"Ambry Genetics"[submitter] AND "FANCM"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1493455	NM_020937.4(FANCM):c.232T>C (p.Ser78Pro)	FANCM (S78P)	Single nucleotide variant (missense variant)	FANCM-related condition +3 more	GUncertain significance
Select item 1327102	NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr)	FANCM (S78Y)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 851894	NM_020937.4(FANCM):c.291C>G (p.His97Gln)	FANCM (H97Q)	Single nucleotide variant (missense variant)	Fanconi anemia +6 more	GUncertain significance
Select item 2233853	NM_020937.4(FANCM):c.439G>C (p.Val147Leu)	FANCM (V147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231634	NM_020937.4(FANCM):c.682-5T>C	FANCM	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1800653	NM_020937.4(FANCM):c.791T>C (p.Ile264Thr)	FANCM (I238T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 854341	NM_020937.4(FANCM):c.812C>G (p.Ser271Cys)	FANCM (S245C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 951102	NM_020937.4(FANCM):c.875C>T (p.Pro292Leu)	FANCM (P292L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +4 more	GUncertain significance
Select item 2522837	NM_020937.4(FANCM):c.1155C>G (p.Phe385Leu)	FANCM (F385L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484321	NM_020937.4(FANCM):c.1162G>A (p.Gly388Arg)	FANCM (G362R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 408218	NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr)	FANCM (I434T +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure 15 +4 more	GUncertain significance
Select item 638962	NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys)	FANCM (E445K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2558006	NM_020937.4(FANCM):c.1435G>A (p.Val479Ile)	FANCM (V453I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 664955	NM_020937.4(FANCM):c.1509T>G (p.Ile503Met)	FANCM (I477M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 650456	NM_020937.4(FANCM):c.1786C>T (p.Arg596Cys)	FANCM (R570C +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2339005	NM_020937.4(FANCM):c.1880G>T (p.Arg627Leu)	FANCM (R601L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 844314	NM_020937.4(FANCM):c.2108T>G (p.Ile703Arg)	FANCM (I703R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2605799	NM_020937.4(FANCM):c.2150A>G (p.Glu717Gly)	FANCM (E691G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 526355	NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser)	FANCM (P720S +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +5 more	GConflicting classifications of pathogenicity
Select item 1415724	NM_020937.4(FANCM):c.2361G>A (p.Met787Ile)	FANCM (M761I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2332766	NM_020937.4(FANCM):c.2393G>A (p.Arg798Lys)	FANCM (R798K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 961206	NM_020937.4(FANCM):c.2714A>T (p.Glu905Val)	FANCM (E905V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 456262	NM_020937.4(FANCM):c.2758C>T (p.Pro920Ser)	FANCM (P920S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 844291	NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu)	FANCM (S936L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 665106	NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)	FANCM (L911F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 575971	NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu)	FANCM (P999L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 961461	NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg)	FANCM (P1000R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2413303	NM_020937.4(FANCM):c.3102C>G (p.Cys1034Trp)	FANCM (C1008W +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2249660	NM_020937.4(FANCM):c.3149A>T (p.Glu1050Val)	FANCM (E1024V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1360164	NM_020937.4(FANCM):c.3212A>G (p.Asn1071Ser)	FANCM (N1045S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2234951	NM_020937.4(FANCM):c.3221T>C (p.Ile1074Thr)	FANCM (I1074T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 640910	NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys)	FANCM (S1053C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 2618898	NM_020937.4(FANCM):c.3307C>T (p.His1103Tyr)	FANCM (H1103Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 647852	NM_020937.4(FANCM):c.3525G>T (p.Gln1175His)	FANCM (Q1175H +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +4 more	GUncertain significance
Select item 2267387	NM_020937.4(FANCM):c.3577C>A (p.Gln1193Lys)	FANCM (Q1193K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1011098	NM_020937.4(FANCM):c.3616C>G (p.Gln1206Glu)	FANCM (Q1180E +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2479156	NM_020937.4(FANCM):c.3656A>G (p.Asp1219Gly)	FANCM (D1219G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801022	NM_020937.4(FANCM):c.3677A>T (p.Asp1226Val)	FANCM (D1200V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1428347	NM_020937.4(FANCM):c.3829A>G (p.Asn1277Asp)	FANCM (N1277D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 837024	NM_020937.4(FANCM):c.3854A>G (p.His1285Arg)	FANCM (H1285R +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance
Select item 2294939	NM_020937.4(FANCM):c.3886A>G (p.Ile1296Val)	FANCM (I1270V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233052	NM_020937.4(FANCM):c.3929T>G (p.Leu1310Trp)	FANCM (L1310W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615507	NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile)	FANCM (T1313I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2248135	NM_020937.4(FANCM):c.4325A>T (p.Lys1442Ile)	FANCM (K1416I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066816	NM_020937.4(FANCM):c.4346C>T (p.Pro1449Leu)	FANCM (P1423L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 807111	NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly)	FANCM (D1496G +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +4 more	GUncertain significance
Select item 2321899	NM_020937.4(FANCM):c.4640A>G (p.Asn1547Ser)	FANCM (N1547S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616112	NM_020937.4(FANCM):c.4699A>G (p.Lys1567Glu)	FANCM (K1541E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1360766	NM_020937.4(FANCM):c.4775C>T (p.Ser1592Leu)	FANCM (S1566L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2274204	NM_020937.4(FANCM):c.4922A>G (p.Tyr1641Cys)	FANCM (Y1615C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2606107	NM_020937.4(FANCM):c.5050A>G (p.Arg1684Gly)	FANCM (R1658G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 830262	NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu)	FANCM (V1664L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 842787	NM_020937.4(FANCM):c.5078G>A (p.Ser1693Asn)	FANCM (S1667N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1435848	NM_020937.4(FANCM):c.5258A>G (p.His1753Arg)	FANCM (H1727R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2259454	NM_020937.4(FANCM):c.5402A>T (p.His1801Leu)	FANCM (H1775L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1715900	NM_020937.4(FANCM):c.5452A>G (p.Thr1818Ala)	FANCM (T1792A +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1430896	NM_020937.4(FANCM):c.5849T>C (p.Leu1950Ser)	FANCM (L1924S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2299214	NM_020937.4(FANCM):c.5888C>A (p.Thr1963Lys)	FANCM (T1963K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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

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Items: 60