"Illumina Laboratory Services, Illumina"[submitter] AND "VRK1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369085	NM_003384.2(VRK1):c.-110C>T	VRK1, LOC130056407	Single nucleotide variant	Pontoneocerebellar hypoplasia	GLikely benign
Select item 315120	NM_003384.2(VRK1):c.-81C>T	LOC130056407, VRK1	Single nucleotide variant	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 888342	NM_003384.3(VRK1):c.-11C>T	LOC130056407, VRK1	Single nucleotide variant (5 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 130731	NM_003384.3(VRK1):c.45A>G (p.Ala15=)	VRK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 888343	NM_003384.3(VRK1):c.161-14A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GConflicting classifications of pathogenicity
Select item 641662	NM_003384.3(VRK1):c.161-3C>T	VRK1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 315121	NM_003384.3(VRK1):c.261C>T (p.Tyr87=)	VRK1	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 885232	NM_003384.3(VRK1):c.374+11G>A	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 315122	NM_003384.3(VRK1):c.375-8G>C	VRK1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 130732	NM_003384.3(VRK1):c.705C>T (p.Gly235=)	VRK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 885233	NM_003384.3(VRK1):c.828T>C (p.Ile276=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GConflicting classifications of pathogenicity
Select item 130730	NM_003384.3(VRK1):c.858G>T (p.Met286Ile)	VRK1 (M286I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 286548	NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)	VRK1 (N294K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 315123	NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)	VRK1 (K301E)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +2 more	GUncertain significance
Select item 378856	NM_003384.3(VRK1):c.1020C>T (p.Asp340=)	VRK1	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +2 more	GUncertain significance
Select item 315124	NM_003384.3(VRK1):c.1069-9A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A +1 more	GConflicting classifications of pathogenicity
Select item 886126	NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)	VRK1 (T373M)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 632224	NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)	VRK1 (K392fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 886127	NM_003384.3(VRK1):c.*104A>G	VRK1	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 315125	NM_003384.3(VRK1):c.*107A>G	VRK1	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 886128	NM_003384.3(VRK1):c.*171C>A	VRK1	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 315126	NM_003384.3(VRK1):c.*211A>G	VRK1	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 886129	NM_003384.3(VRK1):c.*281G>A	VRK1	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 887135	NM_003384.3(VRK1):c.*302T>C	VRK1	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 887136	NM_003384.3(VRK1):c.*338A>G	VRK1	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance

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Items: 26