ClinVar for Gene (Select 441531) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3305927	NM_001029891.3(PGAM4):c.106G>A (p.Glu36Lys)	ATP7A, PGAM4 (E36K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305925	NM_001029891.3(PGAM4):c.538C>T (p.Arg180Cys)	ATP7A, PGAM4 (R180C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244761	NC_000023.10:g.(?_76829695)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 3244508	NC_000023.10:g.(?_76890065)_(77302067_?)dup	ATP7A, ATRX +3 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244497	NC_000023.10:g.(?_76907584)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244475	NC_000023.10:g.(?_76972588)_(77302067_?)del	ATP7A, ATRX +3 more	Deletion	Menkes kinky-hair syndrome +3 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3211631	NM_001029891.3(PGAM4):c.41G>A (p.Ser14Asn)	ATP7A, PGAM4 (S14N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211630	NM_001029891.3(PGAM4):c.364C>T (p.Pro122Ser)	ATP7A, PGAM4 (P122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062498	GRCh37/hg19 Xq21.1(chrX:77224405-77392096)	ATP7A, PGAM4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685711	GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	ABCB7, APOOL +39 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2684995	GRCh37/hg19 Xq21.1(chrX:76904751-77314965)x3	ATP7A, ATRX +3 more	Copy number gain	not provided	GUncertain significance
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660963	NM_000052.7(ATP7A):c.-21-2105G>A	ATP7A, PGAM4 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2552648	NM_001029891.3(PGAM4):c.713C>T (p.Thr238Met)	ATP7A, PGAM4 (T238M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517925	NM_001029891.3(PGAM4):c.412A>G (p.Lys138Glu)	ATP7A, PGAM4 (K138E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2478999	NM_001029891.3(PGAM4):c.256C>A (p.Arg86Ser)	ATP7A, PGAM4 (R86S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478375	NM_001029891.3(PGAM4):c.169A>G (p.Thr57Ala)	ATP7A, PGAM4 (T57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427018	NC_000023.10:g.(?_77084697)_(77268629_?)del	ATP7A, COX7B +2 more	Deletion	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic
Select item 2427017	NC_000023.10:g.(?_76763829)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2422244	NC_000023.10:g.(?_76888675)_(77264780_?)dup	ATP7A, ATRX +3 more	Duplication	X-linked distal spinal muscular atrophy type 3 +3 more	GUncertain significance
Select item 2422243	NC_000023.10:g.(?_77150786)_(77289339_?)dup	ATP7A, COX7B +2 more	Duplication	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2381792	NM_001029891.3(PGAM4):c.28C>T (p.Arg10Trp)	ATP7A, PGAM4 (R10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328655	NM_001029891.3(PGAM4):c.229A>T (p.Met77Leu)	ATP7A, PGAM4 (M77L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299927	NM_001029891.3(PGAM4):c.550G>A (p.Ala184Thr)	ATP7A, PGAM4 (A184T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297605	NM_001029891.3(PGAM4):c.286A>G (p.Thr96Ala)	ATP7A, PGAM4 (T96A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808392	GRCh37/hg19 Xq21.1(chrX:76646315-77386337)x3	ATP7A, ATRX +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808030	GRCh37/hg19 Xq13.3-21.1(chrX:75463914-77297280)x3	ATP7A, PGAM4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526819	GRCh37/hg19 Xq21.1(chrX:77212971-77537309)	ATP7A, CYSLTR1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526817	GRCh37/hg19 Xq21.1(chrX:77098874-77442894)	ATP7A, COX7B +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526815	GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	APOOL, ABCB7 +49 more	Copy number gain	not specified	GUncertain significance
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	AWAT1, AWAT2 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	NALF2, NAP1L2 +92 more	Copy number gain	not specified	GPathogenic
Select item 1514256	NC_000023.10:g.(?_77112834)_(77381327_?)dup	ATP7A, COX7B +3 more	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1184285	NC_000023.11:g.77957506_78280549dup	ATP7A, CYSLTR1 +9 more	Duplication	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 832502	NC_000023.10:g.(?_77084697)_(77264780_?)dup	ATP7A, COX7B +2 more	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 816362	GRCh37/hg19 Xq21.1(chrX:76707749-77398963)x2	TAF9B, COX7B +6 more	Copy number gain	not provided	GUncertain significance
Select item 804036	NM_000052.7(ATP7A):c.-21-2239C>T	ATP7A, PGAM4 (R86H)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +1 more	GBenign
Select item 688179	GRCh37/hg19 Xq21.1(chrX:77216310-77325123)x2	ATP7A, PGAM4	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 686630	GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1	APOOL, ATP7A +34 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564861	GRCh37/hg19 Xq21.1(chrX:76902857-77454045)x2	PGAM4, TAF9B +5 more	Copy number gain	not provided	GPathogenic
Select item 564860	GRCh37/hg19 Xq21.1(chrX:76820808-78113526)x3	ATP7A, ATRX +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	NAA10, NALF2 +509 more	Copy number gain	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442751	GRCh37/hg19 Xq21.1(chrX:77212971-77537309)x3	ATP7A, CYSLTR1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442689	GRCh37/hg19 Xq21.1(chrX:77136497-77331185)x1	ATP7A, COX7B +2 more	Copy number loss	See cases	GUncertain significance
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	OR13H1, OTUD6A +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +523 more	Copy number gain	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	YIPF6, ZBTB33 +505 more	Copy number gain	See cases	GPathogenic
Select item 442018	GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	ABCB7, AMER1 +104 more	Copy number loss	See cases	GPathogenic
Select item 441963	GRCh37/hg19 Xq21.1(chrX:76959723-77242763)x3	ATP7A, ATRX +3 more	Copy number gain	See cases	GLikely pathogenic
Select item 441843	GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	PLP1, PLS3 +158 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	TCEAL8, TCEAL9 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic

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