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

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2306465	NM_032444.4(SLX4):c.5483A>G (p.Lys1828Arg)	SLX4 (K1828R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2298798	NM_032444.4(SLX4):c.5408C>T (p.Thr1803Ile)	SLX4 (T1803I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240531	NM_032444.4(SLX4):c.5293G>A (p.Ala1765Thr)	SLX4 (A1765T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1007142	NM_032444.4(SLX4):c.5263G>T (p.Ala1755Ser)	SLX4 (A1755S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2186257	NM_032444.4(SLX4):c.5246C>T (p.Ala1749Val)	SLX4 (A1749V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2272691	NM_032444.4(SLX4):c.5102A>G (p.Glu1701Gly)	SLX4 (E1701G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 319146	NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile)	SLX4 (T1676I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1483625	NM_032444.4(SLX4):c.4939G>A (p.Ala1647Thr)	SLX4 (A1647T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1692018	NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu)	SLX4 (K1635E)	Single nucleotide variant (missense variant)	SLX4-related condition +3 more	GUncertain significance
Select item 319148	NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)	SLX4 (A1630D)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2288291	NM_032444.4(SLX4):c.4862T>G (p.Leu1621Trp)	SLX4 (L1621W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551712	NM_032444.4(SLX4):c.4852C>G (p.Gln1618Glu)	SLX4 (Q1618E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1437419	NM_032444.4(SLX4):c.4804A>C (p.Thr1602Pro)	SLX4 (T1602P)	Single nucleotide variant (missense variant)	SLX4-related condition +2 more	GUncertain significance
Select item 1990971	NM_032444.4(SLX4):c.4742T>C (p.Phe1581Ser)	SLX4 (F1581S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1441332	NM_032444.4(SLX4):c.4607C>T (p.Ala1536Val)	SLX4 (A1536V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2241303	NM_032444.4(SLX4):c.4553A>G (p.Glu1518Gly)	SLX4 (E1518G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 319151	NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg)	SLX4 (G1516R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2512315	NM_032444.4(SLX4):c.4472A>G (p.Lys1491Arg)	SLX4 (K1491R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 846055	NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe)	SLX4 (S1469F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1060542	NM_032444.4(SLX4):c.4394G>A (p.Arg1465His)	SLX4 (R1465H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 436778	NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)	SLX4 (A1462S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2300727	NM_032444.4(SLX4):c.4280G>C (p.Cys1427Ser)	SLX4 (C1427S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456321	NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val)	SLX4 (I1423V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GConflicting classifications of pathogenicity
Select item 862622	NM_032444.4(SLX4):c.4019A>G (p.His1340Arg)	SLX4 (H1340R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1018470	NM_032444.4(SLX4):c.4002C>A (p.Asp1334Glu)	SLX4 (D1334E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 2269668	NM_032444.4(SLX4):c.3806G>A (p.Cys1269Tyr)	SLX4 (C1269Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471784	NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val)	SLX4 (A1234V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1039911	NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu)	SLX4 (P1223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2613346	NM_032444.4(SLX4):c.3219G>C (p.Leu1073Phe)	SLX4 (L1073F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319509	NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg)	SLX4 (G1064R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1044192	NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met)	SLX4 (L1056M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 885329	NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)	SLX4 (A1023D)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1046115	NM_032444.4(SLX4):c.3013G>A (p.Glu1005Lys)	SLX4 (E1005K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 2613345	NM_032444.4(SLX4):c.2904G>C (p.Glu968Asp)	SLX4 (E968D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1017960	NM_032444.4(SLX4):c.2767A>T (p.Met923Leu)	SLX4 (M923L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 407922	NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)	SLX4 (T919I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1436950	NM_032444.4(SLX4):c.2719G>C (p.Glu907Gln)	SLX4 (E907Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2491503	NM_032444.4(SLX4):c.2684A>C (p.Gln895Pro)	SLX4 (Q895P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304571	NM_032444.4(SLX4):c.2591T>C (p.Leu864Pro)	SLX4 (L864P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471433	NM_032444.4(SLX4):c.2553G>A (p.Met851Ile)	SLX4 (M851I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2195008	NM_032444.4(SLX4):c.2473G>T (p.Asp825Tyr)	SLX4 (D825Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2623432	NM_032444.4(SLX4):c.2347G>C (p.Val783Leu)	SLX4 (V783L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1907362	NM_032444.4(SLX4):c.2246G>T (p.Arg749Leu)	SLX4 (R749L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 938577	NM_032444.4(SLX4):c.1994A>G (p.Asp665Gly)	SLX4 (D665G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1692001	NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn)	SLX4 (S580N)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 2612987	NM_032444.4(SLX4):c.1624A>G (p.Met542Val)	SLX4 (M542V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2239744	NM_032444.4(SLX4):c.1598G>A (p.Gly533Asp)	SLX4 (G533D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1436429	NM_032444.4(SLX4):c.1597G>C (p.Gly533Arg)	SLX4 (G533R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1397207	NM_032444.4(SLX4):c.1573C>T (p.Arg525Cys)	SLX4 (R525C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 576434	NM_032444.4(SLX4):c.1537T>C (p.Trp513Arg)	SLX4 (W513R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2543362	NM_032444.4(SLX4):c.1312G>A (p.Val438Ile)	SLX4 (V438I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366561	NM_032444.4(SLX4):c.1289C>T (p.Ser430Leu)	SLX4 (S430L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1185875	NM_032444.4(SLX4):c.1255G>A (p.Glu419Lys)	SLX4 (E419K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2297490	NM_032444.4(SLX4):c.1208G>A (p.Ser403Asn)	SLX4 (S403N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1043598	NM_032444.4(SLX4):c.1084G>C (p.Val362Leu)	SLX4 (V362L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1319440	NM_032444.4(SLX4):c.941A>G (p.His314Arg)	SLX4 (H314R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2248606	NM_032444.4(SLX4):c.919A>C (p.Asn307His)	SLX4 (N307H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337307	NM_032444.4(SLX4):c.822G>C (p.Gln274His)	SLX4 (Q274H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 407937	NM_032444.4(SLX4):c.802G>A (p.Val268Met)	SLX4 (V268M)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2241884	NM_032444.4(SLX4):c.524A>C (p.Glu175Ala)	SLX4 (E175A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1357157	NM_032444.4(SLX4):c.424G>C (p.Gly142Arg)	SLX4 (G142R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 944056	NM_032444.4(SLX4):c.420G>T (p.Glu140Asp)	SLX4 (E140D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2269768	NM_032444.4(SLX4):c.313G>A (p.Gly105Ser)	SLX4 (G105S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222549	NM_032444.4(SLX4):c.299C>T (p.Thr100Ile)	SLX4 (T100I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271157	NM_032444.4(SLX4):c.295A>G (p.Lys99Glu)	SLX4 (K99E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 568088	NM_032444.4(SLX4):c.247G>A (p.Gly83Ser)	SLX4 (G83S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2623328	NM_032444.4(SLX4):c.27G>C (p.Gln9His)	SLX4 (Q9H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 68