"GeneDx"[submitter] AND "SLX4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 58621	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3	ADCY9, C16orf90 +29 more	Copy number gain	See cases	GPathogenic
Select item 319141	NM_032444.4(SLX4):c.*113C>T	SLX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 262029	NM_032444.4(SLX4):c.*8A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 241697	NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)	SLX4 (N1834S)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
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 212221	NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys)	SLX4 (R1761C)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign
Select item 1315996	NM_032444.4(SLX4):c.5231A>G (p.Gln1744Arg)	SLX4 (Q1744R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 456332	NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro)	SLX4 (S1730P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 422086	NM_032444.4(SLX4):c.5154-1G>A	SLX4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1270788	NM_032444.4(SLX4):c.5154-80T>C	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452113	NM_032444.4(SLX4):c.5150A>C (p.Gln1717Pro)	SLX4 (Q1717P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 241694	NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr)	SLX4 (S1716T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 966193	NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn)	SLX4 (S1715N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 319144	NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg)	SLX4 (P1687R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 212220	NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser)	SLX4 (P1677S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1043341	NM_032444.4(SLX4):c.4927G>T (p.Ala1643Ser)	SLX4 (A1643S)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1413540	NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter)	SLX4 (E1613*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1051899	NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu)	SLX4 (Q1590E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1279572	NM_032444.4(SLX4):c.4740-146T>C	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279052	NM_032444.4(SLX4):c.4739+198T>A	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242337	NM_032444.4(SLX4):c.4739+171T>C	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 929614	NM_032444.4(SLX4):c.4739+79G>A	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 929612	NM_032444.4(SLX4):c.4739+24G>T	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 215538	NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)	SLX4 (R1550W)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 929611	NM_032444.4(SLX4):c.4637-110T>C	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 929609	NM_032444.4(SLX4):c.4637-227C>T	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194956	NM_032444.4(SLX4):c.4637-242G>A	SLX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181995	NM_032444.4(SLX4):c.4637-318A>C	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279725	NM_032444.4(SLX4):c.4636+194C>T	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 241693	NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser)	SLX4 (G1534S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 262054	NM_032444.4(SLX4):c.4581G>A (p.Pro1527=)	SLX4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1035729	NM_032444.4(SLX4):c.4481_4525del (p.Gly1494_Ser1508del)	SLX4	Deletion (inframe_deletion)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 262053	NM_032444.4(SLX4):c.4500T>C (p.Asn1500=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +3 more	GBenign
Select item 698488	NM_032444.4(SLX4):c.4344C>T (p.Pro1448=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +2 more	GLikely benign
Select item 241690	NM_032444.4(SLX4):c.4338C>T (p.Thr1446=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 1195237	NM_032444.4(SLX4):c.4312A>G (p.Ile1438Val)	SLX4 (I1438V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 241688	NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln)	SLX4 (R1372Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GBenign/Likely benign
Select item 526427	NM_032444.4(SLX4):c.4099G>A (p.Ala1367Thr)	SLX4 (A1367T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 929605	NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)	SLX4 (D1365fs)	Deletion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
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 235267	NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala)	SLX4 (G1349A)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 886158	NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro)	SLX4 (S1344P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 241685	NM_032444.4(SLX4):c.3963G>A (p.Pro1321=)	SLX4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 456317	NM_032444.4(SLX4):c.3962C>T (p.Pro1321Leu)	SLX4 (P1321L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 319154	NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)	SLX4 (Q1314K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 262051	NM_032444.4(SLX4):c.3868C>A (p.His1290Asn)	SLX4 (H1290N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 241684	NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)	SLX4 (A1286V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 262050	NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe)	SLX4 (S1271F)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 262049	NM_032444.4(SLX4):c.3783G>A (p.Pro1261=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign
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 456312	NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val)	SLX4 (E1224V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GUncertain significance
Select item 262048	NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val)	SLX4 (A1221V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 959364	NM_032444.4(SLX4):c.3622C>G (p.Pro1208Ala)	SLX4 (P1208A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 220193	NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del)	SLX4 (I1195del)	Deletion (inframe_deletion)	not specified +1 more	GLikely benign
Select item 262047	NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu)	SLX4 (P1122L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GBenign
Select item 262046	NM_032444.4(SLX4):c.3162G>A (p.Ser1054=)	SLX4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 319160	NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro)	SLX4 (R1021P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1010560	NM_032444.4(SLX4):c.3041G>A (p.Arg1014Lys)	SLX4 (R1014K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 241677	NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)	SLX4 (P975L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GBenign/Likely benign
Select item 262045	NM_032444.4(SLX4):c.2855C>T (p.Ala952Val)	SLX4 (A952V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 262044	NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr)	SLX4 (A952T)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign
Select item 235273	NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln)	SLX4 (E942Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 407922	NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)	SLX4 (T919I)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 241674	NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser)	SLX4 (A916S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 319164	NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)	SLX4 (V894G)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 452112	NM_032444.4(SLX4):c.2675C>T (p.Ala892Val)	SLX4 (A892V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 407928	NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)	SLX4 (P885L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1390428	NM_032444.4(SLX4):c.2621G>A (p.Gly874Asp)	SLX4 (G874D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1318905	NM_032444.4(SLX4):c.2464A>G (p.Met822Val)	SLX4 (M822V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1316182	NM_032444.4(SLX4):c.2464A>T (p.Met822Leu)	SLX4 (M822L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 888493	NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)	SLX4 (E813K)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1320838	NM_032444.4(SLX4):c.2371A>G (p.Ile791Val)	SLX4 (I791V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 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 1706697	NM_032444.4(SLX4):c.2328-203G>A	SLX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 456299	NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)	SLX4 (P764A)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 841208	NM_032444.4(SLX4):c.2273C>T (p.Ala758Val)	SLX4 (A758V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 436781	NM_032444.4(SLX4):c.2249C>T (p.Thr750Met)	SLX4 (T750M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 407912	NM_032444.4(SLX4):c.2210G>A (p.Arg737His)	SLX4 (R737H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 929588	NM_032444.4(SLX4):c.2161-136G>A	SLX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266181	NM_032444.4(SLX4):c.2161-299G>C	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209081	NM_032444.4(SLX4):c.2160+280A>C	SLX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262042	NM_032444.4(SLX4):c.2160+50C>T	SLX4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1191168	NM_032444.4(SLX4):c.2160+45T>C	SLX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208294	NM_032444.4(SLX4):c.2160+24C>A	SLX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213063	NM_032444.4(SLX4):c.2160+23G>A	SLX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1318868	NM_032444.4(SLX4):c.2113G>A (p.Ala705Thr)	SLX4 (A705T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 414707	NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)	SLX4 (E701D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GConflicting classifications of pathogenicity
Select item 3340177	NM_032444.4(SLX4):c.2098G>A (p.Gly700Arg)	SLX4 (G700R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421976	NM_032444.4(SLX4):c.2053G>A (p.Val685Ile)	SLX4 (V685I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 414725	NM_032444.4(SLX4):c.2047G>A (p.Ala683Thr)	SLX4 (A683T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1335202	NM_032444.4(SLX4):c.2021T>G (p.Leu674Arg)	SLX4 (L674R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1270403	NM_032444.4(SLX4):c.2013+183A>G	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 929586	NM_032444.4(SLX4):c.2013+137G>C	SLX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262041	NM_032444.4(SLX4):c.2013+23G>A	SLX4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign

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