ClinVar for MedGen (Select 854018) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675679	NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)	FANCL (W212* +3 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 2675666	NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)	FANCL (S30*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely 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 2675660	NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)	FANCL (W274* +3 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2672815	NM_018062.4(FANCL):c.217-2A>G	FANCL	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group L +2 more	GConflicting classifications of pathogenicity
Select item 2501746	NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)	FANCL (N50fs)	Indel (frameshift variant)	Fanconi anemia complementation group L	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 2194330	NM_018062.4(FANCL):c.903+1del	FANCL	Deletion (splice donor variant)	Fanconi anemia complementation group L +1 more	GLikely pathogenic
Select item 1951904	NM_018062.4(FANCL):c.28del (p.Arg10fs)	FANCL (R10fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1705600	NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)	FANCL (L8fs)	Duplication (frameshift variant +1 more)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 1704583	NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)	FANCL (Q75*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
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 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 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 1621652	NM_018062.4(FANCL):c.97-11A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia complementation group L +1 more	GLikely benign
Select item 1598598	NM_018062.4(FANCL):c.375-15T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia complementation group L +1 more	GBenign/Likely benign
Select item 1593106	NM_018062.4(FANCL):c.525C>T (p.Ala175=)	FANCL	Single nucleotide variant (synonymous 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 complementation group L +1 more	GLikely benign
Select item 1516268	NM_018062.4(FANCL):c.273+1G>C	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group L +1 more	GConflicting classifications of pathogenicity
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 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 1422855	NM_018062.4(FANCL):c.241A>G (p.Met81Val)	FANCL (M81V)	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 1390403	NM_018062.4(FANCL):c.28C>G (p.Arg10Gly)	FANCL (R10G)	Single nucleotide variant (missense variant)	Fanconi anemia +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)	Fanconi anemia +1 more	GUncertain significance
Select item 1355189	NM_018062.4(FANCL):c.428C>T (p.Ala143Val)	FANCL (A143V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +2 more	GUncertain significance
Select item 1336849	NM_018062.4(FANCL):c.392C>T (p.Thr131Ile)	FANCL (T131I)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1332720	NM_018062.4(FANCL):c.746_756del (p.Pro249fs)	FANCL (P249fs +3 more)	Deletion (frameshift variant)	Fanconi anemia complementation group L	GPathogenic
Select item 1319323	NM_018062.4(FANCL):c.641T>C (p.Leu214Pro)	FANCL (L214P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1242539	NM_018062.4(FANCL):c.273+19dup	FANCL	Duplication (intron variant)	Fanconi anemia complementation group L +1 more	GBenign
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 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 1066864	NM_018062.4(FANCL):c.472-1G>C	FANCL	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 1056471	NM_018062.4(FANCL):c.20G>T (p.Ser7Ile)	FANCL (S7I)	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 complementation group L +1 more	GUncertain significance
Select item 1040785	NM_018062.4(FANCL):c.500T>C (p.Val167Ala)	FANCL (V167A)	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 +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 +1 more	GUncertain significance
Select item 1032785	NM_018062.4(FANCL):c.992A>C (p.Gln331Pro)	FANCL (Q346P +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L	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
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 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 1000349	NM_018062.4(FANCL):c.679A>G (p.Arg227Gly)	FANCL (R227G +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 997630	NM_018062.4(FANCL):c.488C>G (p.Pro163Arg)	FANCL (P163R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	GUncertain significance
Select item 997506	NM_018062.4(FANCL):c.904-4G>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
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 956027	NM_018062.4(FANCL):c.860T>G (p.Val287Gly)	FANCL (V287G +3 more)	Single nucleotide variant (missense variant)	FANCL-related condition +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 940221	NM_018062.4(FANCL):c.20G>A (p.Ser7Asn)	FANCL (S7N)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 929821	NM_018062.4(FANCL):c.375-2033C>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia complementation group L +1 more	GConflicting classifications of pathogenicity
Select item 898374	NM_018062.4(FANCL):c.436A>G (p.Arg146Gly)	FANCL (R146G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L	GUncertain significance
Select item 898373	NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)	FANCL (Y165D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 898372	NM_018062.4(FANCL):c.524C>T (p.Ala175Val)	FANCL (A175V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 898371	NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)	FANCL (T178K)	Single nucleotide variant (missense variant)	Fanconi anemia +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 897199	NM_018062.4(FANCL):c.795T>C (p.Ile265=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group L	GUncertain significance
Select item 897198	NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)	FANCL (D291Y +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L	GUncertain significance
Select item 896789	NM_001114636.1(FANCL):c.-35C>T	FANCL	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 896788	NM_001114636.1(FANCL):c.-34T>C	FANCL	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 896787	NM_001114636.1(FANCL):c.-26T>A	FANCL	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
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 (missense 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	VRK2, FANCL	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 895387	NM_018062.4(FANCL):c.5C>T (p.Ala2Val)	FANCL (A2V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group L +1 more	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 864195	NM_018062.4(FANCL):c.649G>C (p.Glu217Gln)	FANCL (E232Q +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 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 837030	NM_018062.4(FANCL):c.378T>A (p.Leu126=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group L +1 more	GConflicting classifications of pathogenicity
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 810846	NM_018062.4(FANCL):c.739dup (p.Met247fs)	FANCL (M247fs +3 more)	Duplication (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
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 801717	NM_018062.4(FANCL):c.296_297del (p.Gln99fs)	FANCL (Q99fs)	Deletion (frameshift variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 699995	NM_018062.4(FANCL):c.621C>T (p.Ile207=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
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 625941	NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)	FANCL	Indel (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 625940	NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del)	FANCL (I184del +3 more)	Microsatellite (inframe_indel +1 more)	Fanconi anemia complementation group L	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 571432	NM_018062.4(FANCL):c.692G>A (p.Gly231Asp)	FANCL (G231D +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 566870	NM_018062.4(FANCL):c.2T>C (p.Met1Thr)	FANCL (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 566288	NM_018062.4(FANCL):c.273+1G>A	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GLikely pathogenic

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