"PreventionGenetics, part of Exact Sciences"[submitter] AND "ZNF276"[g - ClinVar

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Items: 31

	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

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Items: 31