"GeneDx"[submitter] AND "FANCI"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 1243727	NM_001113378.2(FANCI):c.-19-149A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216369	NM_001113378.2(FANCI):c.84+114G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187898	NM_001113378.2(FANCI):c.84+131A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209047	NM_001113378.2(FANCI):c.84+150A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212971	NM_001113378.2(FANCI):c.84+235A>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179426	NM_001113378.2(FANCI):c.85-258G>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289279	NM_001113378.2(FANCI):c.85-214A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290143	NM_001113378.2(FANCI):c.85-206A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293863	NM_001113378.2(FANCI):c.158-213G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278445	NM_001113378.2(FANCI):c.158-121G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273092	NM_001113378.2(FANCI):c.158-42G>T	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257480	NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu)	FANCI (P55L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +3 more	GBenign
Select item 1326598	NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile)	FANCI (T70I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 257484	NM_001113378.2(FANCI):c.257C>T (p.Ala86Val)	FANCI (A86V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +3 more	GBenign
Select item 257486	NM_001113378.2(FANCI):c.288+37G>A	FANCI	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1207114	NM_001113378.2(FANCI):c.289-319G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260241	NM_001113378.2(FANCI):c.289-306dup	FANCI	Duplication (intron variant)	not provided	GBenign
Select item 1187155	NM_001113378.2(FANCI):c.289-163T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450812	NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp)	FANCI (N110D +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1194434	NM_001113378.2(FANCI):c.419A>G (p.Lys140Arg)	FANCI (K140R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271128	NM_001113378.2(FANCI):c.503+81_503+82dup	FANCI	Duplication (intron variant)	not provided	GBenign
Select item 1190521	NM_001113378.2(FANCI):c.503+203A>T	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228728	NM_001113378.2(FANCI):c.503+221G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257490	NM_001113378.2(FANCI):c.545+19C>T	FANCI	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 257491	NM_001113378.2(FANCI):c.545+30G>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +2 more	GBenign
Select item 1210472	NM_001113378.2(FANCI):c.546-99T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259113	NM_001113378.2(FANCI):c.669+103G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210862	NM_001113378.2(FANCI):c.670-227G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 238330	NM_001113378.2(FANCI):c.753C>T (p.Asp251=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +2 more	GConflicting classifications of pathogenicity
Select item 1219061	NM_001113378.2(FANCI):c.755+215C>G	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191633	NM_001113378.2(FANCI):c.756-313A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804456	NM_001113378.2(FANCI):c.756-248A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212399	NM_001113378.2(FANCI):c.756-164T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280898	NM_001113378.2(FANCI):c.756-148T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804585	NM_001113378.2(FANCI):c.756-134T>G	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273564	NM_001113378.2(FANCI):c.756-87G>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449021	NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)	FANCI (I275T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GConflicting classifications of pathogenicity
Select item 317267	NM_001113378.2(FANCI):c.868G>A (p.Val290Met)	FANCI (V290M +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GBenign
Select item 1192957	NM_001113378.2(FANCI):c.882+139dup	FANCI	Duplication (intron variant)	not provided	GLikely benign
Select item 1227256	NM_001113378.2(FANCI):c.882+139del	FANCI	Deletion (intron variant)	not provided	GBenign
Select item 1293862	NM_001113378.2(FANCI):c.883-67del	FANCI	Deletion (intron variant)	not provided	GBenign
Select item 1226534	NM_001113378.2(FANCI):c.883-51del	FANCI	Deletion (intron variant)	not provided	GBenign
Select item 1274900	NM_001113378.2(FANCI):c.883-50_883-46del	FANCI	Deletion (intron variant)	not provided	GBenign
Select item 1214634	NM_001113378.2(FANCI):c.883-50_883-47del	FANCI	Deletion (intron variant)	not provided	GLikely benign
Select item 1263934	NM_001113378.2(FANCI):c.883-50G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291914	NM_001113378.2(FANCI):c.975+42T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291315	NM_001113378.2(FANCI):c.975+66dup	FANCI	Duplication (intron variant)	not provided	GBenign
Select item 1282425	NM_001113378.2(FANCI):c.975+42del	FANCI	Deletion (intron variant)	not provided	GBenign
Select item 1251203	NM_001113378.2(FANCI):c.975+64_975+66dup	FANCI	Duplication (intron variant)	not provided	GBenign
Select item 1275135	NM_001113378.2(FANCI):c.975+65_975+66del	FANCI	Deletion (intron variant)	not provided	GBenign
Select item 1272552	NM_001113378.2(FANCI):c.975+64_975+66del	FANCI	Deletion (intron variant)	not provided	GBenign
Select item 1266368	NM_001113378.2(FANCI):c.975+66del	FANCI	Deletion (intron variant)	not provided	GBenign
Select item 1244751	NM_001113378.2(FANCI):c.975+43A>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211313	NM_001113378.2(FANCI):c.975+43A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217407	NM_001113378.2(FANCI):c.975+44A>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223604	NM_001113378.2(FANCI):c.975+255A>T	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236261	NM_001113378.2(FANCI):c.975+286_975+288del	FANCI	Microsatellite (intron variant)	not provided	GBenign
Select item 1210516	NM_001113378.2(FANCI):c.976-225T>A	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191675	NM_001113378.2(FANCI):c.976-112T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 886652	NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)	FANCI (Q351L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1280968	NM_001113378.2(FANCI):c.1112+154G>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 317271	NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile)	FANCI (V372I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GBenign
Select item 646018	NM_001113378.2(FANCI):c.1250A>G (p.His417Arg)	FANCI (H417R +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1277349	NM_001113378.2(FANCI):c.1294-285A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230455	NM_001113378.2(FANCI):c.1294-186G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278315	NM_001113378.2(FANCI):c.1294-89A>G	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 317274	NM_001113378.2(FANCI):c.1294-8C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GBenign
Select item 317276	NM_001113378.2(FANCI):c.1326G>A (p.Glu442=)	FANCI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 424190	NM_001113378.2(FANCI):c.1355C>T (p.Ala452Val)	FANCI (A452V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224919	NM_001113378.2(FANCI):c.1382-143A>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 238308	NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)	FANCI (V467I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GUncertain significance
Select item 408243	NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg)	FANCI (P471R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 408247	NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)	FANCI (Y487* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 1243460	NM_001113378.2(FANCI):c.1513-152C>T	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220900	NM_001113378.2(FANCI):c.1513-52C>G	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 435166	NM_001113378.2(FANCI):c.1534T>G (p.Ser512Ala)	FANCI (S512A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 238309	NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)	FANCI (M525V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GConflicting classifications of pathogenicity
Select item 1231044	NM_001113378.2(FANCI):c.1583+87G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3019535	NM_001113378.2(FANCI):c.1593T>C (p.Asp531=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 257481	NM_001113378.2(FANCI):c.1698+15C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +3 more	GBenign
Select item 1265559	NM_001113378.2(FANCI):c.1698+265A>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213370	NM_001113378.2(FANCI):c.1699-274G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1062607	NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly)	FANCI (E488G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 456197	NM_001113378.2(FANCI):c.1810A>G (p.Met604Val)	FANCI (M604V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 210985	NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	FANCI (L605F +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +4 more	GBenign/Likely benign
Select item 1263267	NM_001113378.2(FANCI):c.1821+51del	FANCI	Deletion (intron variant)	not provided	GBenign
Select item 1241062	NM_001113378.2(FANCI):c.1821+133G>T	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268919	NM_001113378.2(FANCI):c.1822-279T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272989	NM_001113378.2(FANCI):c.1822-156T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317082	NM_001113378.2(FANCI):c.1822-8C>A	FANCI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1188691	NM_001113378.2(FANCI):c.1890+48G>A	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804493	NM_001113378.2(FANCI):c.1891-261T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 317282	NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)	FANCI (F634I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 1210494	NM_001113378.2(FANCI):c.1992+80T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 317284	NM_001113378.2(FANCI):c.2028C>T (p.Ala676=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GBenign
Select item 1317034	NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro)	FANCI (T588P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 456204	NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly)	FANCI (D728G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 456205	NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val)	FANCI (I735V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 257482	NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser)	FANCI (C742S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GBenign

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