"ITMI"[submitter] AND "FANCA"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134285	NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)	FANCA, ZNF276 (R1439T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 134284	NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)	FANCA, ZNF276 (R1425C)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GUncertain significance
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 134283	NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln)	FANCA, ZNF276 (R1409Q)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign/Likely benign
Select item 134281	NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)	FANCA, ZNF276 (A1346T)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 134280	NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	FANCA, ZNF276 (L1339F)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134279	NM_000135.4(FANCA):c.3983C>T (p.Thr1328Ile)	FANCA, ZNF276 (T1328I)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
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 135539	NM_001113525.2(ZNF276):c.*1674G>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GLikely benign
Select item 135540	NM_001113525.2(ZNF276):c.*1689C>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 135541	NM_001113525.2(ZNF276):c.*1693A>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 134274	NM_000135.4(FANCA):c.3857A>C (p.His1286Pro)	FANCA, ZNF276 (H1286P)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GLikely benign
Select item 134273	NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)	FANCA, ZNF276	Deletion (frameshift variant +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
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 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 134270	NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)	FANCA (V1180M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
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 134267	NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)	FANCA (L1143V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 134266	NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)	FANCA (A1141D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 134265	NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)	FANCA (L1138V)	Single nucleotide variant (missense variant)	Fanconi anemia +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 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 134261	NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)	FANCA (T982A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 134262	NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)	FANCA (D953E)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 134259	NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)	FANCA (D902E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GUncertain significance
Select item 134260	NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys)	FANCA, LOC130059837 (R894K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 134257	NM_000135.4(FANCA):c.2568G>C (p.Leu856Phe)	FANCA (L856F)	Single nucleotide variant (missense variant)	not specified	Gnot provided
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 134255	NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)	FANCA (A840G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 134254	NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)	FANCA (G809D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 134253	NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)	FANCA (P739L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 134252	NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)	FANCA (M717I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 134251	NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)	FANCA (K701E)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 134250	NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)	FANCA (N691S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 134249	NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)	FANCA (R670C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 134248	NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg)	FANCA (P643R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 134247	NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala)	FANCA (P643A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 134246	NM_000135.4(FANCA):c.1861del (p.Tyr621fs)	FANCA (Y621fs)	Deletion (frameshift variant)	not specified	Gnot provided
Select item 134245	NM_000135.4(FANCA):c.1625A>T (p.Glu542Val)	FANCA (E542V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 134243	NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp)	FANCA (R517W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 134244	NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	FANCA (G501S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 134242	NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)	FANCA (A412V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 134241	NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)	FANCA (R350Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 134240	NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)	FANCA (I311T)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 134239	NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)	FANCA (E288* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +3 more	GPathogenic
Select item 134238	NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)	FANCA (Q286R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 134294	NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)	FANCA (T266A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 134292	NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)	FANCA (R255del +1 more)	Microsatellite (inframe_deletion)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 134293	NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)	FANCA (D252G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
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 134290	NM_000135.4(FANCA):c.679C>G (p.His227Asp)	FANCA (H227D +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 134289	NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)	FANCA (S208L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 134288	NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)	FANCA (L185I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 134287	NM_000135.4(FANCA):c.542C>T (p.Ala181Val)	FANCA (A181V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 134286	NM_000135.4(FANCA):c.480G>A (p.Met160Ile)	FANCA (M160I)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 134276	NM_000135.4(FANCA):c.370A>T (p.Ile124Phe)	FANCA (I124F)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134277	NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)	FANCA (S103L)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 135542	NM_000135.4(FANCA):c.80-13C>T	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134236	NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)	FANCA, LOC112486223 (N8K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 134237	NM_000135.4(FANCA):c.17T>A (p.Val6Asp)	FANCA, LOC112486223 (V6D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign

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Items: 63