C3469528[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 241247	NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	FANCL	Deletion (inframe_indel)	FANCL-related condition +4 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 336653	NM_018062.4(FANCL):c.969G>A (p.Val323=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group L +1 more	GConflicting classifications of pathogenicity
Select item 336654	NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)	FANCL (Y316* +3 more)	Duplication (frameshift variant +1 more)	Fanconi anemia complementation group L +1 more	GConflicting classifications of pathogenicity
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 414854	NM_018062.4(FANCL):c.817T>C (p.Leu273=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GBenign/Likely benign
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 220759	NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)	FANCL (F257C +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
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)	not specified +3 more	GBenign/Likely benign
Select item 526332	NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)	FANCL (D208N +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 414860	NM_018062.4(FANCL):c.534A>G (p.Thr178=)	FANCL	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 414856	NM_018062.4(FANCL):c.273+7A>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia complementation group L +1 more	GConflicting classifications of pathogenicity
Select item 408230	NM_018062.4(FANCL):c.238C>G (p.Leu80Val)	FANCL (L80V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 257493	NM_018062.4(FANCL):c.217-11T>C	FANCL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 456243	NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)	FANCL (R68P)	Single nucleotide variant (missense variant)	FANCL-related condition +3 more	GConflicting classifications of pathogenicity
Select item 221092	NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)	FANCL (L38F)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 414861	NM_018062.4(FANCL):c.108C>G (p.Phe36Leu)	FANCL (F36L)	Single nucleotide variant (missense variant)	FANCL-related condition +4 more	GBenign/Likely benign
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 241251	NM_018062.4(FANCL):c.4G>T (p.Ala2Ser)	FANCL (A2S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 336656	NM_001114636.1(FANCL):c.-13C>T	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 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 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 336657	NM_001114636.1(FANCL):c.-39A>C	FANCL	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia complementation group L +1 more	GConflicting classifications of pathogenicity
Select item 257492	NM_001114636.1(FANCL):c.-39A>G	FANCL	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia complementation group L +2 more	GBenign/Likely benign
Select item 336658	NM_001114636.1(FANCL):c.-40C>A	FANCL	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia complementation group L	GUncertain significance
Select item 336659	NM_001114636.1(FANCL):c.-44C>T	FANCL	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia complementation group L +1 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 45