"Sema4, Sema4"[submitter] AND "FANCA"[gene] - ClinVar - NCBI

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	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)	Fanconi anemia +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 (missense variant +2 more)	Fanconi anemia +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 (3 prime UTR 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)	Fanconi anemia +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)	Fanconi anemia +2 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 408170	NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)	FANCA, ZNF276 (R1409W +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +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)	ZNF276, FANCA (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)	Fanconi anemia +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 +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=)	FANCA, ZNF276	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)	FANCA-related disorder +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)	Fanconi anemia +3 more	GPathogenic
Select item 526323	NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)	FANCA (Q1245K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 565678	NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)	FANCA (A1215D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1136746	NM_000135.4(FANCA):c.3639T>C (p.Pro1213=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 808164	NM_000135.4(FANCA):c.3626+4C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 1692222	NM_000135.4(FANCA):c.3610C>G (p.Arg1204Gly)	FANCA (R1204G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1006385	NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly)	FANCA (E1202G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
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 321335	NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)	FANCA (R1184P)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1415579	NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu)	FANCA (V1180L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
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 526451	NM_000135.4(FANCA):c.3514-4A>G	FANCA	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 321337	NM_000135.4(FANCA):c.3514-13G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 1692221	NM_000135.4(FANCA):c.3513+4G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 408171	NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	FANCA (R1144W)	Single nucleotide variant (missense variant)	FANCA-related disorder +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 specified +4 more	GConflicting classifications of pathogenicity
Select item 134265	NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)	FANCA (L1138V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1692220	NM_000135.4(FANCA):c.3408+6A>T	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 1692219	NM_000135.4(FANCA):c.3404T>G (p.Phe1135Cys)	LOC132090450, FANCA (F1135C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 237048	NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	LOC132090450, FANCA (T1131A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 550696	NM_000135.4(FANCA):c.3349-3C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 1692216	NM_000135.4(FANCA):c.3349-11C>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 255255	NM_000135.4(FANCA):c.3348+18A>G	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 321339	NM_000135.4(FANCA):c.3348+7G>T	FANCA	Single nucleotide variant (intron variant)	FANCA-related disorder +4 more	GConflicting classifications of pathogenicity
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 696565	NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 972555	NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)	FANCA (G1062R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GUncertain significance
Select item 414839	NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 408187	NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)	FANCA (S1061G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GUncertain significance
Select item 456109	NM_000135.4(FANCA):c.3168C>T (p.Leu1056=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1692215	NM_000135.4(FANCA):c.3156C>T (p.Phe1052=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 321341	NM_000135.4(FANCA):c.3138C>T (p.His1046=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 574581	NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser)	FANCA (G1039S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 321342	NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 408176	NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	FANCA (D1033E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1692214	NM_000135.4(FANCA):c.3091del (p.Gln1031fs)	FANCA (Q1031fs)	Deletion (frameshift variant)	Fanconi anemia	GLikely pathogenic
Select item 1692213	NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys)	FANCA (S1019C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1692212	NM_000135.4(FANCA):c.3018G>T (p.Leu1006Phe)	FANCA (L1006F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
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 321343	NM_000135.4(FANCA):c.2958C>T (p.Asn986=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1420075	NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu)	FANCA (D974E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 376974	NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)	FANCA (D953E)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1057210	NM_000135.4(FANCA):c.2842G>C (p.Asp948His)	FANCA (D948H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 188383	NM_000135.4(FANCA):c.2839dup (p.Ser947fs)	FANCA (S947fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 237043	NM_000135.4(FANCA):c.2799A>G (p.Leu933=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1089359	NM_000135.4(FANCA):c.2778+83C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 1692211	NM_000135.4(FANCA):c.2755G>A (p.Val919Met)	FANCA (V919M)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1155911	NM_000135.4(FANCA):c.2700T>G (p.Ser900=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related disorder +1 more	GLikely benign
Select item 1692210	NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile)	FANCA, LOC130059837 (S890I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 580508	NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn)	FANCA, LOC130059837 (S890N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1665233	NM_000135.4(FANCA):c.2667C>T (p.Ala889=)	FANCA, LOC130059837	Single nucleotide variant (synonymous variant)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 456101	NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	FANCA, LOC130059837 (E886D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 555460	NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	FANCA, LOC130059837 (R880Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 456099	NM_000135.4(FANCA):c.2637C>T (p.Ala879=)	FANCA, LOC130059837	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1056321	NM_000135.4(FANCA):c.2622A>G (p.Arg874=)	FANCA, LOC130059837	Single nucleotide variant (synonymous variant)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 1568102	NM_000135.4(FANCA):c.2602-8T>C	FANCA, LOC130059837	Single nucleotide variant (intron variant)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 456098	NM_000135.4(FANCA):c.2589C>A (p.Gly863=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 134256	NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	FANCA (S858R)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GBenign/Likely benign
Select item 798957	NM_000135.4(FANCA):c.2529C>T (p.Tyr843=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1692209	NM_000135.4(FANCA):c.2502G>T (p.Leu834=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 255246	NM_000135.4(FANCA):c.2391G>A (p.Ala797=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 526333	NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)	FANCA (A797V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1489534	NM_000135.4(FANCA):c.2365G>A (p.Val789Met)	FANCA (V789M)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 414837	NM_000135.4(FANCA):c.2364C>T (p.Ala788=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related disorder +3 more	GBenign/Likely benign
Select item 1692208	NM_000135.4(FANCA):c.2316+6G>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 1692207	NM_000135.4(FANCA):c.2248G>C (p.Val750Leu)	FANCA (V750L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 321349	NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)	FANCA (A746S)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GBenign/Likely benign
Select item 1692206	NM_000135.4(FANCA):c.2223-8C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 526500	NM_000135.4(FANCA):c.2222+9G>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 134253	NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)	FANCA (P739L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 321350	NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly)	FANCA (S735G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance

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