"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FANCL"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 414859	NM_018062.4(FANCL):c.1021-6T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GLikely benign
Select item 241247	NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	FANCL	Deletion (inframe_indel)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 257495	NM_018062.4(FANCL):c.981T>C (p.Ser327=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group L +3 more	GBenign
Select item 408228	NM_018062.4(FANCL):c.949G>A (p.Gly317Ser)	FANCL (G322S +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 1381209	NM_018062.4(FANCL):c.913A>T (p.Met305Leu)	FANCL (M305L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1134653	NM_018062.4(FANCL):c.903+10A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia complementation group L +1 more	GLikely benign
Select item 216702	NM_018062.4(FANCL):c.884G>A (p.Arg295His)	FANCL (R295H +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 574187	NM_018062.4(FANCL):c.881C>T (p.Ala294Val)	FANCL (A294V +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 956027	NM_018062.4(FANCL):c.860T>G (p.Val287Gly)	FANCL (V287G +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 1406505	NM_018062.4(FANCL):c.845A>G (p.Gln282Arg)	FANCL (Q287R +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1035640	NM_018062.4(FANCL):c.842T>C (p.Leu281Ser)	FANCL (L286S +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 220759	NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)	FANCL (F257C +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +2 more	GBenign/Likely benign
Select item 219754	NM_018062.4(FANCL):c.706A>G (p.Ile236Val)	FANCL (I241V +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 571432	NM_018062.4(FANCL):c.692G>A (p.Gly231Asp)	FANCL (G231D +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +2 more	GUncertain significance
Select item 1000349	NM_018062.4(FANCL):c.679A>G (p.Arg227Gly)	FANCL (R227G +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 897200	NM_018062.4(FANCL):c.677G>A (p.Arg226His)	FANCL (R241H +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 241252	NM_018062.4(FANCL):c.670A>G (p.Thr224Ala)	FANCL (T224A +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 847507	NM_018062.4(FANCL):c.662G>A (p.Arg221Gln)	FANCL (R221Q +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 864195	NM_018062.4(FANCL):c.649G>C (p.Glu217Gln)	FANCL (E232Q +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 1691891	NM_018062.4(FANCL):c.640C>T (p.Leu214Phe)	FANCL (L214F +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 526332	NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)	FANCL (D208N +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 699995	NM_018062.4(FANCL):c.621C>T (p.Ile207=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group L +1 more	GLikely benign
Select item 1441571	NM_018062.4(FANCL):c.611T>C (p.Met204Thr)	FANCL (M209T +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 840033	NM_018062.4(FANCL):c.580A>G (p.Ile194Val)	FANCL (I209V +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1593106	NM_018062.4(FANCL):c.525C>T (p.Ala175=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 898372	NM_018062.4(FANCL):c.524C>T (p.Ala175Val)	FANCL (A175V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1657672	NM_018062.4(FANCL):c.472-15A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia complementation group L +1 more	GLikely benign
Select item 1536703	NM_018062.4(FANCL):c.471+12G>A	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1355189	NM_018062.4(FANCL):c.428C>T (p.Ala143Val)	FANCL (A143V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 945282	NM_018062.4(FANCL):c.401G>T (p.Ser134Ile)	FANCL (S134I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 1336849	NM_018062.4(FANCL):c.392C>T (p.Thr131Ile)	FANCL (T131I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1598598	NM_018062.4(FANCL):c.375-15T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GBenign/Likely benign
Select item 1433045	NM_018062.4(FANCL):c.308C>A (p.Ala103Glu)	FANCL (A103E)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 408229	NM_018062.4(FANCL):c.288G>T (p.Lys96Asn)	FANCL (K96N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 1242539	NM_018062.4(FANCL):c.273+19dup	FANCL	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1516268	NM_018062.4(FANCL):c.273+1G>C	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 648626	NM_018062.4(FANCL):c.246C>G (p.Ser82Arg)	FANCL (S82R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1422855	NM_018062.4(FANCL):c.241A>G (p.Met81Val)	FANCL (M81V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 408230	NM_018062.4(FANCL):c.238C>G (p.Leu80Val)	FANCL (L80V)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 1026011	NM_018062.4(FANCL):c.203G>A (p.Arg68Gln)	FANCL (R68Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 625941	NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)	FANCL	Indel (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 456242	NM_018062.4(FANCL):c.142C>G (p.Leu48Val)	FANCL (L48V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1621652	NM_018062.4(FANCL):c.97-11A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 835087	NM_018062.4(FANCL):c.76G>C (p.Glu26Gln)	FANCL (E26Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1217241	NM_018062.4(FANCL):c.50C>G (p.Pro17Arg)	FANCL (P17R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 958767	NM_018062.4(FANCL):c.40del (p.Leu14fs)	FANCL (L14fs)	Deletion (frameshift variant)	Fanconi anemia complementation group L +1 more	GPathogenic/Likely pathogenic
Select item 1390403	NM_018062.4(FANCL):c.28C>G (p.Arg10Gly)	FANCL (R10G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 1044303	NM_018062.4(FANCL):c.27G>C (p.Leu9Phe)	FANCL (L9F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1038064	NM_018062.4(FANCL):c.22C>A (p.Leu8Met)	FANCL (L8M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 1056471	NM_018062.4(FANCL):c.20G>T (p.Ser7Ile)	FANCL (S7I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 940221	NM_018062.4(FANCL):c.20G>A (p.Ser7Asn)	FANCL (S7N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 1032784	NM_018062.4(FANCL):c.-3G>C	FANCL	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance

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Items: 55