C3469521[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219407	NM_000136.3(FANCC):c.844-10_844-8del	AOPEP, FANCC	Deletion (intron variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 134305	NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	AOPEP, FANCC (D195V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 557781	NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter)	FANCA, ZNF276 (Q1440*)	Single nucleotide variant (nonsense +2 more)	Fanconi anemia complementation group A +1 more	GUncertain significance
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 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 545114	NM_000135.4(FANCA):c.4261-2A>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 557362	NM_000135.4(FANCA):c.4260+1dup	FANCA, ZNF276	Duplication (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 557100	NM_000135.4(FANCA):c.4260+2T>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 408210	NM_000135.4(FANCA):c.4260+1G>A	ZNF276, FANCA	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GLikely pathogenic
Select item 554775	NM_000135.4(FANCA):c.4257dup (p.Glu1420fs)	FANCA, ZNF276 (E1420fs +1 more)	Duplication (frameshift variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 550725	NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)	FANCA, ZNF276 (S1416*)	Single nucleotide variant (nonsense +3 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
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 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 556738	NM_000135.4(FANCA):c.4167+2C>T	FANCA, ZNF276 (A1390V)	Single nucleotide variant (missense variant +3 more)	Fanconi anemia +1 more	GUncertain significance
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 219753	NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)	FANCA, ZNF276 (A1357fs)	Deletion (frameshift variant +2 more)	Fanconi anemia +2 more	GPathogenic
Select item 558157	NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile)	FANCA, ZNF276 (M1360I)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 554319	NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)	FANCA, ZNF276 (D1359Y)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
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 134280	NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	FANCA, ZNF276 (L1339F)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 553602	NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del)	FANCA, ZNF276	Deletion (inframe_indel +3 more)	Fanconi anemia complementation group A	GUncertain significance
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 550150	NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)	FANCA, ZNF276 (L1320del)	Microsatellite (inframe_indel +3 more)	Fanconi anemia +2 more	GUncertain significance
Select item 555860	NM_000135.4(FANCA):c.3935-1G>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 135539	NM_000135.4(FANCA):c.3934+74C>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GLikely benign
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 556224	NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	FANCA, ZNF276 (L1305F)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 551997	NM_000135.4(FANCA):c.3890dup (p.Arg1298fs)	FANCA, ZNF276 (R1298fs)	Duplication (frameshift variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
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 557856	NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)	FANCA, ZNF276 (L1295*)	Single nucleotide variant (nonsense +2 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 554934	NM_000135.4(FANCA):c.3829-9G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 555597	NM_000135.4(FANCA):c.3828+1G>A	FANCA, LOC132090445 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
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 552589	NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile)	FANCA, ZNF276 (M1266I)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 557952	NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe)	FANCA, ZNF276 (L1265F)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 558427	NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu)	FANCA, ZNF276 (F1262L)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 555285	NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)	FANCA (E1255fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 370466	NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)	FANCA (E1254fs)	Microsatellite (frameshift variant)	See cases +1 more	GPathogenic
Select item 237051	NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val)	FANCA (E1254V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 557865	NM_000135.4(FANCA):c.3745del (p.Leu1249fs)	FANCA (L1249fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 556856	NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del)	FANCA (I1242del)	Deletion (inframe_deletion)	Fanconi anemia +1 more	GUncertain significance
Select item 3448	NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)	FANCA (E1240fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 558648	NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del)	FANCA (Q1236del)	Microsatellite (inframe_deletion)	Fanconi anemia complementation group A	GUncertain significance
Select item 554124	NM_000135.4(FANCA):c.3696del (p.Phe1232fs)	FANCA (F1232fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 552703	NM_000135.4(FANCA):c.3626+1G>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 558280	NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs)	FANCA (R1204fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 526377	NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)	FANCA (E1202del)	Microsatellite (inframe_deletion)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 555307	NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)	FANCA (Q1198*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3444	NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)	FANCA (R1187fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 435126	NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)	FANCA (T1161M)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 134266	NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)	FANCA (A1141D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 557812	NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)	FANCA, LOC132090450 (F1135fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 557681	NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter)	FANCA, LOC132090450 (Q1128*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 552207	NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del)	FANCA (C1120del)	Deletion (inframe_deletion)	Fanconi anemia +1 more	GUncertain significance
Select item 237047	NM_000135.4(FANCA):c.3357C>T (p.Phe1119=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +1 more	GLikely benign
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 550696	NM_000135.4(FANCA):c.3349-3C>T	FANCA	Single nucleotide variant (intron variant)	FANCA-related disorder +3 more	GUncertain significance
Select item 553239	NM_000135.4(FANCA):c.3348+1G>A	FANCA	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
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 552829	NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)	FANCA (R1080Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556298	NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)	FANCA (R1055L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	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 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 156400	NM_000135.4(FANCA):c.3066+1G>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 551390	NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs)	FANCA (S997fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 555392	NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg)	FANCA (S994R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 554136	NM_000135.4(FANCA):c.2982-1G>C	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 553159	NM_000135.4(FANCA):c.2981+1G>A	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 456105	NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro)	FANCA (A987P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 134261	NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)	FANCA (T982A)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 224986	NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)	FANCA (C981R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 558147	NM_000135.4(FANCA):c.2910del (p.Gly972fs)	FANCA (G972fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 237044	NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu)	FANCA (S968L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 552462	NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)	FANCA (W957*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 134262	NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)	FANCA (D953E)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
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 557092	NM_000135.4(FANCA):c.2853-2A>C	FANCA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
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
Select item 558253	NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)	FANCA (S947*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic
Select item 552489	NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)	FANCA	Duplication (nonsense)	not provided +2 more	GPathogenic
Select item 555463	NM_000135.4(FANCA):c.2778+2T>C	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 553176	NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)	FANCA (E922fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 555969	NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	FANCA (H913P)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 134260	NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys)	FANCA, LOC130059837 (R894K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 550737	NM_000135.4(FANCA):c.2667del (p.Ser890fs)	FANCA, LOC130059837 (S890fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555460	NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	FANCA, LOC130059837 (R880Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 556663	NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer)	FANCA, LOC130059837	Deletion (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 554084	NM_000135.4(FANCA):c.2602T>G (p.Phe868Val)	FANCA, LOC130059837 (F868V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 555572	NM_000135.4(FANCA):c.2602-2A>T	LOC130059837, FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic
Select item 237040	NM_000135.4(FANCA):c.2593A>G (p.Ile865Val)	FANCA (I865V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 554800	NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe)	FANCA (S861F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 134258	NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)	FANCA (L856S)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 192384	NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	FANCA (R853*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 550840	NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)	FANCA (C846fs)	Microsatellite (frameshift variant)	See cases +2 more	GPathogenic
Select item 556016	NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)	FANCA (L845P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 556394	NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)	FANCA (Y843*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 555088	NM_000135.4(FANCA):c.2524del (p.Ser842fs)	FANCA (S842fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic

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