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

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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 complementation group L +1 more	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 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)	VRK2, FANCL (D412N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +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 +1 more	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)	Fanconi anemia complementation group L +2 more	GLikely benign
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

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Items: 74