ClinVar for Gene (Select 57697) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375523	NM_020937.4(FANCM):c.2320G>A (p.Glu774Lys)	FANCM (E748K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373687	NM_020937.4(FANCM):c.5528T>C (p.Leu1843Ser)	FANCM (L1817S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372266	NM_020937.4(FANCM):c.1993T>G (p.Tyr665Asp)	FANCM (Y639D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372264	NM_020937.4(FANCM):c.715T>G (p.Phe239Val)	FANCM (F239V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371862	NM_020937.4(FANCM):c.337A>G (p.Thr113Ala)	FANCM (T113A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371609	NM_020937.4(FANCM):c.5140G>C (p.Ala1714Pro)	FANCM (A1688P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371602	NM_020937.4(FANCM):c.973G>A (p.Asp325Asn)	FANCM (D299N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371283	NM_020937.4(FANCM):c.5729G>T (p.Arg1910Met)	FANCM (R1884M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371130	NM_020937.4(FANCM):c.5152G>T (p.Val1718Leu)	FANCM (V1692L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370891	NM_020937.4(FANCM):c.1697G>A (p.Ser566Asn)	FANCM (S540N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370890	NM_020937.4(FANCM):c.4719G>A (p.Met1573Ile)	FANCM (M1547I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370788	NM_020937.4(FANCM):c.798G>C (p.Gln266His)	FANCM (Q240H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369472	NM_020937.4(FANCM):c.5959dup (p.Ala1987fs)	FANCM (A1961fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3369471	NM_020937.4(FANCM):c.652A>G (p.Lys218Glu)	FANCM (K218E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369461	NM_020937.4(FANCM):c.3742C>T (p.His1248Tyr)	FANCM (H1222Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369186	NM_020937.4(FANCM):c.2715A>T (p.Glu905Asp)	FANCM (E879D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368784	NM_020937.4(FANCM):c.2863G>C (p.Val955Leu)	FANCM (V929L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368649	NM_020937.4(FANCM):c.4013G>T (p.Ser1338Ile)	FANCM (S1312I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368488	NM_020937.4(FANCM):c.5053G>A (p.Glu1685Lys)	FANCM (E1659K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367967	NM_020937.4(FANCM):c.1485G>A (p.Met495Ile)	FANCM (M469I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367893	NM_020937.4(FANCM):c.1424A>G (p.Asp475Gly)	FANCM (D449G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367714	NM_020937.4(FANCM):c.6097_6098del (p.Gln2033fs)	FANCM (Q2007fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3367294	NM_020937.4(FANCM):c.5042A>C (p.Asn1681Thr)	FANCM (N1655T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367271	NM_020937.4(FANCM):c.5700G>C (p.Lys1900Asn)	FANCM (K1874N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366183	NM_020937.4(FANCM):c.31A>T (p.Thr11Ser)	FANCM (T11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366120	NM_020937.4(FANCM):c.5866A>G (p.Asn1956Asp)	FANCM (N1930D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365785	NM_020937.4(FANCM):c.1988T>A (p.Phe663Tyr)	FANCM (F637Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365378	NM_020937.4(FANCM):c.4001A>G (p.Lys1334Arg)	FANCM (K1308R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364897	NM_020937.4(FANCM):c.3577C>G (p.Gln1193Glu)	FANCM (Q1167E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364500	NM_020937.4(FANCM):c.4894G>T (p.Asp1632Tyr)	FANCM (D1606Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364374	NM_020937.4(FANCM):c.2316+5G>C	FANCM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3364318	NM_020937.4(FANCM):c.197G>A (p.Arg66Gln)	FANCM (R66Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364306	NM_020937.4(FANCM):c.1463G>C (p.Ser488Thr)	FANCM (S462T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364302	NM_020937.4(FANCM):c.6009-6T>C	FANCM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3363751	NM_020937.4(FANCM):c.3841A>G (p.Ile1281Val)	FANCM (I1255V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363477	NM_020937.4(FANCM):c.5329G>A (p.Val1777Ile)	FANCM (V1751I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363211	NM_020937.4(FANCM):c.1356A>T (p.Lys452Asn)	FANCM (K426N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362129	NM_020937.4(FANCM):c.1822A>C (p.Ile608Leu)	FANCM (I582L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362115	NM_020937.4(FANCM):c.2461A>T (p.Ile821Leu)	FANCM (I795L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362101	NM_020937.4(FANCM):c.3290A>G (p.Asn1097Ser)	FANCM (N1071S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362098	NM_020937.4(FANCM):c.5651T>A (p.Ile1884Asn)	FANCM (I1858N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361657	NM_020937.4(FANCM):c.5060A>G (p.Asn1687Ser)	FANCM (N1661S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361646	NM_020937.4(FANCM):c.4866A>C (p.Glu1622Asp)	FANCM (E1596D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361644	NM_020937.4(FANCM):c.4387-13C>G	FANCM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3361361	NM_020937.4(FANCM):c.6094A>G (p.Ile2032Val)	FANCM (I2006V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361332	NM_020937.4(FANCM):c.53G>C (p.Arg18Pro)	FANCM (R18P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360619	NM_020937.4(FANCM):c.5822C>A (p.Thr1941Asn)	FANCM (T1915N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360477	NM_020937.4(FANCM):c.4607A>G (p.Asn1536Ser)	FANCM (N1510S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360305	NM_020937.4(FANCM):c.5915C>T (p.Ala1972Val)	FANCM (A1946V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360298	NM_020937.4(FANCM):c.4010T>C (p.Met1337Thr)	FANCM (M1311T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360149	NM_020937.4(FANCM):c.2662A>T (p.Asn888Tyr)	FANCM (N862Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360148	NM_020937.4(FANCM):c.1901A>G (p.Asn634Ser)	FANCM (N608S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359969	NM_020937.4(FANCM):c.5267T>C (p.Val1756Ala)	FANCM (V1730A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359932	NM_020937.4(FANCM):c.2838_2840dup (p.Asn947_Ser948insAsn)	FANCM	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3359885	NM_020937.4(FANCM):c.2111C>T (p.Thr704Ile)	FANCM (T678I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359715	NM_020937.4(FANCM):c.5161A>G (p.Thr1721Ala)	FANCM (T1695A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344810	NM_020937.4(FANCM):c.1405_1406del (p.Thr469fs)	FANCM (T443fs +1 more)	Microsatellite (frameshift variant)	FANCM-related disorder	GLikely pathogenic
Select item 3343722	NM_020937.4(FANCM):c.3247T>G (p.Cys1083Gly)	FANCM (C1057G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342832	NM_020937.4(FANCM):c.860A>G (p.Glu287Gly)	FANCM (E261G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342795	NM_020937.4(FANCM):c.4852T>C (p.Ser1618Pro)	FANCM (S1592P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342461	NM_020937.4(FANCM):c.3289A>C (p.Asn1097His)	FANCM (N1071H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340908	NM_020937.4(FANCM):c.2161-1G>A	FANCM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3277683	NM_020937.4(FANCM):c.1820G>A (p.Ser607Asn)	FANCM (S581N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3277682	NM_020937.4(FANCM):c.1300A>C (p.Ile434Leu)	FANCM (I434L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277681	NM_020937.4(FANCM):c.3732A>T (p.Glu1244Asp)	FANCM (E1244D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253239	NM_020937.4(FANCM):c.746G>A (p.Gly249Asp)	FANCM (G249D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253153	NM_020937.4(FANCM):c.3314G>T (p.Ser1105Ile)	FANCM (S1079I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253062	NM_020937.4(FANCM):c.781A>G (p.Asn261Asp)	FANCM (N235D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252851	NM_020937.4(FANCM):c.4976A>G (p.His1659Arg)	FANCM (H1633R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252785	NM_020937.4(FANCM):c.4205C>T (p.Ser1402Phe)	FANCM (S1376F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252649	NM_020937.4(FANCM):c.1250A>T (p.Glu417Val)	FANCM (E391V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252364	NM_020937.4(FANCM):c.4438C>T (p.Gln1480Ter)	FANCM (Q1454* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3252179	NM_020937.4(FANCM):c.5024A>C (p.Glu1675Ala)	FANCM (E1649A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243942	NC_000014.8:g.(?_45618020)_(45669211_?)dup	FANCM	Duplication	Fanconi anemia	GUncertain significance
Select item 3243941	NC_000014.9:g.(?_45159086)_(45159290_?)dup	FANCM	Duplication	Fanconi anemia	GLikely pathogenic
Select item 3243940	NC_000014.8:g.(?_45667837)_(45669211_?)del	FANCM	Deletion	Fanconi anemia	GLikely pathogenic
Select item 3239488	NM_020937.4(FANCM):c.1980A>C (p.Ser660=)	FANCM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3092837	NM_020937.4(FANCM):c.4117T>G (p.Phe1373Val)	FANCM (F1347V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092836	NM_020937.4(FANCM):c.2905A>G (p.Ile969Val)	FANCM (I943V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092834	NM_020937.4(FANCM):c.2161G>C (p.Ala721Pro)	FANCM (A721P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092833	NM_020937.4(FANCM):c.1954C>T (p.Pro652Ser)	FANCM (P626S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092830	NM_020937.4(FANCM):c.1550C>A (p.Thr517Lys)	FANCM (T517K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055188	NM_020937.4(FANCM):c.3810T>C (p.Ser1270=)	FANCM	Single nucleotide variant (synonymous variant)	FANCM-related disorder	GLikely benign
Select item 3055083	NM_020937.4(FANCM):c.5151G>A (p.Lys1717=)	FANCM	Single nucleotide variant (synonymous variant)	FANCM-related disorder	GLikely benign
Select item 3054006	NM_020937.4(FANCM):c.3879T>G (p.Thr1293=)	FANCM	Single nucleotide variant (synonymous variant)	FANCM-related disorder	GLikely benign
Select item 3051147	NM_020937.4(FANCM):c.2002+11T>C	FANCM	Single nucleotide variant (3 prime UTR variant +1 more)	FANCM-related disorder	GLikely benign
Select item 3048880	NM_020937.4(FANCM):c.3141G>A (p.Gln1047=)	FANCM	Single nucleotide variant (synonymous variant)	FANCM-related disorder	GLikely benign
Select item 3029396	NM_020937.4(FANCM):c.4623A>G (p.Ser1541=)	FANCM	Single nucleotide variant (synonymous variant)	FANCM-related disorder	GLikely benign
Select item 3027291	NM_020937.4(FANCM):c.2777_2778del (p.Glu926fs)	FANCM (E900fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 +1 more	GUncertain significance
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 3020529	NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)	FANCM (Y666* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3019795	NM_020937.4(FANCM):c.3494_3499dup (p.Ala1166_Ile1167insThrAla)	FANCM	Duplication (inframe_insertion)	Fanconi anemia	GUncertain significance
Select item 3017742	NM_020937.4(FANCM):c.3670T>C (p.Ser1224Pro)	FANCM (S1198P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3017423	NM_020937.4(FANCM):c.682-6dup	FANCM	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 3015545	NM_020937.4(FANCM):c.2837A>G (p.Tyr946Cys)	FANCM (Y920C +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3015384	NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)	FANCM (Y1325* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3014806	NM_020937.4(FANCM):c.5716+5G>A	FANCM	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 3011281	NM_020937.4(FANCM):c.6061G>A (p.Glu2021Lys)	FANCM (E2021K +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance

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