ClinVar for MedGen (Select 436979) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2964924	NM_003690.5(PRKRA):c.309A>C (p.Ala103=)	PRKRA	Single nucleotide variant (synonymous variant +1 more)	Dystonia 16	GLikely benign
Select item 2960413	NM_003690.5(PRKRA):c.65+12G>A	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 2960245	NM_003690.5(PRKRA):c.15G>A (p.Arg5=)	PRKRA	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonia 16	GLikely benign
Select item 2959175	NM_003690.5(PRKRA):c.180A>G (p.Gln60=)	PRKRA	Single nucleotide variant (synonymous variant +1 more)	Dystonia 16	GLikely benign
Select item 2917200	NM_003690.5(PRKRA):c.699C>T (p.Leu233=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GLikely benign
Select item 2903102	NM_003690.5(PRKRA):c.317+14C>T	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 2862035	NM_003690.5(PRKRA):c.435T>C (p.Tyr145=)	PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GLikely benign
Select item 2800856	NM_003690.5(PRKRA):c.203T>A (p.Phe68Tyr)	PRKRA (F43Y +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GBenign
Select item 2726448	NM_003690.5(PRKRA):c.514+13T>C	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 2725710	NM_003690.5(PRKRA):c.514+15C>A	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 2711595	NM_003690.5(PRKRA):c.235+20C>G	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 2627513	NM_003690.5(PRKRA):c.161G>T (p.Cys54Phe)	PRKRA (C29F +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 2627512	NM_003690.5(PRKRA):c.250AAG[3] (p.Lys85_Leu86insLys)	PRKRA	Microsatellite (inframe_insertion +1 more)	Dystonia 16	GUncertain significance
Select item 2435251	NM_003690.5(PRKRA):c.514+2T>A	PRKRA	Single nucleotide variant (splice donor variant)	Dystonia 16	GUncertain significance
Select item 2435250	NM_003690.5(PRKRA):c.923T>C (p.Ile308Thr)	CHROMR, PRKRA (I195T +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 2195664	NM_003690.5(PRKRA):c.25G>A (p.Glu9Lys)	PRKRA (E9K)	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonia 16	GUncertain significance
Select item 2170221	NM_003690.5(PRKRA):c.228C>G (p.Thr76=)	PRKRA	Single nucleotide variant (synonymous variant +1 more)	Dystonia 16	GLikely benign
Select item 2161057	NM_003690.5(PRKRA):c.318-20C>G	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GUncertain significance
Select item 2154973	NM_003690.5(PRKRA):c.610-18T>G	CHROMR, PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 2124843	NM_003690.5(PRKRA):c.861C>A (p.Ser287=)	PRKRA, CHROMR	Single nucleotide variant (synonymous variant)	Dystonia 16	GUncertain significance
Select item 2120675	NM_003690.5(PRKRA):c.578G>C (p.Ser193Thr)	PRKRA (S80T +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 2106187	NM_003690.5(PRKRA):c.784+15dup	CHROMR, PRKRA	Duplication (intron variant)	Dystonia 16	GBenign
Select item 2088719	NM_003690.5(PRKRA):c.71G>C (p.Gly24Ala)	PRKRA (G13A +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 2079815	NM_003690.5(PRKRA):c.286A>G (p.Ile96Val)	PRKRA (I85V +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 2079778	NM_003690.5(PRKRA):c.65+20G>A	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 2072310	NM_003690.5(PRKRA):c.785-14A>C	CHROMR, PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 2061249	NM_003690.5(PRKRA):c.581A>G (p.Asn194Ser)	PRKRA (N194S +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 2060238	NM_003690.5(PRKRA):c.65+18C>T	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 2011802	NM_003690.5(PRKRA):c.535C>T (p.Gln179Ter)	PRKRA (Q66* +3 more)	Single nucleotide variant (nonsense)	Dystonia 16	GUncertain significance
Select item 1996025	NM_003690.5(PRKRA):c.854A>G (p.His285Arg)	CHROMR, PRKRA (H260R +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 1992871	NM_003690.5(PRKRA):c.270A>C (p.Arg90Ser)	PRKRA (R90S +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 1990743	NM_003690.5(PRKRA):c.616G>A (p.Val206Ile)	PRKRA, CHROMR (V181I +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 1959776	NM_003690.5(PRKRA):c.397-19C>T	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 1686097	NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)	CHROMR, PRKRA (C100F +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GPathogenic/Likely pathogenic
Select item 1670818	NM_003690.5(PRKRA):c.65+15A>C	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 1610154	NM_003690.5(PRKRA):c.784+14T>A	CHROMR, PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 1575994	NM_003690.5(PRKRA):c.66-10G>T	PRKRA (G8V)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GLikely benign
Select item 1574809	NM_003690.5(PRKRA):c.784+15del	CHROMR, PRKRA	Deletion (intron variant)	Dystonia 16	GBenign/Likely benign
Select item 1569007	NM_003690.5(PRKRA):c.65+16G>A	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GBenign
Select item 1557317	NM_003690.5(PRKRA):c.235+11A>G	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 1554500	NM_003690.5(PRKRA):c.840C>T (p.Pro280=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GLikely benign
Select item 1521362	NM_003690.5(PRKRA):c.397-6T>G	PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GUncertain significance
Select item 1512326	NM_003690.5(PRKRA):c.680A>G (p.Asn227Ser)	CHROMR, PRKRA (N202S +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 1511108	NM_003690.5(PRKRA):c.109C>G (p.Gln37Glu)	PRKRA (Q26E +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 1492133	NM_003690.5(PRKRA):c.308C>T (p.Ala103Val)	PRKRA (A103V +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 1471347	NM_003690.5(PRKRA):c.500C>T (p.Ser167Leu)	PRKRA (S142L +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 1436220	NM_003690.5(PRKRA):c.902A>G (p.Asn301Ser)	CHROMR, PRKRA (N290S +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 1432798	NM_003690.5(PRKRA):c.230G>C (p.Cys77Ser)	PRKRA (C77S +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 1366434	NM_003690.5(PRKRA):c.40G>A (p.Glu14Lys)	PRKRA (E14K)	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonia 16	GUncertain significance
Select item 1365242	NM_003690.5(PRKRA):c.795C>A (p.Ser265Arg)	PRKRA, CHROMR (S265R +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 1356644	NM_003690.5(PRKRA):c.77T>A (p.Met26Lys)	PRKRA (M26K +2 more)	Single nucleotide variant (missense variant +2 more)	Dystonia 16	GUncertain significance
Select item 1219736	NM_003690.5(PRKRA):c.609+20A>G	PRKRA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1151603	NM_003690.5(PRKRA):c.792G>C (p.Leu264=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GLikely benign
Select item 1141586	NM_003690.5(PRKRA):c.84A>G (p.Thr28=)	PRKRA	Single nucleotide variant (synonymous variant +1 more)	Dystonia 16	GLikely benign
Select item 1137966	NM_003690.5(PRKRA):c.285C>A (p.Ala95=)	PRKRA	Single nucleotide variant (synonymous variant +1 more)	Dystonia 16	GLikely benign
Select item 1128463	NM_003690.5(PRKRA):c.348C>T (p.Asp116=)	PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GLikely benign
Select item 1098199	NM_003690.5(PRKRA):c.891T>C (p.Asp297=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GLikely benign
Select item 1049461	NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA	CHROMR, PRKRA	Insertion (splice acceptor variant)	Dystonia 16	GLikely pathogenic
Select item 1046159	NM_003690.5(PRKRA):c.85G>A (p.Ala29Thr)	PRKRA (A29T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1008812	NM_003690.5(PRKRA):c.1A>G (p.Met1Val)	PRKRA (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Dystonia 16	GUncertain significance
Select item 1004130	NM_003690.5(PRKRA):c.319T>C (p.Phe107Leu)	PRKRA (F107L +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 960310	NM_003690.5(PRKRA):c.800A>G (p.Asn267Ser)	CHROMR, PRKRA (N242S +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 931221	NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT	PRKRA	Insertion (inframe_insertion +1 more)	Dystonia 16	GBenign
Select item 894469	NM_003690.5(PRKRA):c.-141C>A	PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 894468	NM_003690.5(PRKRA):c.-125G>A	PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 894434	NM_003690.5(PRKRA):c.*31G>A	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16	GLikely benign
Select item 894433	NM_003690.5(PRKRA):c.*79G>A	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 894078	NM_003690.5(PRKRA):c.-124C>A	PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 894077	NM_003690.5(PRKRA):c.-64C>G	PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 894076	NM_003690.5(PRKRA):c.-14C>T	PRKRA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894034	NM_003690.5(PRKRA):c.*200G>A	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16 +1 more	GBenign/Likely benign
Select item 894033	NM_003690.5(PRKRA):c.*553A>G	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 894032	NM_003690.5(PRKRA):c.*576G>A	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 894031	NM_003690.5(PRKRA):c.*655T>C	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 893227	NM_003690.5(PRKRA):c.54T>C (p.Ser18=)	PRKRA	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonia 16	GUncertain significance
Select item 893226	NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr)	PRKRA (I16T +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 893005	NM_003690.5(PRKRA):c.654G>A (p.Leu218=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GConflicting classifications of pathogenicity
Select item 893004	NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr)	CHROMR, PRKRA (A266T +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GConflicting classifications of pathogenicity
Select item 836776	NM_003690.5(PRKRA):c.233C>A (p.Thr78Lys)	PRKRA (T53K +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 704153	NM_003690.5(PRKRA):c.261G>A (p.Ala87=)	PRKRA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 689778	NM_003690.5(PRKRA):c.637T>C (p.Cys213Arg)	CHROMR, PRKRA (C100R +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 654323	NM_003690.5(PRKRA):c.32C>G (p.Pro11Arg)	PRKRA (P11R)	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonia 16	GUncertain significance
Select item 653965	NM_003690.5(PRKRA):c.335C>G (p.Pro112Arg)	PRKRA (P112R +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 583796	NC_000002.11:g.(?_179296804)_(179456251_?)dup	LOC126806421, LOC126806422 +17 more	Duplication	Dystonia 16	GUncertain significance
Select item 537334	NM_003690.5(PRKRA):c.377A>G (p.Asn126Ser)	PRKRA (N126S +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 537333	NM_003690.5(PRKRA):c.611C>G (p.Thr204Arg)	CHROMR, PRKRA (T204R +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 537332	NM_003690.5(PRKRA):c.851G>T (p.Cys284Phe)	CHROMR, PRKRA (C284F +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 537331	NM_003690.5(PRKRA):c.766A>G (p.Ile256Val)	CHROMR, PRKRA (I256V +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 537330	NM_003690.5(PRKRA):c.131T>C (p.Met44Thr)	PRKRA (M44T +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonia 16	GUncertain significance
Select item 522281	NM_001139517.1(PRKRA):c.27_28ins57 (p.?)	PRKRA	Insertion	Dystonia 16	GBenign
Select item 518334	NM_003690.5(PRKRA):c.861C>T (p.Ser287=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 469612	NM_003690.5(PRKRA):c.795C>T (p.Ser265=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 469611	NM_003690.5(PRKRA):c.256C>G (p.Leu86Val)	PRKRA (L86V +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16	GUncertain significance
Select item 425237	NM_003690.5(PRKRA):c.784+6A>T	CHROMR, PRKRA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 332642	NM_003690.4(PRKRA):c.-149T>C	PRKRA	Single nucleotide variant	Dystonic disorder +1 more	GUncertain significance
Select item 332641	NM_003690.5(PRKRA):c.-133C>G	PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 332640	NM_003690.5(PRKRA):c.-117C>T	PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 332639	NM_003690.5(PRKRA):c.-104G>A	PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 332638	NM_003690.5(PRKRA):c.-65C>G	PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 332637	NM_003690.5(PRKRA):c.-24G>A	PJVK, PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonic disorder +3 more	GBenign/Likely benign

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