"Baylor Genetics"[submitter] AND "SLX4"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034146	NM_032444.4(SLX4):c.5470C>T (p.Gln1824Ter)	SLX4 (Q1824*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group P	GUncertain significance
Select item 850783	NM_032444.4(SLX4):c.5384G>A (p.Arg1795His)	SLX4 (R1795H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 997508	NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys)	SLX4 (R1795C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1028447	NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile)	SLX4 (L1790I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 436788	NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val)	SLX4 (A1755V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 1034145	NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs)	SLX4 (V1707fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group P	GLikely pathogenic
Select item 997591	NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)	SLX4 (R1680S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 887098	NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)	SLX4 (S1631F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 887099	NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val)	SLX4 (A1623V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 998225	NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter)	SLX4 (Q1529*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group P	GLikely pathogenic
Select item 436778	NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)	SLX4 (A1462S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GUncertain significance
Select item 407931	NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)	SLX4 (I1421F)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 241686	NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)	SLX4 (H1353N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 456316	NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe)	SLX4 (S1309F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 997611	NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser)	SLX4 (C1269S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1327082	NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr)	SLX4 (A1259T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 456313	NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)	SLX4 (R1226W)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1030973	NM_032444.4(SLX4):c.3209C>T (p.Ser1070Phe)	SLX4 (S1070F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 561112	NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)	SLX4 (R1046C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 319162	NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)	SLX4 (G992E)	Single nucleotide variant (missense variant)	SLX4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 456304	NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg)	SLX4 (G981R)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 407938	NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)	SLX4 (E787K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GConflicting classifications of pathogenicity
Select item 407899	NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)	SLX4 (E769Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GUncertain significance
Select item 1034141	NM_032444.4(SLX4):c.2208G>C (p.Gln736His)	SLX4 (Q736H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 407934	NM_032444.4(SLX4):c.2157G>T (p.Gln719His)	SLX4 (Q719H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 526348	NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)	SLX4 (R713*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1327081	NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu)	SLX4 (P664L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1030972	NM_032444.4(SLX4):c.1699C>T (p.Pro567Ser)	SLX4 (P567S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 1982926	NM_032444.4(SLX4):c.1684-1G>A	SLX4	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group P +1 more	GLikely pathogenic
Select item 1005436	NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp)	SLX4 (R558W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 845786	NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg)	SLX4 (S528R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 2013099	NM_032444.4(SLX4):c.1553A>G (p.Gln518Arg)	SLX4 (Q518R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 319175	NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)	SLX4 (A516V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 526360	NM_032444.4(SLX4):c.1499C>T (p.Thr500Met)	SLX4 (T500M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1020908	NM_032444.4(SLX4):c.1379G>A (p.Arg460His)	SLX4 (R460H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 407935	NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)	SLX4 (K458E)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 997600	NM_032444.4(SLX4):c.1331A>C (p.Glu444Ala)	SLX4 (E444A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 998224	NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp)	SLX4 (G380D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456289	NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn)	SLX4 (K359N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 456343	NM_032444.4(SLX4):c.996G>T (p.Gln332His)	SLX4 (Q332H)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 526411	NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)	SLX4 (S282L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456339	NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)	SLX4 (R278Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GConflicting classifications of pathogenicity
Select item 998263	NM_032444.4(SLX4):c.796G>A (p.Ala266Thr)	SLX4 (A266T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 574491	NM_032444.4(SLX4):c.610C>G (p.Arg204Gly)	SLX4 (R204G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 241698	NM_032444.4(SLX4):c.590T>C (p.Val197Ala)	SLX4 (V197A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GConflicting classifications of pathogenicity
Select item 241689	NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)	SLX4 (G141W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1034143	NM_032444.4(SLX4):c.352C>G (p.Pro118Ala)	SLX4 (P118A)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 526398	NM_032444.4(SLX4):c.145G>A (p.Glu49Lys)	SLX4 (E49K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic

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Items: 49