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 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 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 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 58621	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3	ADCY9, C16orf90 +29 more	Copy number gain	See cases	GPathogenic
Select item 2499642	GRCh38/hg38 16p13.3(chr16:3499966-3774794)	CLUAP1, CREBBP +18 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 152247	GRCh38/hg38 16p13.3(chr16:3515534-3749385)x3	CLUAP1, CREBBP +15 more	Copy number gain	See cases	GUncertain significance
Select item 148879	GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1	ADCY9, CREBBP +35 more	Copy number loss	See cases	GPathogenic
Select item 319121	NM_032444.4(SLX4):c.*1150G>C	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319122	NM_032444.4(SLX4):c.*1095G>A	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GBenign
Select item 888238	NM_032444.4(SLX4):c.*1047G>A	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 888239	NM_032444.4(SLX4):c.*1041A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GLikely benign
Select item 885126	NM_032444.4(SLX4):c.*1035A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GLikely benign
Select item 319123	NM_032444.4(SLX4):c.*1022A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GBenign
Select item 319124	NM_032444.4(SLX4):c.*1004A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P +1 more	GBenign
Select item 319125	NM_032444.4(SLX4):c.*984C>T	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GBenign
Select item 319126	NM_032444.4(SLX4):c.*957C>T	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 885127	NM_032444.4(SLX4):c.*944A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 885128	NM_032444.4(SLX4):c.*887C>T	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 885129	NM_032444.4(SLX4):c.*882C>T	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319127	NM_032444.4(SLX4):c.*871A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319128	NM_032444.4(SLX4):c.*811G>C	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319129	NM_032444.4(SLX4):c.*807G>A	SLX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 319130	NM_032444.4(SLX4):c.*721T>C	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P +1 more	GBenign
Select item 319131	NM_032444.4(SLX4):c.*658T>C	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GLikely benign
Select item 319132	NM_032444.4(SLX4):c.*655G>A	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P +1 more	GBenign
Select item 319133	NM_032444.4(SLX4):c.*652A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 886038	NM_032444.4(SLX4):c.*578G>A	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319134	NM_032444.4(SLX4):c.*555C>T	SLX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 887032	NM_032444.4(SLX4):c.*493G>T	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319135	NM_032444.4(SLX4):c.*469A>T	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319136	NM_032444.4(SLX4):c.*374C>T	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319137	NM_032444.4(SLX4):c.*311G>A	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319138	NM_032444.4(SLX4):c.298_301del	SLX4	Deletion (3 prime UTR variant)	Fanconi anemia	GUncertain significance
Select item 319139	NM_032444.4(SLX4):c.*168T>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319140	NM_032444.4(SLX4):c.*128A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GLikely benign
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 888301	NM_032444.4(SLX4):c.*102G>A	SLX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 319142	NM_032444.4(SLX4):c.*98A>G	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GConflicting classifications of pathogenicity
Select item 888302	NM_032444.4(SLX4):c.*82C>T	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 888303	NM_032444.4(SLX4):c.*73G>A	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 888304	NM_032444.4(SLX4):c.*54A>C	SLX4	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
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 526502	NC_000016.9:g.(?_3632337)_(3658971_?)dup	LOC130058346, SLX4	Duplication	Fanconi anemia	GUncertain significance
Select item 1337439	NM_032444.4(SLX4):c.*1T>C	SLX4	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
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 1521522	NM_032444.4(SLX4):c.5498G>A (p.Arg1833Gln)	SLX4 (R1833Q)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1026620	NM_032444.4(SLX4):c.5497C>T (p.Arg1833Trp)	SLX4 (R1833W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2783232	NM_032444.4(SLX4):c.5490G>A (p.Lys1830=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1517680	NM_032444.4(SLX4):c.5482AAG[2] (p.Lys1830del)	SLX4 (K1830del)	Microsatellite (inframe_deletion)	Fanconi anemia	GUncertain significance
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 1352258	NM_032444.4(SLX4):c.5480G>T (p.Gly1827Val)	SLX4 (G1827V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 574625	NM_032444.4(SLX4):c.5480del (p.Gly1827fs)	SLX4 (G1827fs)	Deletion (frameshift variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 407929	NM_032444.4(SLX4):c.5477G>A (p.Arg1826Gln)	SLX4 (R1826Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1336585	NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp)	SLX4 (R1826W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 2169849	NM_032444.4(SLX4):c.5468G>A (p.Arg1823Gln)	SLX4 (R1823Q)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 414714	NM_032444.4(SLX4):c.5467C>A (p.Arg1823=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 407914	NM_032444.4(SLX4):c.5467C>T (p.Arg1823Trp)	SLX4 (R1823W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1085063	NM_032444.4(SLX4):c.5457G>A (p.Gln1819=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2723264	NM_032444.4(SLX4):c.5446G>A (p.Glu1816Lys)	SLX4 (E1816K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1594521	NM_032444.4(SLX4):c.5445G>A (p.Arg1815=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1416587	NM_032444.4(SLX4):c.5444G>C (p.Arg1815Thr)	SLX4 (R1815T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 456337	NM_032444.4(SLX4):c.5441G>A (p.Arg1814His)	SLX4 (R1814H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2141562	NM_032444.4(SLX4):c.5440C>G (p.Arg1814Gly)	SLX4 (R1814G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 929618	NM_032444.4(SLX4):c.5440C>T (p.Arg1814Cys)	SLX4 (R1814C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 526490	NM_032444.4(SLX4):c.5436C>T (p.Ala1812=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2832338	NM_032444.4(SLX4):c.5434G>A (p.Ala1812Thr)	SLX4 (A1812T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 701209	NM_032444.4(SLX4):c.5433C>T (p.Ala1811=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1110119	NM_032444.4(SLX4):c.5427C>T (p.Thr1809=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 948967	NM_032444.4(SLX4):c.5423T>G (p.Phe1808Cys)	SLX4 (F1808C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 319143	NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met)	SLX4 (I1806M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 690302	NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg)	SLX4 (C1805R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2956082	NM_032444.4(SLX4):c.5412C>T (p.His1804=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1417020	NM_032444.4(SLX4):c.5410C>T (p.His1804Tyr)	SLX4 (H1804Y)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2727187	NM_032444.4(SLX4):c.5409C>A (p.Thr1803=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	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 407900	NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn)	SLX4 (D1802N)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 526497	NM_032444.4(SLX4):c.5403G>C (p.Leu1801=)	SLX4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2722552	NM_032444.4(SLX4):c.5389C>T (p.Leu1797=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 456336	NM_032444.4(SLX4):c.5386A>G (p.Arg1796Gly)	SLX4 (R1796G)	Single nucleotide variant (missense variant)	Fanconi anemia	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 526486	NM_032444.4(SLX4):c.5382G>A (p.Ser1794=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 2721850	NM_032444.4(SLX4):c.5381C>T (p.Ser1794Leu)	SLX4 (S1794L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 885195	NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)	SLX4 (R1791H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 885196	NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys)	SLX4 (R1791C)	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 885197	NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser)	SLX4 (G1789S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2721067	NM_032444.4(SLX4):c.5364C>T (p.Asn1788=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2832982	NM_032444.4(SLX4):c.5359C>T (p.Gln1787Ter)	SLX4 (Q1787*)	Single nucleotide variant (nonsense)	Fanconi anemia	GUncertain significance
Select item 1501540	NM_032444.4(SLX4):c.5359C>G (p.Gln1787Glu)	SLX4 (Q1787E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 407920	NM_032444.4(SLX4):c.5354T>C (p.Leu1785Pro)	SLX4 (L1785P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2150841	NM_032444.4(SLX4):c.5352G>A (p.Glu1784=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1398980	NM_032444.4(SLX4):c.5342_5350del (p.Leu1781_Glu1784delinsGln)	SLX4	Deletion (inframe_indel)	Fanconi anemia	GUncertain significance

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