PRKAR1B-AS1 (F174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2563336	NM_017802.4(DNAAF5):c.543C>T (p.Ala181=)	DNAAF5, LOC129997731 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2563334	NM_017802.4(DNAAF5):c.133G>A (p.Gly45Ser)	DNAAF5, LOC129997730 +1 more (G45S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2563333	NM_017802.4(DNAAF5):c.142C>T (p.Arg48Cys)	DNAAF5, LOC129997730 +1 more (R48C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2543831	NM_017802.4(DNAAF5):c.287C>T (p.Ala96Val)	DNAAF5, PRKAR1B (A96V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2525408	NM_017802.4(DNAAF5):c.466T>G (p.Cys156Gly)	DNAAF5, PRKAR1B (C156G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2521458	NM_001164760.2(PRKAR1B):c.76G>A (p.Gly26Arg)	PRKAR1B (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508601	NM_001164760.2(PRKAR1B):c.667C>G (p.Leu223Val)	PRKAR1B (L223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507154	NM_001164760.2(PRKAR1B):c.181G>A (p.Glu61Lys)	PRKAR1B (E61K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501851	NM_001164760.2(PRKAR1B):c.974-5C>G	PRKAR1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2497761	NM_001164760.2(PRKAR1B):c.622G>A (p.Gly208Ser)	PRKAR1B (G208S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495073	NM_017802.4(DNAAF5):c.520T>G (p.Ser174Ala)	DNAAF5, LOC129997731 +1 more (S174A)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance

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