"Cancer Genomics Group, Japanese Foundation For Cancer Research"[submi - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 830243	NM_020937.4(FANCM):c.173T>G (p.Leu58Arg)	FANCM (L58R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 567158	NM_020937.4(FANCM):c.424C>T (p.Pro142Ser)	FANCM (P142S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 830244	NM_020937.4(FANCM):c.1025G>A (p.Arg342Lys)	FANCM (R316K +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 313200	NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys)	FANCM (R581C +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 634804	NM_020937.4(FANCM):c.2201_2202dup (p.Glu735fs)	FANCM (E709fs +1 more)	Microsatellite (frameshift variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 313204	NM_020937.4(FANCM):c.2240A>G (p.His747Arg)	FANCM (H747R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 830245	NM_020937.4(FANCM):c.2311G>A (p.Glu771Lys)	FANCM (E745K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 830246	NM_020937.4(FANCM):c.2444C>T (p.Ser815Leu)	FANCM (S789L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 830247	NM_020937.4(FANCM):c.2525_2528del (p.Gln842fs)	FANCM (Q842fs +1 more)	Microsatellite (frameshift variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 830248	NM_020937.4(FANCM):c.2696G>A (p.Arg899Lys)	FANCM (R873K +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 575971	NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu)	FANCM (P999L +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 830249	NM_020937.4(FANCM):c.3931C>T (p.Pro1311Ser)	FANCM (P1285S +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 830250	NM_020937.4(FANCM):c.4378A>C (p.Ile1460Leu)	FANCM (I1434L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 830259	NM_020937.4(FANCM):c.4396T>A (p.Ser1466Thr)	FANCM (S1440T +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 313221	NM_020937.4(FANCM):c.4709G>A (p.Arg1570His)	FANCM (R1570H +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 830260	NM_020937.4(FANCM):c.4771T>A (p.Phe1591Ile)	FANCM (F1565I +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 830261	NM_020937.4(FANCM):c.4793A>G (p.Asp1598Gly)	FANCM (D1572G +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 696063	NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del)	FANCM (E1622del +1 more)	Microsatellite (inframe_deletion)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 526466	NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys)	FANCM (E1676K +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 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)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 830263	NM_020937.4(FANCM):c.5282C>T (p.Pro1761Leu)	FANCM (P1735L +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 830264	NM_020937.4(FANCM):c.5306A>G (p.Gln1769Arg)	FANCM (Q1743R +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 830265	NM_020937.4(FANCM):c.5872G>T (p.Gly1958Cys)	FANCM (G1932C +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 830266	NM_020937.4(FANCM):c.6008+1G>A	FANCM	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GUncertain significance

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Items: 24