"Ambry Genetics"[submitter] AND "VRK1"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 574450	NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)	VRK1 (R3F)	Indel (missense variant)	Congenital pontocerebellar hypoplasia type 1 +1 more	GUncertain significance
Select item 990857	NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)	VRK1 (G10E)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 1753892	NM_003384.3(VRK1):c.64C>G (p.Gln22Glu)	VRK1 (Q22E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423397	NM_003384.3(VRK1):c.127A>G (p.Ile43Val)	VRK1 (I43V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 966138	NM_003384.3(VRK1):c.151A>G (p.Ile51Val)	VRK1 (I51V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 641662	NM_003384.3(VRK1):c.161-3C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 281245	NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)	VRK1 (S59A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1453030	NM_003384.3(VRK1):c.179_180del (p.Glu60fs)	VRK1 (E60fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 507516	NM_003384.3(VRK1):c.183A>C (p.Ser61=)	VRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1783781	NM_003384.3(VRK1):c.197C>T (p.Ala66Val)	VRK1 (A66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1066779	NM_003384.3(VRK1):c.216+1G>C	VRK1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 1789401	NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)	VRK1 (N77S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 533537	NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)	VRK1 (R89*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 197213	NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	VRK1 (R89Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1799018	NM_003384.3(VRK1):c.302G>C (p.Arg101Pro)	VRK1 (R101P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1483675	NM_003384.3(VRK1):c.302G>A (p.Arg101His)	VRK1 (R101H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 575292	NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)	VRK1 (R103C)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 1983485	NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)	VRK1 (I130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 638314	NM_003384.3(VRK1):c.398G>A (p.Arg133His)	VRK1 (R133H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2330493	NM_003384.3(VRK1):c.409G>A (p.Asp137Asn)	VRK1 (D137N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1739083	NM_003384.3(VRK1):c.424T>C (p.Tyr142His)	VRK1 (Y142H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1408897	NM_003384.3(VRK1):c.440A>G (p.Lys147Arg)	VRK1 (K147R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 2541929	NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)	VRK1 (L155*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 837803	NM_003384.3(VRK1):c.551T>A (p.Leu184His)	VRK1 (L184H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 1749278	NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)	VRK1 (D191N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1057157	NM_003384.3(VRK1):c.583T>G (p.Leu195Val)	VRK1 (L195V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 950265	NM_003384.3(VRK1):c.586G>C (p.Val196Leu)	VRK1 (V196L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 2338881	NM_003384.3(VRK1):c.643G>A (p.Glu215Lys)	VRK1 (E215K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754275	NM_003384.3(VRK1):c.657A>T (p.Arg219Ser)	VRK1 (R219S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558558	NM_003384.3(VRK1):c.686G>A (p.Ser229Asn)	VRK1 (S229N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 664847	NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)	VRK1 (N234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 218924	NM_003384.3(VRK1):c.706G>A (p.Val236Met)	VRK1 (V236M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 971947	NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)	VRK1 (R241C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 647867	NM_003384.3(VRK1):c.817G>C (p.Asp273His)	VRK1 (D273H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 578869	NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)	VRK1 (I282T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 130730	NM_003384.3(VRK1):c.858G>T (p.Met286Ile)	VRK1 (M286I)	Single nucleotide variant (missense variant)	VRK1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 651371	NM_003384.3(VRK1):c.860A>G (p.Asp287Gly)	VRK1 (D287G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 286548	NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)	VRK1 (N294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 945901	NM_003384.3(VRK1):c.889+1G>T	VRK1	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 1A +1 more	GLikely pathogenic
Select item 315123	NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)	VRK1 (K301E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1039212	NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)	VRK1 (K338R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 378856	NM_003384.3(VRK1):c.1020C>T (p.Asp340=)	VRK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 451762	NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)	VRK1 (L341F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2282790	NM_003384.3(VRK1):c.1051G>A (p.Ala351Thr)	VRK1 (A351T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 193863	NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)	VRK1 (T353del)	Deletion (inframe_deletion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2331109	NM_003384.3(VRK1):c.1068+3G>A	VRK1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 7497	NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	VRK1 (R358*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies +4 more	GPathogenic
Select item 1732957	NM_003384.3(VRK1):c.1147G>T (p.Ala383Ser)	VRK1 (A383S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212586	NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)	VRK1 (I384V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 971416	NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)	VRK1 (R387C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 521856	NM_003384.3(VRK1):c.1160G>A (p.Arg387His)	VRK1 (R387H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 533539	NM_003384.3(VRK1):c.1164A>C (p.Ser388=)	VRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1741362	NM_003384.3(VRK1):c.1179_1180del (p.Arg393fs)	VRK1 (R393fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GUncertain significance

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Items: 53