ClinVar for MedGen (Select 483333) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362443	NM_000135.4(FANCA):c.3759_3762del (p.Glu1254fs)	FANCA (E1254fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3362298	NM_000135.4(FANCA):c.523-1G>C	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3341074	NM_000135.4(FANCA):c.[2316+1_2316+3del];[2778+1G>A]			Fanconi anemia complementation group A	GPathogenic
Select item 3254985	NM_000135.4(FANCA):c.1812dup (p.Glu605fs)	FANCA (E605fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 3242092	NM_000135.4(FANCA):c.3342_3343insCCT (p.Ser1114_Glu1115insPro)	FANCA	Insertion (inframe_insertion)	Fanconi anemia complementation group A	GUncertain significance
Select item 3241554	NM_000135.4(FANCA):c.427-1G>A	FANCA	Single nucleotide variant (splice acceptor variant +1 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241553	NM_000135.4(FANCA):c.4257_4260+16delinsTTCTCA	ZNF276, FANCA	Indel (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241552	NM_000135.4(FANCA):c.2685del (p.Leu896fs)	FANCA, LOC130059837 (L896fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241551	NM_000135.4(FANCA):c.2728_2731del (p.Leu910fs)	FANCA (L910fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241550	NM_000135.4(FANCA):c.2562_2564delinsGA (p.Asp854fs)	FANCA (D854fs)	Indel (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241549	NM_000135.4(FANCA):c.598del (p.His200fs)	FANCA (H168fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241548	NM_000135.4(FANCA):c.3627-2A>G	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241547	NM_000135.4(FANCA):c.976C>T (p.Gln326Ter)	FANCA (Q326*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241546	NM_000135.4(FANCA):c.2140C>T (p.Arg714Trp)	FANCA (R714W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 3241545	NM_000135.4(FANCA):c.3919C>T (p.Gln1307Ter)	FANCA, ZNF276 (Q1307*)	Single nucleotide variant (nonsense +2 more)	Fanconi anemia complementation group A	GPathogenic
Select item 3241544	NM_000135.4(FANCA):c.3446_3449dup (p.Met1151fs)	FANCA (M1151fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 3241543	NM_000135.4(FANCA):c.2909C>A (p.Ser970Ter)	FANCA (S970*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241542	NM_000135.4(FANCA):c.2223-2A>T	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241541	NM_000135.4(FANCA):c.3703C>T (p.Gln1235Ter)	FANCA (Q1235*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic
Select item 3241540	NM_000135.4(FANCA):c.2981+1G>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241539	NM_000135.4(FANCA):c.523-1del	FANCA	Deletion (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241538	NM_000135.4(FANCA):c.734_756delinsA (p.Arg245fs)	FANCA (R213fs +1 more)	Indel (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241537	NM_000135.4(FANCA):c.832dup (p.Leu278fs)	FANCA (L246fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241536	NM_000135.4(FANCA):c.3217_3218del (p.Arg1073fs)	FANCA (R1073fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241535	NM_000135.4(FANCA):c.2314del (p.Gln772fs)	FANCA (Q772fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241534	NM_000135.4(FANCA):c.1340C>A (p.Ser447Ter)	FANCA (S447*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241533	NM_000135.4(FANCA):c.4164_4167+13del	FANCA, ZNF276	Deletion (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3238627	GRCh38/hg38 16q24.3(chr16:89773385-89775741)	FANCA	Copy number loss	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3237193	NM_000135.4(FANCA):c.2317-30_2317-1del	FANCA	Deletion (splice acceptor variant)	Fanconi anemia complementation group A	GPathogenic
Select item 3237161	NM_000135.4(FANCA):c.893+2T>A	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GPathogenic
Select item 3234882	NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)	FANCA, LOC130059837 (R894*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3067970	NM_000135.4(FANCA):c.1083+1del	FANCA	Deletion (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3065970	NM_000135.4(FANCA):c.2187C>A (p.Asn729Lys)	FANCA (N729K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 2878323	NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)	FANCA (N729fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 2741312	NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)	FANCA (F954I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 2736384	NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)	FANCA (Q978*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 2675463	NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)	FANCA, LOC132090450 (A1132fs)	Indel (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675462	NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)	FANCA (W346*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675461	NM_000135.4(FANCA):c.2650del (p.Ser884fs)	FANCA, LOC130059837 (S884fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675460	NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)	FANCA, LOC130059837 (L883fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675459	NM_000135.4(FANCA):c.3096del (p.Asp1033fs)	FANCA (D1033fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675458	NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)	FANCA, LOC130059837 (Q869*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675457	NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)	FANCA (W177* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 2675456	NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)	FANCA (A149fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675455	NM_000135.4(FANCA):c.306del (p.Ser103fs)	FANCA (S103fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675454	NM_000135.4(FANCA):c.1226-2A>C	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675453	NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)	FANCA (K76*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675452	NM_000135.4(FANCA):c.80-2A>G	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675451	NM_000135.4(FANCA):c.83del (p.Gly28fs)	FANCA (G28fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675450	NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)	FANCA, ZNF276 (P1411fs +1 more)	Deletion (frameshift variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675449	NM_000135.4(FANCA):c.16dup (p.Val6fs)	FANCA, LOC112486223 (V6fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675448	NM_000135.4(FANCA):c.1630del (p.His544fs)	FANCA (H544fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675447	NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)	FANCA	Indel (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675445	NM_000135.4(FANCA):c.1006+1G>A	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675444	NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)	FANCA (V411fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675443	NM_000135.4(FANCA):c.793-2A>T	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675442	NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)	FANCA, ZNF276 (A1419fs +1 more)	Indel (frameshift variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675441	NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)	FANCA (Q387*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic
Select item 2675440	NM_000135.4(FANCA):c.1287del (p.Ala430fs)	FANCA (A430fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675439	NM_000135.4(FANCA):c.2247del (p.Phe749fs)	FANCA (F749fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675438	NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)	FANCA (E1015fs)	Indel (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675437	NM_000135.4(FANCA):c.449_450del (p.Glu150fs)	FANCA (E150fs)	Microsatellite (frameshift variant +1 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675436	NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)	FANCA, ZNF276 (K1387*)	Single nucleotide variant (nonsense +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675435	NM_000135.4(FANCA):c.3208del (p.Gln1070fs)	FANCA (Q1070fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675434	NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)	FANCA (Y35*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675433	NM_000135.4(FANCA):c.4100_4167+2del	FANCA, ZNF276 (L1367fs)	Deletion (frameshift variant +3 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675432	NM_000135.4(FANCA):c.32del (p.Ser11fs)	FANCA, LOC112486223 (S11fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675431	NM_000135.4(FANCA):c.522+2T>G	FANCA	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675430	NM_000135.4(FANCA):c.3514-1G>C	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675429	NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)	FANCA (S995*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675428	NM_000135.4(FANCA):c.155_161del (p.Arg52fs)	FANCA (R52fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675427	NM_000135.4(FANCA):c.80-99_105del	FANCA	Deletion (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675426	NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)	FANCA (W1173*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic
Select item 2675425	NM_000135.4(FANCA):c.3937del (p.Leu1313fs)	FANCA, ZNF276 (L1313fs)	Deletion (frameshift variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675424	NM_000135.4(FANCA):c.3409-3_3417del	FANCA	Deletion (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675423	NM_000135.4(FANCA):c.1826+2T>C	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675422	NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)	FANCA (L61fs)	Indel (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 2675421	NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)	FANCA, ZNF276 (L1319fs)	Duplication (frameshift variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675419	NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)	FANCA (E1255fs)	Indel (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675418	NM_000135.4(FANCA):c.283+2T>C	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GPathogenic
Select item 2675416	NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)	FANCA, ZNF276 (F1261fs)	Deletion (frameshift variant +2 more)	Fanconi anemia complementation group A	GPathogenic
Select item 2675415	NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)	FANCA, LOC112486223 (W5*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic
Select item 2675414	NM_000135.4(FANCA):c.3765+1G>A	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675413	NM_000135.4(FANCA):c.3504_3513+55del	FANCA	Deletion (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675411	NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)	FANCA (I865fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675410	NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)	FANCA (E605*)	Microsatellite (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675409	NM_000135.4(FANCA):c.3563dup (p.His1188fs)	FANCA (H1188fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675407	NM_000135.4(FANCA):c.1273dup (p.Asp425fs)	FANCA (D425fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675406	NM_000135.4(FANCA):c.1326del (p.Ser443fs)	FANCA (S443fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675405	NM_000135.4(FANCA):c.94del (p.Arg32fs)	FANCA (R32fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675404	NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)	FANCA, ZNF276 (S1301fs)	Microsatellite (frameshift variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675403	NM_000135.4(FANCA):c.3409-25_3418del	FANCA, LOC132090450	Deletion (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675402	NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)	FANCA (Q1107*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675401	NM_000135.4(FANCA):c.1084-1G>T	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675400	NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)	FANCA, ZNF276 (K1283*)	Single nucleotide variant (nonsense +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2675399	NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)	FANCA (E420K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2671632	NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer)	FANCA, ZNF276	Duplication (inframe_insertion +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 2663995	NM_000135.4(FANCA):c.1626+967_2015-679del	FANCA	Deletion (splice acceptor variant +1 more)	Fanconi anemia complementation group A	GPathogenic
Select item 2663987	NM_000135.4(FANCA):c.4261-7C>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 2663935	NM_000135.4(FANCA):c.4167+1G>A	FANCA, ZNF276 (A1390T)	Single nucleotide variant (missense variant +3 more)	Fanconi anemia complementation group A	GLikely pathogenic

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