"PreventionGenetics, part of Exact Sciences"[submitter] AND "FANCA"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1015858	NM_000135.4(FANCA):c.4350G>A (p.Gln1450=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +1 more	GLikely benign
Select item 255268	NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 571744	NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)	FANCA, ZNF276 (A1442G)	Single nucleotide variant (missense variant +2 more)	FANCA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 414830	NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)	FANCA, ZNF276 (A1435T)	Single nucleotide variant (missense variant +2 more)	FANCA-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3029814	NM_001113525.2(ZNF276):c.*485C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	FANCA-related disorder	GLikely benign
Select item 255266	NM_001113525.2(ZNF276):c.*607A>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 134282	NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	ZNF276, FANCA (H1417D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1337013	NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn)	FANCA, ZNF276 (S1414N)	Single nucleotide variant (missense variant +3 more)	FANCA-related disorder +2 more	GUncertain significance
Select item 255265	NM_001113525.2(ZNF276):c.*841G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2630461	NM_000135.4(FANCA):c.4109C>T (p.Ala1370Val)	FANCA, ZNF276 (A1370V)	Single nucleotide variant (missense variant +2 more)	FANCA-related disorder	GUncertain significance
Select item 1338313	NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)	FANCA, ZNF276 (Q1366*)	Single nucleotide variant (nonsense +2 more)	FANCA-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 582405	NM_000135.4(FANCA):c.4010+1_4010+18del	FANCA, ZNF276	Deletion (3 prime UTR variant +2 more)	FANCA-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 704353	NM_001113525.2(ZNF276):c.*1223T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	FANCA-related disorder +1 more	GLikely benign
Select item 134278	NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)	FANCA, ZNF276 (T1328A)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +3 more	GBenign
Select item 1095123	NM_000135.4(FANCA):c.3945G>C (p.Leu1315=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +1 more	GLikely benign
Select item 321330	NM_001113525.2(ZNF276):c.*1313A>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 237053	NM_001113525.2(ZNF276):c.*1316C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	FANCA-related disorder +4 more	GBenign/Likely benign
Select item 255264	NM_001113525.2(ZNF276):c.*1323G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +3 more	GBenign
Select item 1322873	NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)	FANCA, ZNF276	Microsatellite (nonsense +2 more)	Fanconi anemia +2 more	GPathogenic
Select item 134275	NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)	FANCA, ZNF276 (V1287I)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer +4 more	GBenign/Likely benign
Select item 701241	NM_000135.4(FANCA):c.3858C>T (p.His1286=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	FANCA-related disorder +1 more	GLikely benign
Select item 974270	NM_000135.4(FANCA):c.3828+2dup	FANCA, LOC132090445 +1 more	Duplication (3 prime UTR variant +2 more)	FANCA-related disorder	GUncertain significance
Select item 456123	NM_000135.4(FANCA):c.3828+1G>C	LOC132090445, ZNF276 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +2 more	GPathogenic
Select item 526454	NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group A +4 more	GLikely benign
Select item 255263	NM_000135.4(FANCA):c.3807G>C (p.Leu1269=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1099364	NM_000135.4(FANCA):c.3805C>T (p.Leu1269=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +1 more	GLikely benign
Select item 695850	NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 526434	NM_000135.4(FANCA):c.3792C>T (p.Ser1264=)	ZNF276, FANCA	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +1 more	GLikely benign
Select item 41003	NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	FANCA, ZNF276 (F1263del)	Microsatellite (inframe_deletion +2 more)	FANCA-related disorder +3 more	GPathogenic
Select item 456122	NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del)	FANCA, ZNF276	Deletion (inframe_deletion +1 more)	FANCA-related disorder +1 more	GUncertain significance
Select item 1129180	NM_000135.4(FANCA):c.3768A>G (p.Leu1256=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +1 more	GLikely benign
Select item 255262	NM_000135.4(FANCA):c.3765+37G>A	FANCA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 963048	NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala)	FANCA (E1255A)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 526323	NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)	FANCA (Q1245K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 698031	NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 697899	NM_000135.4(FANCA):c.3693C>T (p.His1231=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 456119	NM_000135.4(FANCA):c.3669C>T (p.Asp1223=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related disorder +3 more	GLikely benign
Select item 2630758	NM_000135.4(FANCA):c.3662A>T (p.Asn1221Ile)	FANCA (N1221I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 255261	NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 808164	NM_000135.4(FANCA):c.3626+4C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 419528	NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 1654028	NM_000135.4(FANCA):c.3612G>A (p.Arg1204=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 255260	NM_000135.4(FANCA):c.3591G>A (p.Leu1197=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 134271	NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)	FANCA (R1195Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134269	NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	FANCA (R1195W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3444	NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)	FANCA (R1187fs)	Duplication (frameshift variant)	Fanconi anemia +3 more	GPathogenic
Select item 321335	NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)	FANCA (R1184P)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 134268	NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)	FANCA (P1175L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +4 more	GConflicting classifications of pathogenicity
Select item 2873025	NM_000135.4(FANCA):c.3456C>T (p.Val1152=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 3036993	NM_000135.4(FANCA):c.3445T>C (p.Ser1149Pro)	FANCA (S1149P)	Single nucleotide variant (missense variant)	FANCA-related disorder	GUncertain significance
Select item 408171	NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	FANCA (R1144W)	Single nucleotide variant (missense variant)	FANCA-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 134267	NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)	FANCA (L1143V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1164137	NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +4 more	GBenign/Likely benign
Select item 1104933	NM_000135.4(FANCA):c.3409-9C>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 255259	NM_000135.4(FANCA):c.3408+45G>A	FANCA, LOC132090450	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 255258	NM_000135.4(FANCA):c.3408+42G>A	FANCA, LOC132090450	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255257	NM_000135.4(FANCA):c.3408+33T>C	FANCA, LOC132090450	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 698322	NM_000135.4(FANCA):c.3408+9C>G	FANCA, LOC132090450	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 3032661	NM_000135.4(FANCA):c.3357C>G (p.Phe1119Leu)	FANCA (F1119L)	Single nucleotide variant (missense variant)	FANCA-related disorder	GUncertain significance
Select item 550696	NM_000135.4(FANCA):c.3349-3C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 255256	NM_000135.4(FANCA):c.3348+29C>T	FANCA	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 255255	NM_000135.4(FANCA):c.3348+18A>G	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 321339	NM_000135.4(FANCA):c.3348+7G>T	FANCA	Single nucleotide variant (intron variant)	FANCA-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 553239	NM_000135.4(FANCA):c.3348+1G>A	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A +3 more	GPathogenic
Select item 1092331	NM_000135.4(FANCA):c.3279C>T (p.Ser1093=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 321340	NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)	FANCA (V1089I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 134264	NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)	FANCA (S1088F)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 255254	NM_000135.4(FANCA):c.3240-42G>A	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 972606	NM_000135.4(FANCA):c.3215A>G (p.Gln1072Arg)	FANCA (Q1072R)	Single nucleotide variant (missense variant)	FANCA-related disorder +1 more	GUncertain significance
Select item 696565	NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 414839	NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3036247	NM_000135.4(FANCA):c.3165G>A (p.Arg1055=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related disorder	GLikely benign
Select item 974257	NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)	FANCA (R1055Q)	Single nucleotide variant (missense variant)	FANCA-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 555008	NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	FANCA (R1055W)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 408176	NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	FANCA (D1033E)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 255253	NM_000135.4(FANCA):c.3067-4T>C	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255252	NM_000135.4(FANCA):c.3067-23G>A	FANCA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1724153	NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)	FANCA (Y998*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 237046	NM_000135.4(FANCA):c.2994T>C (p.Tyr998=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 237045	NM_000135.4(FANCA):c.2981+4dup	FANCA	Duplication (intron variant)	FANCA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 134263	NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)	FANCA (Q993K)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 408197	NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)	FANCA (D990N)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GUncertain significance
Select item 2633213	NM_000135.4(FANCA):c.2957del (p.Asn986fs)	FANCA (N986fs)	Deletion (frameshift variant)	FANCA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 255251	NM_000135.4(FANCA):c.2901C>T (p.Ser967=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1128852	NM_000135.4(FANCA):c.2859C>T (p.Asp953=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 376974	NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)	FANCA (D953E)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 1131403	NM_000135.4(FANCA):c.2820A>G (p.Gln940=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related disorder +1 more	GLikely benign
Select item 255250	NM_000135.4(FANCA):c.2779-7T>C	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 647752	NM_000135.4(FANCA):c.2739_2740del (p.His913fs)	FANCA (H913fs)	Microsatellite (frameshift variant)	FANCA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1337460	NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)	FANCA (T912I)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1155911	NM_000135.4(FANCA):c.2700T>G (p.Ser900=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related disorder +1 more	GLikely benign
Select item 456101	NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	FANCA, LOC130059837 (E886D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 255247	NM_000135.4(FANCA):c.2602-19G>C	FANCA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 255248	NM_000135.4(FANCA):c.2602-36G>T	FANCA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 255249	NM_000135.4(FANCA):c.2602-46T>A	FANCA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 974145	NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn)	FANCA (K867N)	Single nucleotide variant (missense variant)	FANCA-related disorder +1 more	GUncertain significance
Select item 456098	NM_000135.4(FANCA):c.2589C>A (p.Gly863=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 134256	NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	FANCA (S858R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +4 more	GBenign/Likely benign
Select item 134258	NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)	FANCA (L856S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 456096	NM_000135.4(FANCA):c.2502G>A (p.Leu834=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +2 more	GLikely benign

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