"ITMI"[submitter] AND "ZNF276"[gene] - ClinVar - NCBI

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Items: 15

	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