"Sema4, Sema4"[submitter] AND "ZNF276"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1692229	NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln)	FANCA, ZNF276 (E1451Q)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 696165	NM_000135.4(FANCA):c.4335C>T (p.Asp1445=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 321325	NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1692228	NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)	FANCA, ZNF276 (V1432L)	Single nucleotide variant (non-coding transcript variant +2 more)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 134284	NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)	FANCA, ZNF276 (R1425C)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 414832	NM_001113525.2(ZNF276):c.*470A>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 456128	NM_001113525.2(ZNF276):c.*471G>C	FANCA, ZNF276	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1692227	NM_001113525.2(ZNF276):c.*475A>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia	GUncertain significance
Select item 970090	NM_001113525.2(ZNF276):c.*630C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia	GUncertain significance
Select item 134282	NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	FANCA, ZNF276 (H1417D +1 more)	Single nucleotide variant (missense variant +2 more)	FANCA-related condition +4 more	GConflicting classifications of pathogenicity
Select item 648627	NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)	FANCA, ZNF276 (F1415C)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134283	NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln)	ZNF276, FANCA (R1409Q)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GBenign/Likely benign
Select item 408170	NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)	FANCA, ZNF276 (R1409W +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1692226	NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr)	FANCA, ZNF276 (P1408T +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 997461	NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)	FANCA, ZNF276 (R1394H +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1692225	NM_001113525.2(ZNF276):c.*739A>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia	GUncertain significance
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 134281	NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)	FANCA, ZNF276 (A1346T)	Single nucleotide variant (missense variant +2 more)	not specified +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 1337700	NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu)	FANCA, ZNF276 (F1333L)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 215634	NM_000135.4(FANCA):c.3981C>T (p.His1327=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 456125	NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)	FANCA, ZNF276 (R1321H)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 1692224	NM_000135.4(FANCA):c.3907C>T (p.Leu1303=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia	GLikely benign
Select item 414831	NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)	ZNF276, FANCA	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 887312	NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 526454	NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +4 more	GLikely benign
Select item 695850	NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 526434	NM_000135.4(FANCA):c.3792C>T (p.Ser1264=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +1 more)	FANCA-related condition +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 condition +3 more	GPathogenic

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Items: 29