ClinVar for Gene (Select 5575) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3227046	NM_017802.4(DNAAF5):c.406G>C (p.Glu136Gln)	DNAAF5, PRKAR1B (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 (missense 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 +1 more	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 (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2705591	NM_017802.4(DNAAF5):c.522C>T (p.Ser174=)	DNAAF5, LOC129997731 +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
Select item 2473336	NM_001164760.2(PRKAR1B):c.895A>G (p.Thr299Ala)	PRKAR1B (T299A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456597	NM_001164760.2(PRKAR1B):c.215A>G (p.Asn72Ser)	PRKAR1B (N72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448396	NM_017802.4(DNAAF5):c.394C>T (p.Arg132Cys)	DNAAF5, PRKAR1B (R132C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2448394	NM_017802.4(DNAAF5):c.518G>A (p.Cys173Tyr)	DNAAF5, LOC129997731 +1 more (C173Y)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2444586	NM_001164760.2(PRKAR1B):c.917G>A (p.Arg306Gln)	PRKAR1B (R306Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2430509	NM_001164760.2(PRKAR1B):c.522C>A (p.Phe174Leu)	PRKAR1B, PRKAR1B-AS1 (F174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426527	NC_000007.13:g.(?_193200)_(1498962_?)del	ADAP1, C7orf50 +13 more	Deletion	not provided	GPathogenic
Select item 2426357	NC_000007.13:g.(?_766358)_(781122_?)dup	DNAAF5, PRKAR1B	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2426356	NC_000007.13:g.(?_766358)_(769504_?)del	DNAAF5, PRKAR1B	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 2426354	NC_000007.13:g.(?_766358)_(825290_?)del	DNAAF5, PRKAR1B	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 2414686	NM_017802.4(DNAAF5):c.11T>C (p.Leu4Pro)	DNAAF5, PRKAR1B (L4P)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2409689	NM_001164760.2(PRKAR1B):c.1015G>A (p.Val339Ile)	PRKAR1B (V339I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408172	NM_001164760.2(PRKAR1B):c.251C>T (p.Pro84Leu)	PRKAR1B (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398733	NM_001164760.2(PRKAR1B):c.914G>A (p.Arg305His)	PRKAR1B (R305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340766	NM_017802.4(DNAAF5):c.172G>A (p.Glu58Lys)	DNAAF5, LOC129997730 +1 more (E58K)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2339240	NM_017802.4(DNAAF5):c.230T>C (p.Leu77Pro)	DNAAF5, LOC129997730 +1 more (L77P)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2338993	NM_001164760.2(PRKAR1B):c.295G>A (p.Gly99Ser)	PRKAR1B (G99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335491	NM_017802.4(DNAAF5):c.160C>G (p.Arg54Gly)	DNAAF5, LOC129997730 +1 more (R54G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2334320	NM_001164760.2(PRKAR1B):c.790C>T (p.Arg264Cys)	PRKAR1B (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314957	NM_017802.4(DNAAF5):c.214C>T (p.Pro72Ser)	DNAAF5, LOC129997730 +1 more (P72S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2312310	NM_001164760.2(PRKAR1B):c.478G>A (p.Ala160Thr)	PRKAR1B, PRKAR1B-AS1 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277923	NM_001164760.2(PRKAR1B):c.556G>T (p.Val186Leu)	PRKAR1B (V186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277864	NM_001164760.2(PRKAR1B):c.808G>A (p.Ala270Thr)	PRKAR1B (A270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2194386	NM_017802.4(DNAAF5):c.351G>A (p.Leu117=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2184523	NM_017802.4(DNAAF5):c.388C>T (p.Pro130Ser)	PRKAR1B, DNAAF5 (P130S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2156761	NM_017802.4(DNAAF5):c.575C>G (p.Ala192Gly)	DNAAF5, PRKAR1B (A192G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2153301	NM_017802.4(DNAAF5):c.169C>T (p.Leu57=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2148768	NM_017802.4(DNAAF5):c.595+8C>T	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2141721	NM_017802.4(DNAAF5):c.141G>T (p.Arg47=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2141099	NM_017802.4(DNAAF5):c.528C>G (p.Leu176=)	DNAAF5, LOC129997731 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2099478	NM_017802.4(DNAAF5):c.328C>T (p.Pro110Ser)	DNAAF5, PRKAR1B (P110S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2099042	NM_017802.4(DNAAF5):c.517_521dup (p.Leu175fs)	DNAAF5, LOC129997731 +1 more (L175fs)	Duplication (frameshift variant +3 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2078615	NM_017802.4(DNAAF5):c.528C>T (p.Leu176=)	DNAAF5, LOC129997731 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2070567	NM_017802.4(DNAAF5):c.150G>T (p.Leu50Phe)	DNAAF5, LOC129997730 +1 more (L50F)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2068024	NM_001164760.2(PRKAR1B):c.1004G>A (p.Arg335Gln)	PRKAR1B (R335Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008045	NM_017802.4(DNAAF5):c.526C>T (p.Leu176Phe)	DNAAF5, LOC129997731 +1 more (L176F)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2006685	NM_017802.4(DNAAF5):c.86G>A (p.Arg29His)	DNAAF5, LOC129997730 +1 more (R29H)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1996032	NM_017802.4(DNAAF5):c.556A>G (p.Ser186Gly)	PRKAR1B, DNAAF5 (S186G)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1967020	NM_017802.4(DNAAF5):c.177G>A (p.Glu59=)	PRKAR1B, DNAAF5 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1958066	NM_017802.4(DNAAF5):c.218G>A (p.Trp73Ter)	DNAAF5, LOC129997730 +1 more (W73*)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1946703	NM_017802.4(DNAAF5):c.69G>A (p.Glu23=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign

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