XKR6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	AGPAT5, ANGPT2 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC126860290, LOC126860291 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	LOC126860289, LOC126860290 +773 more	Copy number loss	See cases	GPathogenic
Select item 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	BLK, C8orf74 +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	BLK, C8orf74 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	LOC126860304, LOC128462397 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	BLK, C8orf74 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	LOC129999842, LOC129999843 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	BLK, C8orf74 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	LOC129999830, LOC129999831 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	LINC03022, LOC101929128 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	LOC113788246, LOC113788294 +195 more	Copy number loss	See cases	GPathogenic
Select item 152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	LOC129999865, LOC129999866 +124 more	Copy number loss	See cases	GPathogenic
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	LOC129999843, LOC129999844 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	BLK, C8orf74 +205 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	LOC124049163, LOC124049164 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	BLK, C8orf74 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	LOC105379224, LOC105379230 +160 more	Copy number loss	See cases	GPathogenic
Select item 153058	GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3	C8orf74, CRE3 +67 more	Copy number gain	See cases	GPathogenic
Select item 152960	GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1	C8orf74, CRE3 +34 more	Copy number loss	See cases	GPathogenic
Select item 60348	GRCh38/hg38 8p23.1(chr8:9924272-11573632)x1	BLK, C8orf74 +86 more	Copy number loss	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	BLK, C8orf74 +122 more	Copy number gain	See cases	GPathogenic
Select item 58402	GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3	BLK, C8orf74 +72 more	Copy number gain	See cases	GUncertain significance
Select item 150794	GRCh38/hg38 8p23.1(chr8:10379998-10970694)x3	PINX1-DT, PRSS51 +18 more	Copy number gain	See cases	GUncertain significance
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 2567306	NM_173683.4(XKR6):c.1895A>G (p.Tyr632Cys)	XKR6 (Y632C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710433	NM_173683.4(XKR6):c.1787C>G (p.Ala596Gly)	XKR6 (A596G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253197	NM_173683.4(XKR6):c.1628C>T (p.Pro543Leu)	XKR6 (P543L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260579	NM_173683.4(XKR6):c.1543G>A (p.Glu515Lys)	XKR6 (E515K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401327	NM_173683.4(XKR6):c.1465G>A (p.Ala489Thr)	XKR6 (A489T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458661	NM_173683.4(XKR6):c.1457C>T (p.Ala486Val)	XKR6 (A486V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268875	NM_173683.4(XKR6):c.1397C>T (p.Pro466Leu)	XKR6 (P466L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624149	NM_173683.4(XKR6):c.1322G>A (p.Arg441Gln)	XKR6 (R441Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339075	NM_173683.4(XKR6):c.1208A>G (p.His403Arg)	XKR6 (H403R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459125	NM_173683.4(XKR6):c.1168G>A (p.Val390Met)	XKR6 (V390M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541638	NM_173683.4(XKR6):c.1058G>A (p.Ser353Asn)	XKR6 (S353N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214250	NM_173683.4(XKR6):c.1042G>A (p.Asp348Asn)	XKR6 (D348N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332925	NM_173683.4(XKR6):c.1028G>A (p.Arg343Gln)	XKR6 (R343Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 57156	GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	BLK, CTSB +88 more	Copy number gain	See cases	GUncertain significance
Select item 2304271	NM_173683.4(XKR6):c.674C>T (p.Ser225Phe)	LOC129999865, XKR6 (S225F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383368	NM_173683.4(XKR6):c.646G>A (p.Ala216Thr)	LOC129999865, XKR6 (A216T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534750	NM_173683.4(XKR6):c.346G>C (p.Glu116Gln)	LOC129999866, XKR6 (E116Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534749	NM_173683.4(XKR6):c.335C>A (p.Ala112Asp)	LOC129999866, XKR6 (A112D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393815	NM_173683.4(XKR6):c.325A>C (p.Thr109Pro)	LOC129999866, XKR6 (T109P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212506	NM_173683.4(XKR6):c.247C>A (p.Arg83Ser)	XKR6, LOC129999866 (R83S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534747	NM_173683.4(XKR6):c.239G>A (p.Arg80Lys)	XKR6, LOC129999866 (R80K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2207308	NM_173683.4(XKR6):c.229C>T (p.Leu77Phe)	LOC129999866, XKR6 (L77F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472186	NM_173683.4(XKR6):c.115T>G (p.Cys39Gly)	LOC129999866, XKR6 (C39G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480501	NM_173683.4(XKR6):c.89A>G (p.Glu30Gly)	LOC129999866, XKR6 (E30G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525510	NM_173683.4(XKR6):c.85G>C (p.Glu29Gln)	LOC129999866, XKR6 (E29Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063015	GRCh37/hg19 8p23.1(chr8:10783690-11882401)x3	BLK, CTSB +10 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB104B, DEFB105A +64 more	Copy number loss	not provided	GPathogenic
Select item 2684525	GRCh37/hg19 8p23.1(chr8:10416502-11323281)x3	C8orf74, FAM167A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	GPathogenic
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1807947	GRCh37/hg19 8p23.1(chr8:10688801-11010826)x3	PINX1, XKR6	Copy number gain	not provided	GUncertain significance
Select item 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	BLK, C8orf74 +29 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1807672	GRCh37/hg19 8p23.1(chr8:11025325-11250236)x3	MTMR9, SLC35G5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703667	GRCh37/hg19 8p23.1(chr8:8093168-11898980)	BLK, C8orf74 +23 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic

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