"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FANCA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 888503	NM_000135.4(FANCA):c.*144G>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 558234	NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs)	FANCA, ZNF276 (P1444fs)	Deletion (frameshift variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
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 134285	NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)	FANCA, ZNF276 (R1439T)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +2 more	GUncertain significance
Select item 1692228	NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)	FANCA, ZNF276 (V1432L)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 321326	NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)	FANCA, ZNF276 (R1425H)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +2 more	GUncertain significance
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 864303	NM_000135.4(FANCA):c.4261-2A>G	ZNF276, FANCA	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 846970	NM_000135.4(FANCA):c.4260+6G>T	ZNF276, FANCA	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 579204	NM_000135.4(FANCA):c.4260+6G>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1088729	NM_000135.4(FANCA):c.4251C>T (p.His1417=)	FANCA, ZNF276 (R1419C)	Single nucleotide variant (synonymous variant +3 more)	not provided +2 more	GLikely benign
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 554240	NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)	FANCA, ZNF276 (P1411L)	Single nucleotide variant (missense variant +3 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 1415345	NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe)	FANCA, ZNF276 (L1406F +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 554887	NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	FANCA, ZNF276 (R1400C +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 864280	NM_000135.4(FANCA):c.4168-2A>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GPathogenic
Select item 1043138	NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr)	FANCA, ZNF276 (R1382T)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1063615	NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)	FANCA, ZNF276 (P1378L)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 836782	NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile)	FANCA, ZNF276 (S1374I)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	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 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 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 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 657637	NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)	ZNF276, FANCA (R1321C)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 321329	NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)	FANCA, ZNF276 (R1317Q)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 974357	NM_000135.4(FANCA):c.3920del (p.Gln1307fs)	FANCA, ZNF276 (Q1307fs)	Deletion (frameshift variant +2 more)	Fanconi anemia +1 more	GPathogenic
Select item 858596	NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)	FANCA, ZNF276 (Q1307fs)	Duplication (frameshift variant +2 more)	Fanconi anemia +1 more	GPathogenic
Select item 414831	NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)	ZNF276, FANCA	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 558628	NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)	FANCA, ZNF276 (L1295*)	Single nucleotide variant (nonsense +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 966345	NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn)	FANCA, ZNF276 (D1280N)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 1147511	NM_000135.4(FANCA):c.3822C>A (p.Thr1274=)	ZNF276, FANCA	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +1 more	GLikely benign
Select item 665807	NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)	FANCA, ZNF276 (L1273V)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GUncertain significance
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 526454	NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia complementation group A +3 more	GLikely benign
Select item 1066827	NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)	FANCA, ZNF276 (S1264del)	Deletion (inframe_deletion +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 370466	NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)	FANCA (E1254fs)	Microsatellite (frameshift variant)	See cases +1 more	GPathogenic
Select item 526323	NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)	FANCA (Q1245K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 408189	NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln)	FANCA (E1240Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 216278	NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)	FANCA (Q1235E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 408201	NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)	FANCA (A1233V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 971638	NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)	FANCA (A1233T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
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 526331	NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)	FANCA (P1213A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 1441828	NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe)	FANCA (S1212F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 579823	NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)	FANCA (S1212fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 733784	NM_000135.4(FANCA):c.3630C>T (p.Phe1210=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 1115116	NM_000135.4(FANCA):c.3627-9C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 1160114	NM_000135.4(FANCA):c.3627-17C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 808164	NM_000135.4(FANCA):c.3626+4C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 1053079	NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)	FANCA (R1204W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 884349	NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)	FANCA (P1192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 968886	NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)	FANCA (R1186G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1512624	NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln)	FANCA (R1184Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 642961	NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)	FANCA (R1184W)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 134270	NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)	FANCA (V1180M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 983704	NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)	FANCA (L1167*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 237050	NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)	FANCA (C1159S)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 408171	NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	FANCA (R1144W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1164137	NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 134265	NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)	FANCA (L1138V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 1594234	NM_000135.4(FANCA):c.3409-18C>T	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1576722	NM_000135.4(FANCA):c.3408+16A>G	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GLikely benign
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 1387812	NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met)	FANCA, LOC132090450 (I1130M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 456114	NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)	FANCA, LOC132090450 (D1129H)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 697929	NM_000135.4(FANCA):c.3381A>G (p.Thr1127=)	FANCA, LOC132090450	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 1008851	NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr)	FANCA, LOC132090450 (A1125T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 576563	NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)	FANCA (S1121P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 1638339	NM_000135.4(FANCA):c.3349-19G>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 555397	NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)	FANCA (E1106K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 697447	NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 1337313	NM_000135.4(FANCA):c.3239+11C>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GLikely benign
Select item 1132412	NM_000135.4(FANCA):c.3239+7C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 579909	NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)	FANCA (M1077K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 837420	NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg)	FANCA (L1069R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 966084	NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro)	FANCA (A1066P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 841077	NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)	FANCA (V1065M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1083129	NM_000135.4(FANCA):c.3192C>T (p.Ser1064=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 972555	NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)	FANCA (G1062R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 408187	NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)	FANCA (S1061G)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 555008	NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	FANCA (R1055W)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 1095962	NM_000135.4(FANCA):c.3144C>T (p.Leu1048=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1020909	NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr)	FANCA (H1046Y)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 550170	NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp)	FANCA (E1023D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	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 576577	NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)	FANCA (R1011H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 408197	NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)	FANCA (D990N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1080193	NM_000135.4(FANCA):c.2964G>C (p.Leu988=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 526389	NM_000135.4(FANCA):c.2939C>T (p.Ala980Val)	FANCA (A980V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 1139623	NM_000135.4(FANCA):c.2937T>C (p.Ala979=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 1413064	NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg)	FANCA (G975R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 992111	NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu)	FANCA (F954L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 550055	NM_000135.4(FANCA):c.2853-15_2856del	FANCA	Deletion (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1111124	NM_000135.4(FANCA):c.2853-4C>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 1602256	NM_000135.4(FANCA):c.2852+13A>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 526433	NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	FANCA (R951Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 408196	NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	FANCA (R951W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic

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