ClinVar for MedGen (Select 483333) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 complementation group A +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_001113525.2(ZNF276):c.*469G>C	FANCA, ZNF276	Single nucleotide variant (non-coding transcript 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
Select item 2628066	NM_004006.2:g.(?_89845141)_(89858973_?)del	DMD, FANCA	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 2627971	NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)	FANCA (Y998*)	Duplication (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2627411	NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)	FANCA (L910P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 2585499	NM_000135.4(FANCA):c.2505-2A>C	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2585467	NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)	FANCA (L762I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 2584798	NM_001113525.2(ZNF276):c.*882C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +3 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 2584793	NM_000135.4(FANCA):c.2915del (p.Gly972fs)	FANCA (G972fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2584781	NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro)	FANCA (R1084P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 2579210	GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0	FANCA, LOC130059837 +1 more	Copy number loss	Fanconi anemia complementation group A	GPathogenic
Select item 2506551	GRCh37/hg19 16q24.3(chr16:89818649-89883044)	FANCA	Copy number loss	Fanconi anemia complementation group A	GPathogenic
Select item 2506518	GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1	FANCA, LOC130059837 +1 more	Copy number loss	Fanconi anemia complementation group A	GPathogenic
Select item 2504098	NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)	FANCA (F456S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2444887	NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln)	FANCA (L354Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 2444131	NM_000135.4(FANCA):c.2150dup (p.Met717fs)	FANCA (M717fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 2441342	NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)	FANCA (F1052L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2441341	NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)	FANCA, LOC130059837 (L891F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 2441340	NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)	FANCA (T654S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 2440212	NM_000135.4(FANCA):c.3828+1del	FANCA, LOC132090445 +1 more	Deletion (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2436163	NM_000135.4(FANCA):c.50dup (p.Arg18fs)	FANCA, LOC112486223 (R18fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 2412747	NM_000135.4(FANCA):c.1492del (p.Leu498fs)	FANCA (L498fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 2197499	NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)	FANCA (S696I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2155590	NM_000135.4(FANCA):c.3409-2A>G	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A +1 more	GLikely pathogenic
Select item 2154281	NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)	FANCA (V523F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2145973	NM_000135.4(FANCA):c.2852+1dup	FANCA	Duplication (splice donor variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 2142489	NM_000135.4(FANCA):c.284-2A>C	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 2100916	NM_000135.4(FANCA):c.792+1G>C	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 2071318	NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)	FANCA, ZNF276 (E1310fs)	Microsatellite (frameshift variant +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 2061199	NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)	FANCA (E169Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1903231	NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)	FANCA (E63*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1726433	NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)	FANCA (E408*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1726391	NM_000135.4(FANCA):c.714dup (p.Val239fs)	FANCA (V207fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1725744	NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)	FANCA (G658*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1725634	NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)	FANCA (Q1160*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1725160	NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)	FANCA (E630*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic

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