VRK2[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 147996	GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1	BCL11A, CCDC85A +83 more	Copy number loss	See cases	GPathogenic
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 148060	GRCh38/hg38 2p16.1(chr2:57802633-58951698)x3	FANCL, LINC01122 +20 more	Copy number gain	See cases	GUncertain significance
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 3189073	NM_006296.7(VRK2):c.16A>G (p.Asn6Asp)	VRK2 (N6D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189072	NM_006296.7(VRK2):c.160A>G (p.Lys54Glu)	VRK2 (K54E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334741	NM_006296.7(VRK2):c.187G>A (p.Glu63Lys)	VRK2 (E40K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257311	NM_006296.7(VRK2):c.358G>C (p.Val120Leu)	VRK2 (V120L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512136	NM_006296.7(VRK2):c.367A>G (p.Arg123Gly)	VRK2 (R123G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605989	NM_006296.7(VRK2):c.419A>G (p.Lys140Arg)	VRK2 (K140R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211809	NM_006296.7(VRK2):c.446G>A (p.Arg149Gln)	VRK2 (R126Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189074	NM_006296.7(VRK2):c.560A>G (p.Tyr187Cys)	VRK2 (Y164C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472022	NM_006296.7(VRK2):c.587A>G (p.Asn196Ser)	VRK2 (N78S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189075	NM_006296.7(VRK2):c.635G>A (p.Gly212Glu)	VRK2 (G212E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189076	NM_006296.7(VRK2):c.641T>C (p.Ile214Thr)	VRK2 (I191T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321632	NM_006296.7(VRK2):c.649A>G (p.Thr217Ala)	VRK2 (T194A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531462	NM_006296.7(VRK2):c.689G>A (p.Arg230Gln)	VRK2 (R112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356164	NM_006296.7(VRK2):c.696C>G (p.Asp232Glu)	VRK2 (D232E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189077	NM_006296.7(VRK2):c.724C>T (p.Arg242Trp)	VRK2 (R124W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189078	NM_006296.7(VRK2):c.725G>A (p.Arg242Gln)	VRK2 (R242Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189080	NM_006296.7(VRK2):c.857G>A (p.Cys286Tyr)	VRK2 (C263Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189081	NM_006296.7(VRK2):c.917A>G (p.Tyr306Cys)	VRK2 (Y283C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189082	NM_006296.7(VRK2):c.946C>T (p.His316Tyr)	VRK2 (H198Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189083	NM_006296.7(VRK2):c.983A>G (p.Lys328Arg)	VRK2 (K328R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289032	NM_006296.7(VRK2):c.1025T>C (p.Val342Ala)	VRK2 (V342A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240542	NM_006296.7(VRK2):c.1073G>A (p.Arg358Lys)	VRK2 (R335K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189068	NM_006296.7(VRK2):c.1089A>T (p.Lys363Asn)	VRK2 (K245N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189069	NM_006296.7(VRK2):c.1105A>G (p.Ser369Gly)	VRK2 (S251G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261211	NM_006296.7(VRK2):c.1115C>A (p.Ser372Tyr)	VRK2 (S254Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 895307	NM_018062.4(FANCL):c.*515A>C	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 336649	NM_018062.4(FANCL):c.447_450del	FANCL, VRK2	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 895308	NM_018062.4(FANCL):c.*434A>G	VRK2, FANCL	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 3189070	NM_006296.7(VRK2):c.1214A>T (p.Glu405Val)	FANCL, VRK2 (E382V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295143	NM_006296.7(VRK2):c.1253A>C (p.Gln418Pro)	FANCL, VRK2 (Q395P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 336650	NM_018062.4(FANCL):c.*333A>G	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group L	GLikely benign
Select item 2228470	NM_006296.7(VRK2):c.1279A>G (p.Asn427Asp)	FANCL, VRK2 (N309D +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2537125	NM_006296.7(VRK2):c.1292A>C (p.Glu431Ala)	FANCL, VRK2 (E313A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 336651	NM_006296.7(VRK2):c.1303G>A (p.Asp435Asn)	FANCL, VRK2 (D412N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 896725	NM_018062.4(FANCL):c.*281C>G	FANCL, VRK2 (D417H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 896726	NM_018062.4(FANCL):c.*165A>C	VRK2, FANCL	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 336652	NM_018062.4(FANCL):c.*165A>G	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 896727	NM_018062.4(FANCL):c.*128G>A	VRK2, FANCL (R373C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 2501233	NM_018062.4(FANCL):c.102_105dup	FANCL, VRK2 (L382fs +2 more)	Duplication (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 896728	NM_018062.4(FANCL):c.*95A>G	FANCL, VRK2 (F384L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 896729	NM_018062.4(FANCL):c.*89C>T	FANCL, VRK2 (A386T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 3189071	NM_006296.7(VRK2):c.1515A>T (p.Leu505Phe)	FANCL, VRK2 (L482F +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 659599	NC_000002.12:g.(?_58159755)_(58165884_?)del	FANCL, LOC129388866 +1 more	Deletion	Fanconi anemia	GLikely pathogenic
Select item 639373	NC_000002.12:g.(?_58159755)_(58241323_?)del	FANCL, LOC129388866 +2 more	Deletion	Fanconi anemia	GPathogenic
Select item 1114122	NM_018062.4(FANCL):c.1124A>C (p.His375Pro)	FANCL, VRK2 (H375P +3 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GLikely benign
Select item 1897752	NM_018062.4(FANCL):c.1123C>G (p.His375Asp)	FANCL, VRK2 (H395D +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1413174	NM_018062.4(FANCL):c.1121A>G (p.Lys374Arg)	FANCL, VRK2 (K389R +3 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2065032	NM_018062.4(FANCL):c.1118G>C (p.Arg373Thr)	FANCL, VRK2 (R378T +3 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 241246	NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala)	FANCL, VRK2 (G372A +3 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group L +2 more	GLikely benign
Select item 1432654	NM_018062.4(FANCL):c.1109T>C (p.Met370Thr)	FANCL, VRK2 (M375T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2650956	NM_018062.4(FANCL):c.1108del (p.Met370fs)	FANCL, VRK2 (M370fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 210988	NM_006296.7(VRK2):c.102_105dup	FANCL, VRK2 (T372fs +3 more)	Duplication (frameshift variant +1 more)	FANCL-related condition +5 more	GConflicting classifications of pathogenicity
Select item 2725683	NM_018062.4(FANCL):c.1096A>G (p.Ile366Val)	FANCL, VRK2 (I381V +3 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2443130	NM_018062.4(FANCL):c.1096A>T (p.Ile366Phe)	FANCL, VRK2 (I366F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2056815	NM_018062.4(FANCL):c.1093-10_1093-8del	VRK2, FANCL	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1624443	NM_018062.4(FANCL):c.1093-19_1093-9dup	FANCL, VRK2	Duplication (3 prime UTR variant +1 more)	Fanconi anemia +1 more	GLikely benign
Select item 2843254	NM_018062.4(FANCL):c.1093-10C>A	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2073314	NM_018062.4(FANCL):c.1093-11T>A	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2787459	NM_018062.4(FANCL):c.1093-12C>G	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2720676	NM_018062.4(FANCL):c.1093-13T>C	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2143489	NM_018062.4(FANCL):c.1093-13T>A	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2056913	NM_018062.4(FANCL):c.1093-15G>A	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1609491	NM_018062.4(FANCL):c.1093-15G>T	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1610332	NM_018062.4(FANCL):c.1093-34_1093-16del	FANCL, VRK2	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2699972	NM_018062.4(FANCL):c.1093-17A>T	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2808797	NM_018062.4(FANCL):c.1093-18T>G	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1274642	NM_018062.4(FANCL):c.1093-65G>A	FANCL, VRK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2426433	NC_000002.11:g.(?_58386900)_(58393029_?)dup	FANCL, VRK2	Duplication	Fanconi anemia	GUncertain significance
Select item 2426432	NC_000002.11:g.(?_58386900)_(58459267_?)del	FANCL, VRK2	Deletion	Fanconi anemia	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1526751	GRCh37/hg19 2p16.1(chr2:58347020-58560846)	FANCL, VRK2	Copy number gain	not specified	GUncertain significance
Select item 1430265	NC_000002.11:g.(?_58386900)_(58390229_?)dup	FANCL, VRK2	Duplication	Fanconi anemia	GUncertain significance
Select item 1422903	NC_000002.11:g.(?_58386900)_(58468448_?)dup	FANCL, VRK2	Duplication	Fanconi anemia	GUncertain significance
Select item 978180	NC_000002.11:g.58271895_58333429dup	VRK2	Duplication	Seizure	GUncertain significance
Select item 831291	NC_000002.12:g.(?_58159755)_(58241323_?)dup	FANCL, VRK2	Duplication	Fanconi anemia	GUncertain significance
Select item 689038	GRCh37/hg19 2p16.1(chr2:56175876-60780215)x1	BCL11A, CCDC85A +4 more	Copy number loss	not provided	GPathogenic
Select item 686890	GRCh37/hg19 2p16.1(chr2:57320871-60143201)x1	FANCL, VRK2	Copy number loss	not provided	GUncertain significance
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 393862	GRCh37/hg19 2p16.1(chr2:58190764-58386590)x3	FANCL, VRK2	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 90