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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 366

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58270	GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 321319	NM_000135.4(FANCA):c.*287G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 321321	NM_000135.4(FANCA):c.*252G>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 321323	NM_000135.4(FANCA):c.*154G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A +1 more	GBenign
Select item 1215777	NM_000135.4(FANCA):c.4260+80G>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 255266	NM_000135.4(FANCA):c.4260+29T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +2 more	GBenign
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 complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 408175	NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	FANCA, ZNF276 (R1400H)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1683851	NM_000135.4(FANCA):c.4168-40dup	FANCA, ZNF276	Duplication (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 552509	NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)	FANCA, ZNF276 (T1375fs)	Microsatellite (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 429862	NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)	FANCA, ZNF276 (T1373A)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 321327	NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)	FANCA, ZNF276 (H1355L)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 208638	NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	FANCA, ZNF276 (L1339fs)	Deletion (frameshift variant +2 more)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 280686	NM_000135.4(FANCA):c.4011-1G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1272373	NM_000135.4(FANCA):c.4010+92T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 582405	NM_000135.4(FANCA):c.4010+1_4010+18del	FANCA, ZNF276	Deletion (3 prime UTR variant +2 more)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 623912	NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr)	FANCA, ZNF276 (A1334T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 134278	NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)	FANCA, ZNF276 (T1328A)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +3 more	GBenign
Select item 430085	NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	FANCA, ZNF276 (P1324L)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 408178	NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe)	FANCA, ZNF276 (L1313F)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 237053	NM_000135.4(FANCA):c.3935-9G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 255264	NM_000135.4(FANCA):c.3935-16C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +3 more	GBenign
Select item 1281015	NM_000135.4(FANCA):c.3935-102C>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1804506	NM_000135.4(FANCA):c.3935-145G>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 135540	NM_000135.4(FANCA):c.3934+59G>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 135541	NM_000135.4(FANCA):c.3934+55T>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 553736	NM_000135.4(FANCA):c.3934+2T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 134275	NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)	FANCA, ZNF276 (V1287I)	Single nucleotide variant (missense variant +2 more)	Ovarian cancer +4 more	GBenign/Likely benign
Select item 1272061	NM_000135.4(FANCA):c.3829-107A>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1248622	NM_000135.4(FANCA):c.3829-225C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1289210	NM_000135.4(FANCA):c.3828+251A>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1180388	NM_000135.4(FANCA):c.3828+163_3828+167dup	FANCA, ZNF276	Duplication (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1271949	NM_000135.4(FANCA):c.3828+167del	FANCA, ZNF276	Deletion (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1259354	NM_000135.4(FANCA):c.3828+81G>T	FANCA, LOC132090445 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 556740	NM_000135.4(FANCA):c.3813dup (p.His1272fs)	FANCA, ZNF276 (H1272fs)	Duplication (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 255263	NM_000135.4(FANCA):c.3807G>C (p.Leu1269=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +3 more	GBenign
Select item 41003	NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	FANCA, ZNF276 (F1263del)	Microsatellite (inframe_indel +3 more)	Fanconi anemia +2 more	GPathogenic
Select item 1195312	NM_000135.4(FANCA):c.3766-142T>C	FANCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266161	NM_000135.4(FANCA):c.3766-269C>T	FANCA, LOC132090446	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244369	NM_000135.4(FANCA):c.3765+269A>G	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255262	NM_000135.4(FANCA):c.3765+37G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 1454404	NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)	FANCA (E1255*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 929781	NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)	FANCA (P1222L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 424318	NM_000135.4(FANCA):c.3655G>A (p.Ala1219Thr)	FANCA (A1219T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314709	NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)	FANCA (P1218L)	Inversion (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 255261	NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1699730	NM_000135.4(FANCA):c.3629T>C (p.Phe1210Ser)	FANCA (F1210S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1196499	NM_000135.4(FANCA):c.3627-119C>T	FANCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234234	NM_000135.4(FANCA):c.3627-202G>T	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260917	NM_000135.4(FANCA):c.3627-203T>C	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258193	NM_000135.4(FANCA):c.3626+283dup	FANCA	Duplication (intron variant)	not provided	GBenign
Select item 1296936	NM_000135.4(FANCA):c.3626+274dup	FANCA	Duplication (intron variant)	not provided	GBenign
Select item 1221879	NM_000135.4(FANCA):c.3626+274_3626+275dup	FANCA	Duplication (intron variant)	not provided	GBenign
Select item 1296103	NM_000135.4(FANCA):c.3626+216T>C	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243121	NM_000135.4(FANCA):c.3626+171A>G	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289543	NM_000135.4(FANCA):c.3626+158G>A	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419528	NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3444	NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)	FANCA (R1187fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 321335	NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)	FANCA (R1184P)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1296359	NM_000135.4(FANCA):c.3514-67T>C	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282552	NM_000135.4(FANCA):c.3514-150G>A	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295947	NM_000135.4(FANCA):c.3514-184A>G	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181722	NM_000135.4(FANCA):c.3514-272G>C	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235423	NM_000135.4(FANCA):c.3514-317A>G	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244613	NM_000135.4(FANCA):c.3514-340G>C	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258922	NM_000135.4(FANCA):c.3514-342A>G	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277717	NM_000135.4(FANCA):c.3513+230G>T	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296074	NM_000135.4(FANCA):c.3513+214C>T	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695507	NM_000135.4(FANCA):c.3513+159T>C	FANCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270873	NM_000135.4(FANCA):c.3513+139_3513+140del	FANCA	Microsatellite (intron variant)	not provided	GBenign
Select item 1221262	NM_000135.4(FANCA):c.3513+62C>T	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235986	NM_000135.4(FANCA):c.3513+57G>A	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380321	NM_000135.4(FANCA):c.3468G>A (p.Leu1156=)	FANCA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1380383	NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn)	FANCA (S1145N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 134267	NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)	FANCA (L1143V)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 255259	NM_000135.4(FANCA):c.3408+45G>A	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 255257	NM_000135.4(FANCA):c.3408+33T>C	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 2497937	NM_000135.4(FANCA):c.3399C>G (p.His1133Gln)	FANCA, LOC132090450 (H1133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1067764	NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile)	FANCA, LOC132090450 (T1131I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 237048	NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	FANCA, LOC132090450 (T1131A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 219752	NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	FANCA (R1117G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 1287266	NM_000135.4(FANCA):c.3349-158G>A	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287955	NM_000135.4(FANCA):c.3349-291G>A	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291940	NM_000135.4(FANCA):c.3348+260A>G	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279666	NM_000135.4(FANCA):c.3348+249A>C	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197700	NM_000135.4(FANCA):c.3348+249A>T	FANCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899723	NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)	FANCA (Q1099*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 659766	NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)	FANCA (Q1096H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 134264	NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)	FANCA (S1088F)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign
Select item 255254	NM_000135.4(FANCA):c.3240-42G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 1277229	NM_000135.4(FANCA):c.3240-146G>A	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244775	NM_000135.4(FANCA):c.3240-225_3240-223del	FANCA	Microsatellite (intron variant)	not provided	GBenign
Select item 1276883	NM_000135.4(FANCA):c.3239+357A>G	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229981	NM_000135.4(FANCA):c.3239+339A>G	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229041	NM_000135.4(FANCA):c.3239+314C>T	FANCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 579454	NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val)	FANCA (A1066V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 414839	NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1706294	NM_000135.4(FANCA):c.3112C>T (p.Leu1038Phe)	FANCA (L1038F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255253	NM_000135.4(FANCA):c.3067-4T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 255252	NM_000135.4(FANCA):c.3067-23G>A	FANCA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

<< First< Prev

Page of 4