"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "FANCA"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 414830	NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)	FANCA, ZNF276 (A1435T)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 1693688	NM_000135.4(FANCA):c.4301C>T (p.Ala1434Val)	FANCA, ZNF276 (A1434V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 414832	NM_000135.4(FANCA):c.4261-8T>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1018645	NM_000135.4(FANCA):c.4105G>A (p.Val1369Met)	FANCA, ZNF276 (V1369M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 219753	NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)	FANCA, ZNF276 (A1357fs)	Deletion (frameshift variant +2 more)	Fanconi anemia +2 more	GPathogenic
Select item 1447545	NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)	FANCA, ZNF276 (A1346V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134280	NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	FANCA, ZNF276 (L1339F)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 321330	NM_000135.4(FANCA):c.3935-6T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 526419	NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)	FANCA, ZNF276 (A1284T)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 408204	NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)	FANCA, ZNF276 (A1284P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 526323	NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)	FANCA (Q1245K)	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)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 321335	NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)	FANCA (R1184P)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 237050	NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)	FANCA (C1159S)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 134267	NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)	FANCA (L1143V)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 1104933	NM_000135.4(FANCA):c.3409-9C>G	FANCA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 237048	NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	FANCA, LOC132090450 (T1131A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 376775	NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly)	FANCA (E1115G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1163597	NM_000135.4(FANCA):c.3240-11C>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 408205	NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)	FANCA (R1053C)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 408176	NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	FANCA (D1033E)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 237045	NM_000135.4(FANCA):c.2981+4dup	FANCA	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1138625	NM_000135.4(FANCA):c.2778+7_2778+36del	FANCA	Deletion (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 321346	NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr)	FANCA (C857Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 1118397	NM_000135.4(FANCA):c.2504+10T>G	FANCA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163993	NM_000135.4(FANCA):c.2316+13T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 526342	NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)	FANCA (R756P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 568853	NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys)	FANCA (E712K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1644971	NM_000135.4(FANCA):c.2014+12T>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 265136	NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	FANCA (C625S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2683407	NM_000135.4(FANCA):c.1777-3C>G	FANCA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1142902	NM_000135.4(FANCA):c.1716-10T>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 556608	NM_000135.4(FANCA):c.1566+2C>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 255234	NM_000135.4(FANCA):c.1471-12A>G	FANCA	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 652450	NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)	FANCA (R487W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887496	NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)	FANCA (V384F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1693690	NM_000135.4(FANCA):c.1048_1049delinsGT (p.Arg350Val)	FANCA (R350V)	Indel (missense variant)	not provided	GUncertain significance
Select item 2068734	NM_000135.4(FANCA):c.1007-3C>A	FANCA	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1163994	NM_000135.4(FANCA):c.893+19C>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 237058	NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)	FANCA (S290Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 134238	NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)	FANCA (Q286R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 974201	NM_000135.4(FANCA):c.851dup (p.Val285fs)	FANCA (V253fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 371093	NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)	FANCA (Q271* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 134292	NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)	FANCA (R255del +1 more)	Microsatellite (inframe_deletion)	Fanconi anemia +2 more	GUncertain significance
Select item 134291	NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)	FANCA (D220S +1 more)	Indel (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 852417	NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)	FANCA (A231S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 321369	NM_000135.4(FANCA):c.577C>G (p.Leu193Val)	FANCA (L193V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 1705964	NM_000135.4(FANCA):c.443del (p.Leu148fs)	FANCA (L148fs)	Deletion (frameshift variant +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 550541	NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	FANCA, LOC112486223 (W22*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 554309	NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	FANCA, LOC112486223 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1163995	NM_000135.3(FANCA):c.-33G>A	FANCA, LOC112486223	Single nucleotide variant	not provided	GUncertain significance

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Items: 51