CHROMR[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 894031	NM_003690.5(PRKRA):c.*655T>C	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16 +1 more	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 332611	NM_003690.5(PRKRA):c.573_575dup	CHROMR, PRKRA	Duplication (3 prime UTR variant)	Dystonic disorder	GBenign
Select item 894033	NM_003690.5(PRKRA):c.*553A>G	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 332612	NM_003690.5(PRKRA):c.*435ATTG[1]	CHROMR, PRKRA	Microsatellite (3 prime UTR variant)	Dystonic disorder	GBenign
Select item 332613	NM_003690.5(PRKRA):c.*313G>A	PRKRA, CHROMR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332614	NM_003690.5(PRKRA):c.*265A>C	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 894034	NM_003690.5(PRKRA):c.*200G>A	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 332615	NM_003690.5(PRKRA):c.*198C>T	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 332616	NM_003690.5(PRKRA):c.*180C>T	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 332617	NM_003690.5(PRKRA):c.*159T>C	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 332618	NM_003690.5(PRKRA):c.*158A>G	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332619	NM_003690.5(PRKRA):c.*151A>T	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16	GUncertain significance
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 894434	NM_003690.5(PRKRA):c.*31G>A	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	Dystonia 16	GLikely benign
Select item 583796	NC_000002.11:g.(?_179296804)_(179456251_?)dup	CHROMR, FKBP7 +17 more	Duplication	Dystonia 16	GUncertain significance
Select item 332620	NM_003690.5(PRKRA):c.*3C>T	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 1098199	NM_003690.5(PRKRA):c.891T>C (p.Asp297=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GLikely benign
Select item 332621	NM_003690.5(PRKRA):c.870C>T (p.Ser290=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GUncertain significance
Select item 2124843	NM_003690.5(PRKRA):c.861C>A (p.Ser287=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16	GUncertain significance
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 3310210	NM_003690.5(PRKRA):c.860C>G (p.Ser287Cys)	CHROMR, PRKRA (S174C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 537332	NM_003690.5(PRKRA):c.851G>T (p.Cys284Phe)	PRKRA, CHROMR (C284F +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
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 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 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 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 1365242	NM_003690.5(PRKRA):c.795C>A (p.Ser265Arg)	CHROMR, PRKRA (S265R +3 more)	Single nucleotide variant (missense variant)	Dystonia 16	GUncertain significance
Select item 469612	NM_003690.5(PRKRA):c.795C>T (p.Ser265=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16 +1 more	GBenign
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 225447	NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT	PRKRA, CHROMR	Insertion (splice acceptor variant)	Dystonia 16	GUncertain significance
Select item 3058428	NM_003690.5(PRKRA):c.785-10G>A	CHROMR, PRKRA	Single nucleotide variant (intron variant)	PRKRA-related disorder	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 1214112	NM_003690.5(PRKRA):c.784+241T>A	CHROMR, PRKRA	Single nucleotide variant (intron 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 2106187	NM_003690.5(PRKRA):c.784+15dup	CHROMR, PRKRA	Duplication (intron variant)	Dystonia 16	GBenign
Select item 1574809	NM_003690.5(PRKRA):c.784+15del	CHROMR, PRKRA	Deletion (intron variant)	Dystonia 16	GBenign/Likely benign
Select item 332622	NM_003690.5(PRKRA):c.784+15T>C	CHROMR, PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GUncertain significance
Select item 1610154	NM_003690.5(PRKRA):c.784+14T>A	CHROMR, PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 425237	NM_003690.5(PRKRA):c.784+6A>T	CHROMR, PRKRA	Single nucleotide variant (intron variant)	Dystonia 16 +1 more	GLikely benign
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 290962	NM_003690.5(PRKRA):c.704G>C (p.Ser235Thr)	CHROMR, PRKRA (S235T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 332623	NM_003690.5(PRKRA):c.685C>T (p.Leu229=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16 +1 more	GBenign
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 332624	NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn)	CHROMR, PRKRA (I226N +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 6346	NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)	CHROMR, PRKRA (P222L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 893005	NM_003690.5(PRKRA):c.654G>A (p.Leu218=)	PRKRA, CHROMR	Single nucleotide variant (synonymous variant)	Dystonia 16	GConflicting classifications of pathogenicity
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 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 3218879	NM_003690.5(PRKRA):c.634G>C (p.Gly212Arg)	CHROMR, PRKRA (G187R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990743	NM_003690.5(PRKRA):c.616G>A (p.Val206Ile)	CHROMR, PRKRA (V181I +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 1049461	NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA	CHROMR, PRKRA	Insertion (splice acceptor variant)	Dystonia 16	GLikely pathogenic
Select item 332625	NM_003690.5(PRKRA):c.610-11_610-10del	CHROMR, PRKRA	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2154973	NM_003690.5(PRKRA):c.610-18T>G	CHROMR, PRKRA	Single nucleotide variant (intron variant)	Dystonia 16	GLikely benign
Select item 1214085	NM_003690.5(PRKRA):c.610-291C>T	CHROMR, PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 70