FANCL[gene] - ClinVar - NCBI

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	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 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 2295143	NM_006296.7(VRK2):c.1253A>C (p.Gln418Pro)	FANCL, VRK2 (Q395P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases +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 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	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	VRK2, FANCL	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	VRK2, FANCL	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 1262258	NM_018062.4(FANCL):c.1092+58T>C	FANCL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2909741	NM_018062.4(FANCL):c.1092+18C>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1562520	NM_018062.4(FANCL):c.1092+18C>A	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2829806	NM_018062.4(FANCL):c.1092+17T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2718229	NM_018062.4(FANCL):c.1092+15A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2718247	NM_018062.4(FANCL):c.1092+14T>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1582366	NM_018062.4(FANCL):c.1092+8A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 572699	NM_018062.4(FANCL):c.1092+1_1092+5del	FANCL	Microsatellite (splice donor variant)	Fanconi anemia	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 929823	NM_018062.4(FANCL):c.1092G>A (p.Lys364=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group L +1 more	GPathogenic
Select item 641689	NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn)	FANCL (S368N +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2143693	NM_018062.4(FANCL):c.1080A>G (p.Pro360=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1440583	NM_018062.4(FANCL):c.1078C>A (p.Pro360Thr)	FANCL (P365T +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1378618	NM_018062.4(FANCL):c.1078C>G (p.Pro360Ala)	FANCL (P375A +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	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 221091	NM_018062.4(FANCL):c.1077T>C (p.Cys359=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group L +2 more	GBenign/Likely benign
Select item 2675674	NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)	FANCL (E358* +3 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GLikely pathogenic
Select item 241248	NM_018062.4(FANCL):c.1067T>G (p.Phe356Cys)	FANCL (F356C +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1306615	NM_018062.4(FANCL):c.1065A>G (p.Ile355Met)	FANCL (I355M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1915702	NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)	FANCL (I354V +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1027625	NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs)	FANCL (S351fs +3 more)	Microsatellite (frameshift variant)	not specified +1 more	GUncertain significance
Select item 660117	NM_018062.4(FANCL):c.1052G>A (p.Ser351Asn)	FANCL (S351N +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 408227	NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)	FANCL (S351fs +3 more)	Microsatellite (frameshift variant)	Fanconi anemia complementation group L +2 more	GConflicting classifications of pathogenicity
Select item 810845	NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs)	FANCL (Q355fs +3 more)	Deletion (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 2109924	NM_018062.4(FANCL):c.1049dup (p.Ser351fs)	FANCL (S356fs +3 more)	Duplication (frameshift variant)	Fanconi anemia	GLikely pathogenic
Select item 947751	NM_018062.4(FANCL):c.1050G>T (p.Gln350His)	FANCL (Q350H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2762387	NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)	FANCL (Q355* +3 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GLikely pathogenic
Select item 2675670	NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)	FANCL	Microsatellite (frameshift variant +1 more)	Fanconi anemia complementation group L +1 more	GLikely pathogenic
Select item 2795842	NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)	FANCL (S348G +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2039117	NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)	FANCL (L351del +3 more)	Microsatellite (inframe_indel +1 more)	Fanconi anemia	GUncertain significance
Select item 1626749	NM_018062.4(FANCL):c.1033C>T (p.Leu345=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2675675	NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)	FANCL	Deletion (inframe_indel +1 more)	Fanconi anemia +1 more	GPathogenic/Likely 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 1394014	NM_018062.4(FANCL):c.1024C>G (p.Leu342Val)	FANCL (L357V +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1035033	NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg)	FANCL (W346R +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2828622	NM_018062.4(FANCL):c.1021-2A>G	FANCL	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 414859	NM_018062.4(FANCL):c.1021-6T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GLikely benign
Select item 1966868	NM_018062.4(FANCL):c.1021-7T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2732830	NM_018062.4(FANCL):c.1021-18_1021-14dup	FANCL	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 2969514	NM_018062.4(FANCL):c.1021-18_1021-15dup	FANCL	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 2848447	NM_018062.4(FANCL):c.1021-23_1021-15del	FANCL	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2872777	NM_018062.4(FANCL):c.1021-16C>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2727790	NM_018062.4(FANCL):c.1021-18A>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2148084	NM_018062.4(FANCL):c.1021-22_1021-20del	FANCL	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 1195109	NM_018062.4(FANCL):c.1020+338C>T	FANCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909569	NM_018062.4(FANCL):c.1020+20T>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2428413	NM_018062.4(FANCL):c.1020+18T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2037936	NM_018062.4(FANCL):c.1020+17T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1612097	NM_018062.4(FANCL):c.1020+15T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2704223	NM_018062.4(FANCL):c.1020+14del	FANCL	Deletion (intron variant)	Fanconi anemia	GBenign
Select item 2048866	NM_018062.4(FANCL):c.1020+14A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2731804	NM_018062.4(FANCL):c.1020+9_1020+11del	FANCL	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2912416	NM_018062.4(FANCL):c.1020+8dup	FANCL	Duplication (intron variant)	Fanconi anemia	GBenign
Select item 2912190	NM_018062.4(FANCL):c.1017T>C (p.Tyr339=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign

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