Related gene-specific medical variations for Gene (Select 55120) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3247130	NC_000002.11:g.(?_58449057)_(58453929_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3247128	NC_000002.11:g.(?_58431245)_(58468448_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3247126	NC_000002.11:g.(?_58449057)_(58468448_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3247125	NC_000002.11:g.(?_58431245)_(58433394_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3247124	NC_000002.11:g.(?_58456939)_(58457019_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3241617	NM_018062.4(FANCL):c.1064dup (p.Phe356fs)	FANCL (F356fs +3 more)	Duplication (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 3241616	NM_018062.4(FANCL):c.1092+1G>T	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 3241615	NM_018062.4(FANCL):c.328_335dup (p.Leu114fs)	FANCL (L114fs)	Duplication (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 3241614	NM_018062.4(FANCL):c.442del (p.His148fs)	FANCL (H148fs)	Deletion (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 3241613	NM_018062.4(FANCL):c.1017_1018insA (p.Glu340fs)	FANCL (E340fs +3 more)	Insertion (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
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 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 3062595	GRCh37/hg19 2p16.1(chr2:58462488-58543884)x1	FANCL	Copy number loss	not specified	GUncertain significance
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 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 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 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 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 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 2675678	NM_018062.4(FANCL):c.691+2_691+5del	FANCL	Microsatellite (splice donor variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675677	NM_018062.4(FANCL):c.716_728del (p.Glu239fs)	FANCL (E239fs +3 more)	Deletion (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675676	NM_018062.4(FANCL):c.70del (p.Val24fs)	FANCL (V24fs)	Deletion (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675673	NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)	FANCL (K22*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675672	NM_018062.4(FANCL):c.1007del (p.Ile336fs)	FANCL (I336fs +3 more)	Deletion (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675669	NM_018062.4(FANCL):c.1029dup (p.Gly344fs)	FANCL (G344fs +3 more)	Duplication (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675668	NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)	FANCL (Q322* +3 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675667	NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)	FANCL (S112*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675665	NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)	FANCL (L53*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675664	NM_018062.4(FANCL):c.590del (p.Leu197fs)	FANCL (L197fs +3 more)	Deletion (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675663	NM_018062.4(FANCL):c.738dup (p.Met247fs)	FANCL (M247fs +3 more)	Duplication (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2675661	NM_018062.4(FANCL):c.1092+1G>C	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group L	GLikely pathogenic
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 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 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 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 2441352	NM_018062.4(FANCL):c.730C>T (p.His244Tyr)	FANCL (H244Y +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L	GUncertain significance
Select item 2441351	NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)	FANCL (N19S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L	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 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 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 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 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 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 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 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 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 1610332	NM_018062.4(FANCL):c.1093-34_1093-16del	VRK2, FANCL	Deletion (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 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 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 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 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 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 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 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 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 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 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 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 814266	GRCh37/hg19 2p16.1(chr2:58394415-58640538)x1	FANCL	Copy number loss	not provided	GUncertain significance
Select item 685651	GRCh37/hg19 2p16.1(chr2:58407577-58449545)x3	FANCL	Copy number gain	not provided	GUncertain significance
Select item 592040	NM_018062.4(FANCL):c.622G>T (p.Asp208Tyr)	FANCL (D208Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591281	NM_018062.4(FANCL):c.1076dup (p.Cys359fs)	FANCL (C359fs +3 more)	Duplication (frameshift variant)	not provided	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 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 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 336649	NM_018062.4(FANCL):c.447_450del	FANCL, VRK2	Deletion (3 prime UTR 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)	not specified +2 more	GLikely benign
Select item 210988	NM_006296.7(VRK2):c.102_105dup	FANCL, VRK2 (T372fs +3 more)	Duplication (frameshift variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 74