VRK2[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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 3332322	NM_006296.7(VRK2):c.469A>C (p.Ile157Leu)	VRK2 (I39L +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 3332319	NM_006296.7(VRK2):c.1162A>T (p.Met388Leu)	VRK2 (M270L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 +1 more	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)	VRK2, FANCL (D412N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 3332325	NM_006296.7(VRK2):c.1312A>G (p.Ser438Gly)	FANCL, VRK2 (S320G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 3332321	NM_006296.7(VRK2):c.1321A>G (p.Ile441Val)	FANCL, VRK2 (I441V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332320	NM_006296.7(VRK2):c.1327A>C (p.Lys443Gln)	FANCL, VRK2 (K325Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332323	NM_006296.7(VRK2):c.1418C>T (p.Thr473Ile)	FANCL, VRK2 (T355I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 896726	NM_018062.4(FANCL):c.*165A>C	FANCL, VRK2	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 3332324	NM_006296.7(VRK2):c.1442A>C (p.Glu481Ala)	FANCL, VRK2 (E458A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 (3 prime UTR 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	VRK2, FANCL +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 (missense 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 (missense 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)	Fanconi anemia +4 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	FANCL, VRK2	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 complementation group L +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 3247132	NC_000002.11:g.(?_58386900)_(58459257_?)dup	FANCL, VRK2	Duplication	Fanconi anemia	GUncertain significance
Select item 3247131	NC_000002.11:g.(?_58386900)_(58393029_?)del	FANCL, VRK2	Deletion	Fanconi anemia	GLikely pathogenic
Select item 3247129	NC_000002.11:g.(?_58386900)_(58453929_?)del	FANCL, VRK2	Deletion	Fanconi anemia	GPathogenic
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	VRK2-related Epilepsy syndrome	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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +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

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Items: 100