ClinVar for Gene (Select 8575) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062660	GRCh37/hg19 2q31.2(chr2:179257725-180232128)x3	CCDC141, FKBP7 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3058428	NM_003690.5(PRKRA):c.785-10G>A	CHROMR, PRKRA	Single nucleotide variant (intron variant)	PRKRA-related condition	GLikely benign
Select item 3056049	NM_003690.5(PRKRA):c.397-10G>T	PRKRA	Single nucleotide variant (intron variant)	PRKRA-related condition	GLikely benign
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 2540487	NM_003690.5(PRKRA):c.53G>C (p.Ser18Thr)	PRKRA (S18T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500571	NM_003690.5(PRKRA):c.817C>T (p.Leu273Phe)	CHROMR, PRKRA (L160F +3 more)	Single nucleotide variant (missense variant)	not provided	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 2425519	NC_000002.11:g.(?_178095513)_(179914668_?)dup	AGPS, CCDC141 +11 more	Duplication	not provided	GUncertain significance
Select item 2424718	NC_000002.11:g.(?_178095513)_(179914668_?)del	AGPS, CCDC141 +11 more	Deletion	not provided	GUncertain significance
Select item 2424053	NC_000002.11:g.(?_179296824)_(179914668_?)dup	CCDC141, FKBP7 +4 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2424039	NC_000002.11:g.(?_179296824)_(179518254_?)del	FKBP7, PJVK +3 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2230879	NM_003690.5(PRKRA):c.38T>C (p.Leu13Pro)	PRKRA (L13P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
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 1685038	NM_003690.5(PRKRA):c.66-4_66-3insGGACCTT	PRKRA (C10fs)	Insertion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1675813	NM_003690.5(PRKRA):c.60C>T (p.Thr20=)	PRKRA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
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 1290370	NM_003690.5(PRKRA):c.397-187T>C	PRKRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280625	NM_003690.5(PRKRA):c.515-184del	PRKRA	Deletion (intron variant)	not provided	GBenign
Select item 1267758	NC_000002.12:g.178451344C>T	PRKRA	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1267642	NM_003690.5(PRKRA):c.236-300A>G	PRKRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253404	NM_003690.5(PRKRA):c.515-200_515-199dup	PRKRA	Duplication (intron variant)	not provided	GBenign
Select item 1247302	NM_003690.5(PRKRA):c.236-130_236-128dup	PRKRA	Duplication (intron variant)	not provided	GBenign
Select item 1231700	NM_003690.5(PRKRA):c.515-200dup	PRKRA	Duplication (intron variant)	not provided	GBenign
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 1217723	NM_003690.5(PRKRA):c.515-200_515-198dup	PRKRA	Duplication (intron variant)	not provided	GLikely benign
Select item 1217703	NM_003690.5(PRKRA):c.317+225dup	PRKRA	Duplication (intron variant)	not provided	GLikely benign
Select item 1217427	NM_003690.5(PRKRA):c.514+303A>T	PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216295	NM_003690.5(PRKRA):c.396+183T>C	PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214439	NM_003690.5(PRKRA):c.66-151G>A	PRKRA	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1214112	NM_003690.5(PRKRA):c.784+241T>A	CHROMR, PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214085	NM_003690.5(PRKRA):c.610-291C>T	CHROMR, PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205852	NM_003690.5(PRKRA):c.66-6_66-5insCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAG	PRKRA	Insertion (intron variant +1 more)	not provided	GLikely benign
Select item 1198681	NC_000002.12:g.178451176G>C	PRKRA	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1198628	NM_003690.5(PRKRA):c.784+237A>G	CHROMR, PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196527	NM_003690.5(PRKRA):c.397-165C>T	PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195438	NM_003690.5(PRKRA):c.515-206C>T	PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193040	NM_003690.5(PRKRA):c.514+224_514+227del	PRKRA	Deletion (intron variant)	not provided	GLikely benign
Select item 1192090	NM_003690.5(PRKRA):c.317+237del	PRKRA	Deletion (intron variant)	not provided	GLikely benign
Select item 1191799	NM_003690.5(PRKRA):c.317+213T>G	PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186930	NM_003690.5(PRKRA):c.65+277C>T	PRKRA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1175584	NM_003690.5(PRKRA):c.65+192G>C	PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174960	NM_003690.5(PRKRA):c.66-6_66-5insCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAG	PRKRA (C10fs)	Insertion (frameshift variant +1 more)	not provided	GLikely benign
Select item 1174362	NM_003690.5(PRKRA):c.65+249A>C	PRKRA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely 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 1050516	NM_003690.5(PRKRA):c.515-2_515-1insCCTGCTCATAAGAGAGAATATACTACAATTTGCAGGCTAGAGTCATTTATGGAAACT	PRKRA	Insertion (splice acceptor variant)	not provided	GUncertain significance
Select item 1049461	NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA	CHROMR, PRKRA	Insertion (splice acceptor variant)	Dystonia 16	GLikely pathogenic

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