C3160739[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 904259	NM_021922.3(FANCE):c.-197C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356435	NM_021922.3(FANCE):c.-182G>A	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 904260	NM_021922.3(FANCE):c.-167C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 904261	NM_021922.3(FANCE):c.-162G>C	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356436	NM_021922.3(FANCE):c.-132A>G	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 905052	NM_021922.3(FANCE):c.-126T>A	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356437	NM_021922.3(FANCE):c.-105C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356438	NM_021922.3(FANCE):c.-100C>T	LOC129996245, FANCE	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356439	NM_021922.3(FANCE):c.-56C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GBenign/Likely benign
Select item 905053	NM_021922.3(FANCE):c.-32A>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356440	NM_021922.3(FANCE):c.-19G>C	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356441	NM_021922.3(FANCE):c.4G>C (p.Ala2Pro)	FANCE, LOC129996245 (A2P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 408158	NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)	FANCE, LOC129996245 (A11T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 134331	NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)	FANCE, LOC129996245 (P18S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 906637	NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)	FANCE, LOC129996245 (R41W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 471924	NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)	LOC129996245, FANCE (R69Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +3 more	GConflicting classifications of pathogenicity
Select item 356442	NM_021922.3(FANCE):c.216G>T (p.Pro72=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GConflicting classifications of pathogenicity
Select item 134330	NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)	FANCE, LOC129996245 (P77T)	Single nucleotide variant (missense variant)	FANCE-related condition +4 more	GUncertain significance
Select item 356443	NM_021922.3(FANCE):c.248+7C>A	FANCE, LOC129996245	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 356444	NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)	FANCE (P85S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GConflicting classifications of pathogenicity
Select item 134334	NM_021922.3(FANCE):c.266G>T (p.Arg89Leu)	FANCE (R89L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 471926	NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)	FANCE (R92W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 907662	NM_021922.3(FANCE):c.387A>T (p.Pro129=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 261435	NM_021922.3(FANCE):c.387A>C (p.Pro129=)	FANCE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 408156	NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)	FANCE (L133F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 408154	NM_021922.3(FANCE):c.400C>T (p.Arg134Cys)	FANCE (R134C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356445	NM_021922.3(FANCE):c.480C>A (p.Cys160Ter)	FANCE (C160*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GUncertain significance
Select item 907663	NM_021922.3(FANCE):c.508G>T (p.Gly170Trp)	FANCE (G170W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356446	NM_021922.3(FANCE):c.552A>C (p.Pro184=)	FANCE	Single nucleotide variant (synonymous variant)	FANCE-related condition +1 more	GConflicting classifications of pathogenicity
Select item 134333	NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)	FANCE (S204L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 356447	NM_021922.3(FANCE):c.696G>A (p.Glu232=)	FANCE	Single nucleotide variant (synonymous variant)	FANCE-related condition +3 more	GConflicting classifications of pathogenicity
Select item 356448	NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)	FANCE (L288F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 134336	NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)	FANCE (P310Q)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex +2 more	GConflicting classifications of pathogenicity
Select item 904331	NM_021922.3(FANCE):c.937C>T (p.Leu313=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GConflicting classifications of pathogenicity
Select item 356449	NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)	FANCE (L326W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GConflicting classifications of pathogenicity
Select item 356450	NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro)	FANCE (L336P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 134340	NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)	FANCE (G340R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 134341	NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln)	FANCE (R343Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 261432	NM_021922.3(FANCE):c.1071C>T (p.Leu357=)	FANCE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 134338	NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)	FANCE (R365S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GConflicting classifications of pathogenicity
Select item 566449	NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	FANCE (R371W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 905131	NM_021922.3(FANCE):c.1113+6T>C	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 414826	NM_021922.3(FANCE):c.1116C>T (p.Ile372=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 905132	NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)	FANCE (S377F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 905133	NM_021922.3(FANCE):c.1263T>C (p.Cys421=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GConflicting classifications of pathogenicity
Select item 356451	NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp)	FANCE (E430D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 414821	NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)	FANCE (M437T)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 906715	NM_021922.3(FANCE):c.1317-11C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E +1 more	GConflicting classifications of pathogenicity
Select item 134343	NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)	FANCE (P445S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 356452	NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)	FANCE (R460W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356453	NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg)	FANCE (K475R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 134345	NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)	FANCE (A502T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 134344	NM_021922.3(FANCE):c.1509C>T (p.Asn503=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GBenign/Likely benign
Select item 210981	NM_021922.3(FANCE):c.1510-11C>T	FANCE	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 221002	NM_021922.3(FANCE):c.1572G>A (p.Arg524=)	FANCE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 356454	NM_021922.3(FANCE):c.1593G>A (p.Leu531=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GConflicting classifications of pathogenicity
Select item 907726	NM_021922.3(FANCE):c.*63C>T	FANCE	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356455	NM_021922.3(FANCE):c.*151A>G	FANCE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 907727	NM_021922.3(FANCE):c.*213T>A	FANCE	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 907728	NM_021922.3(FANCE):c.*225T>C	FANCE	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356457	NM_021922.3(FANCE):c.*322C>T	FANCE	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356458	NM_021922.3(FANCE):c.*401G>C	FANCE	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 62