"Institute for Clinical Genetics, University Hospital TU Dresden, Univ - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456276	NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)	FANCM, LOC130055524 (R18Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GConflicting classifications of pathogenicity
Select item 1319690	NM_020937.4(FANCM):c.103C>T (p.Pro35Ser)	FANCM (P35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 656862	NM_020937.4(FANCM):c.163G>A (p.Asp55Asn)	FANCM (D55N)	Single nucleotide variant (missense variant)	FANCM-related condition +5 more	GUncertain significance
Select item 313188	NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)	FANCM (L57F)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +6 more	GConflicting classifications of pathogenicity
Select item 841743	NM_020937.4(FANCM):c.179C>T (p.Ala60Val)	FANCM (A60V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 313189	NM_020937.4(FANCM):c.269C>T (p.Pro90Leu)	FANCM (P90L)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +5 more	GUncertain significance
Select item 456265	NM_020937.4(FANCM):c.352A>G (p.Thr118Ala)	FANCM (T118A)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 313194	NM_020937.4(FANCM):c.547A>C (p.Ser183Arg)	FANCM (S183R)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance
Select item 1319691	NM_020937.4(FANCM):c.1006C>A (p.Leu336Met)	FANCM (L310M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319689	NM_020937.4(FANCM):c.1072G>A (p.Glu358Lys)	FANCM (E332K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 568489	NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)	FANCM (Y413H +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +5 more	GConflicting classifications of pathogenicity
Select item 1319688	NM_020937.4(FANCM):c.1238A>G (p.Tyr413Cys)	FANCM (Y387C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261381	NM_020937.4(FANCM):c.1397-15TA[6]	FANCM	Microsatellite (splice acceptor variant)	Premature ovarian failure 15 +4 more	GConflicting classifications of pathogenicity
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 313199	NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)	FANCM (L526V +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +5 more	GConflicting classifications of pathogenicity
Select item 1319685	NM_020937.4(FANCM):c.1784_1785dup (p.Arg596fs)	FANCM (R570fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 444327	NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)	FANCM (R658* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1319684	NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu)	FANCM (K833E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1319683	NM_020937.4(FANCM):c.2617G>A (p.Gly873Ser)	FANCM (G847S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 313209	NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)	FANCM (K953N +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +6 more	GConflicting classifications of pathogenicity
Select item 414849	NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)	FANCM (R1099H +1 more)	Single nucleotide variant (missense variant)	FANCM-related condition +7 more	GConflicting classifications of pathogenicity
Select item 659358	NM_020937.4(FANCM):c.3587G>A (p.Arg1196His)	FANCM (R1170H +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +3 more	GUncertain significance
Select item 1319681	NM_020937.4(FANCM):c.3676G>A (p.Asp1226Asn)	FANCM (D1200N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 842905	NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs)	FANCM (Q1327fs +1 more)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 452291	NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu)	FANCM (P1331L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 313218	NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)	FANCM (R1456C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 953618	NM_020937.4(FANCM):c.4519G>A (p.Val1507Ile)	FANCM (V1481I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 772139	NM_020937.4(FANCM):c.4566T>C (p.Asp1522=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1319238	NM_020937.4(FANCM):c.4586A>G (p.Asp1529Gly)	FANCM (D1503G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 313220	NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe)	FANCM (L1543F +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1319678	NM_020937.4(FANCM):c.4781T>A (p.Ile1594Asn)	FANCM (I1568N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 649440	NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp)	FANCM (G1616D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 412519	NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)	FANCM (Q1701* +1 more)	Single nucleotide variant (nonsense)	Premature ovarian failure 15 +5 more	GConflicting classifications of pathogenicity
Select item 408221	NM_020937.4(FANCM):c.5569G>A (p.Val1857Met)	FANCM (V1857M +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance
Select item 639418	NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg)	FANCM (C1895R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1319677	NM_020937.4(FANCM):c.5809T>G (p.Cys1937Gly)	FANCM (C1911G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 408219	NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn)	FANCM (K1946N +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance

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Items: 37