ClinVar for MedGen (Select 1648494) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1601602	NM_020937.4(FANCM):c.682-7del	FANCM	Deletion (intron variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 1601433	NM_020937.4(FANCM):c.4222+18dup	FANCM	Duplication (intron variant)	Spermatogenic failure 28 +2 more	GBenign/Likely benign
Select item 1594511	NM_020937.4(FANCM):c.1184-20C>A	FANCM	Single nucleotide variant (intron variant)	Premature ovarian failure 15 +2 more	GLikely benign
Select item 1578479	NM_020937.4(FANCM):c.4686A>G (p.Arg1562=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1563238	NM_020937.4(FANCM):c.4515+14del	FANCM	Deletion (intron variant)	Spermatogenic failure 28 +2 more	GBenign/Likely benign
Select item 1551761	NM_020937.4(FANCM):c.1397-16T>A	FANCM	Single nucleotide variant (intron variant)	Spermatogenic failure 28 +2 more	GLikely benign
Select item 1519483	NM_020937.4(FANCM):c.190G>T (p.Ala64Ser)	FANCM (A64S)	Single nucleotide variant (missense variant)	Premature ovarian failure 15 +2 more	GUncertain significance
Select item 1518789	NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys)	FANCM (Q1475K +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1510026	NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly)	FANCM (D1755G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1491838	NM_020937.4(FANCM):c.5341-19G>A	FANCM	Single nucleotide variant (intron variant)	Spermatogenic failure 28 +2 more	GLikely benign
Select item 1485931	NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys)	FANCM (E650K +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1477991	NM_020937.4(FANCM):c.164A>T (p.Asp55Val)	FANCM (D55V)	Single nucleotide variant (missense variant)	Premature ovarian failure 15 +2 more	GUncertain significance
Select item 1435173	NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala)	FANCM (T1805A +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1433164	NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala)	FANCM (D1656A +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1432374	NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)	FANCM (S2004T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +4 more	GConflicting classifications of pathogenicity
Select item 1413314	NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser)	FANCM (R1799S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1412597	NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly)	FANCM (D408G +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1407825	NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe)	FANCM (L1156F +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1407516	NM_020937.4(FANCM):c.972G>C (p.Arg324Ser)	FANCM (R298S +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1405978	NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu)	FANCM (P894L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1395563	NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg)	FANCM (K1485R +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1387613	NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser)	FANCM (N465S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1373340	NM_020937.4(FANCM):c.809G>A (p.Arg270His)	FANCM (R270H +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1370169	NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys)	FANCM (E1274K +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1367406	NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys)	FANCM (Y1997C +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1361430	NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)	FANCM (A1689V +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +4 more	GConflicting classifications of pathogenicity
Select item 1351852	NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser)	FANCM (T793S +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +4 more	GUncertain significance
Select item 1335853	NM_020937.4(FANCM):c.4189A>G (p.Met1397Val)	FANCM (M1371V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1327102	NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr)	FANCM (S78Y)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1327089	NM_020937.4(FANCM):c.5538A>C (p.Glu1846Asp)	FANCM (E1820D +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28	GUncertain significance
Select item 1319687	NM_020937.4(FANCM):c.1397-14A>T	FANCM	Single nucleotide variant (intron variant)	Spermatogenic failure 28 +3 more	GConflicting classifications of pathogenicity
Select item 1315012	NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro)	FANCM (A1537P +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1313752	NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr)	FANCM (C1452Y +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1313648	NM_020937.4(FANCM):c.3852T>G (p.Asp1284Glu)	FANCM (D1258E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1311714	NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys)	FANCM (R1328K +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1310966	NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser)	FANCM (G484S +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1302380	NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg)	FANCM (K1657R +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1258902	NM_020937.4(FANCM):c.4318-27G>A	FANCM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1254738	NM_020937.4(FANCM):c.1433G>A (p.Arg478Gln)	FANCM (R452Q +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1218803	NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu)	FANCM (Q1184E +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1203713	NM_020937.4(FANCM):c.5152G>A (p.Val1718Met)	FANCM (V1692M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1158735	NM_020937.4(FANCM):c.4780-4G>C	FANCM	Single nucleotide variant (intron variant)	Spermatogenic failure 28 +2 more	GLikely benign
Select item 1158355	NM_020937.4(FANCM):c.3882T>C (p.Val1294=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1154262	NM_020937.4(FANCM):c.1668T>C (p.Asp556=)	FANCM	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1150354	NM_020937.4(FANCM):c.876G>A (p.Pro292=)	FANCM	Single nucleotide variant (synonymous variant)	Spermatogenic failure 28 +2 more	GLikely benign
Select item 1133402	NM_020937.4(FANCM):c.6060G>A (p.Glu2020=)	FANCM	Single nucleotide variant (synonymous variant)	Spermatogenic failure 28 +3 more	GLikely benign
Select item 1131085	NM_020937.4(FANCM):c.4578T>G (p.Val1526=)	FANCM	Single nucleotide variant (synonymous variant)	Spermatogenic failure 28 +2 more	GLikely benign
Select item 1123201	NM_020937.4(FANCM):c.5205G>A (p.Ser1735=)	FANCM	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1122888	NM_020937.4(FANCM):c.1752G>A (p.Arg584=)	FANCM	Single nucleotide variant (synonymous variant)	Spermatogenic failure 28 +3 more	GLikely benign
Select item 1122592	NM_020937.4(FANCM):c.81C>T (p.Ser27=)	FANCM, LOC130055524	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1120983	NM_020937.4(FANCM):c.3513T>C (p.Pro1171=)	FANCM	Single nucleotide variant (synonymous variant)	FANCM-related disorder +4 more	GLikely benign
Select item 1109515	NM_020937.4(FANCM):c.3735A>T (p.Ile1245=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1102009	NM_020937.4(FANCM):c.3888C>A (p.Ile1296=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GLikely benign
Select item 1091359	NM_020937.4(FANCM):c.366C>G (p.Ala122=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GLikely benign
Select item 1062414	NM_020937.4(FANCM):c.410T>C (p.Val137Ala)	FANCM (V137A)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1060843	NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu)	FANCM (G606E +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1059607	NM_020937.4(FANCM):c.307C>G (p.Leu103Val)	FANCM (L103V)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1055039	NM_020937.4(FANCM):c.2530C>T (p.His844Tyr)	FANCM (H818Y +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1050898	NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala)	FANCM (T720A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1044919	NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser)	FANCM (N950S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1042293	NM_020937.4(FANCM):c.479T>A (p.Ile160Asn)	FANCM (I160N)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1041734	NM_020937.4(FANCM):c.2618G>T (p.Gly873Val)	FANCM (G873V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1040890	NM_020937.4(FANCM):c.934G>A (p.Ala312Thr)	FANCM (A286T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1037325	NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly)	FANCM (R590G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1036669	NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg)	FANCM (S776R +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1034829	NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del)	FANCM (V1965del +1 more)	Microsatellite (inframe_deletion)	Fanconi anemia +3 more	GUncertain significance
Select item 1023842	NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu)	FANCM (S471L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1023725	NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr)	FANCM (I432T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1020284	NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu)	FANCM (K1037E +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1019003	NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser)	FANCM (F1202S +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1018658	NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala)	FANCM (S458A +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1017319	NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys)	FANCM (E893K +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1016595	NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile)	FANCM (V1819I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1014443	NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly)	FANCM (E1381G +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1011649	NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu)	FANCM (S1709L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1010444	NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys)	FANCM (R543C +1 more)	Single nucleotide variant (missense variant)	FANCM-related disorder +4 more	GUncertain significance
Select item 1009144	NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile)	FANCM (N1343I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1005643	NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser)	FANCM (N322S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 998259	NM_020937.4(FANCM):c.868A>G (p.Ile290Val)	FANCM (I264V +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 998258	NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala)	FANCM (T1739A +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 998221	NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val)	FANCM (D1006V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 998220	NM_020937.4(FANCM):c.2095G>T (p.Glu699Ter)	FANCM (E673* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 28	GPathogenic
Select item 998219	NM_020937.4(FANCM):c.1074G>C (p.Glu358Asp)	FANCM (E332D +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28	GUncertain significance
Select item 997617	NM_020937.4(FANCM):c.4641del (p.Asn1547fs)	FANCM (N1521fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 28	GUncertain significance
Select item 997501	NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg)	FANCM (L1623R +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +1 more	GUncertain significance
Select item 970905	NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr)	FANCM (I1538T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 970655	NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu)	FANCM (P1098L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 967728	NM_020937.4(FANCM):c.601G>A (p.Gly201Arg)	FANCM (G201R)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 961461	NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg)	FANCM (P1000R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 961206	NM_020937.4(FANCM):c.2714A>T (p.Glu905Val)	FANCM (E905V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 956167	NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys)	FANCM (F783C +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 954324	NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr)	FANCM (S1717Y +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 952550	NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys)	FANCM (Y639C +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 952225	NM_020937.4(FANCM):c.3611G>A (p.Arg1204His)	FANCM (R1178H +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 951102	NM_020937.4(FANCM):c.875C>T (p.Pro292Leu)	FANCM (P292L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 947041	NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn)	FANCM (S1757N +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 946505	NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe)	FANCM (S1770F +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 945975	NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del)	FANCM	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 945080	NM_020937.4(FANCM):c.388C>T (p.Arg130Cys)	FANCM (R130C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 944940	NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe)	FANCM (L1023F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

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