ClinVar for MedGen (Select 41967) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076009	NM_001018115.3(FANCD2):c.1278+1G>T	LOC107303338, FANCD2	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 3075917	NM_004629.2(FANCG):c.1771_1772del (p.Leu591fs)	FANCG (L591fs)	Deletion (frameshift variant)	Fanconi anemia	GLikely pathogenic
Select item 3075916	NM_000135.4(FANCA):c.1952del (p.Gly651fs)	FANCA (G651fs)	Deletion (frameshift variant)	Fanconi anemia	GLikely pathogenic
Select item 3075899	NM_000136.3(FANCC):c.34del (p.Tyr12fs)	FANCC (Y12fs)	Deletion (frameshift variant)	Fanconi anemia	GLikely pathogenic
Select item 3075866	NM_000135.4(FANCA):c.3348+1G>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia	GPathogenic
Select item 3075860	NM_032043.3(BRIP1):c.2258-2A>G	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 3069206	NC_000016.9:g.(?_89865477)_(89895213_?)del	SPIRE2, FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3024031	NM_000135.4(FANCA):c.231G>A (p.Val77=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3024017	NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)	FANCD2, LOC107303338 (H899Y +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3023986	NM_000135.4(FANCA):c.168C>T (p.Asp56=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3023676	NM_000135.4(FANCA):c.1566+14C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3023667	NM_020937.4(FANCM):c.1995T>C (p.Tyr665=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3023651	NM_020937.4(FANCM):c.2135_2140dup (p.Leu713_Gln714insProLeu)	FANCM	Duplication (inframe_insertion)	Fanconi anemia	GUncertain significance
Select item 3023614	NM_000135.4(FANCA):c.2151+4G>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 3023611	NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)	FANCD2, LOC107303338 (Q586* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3023552	NM_000135.4(FANCA):c.2087G>A (p.Ser696Asn)	FANCA (S696N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3023427	NM_000135.4(FANCA):c.3240-12C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3023388	NM_001018115.3(FANCD2):c.3342C>T (p.Ser1114=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3023126	NM_001113378.2(FANCI):c.1382-19T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3023096	NM_022725.4(FANCF):c.822T>C (p.Tyr274=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3023085	NM_000135.4(FANCA):c.1627-15C>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3022902	NM_032444.4(SLX4):c.3722G>C (p.Arg1241Pro)	SLX4 (R1241P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3022901	NM_032444.4(SLX4):c.4728G>A (p.Lys1576=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3022788	NM_001113525.2(ZNF276):c.*482C>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia	GLikely benign
Select item 3022763	NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)	FANCD2, LOC107303338 (F161L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3022762	NM_018062.4(FANCL):c.374+7C>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3022737	NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)	FANCB (T505S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3022302	NM_000135.4(FANCA):c.1360-18G>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3022049	NM_000135.4(FANCA):c.1776+16C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3022031	NM_000135.4(FANCA):c.306C>G (p.Ala102=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3022028	NM_000135.4(FANCA):c.1167G>A (p.Val389=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3021884	NM_001018115.3(FANCD2):c.888+10T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3021862	NM_020937.4(FANCM):c.956A>G (p.Asn319Ser)	FANCM (N319S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3021820	NM_000135.4(FANCA):c.1626+14A>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3021620	NM_018062.4(FANCL):c.156-13A>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3021314	NM_032444.4(SLX4):c.2328-20G>A	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3021184	NM_000135.4(FANCA):c.588G>C (p.Leu196=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3021132	NM_001113378.2(FANCI):c.2637-16C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3021029	NM_001018115.3(FANCD2):c.696-7T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3020991	NM_000135.4(FANCA):c.659A>G (p.Gln220Arg)	FANCA (Q188R +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3020625	NM_001113378.2(FANCI):c.504-5A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3020529	NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)	FANCM (Y666* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3020362	NM_032444.4(SLX4):c.1507C>T (p.Leu503Phe)	SLX4 (L503F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3020357	NM_000135.4(FANCA):c.1857C>A (p.Ser619=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3020331	NM_000135.4(FANCA):c.523-4dup	FANCA	Duplication (intron variant)	Fanconi anemia	GBenign
Select item 3020323	NM_001113378.2(FANCI):c.2586T>C (p.Pro862=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3020217	NM_032444.4(SLX4):c.4420G>A (p.Asp1474Asn)	SLX4 (D1474N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3020216	NM_001113378.2(FANCI):c.69C>T (p.Thr23=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3020199	NM_018062.4(FANCL):c.282C>T (p.Ala94=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3020198	NM_000135.4(FANCA):c.1186C>T (p.Leu396=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3020160	NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)	FANCD2 (I1012fs +1 more)	Duplication (frameshift variant)	Fanconi anemia	GPathogenic
Select item 3020078	NM_000135.4(FANCA):c.3345G>A (p.Glu1115=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019858	NM_001018115.3(FANCD2):c.4281+96T>C	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3019850	NM_001018113.3(FANCB):c.951+19T>C	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3019813	NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3019808	NM_001018115.3(FANCD2):c.3012C>T (p.Leu1004=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019795	NM_020937.4(FANCM):c.3494_3499dup (p.Ala1166_Ile1167insThrAla)	FANCM	Duplication (inframe_insertion)	Fanconi anemia	GUncertain significance
Select item 3019753	NM_001018113.3(FANCB):c.417C>A (p.Gly139=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019675	NM_001113378.2(FANCI):c.3059-14C>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3019593	NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)	FANCF (R122P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3019589	NM_000135.4(FANCA):c.2981+19A>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3019537	NM_032444.4(SLX4):c.5238C>T (p.Ala1746=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019535	NM_001113378.2(FANCI):c.1593T>C (p.Asp531=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019504	NM_001113378.2(FANCI):c.1782C>T (p.Cys594=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019492	NM_001018115.3(FANCD2):c.1947+6G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 3019491	NM_001113378.2(FANCI):c.3720+20C>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3019223	NM_000135.4(FANCA):c.42C>T (p.Asp14=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019211	NM_001113378.2(FANCI):c.3840G>A (p.Lys1280=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019191	NM_001018115.3(FANCD2):c.2860-5G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3019161	NM_001113378.2(FANCI):c.620T>A (p.Leu207His)	FANCI (L207H +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3019132	NM_001018113.3(FANCB):c.2406A>G (p.Leu802=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3018837	NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)	LOC107303338, FANCD2	Microsatellite (nonsense)	Fanconi anemia	GPathogenic
Select item 3018787	NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)	AOPEP, FANCC (Q410*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3018481	NM_001113378.2(FANCI):c.157+2TAA[2]	FANCI	Microsatellite (splice donor variant)	Fanconi anemia	GLikely benign
Select item 3018433	NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu)	FANCB (K829E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3018289	NM_001113378.2(FANCI):c.198T>C (p.Arg66=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3018229	NM_000135.4(FANCA):c.1627-17C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3018143	NM_000135.4(FANCA):c.1755C>A (p.Pro585=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3018058	NM_022725.4(FANCF):c.9C>A (p.Ser3=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017965	NM_032444.4(SLX4):c.1396G>A (p.Val466Ile)	SLX4 (V466I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017779	NM_001018115.3(FANCD2):c.1692T>C (p.Ser564=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017742	NM_020937.4(FANCM):c.3670T>C (p.Ser1224Pro)	FANCM (S1198P +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017528	NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly)	FANCB (R736G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017505	NM_001018115.3(FANCD2):c.2622A>G (p.Thr874=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017502	NM_018062.4(FANCL):c.390T>C (p.Asp130=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017501	NM_000136.3(FANCC):c.843+16T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3017423	NM_020937.4(FANCM):c.682-6dup	FANCM	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 3017383	NM_018062.4(FANCL):c.363T>C (p.Leu121=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017353	NM_001018115.3(FANCD2):c.2499C>T (p.Thr833=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017251	NM_000135.4(FANCA):c.2505-15A>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3017232	NM_032444.4(SLX4):c.4160C>A (p.Thr1387Asn)	SLX4 (T1387N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017163	NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)	FANCA, LOC130059837 (R880L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017107	NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg)	FANCI (T927R +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017061	NM_032444.4(SLX4):c.487G>A (p.Gly163Ser)	SLX4 (G163S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017045	NM_004629.2(FANCG):c.1077-13T>G	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3017005	NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr)	FANCI (A506T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3016710	NM_000135.4(FANCA):c.318G>A (p.Gly106=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3016618	NM_000135.4(FANCA):c.827-20G>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3016614	NM_000135.4(FANCA):c.2982-192A>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3016565	NM_000135.4(FANCA):c.3240-12C>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign

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