"GeneDx"[submitter] AND "PRKRA"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
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 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 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 332620	NM_003690.5(PRKRA):c.*3C>T	CHROMR, PRKRA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 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 469612	NM_003690.5(PRKRA):c.795C>T (p.Ser265=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	Dystonia 16 +1 more	GBenign
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 425237	NM_003690.5(PRKRA):c.784+6A>T	CHROMR, PRKRA	Single nucleotide variant (intron variant)	Dystonia 16 +1 more	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 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 332625	NM_003690.5(PRKRA):c.610-11_610-10del	CHROMR, PRKRA	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely 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 1219736	NM_003690.5(PRKRA):c.609+20A>G	PRKRA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 332627	NM_003690.5(PRKRA):c.515-11del	PRKRA	Deletion (intron variant)	Dystonia 16 +2 more	GBenign/Likely benign
Select item 1253404	NM_003690.5(PRKRA):c.515-200_515-199dup	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 1217723	NM_003690.5(PRKRA):c.515-200_515-198dup	PRKRA	Duplication (intron variant)	not provided	GLikely benign
Select item 1280625	NM_003690.5(PRKRA):c.515-184del	PRKRA	Deletion (intron variant)	not provided	GBenign
Select item 1195438	NM_003690.5(PRKRA):c.515-206C>T	PRKRA	Single nucleotide variant (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 1193040	NM_003690.5(PRKRA):c.514+224_514+227del	PRKRA	Deletion (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 1290370	NM_003690.5(PRKRA):c.397-187T>C	PRKRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216295	NM_003690.5(PRKRA):c.396+183T>C	PRKRA	Single nucleotide variant (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 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 704153	NM_003690.5(PRKRA):c.261G>A (p.Ala87=)	PRKRA	Single nucleotide variant (synonymous variant +1 more)	Dystonia 16 +1 more	GLikely benign
Select item 1247302	NM_003690.5(PRKRA):c.236-130_236-128dup	PRKRA	Duplication (intron 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 332631	NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly)	PRKRA (D58G +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 16 +2 more	GBenign/Likely 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 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 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 1175584	NM_003690.5(PRKRA):c.65+192G>C	PRKRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 332633	NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu)	PJVK, PRKRA (P11L)	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonic disorder +3 more	GBenign/Likely benign
Select item 332634	NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)	PJVK, PRKRA (A8fs)	Microsatellite (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 332635	NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)	PJVK, PRKRA (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +4 more	GBenign/Likely benign
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 332637	NM_003690.5(PRKRA):c.-24G>A	PJVK, PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonic disorder +3 more	GBenign/Likely benign
Select item 1198681	NC_000002.12:g.178451176G>C	PRKRA	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 332644	NM_003690.4(PRKRA):c.-177G>A	PRKRA	Single nucleotide variant	Dystonic disorder +1 more	GBenign/Likely benign
Select item 332645	NM_003690.4(PRKRA):c.-181C>T	PRKRA	Single nucleotide variant	Dystonic disorder +1 more	GBenign/Likely benign
Select item 1267758	NC_000002.12:g.178451344C>T	PRKRA	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 52