SLX4IP[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 652394	NC_000020.11:g.(?_10253609)_(10673550_?)del	LOC126862973, LOC130065421 +23 more	Deletion	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3320618	NM_001009608.3(SLX4IP):c.52G>C (p.Asp18His)	SLX4IP (D18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525541	NM_001009608.3(SLX4IP):c.115G>A (p.Glu39Lys)	SLX4IP (E39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652203	NM_001009608.3(SLX4IP):c.135A>G (p.Leu45=)	SLX4IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2408098	NM_001009608.3(SLX4IP):c.191G>A (p.Arg64Lys)	SLX4IP (R64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271094	NM_001009608.3(SLX4IP):c.221A>G (p.Asn74Ser)	SLX4IP (N74S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320619	NM_001009608.3(SLX4IP):c.400G>A (p.Asp134Asn)	SLX4IP (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516643	NM_001009608.3(SLX4IP):c.484C>T (p.Arg162Trp)	SLX4IP (R162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517906	NM_001009608.3(SLX4IP):c.548C>T (p.Ser183Leu)	SLX4IP (S183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320616	NM_001009608.3(SLX4IP):c.691A>G (p.Ser231Gly)	SLX4IP (S231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166206	NM_001009608.3(SLX4IP):c.709G>A (p.Val237Ile)	SLX4IP (V237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492529	NM_001009608.3(SLX4IP):c.743C>A (p.Pro248Gln)	SLX4IP (P248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166207	NM_001009608.3(SLX4IP):c.928A>G (p.Arg310Gly)	SLX4IP (R310G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525268	NM_001009608.3(SLX4IP):c.966A>C (p.Glu322Asp)	SLX4IP (E322D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166208	NM_001009608.3(SLX4IP):c.988G>T (p.Ala330Ser)	SLX4IP (A330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378793	NM_001009608.3(SLX4IP):c.1046A>G (p.Asp349Gly)	SLX4IP (D349G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166205	NM_001009608.3(SLX4IP):c.1106A>G (p.His369Arg)	SLX4IP (H369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236239	NM_001009608.3(SLX4IP):c.1200A>C (p.Lys400Asn)	SLX4IP (K400N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248283	NC_000020.10:g.(?_7812350)_(10654278_?)del	ANKEF1, HAO1 +9 more	Deletion	Alagille syndrome due to a JAG1 point mutation +1 more	GPathogenic
Select item 3062417	GRCh37/hg19 20p12.2(chr20:10547804-10615376)x1	SLX4IP	Copy number loss	not specified	GUncertain significance
Select item 3062413	GRCh37/hg19 20p12.2(chr20:9596286-10678665)x1	ANKEF1, JAG1 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062400	GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1	ANKEF1, BTBD3 +10 more	Copy number loss	not specified	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	MIR1292, MRPS26 +114 more	Copy number gain	not provided	GPathogenic
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1526684	GRCh37/hg19 20p12.2(chr20:10573642-10778864)	JAG1, SLX4IP	Copy number loss	not specified	GUncertain significance
Select item 1526683	GRCh37/hg19 20p12.2(chr20:10522024-10627551)	JAG1, SLX4IP	Copy number gain	not specified	GUncertain significance
Select item 1526679	GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958)	ANKEF1, BTBD3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1440938	NC_000020.10:g.(?_7812350)_(10654278_?)dup	ANKEF1, HAO1 +9 more	Duplication	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1401472	NC_000020.10:g.(?_10256140)_(10654178_?)dup	JAG1, MKKS +2 more	Duplication	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1035221	NC_000020.10:g.(?_10579323)_(11009878_?)dup	JAG1, SLX4IP	Duplication	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 816117	GRCh37/hg19 20p12.2(chr20:10539537-10615376)x1	SLX4IP	Copy number loss	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 625616	GRCh37/hg19 20p12.2(chr20:10124855-11479105)	JAG1, MKKS +2 more	Copy number loss	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 394208	GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1	ANKEF1, BMP2 +28 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic

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Items: 57