ClinVar for Gene (Select 1349) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076487	NM_001866.3(COX7B):c.85C>T (p.Arg29Cys)	COX7B (R29C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3062549	GRCh37/hg19 Xq21.1(chrX:77145900-77174083)	ATP7A, COX7B +1 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 3049194	NM_001866.3(COX7B):c.242A>G (p.Ter81=)	COX7B	Single nucleotide variant (synonymous variant)	COX7B-related condition	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2996260	NM_001866.3(COX7B):c.74G>A (p.Ser25Asn)	COX7B (S25N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969110	NM_001866.3(COX7B):c.165+13G>A	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881696	NM_001866.3(COX7B):c.21C>A (p.Ser7Arg)	COX7B, LOC130068461 (S7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880995	NM_001866.3(COX7B):c.180C>T (p.Val60=)	COX7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764680	NM_001866.3(COX7B):c.140C>T (p.Thr47Ile)	COX7B (T47I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762405	NM_001866.3(COX7B):c.235A>G (p.Asn79Asp)	COX7B (N79D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704007	NM_001866.3(COX7B):c.160A>G (p.Thr54Ala)	COX7B (T54A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660962	NC_000023.11:g.77910289A>T	COX7B	Single nucleotide variant	not provided	GLikely benign
Select item 2660961	NC_000023.11:g.77910249G>A	ATP7A, COX7B	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 2660960	NC_000023.11:g.77910198C>G	COX7B	Single nucleotide variant	not provided	GBenign
Select item 2660959	NM_001866.3(COX7B):c.107A>G (p.Lys36Arg)	COX7B (K36R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
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	Cutis laxa, X-linked +3 more	GUncertain significance
Select item 2422243	NC_000023.10:g.(?_77150786)_(77289339_?)dup	ATP7A, COX7B +2 more	Duplication	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2176994	NM_001866.3(COX7B):c.41-5G>A	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971573	NM_001866.3(COX7B):c.169G>T (p.Ala57Ser)	COX7B (A57S)	Single nucleotide variant (missense variant)	not provided	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	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1707248	NM_001866.3(COX7B):c.165+172T>C	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1651582	NM_001866.3(COX7B):c.41-13G>A	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	HMGN5, ITM2A +49 more	Copy number gain	not specified	GUncertain significance
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	ABCB7, AMER1 +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 1373983	NC_000023.10:g.(?_77150786)_(77160758_?)dup	COX7B, MAGT1	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	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1318361	NM_001866.3(COX7B):c.*82G>T	COX7B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1318137	NM_001866.3(COX7B):c.41-226A>G	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316365	NM_001866.3(COX7B):c.165+276dup	COX7B	Duplication (intron variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1169374	NM_001866.3(COX7B):c.41-14C>T	COX7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1029387	NM_001866.3(COX7B):c.86G>A (p.Arg29His)	COX7B (R29H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 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 762251	NM_001866.3(COX7B):c.201C>T (p.Ser67=)	COX7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 688002	GRCh37/hg19 Xq21.1(chrX:77145640-77176642)x2	ATP7A, COX7B +1 more	Copy number gain	not provided	GUncertain significance
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 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	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 more	Copy number loss	not provided	GPathogenic
Select item 638343	NM_001866.3(COX7B):c.217A>G (p.Thr73Ala)	COX7B (T73A)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 2	GUncertain significance
Select item 626291	Single allele	PAGE2B, PAGE3 +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	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 559377	NM_001866.3(COX7B):c.*5C>A	COX7B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 510669	NM_001866.3(COX7B):c.-42A>G	COX7B, LOC130068461	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 449642	NM_001866.3(COX7B):c.40+5G>C	COX7B, LOC130068461	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	BEX5, BMP15 +541 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ZCCHC12, ZCCHC13 +698 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	ABCB7, ABCD1 +510 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 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	MAGEE1, MAGEE2 +733 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	ABCB7, ABCD1 +506 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +524 more	Copy number gain	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ARMCX5-GPRASP2, ARMCX6 +506 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)	ACSL4, AGTR2 +158 more	Copy number loss	See cases	GPathogenic
Select item 441631	GRCh37/hg19 Xq21.1(chrX:77145640-77173912)x3	ATP7A, COX7B +1 more	Copy number gain	See cases	GUncertain significance
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 423717	NM_001866.3(COX7B):c.7C>G (p.Pro3Ala)	LOC130068461, COX7B (P3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	EIF2S3, ELF4 +821 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	ABCB7, AKAP14 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	MAGEB17, MAGEB18 +822 more	Copy number loss	See cases	GPathogenic
Select item 386711	NM_001866.3(COX7B):c.165+10A>G	COX7B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 381408	NM_001866.3(COX7B):c.48C>A (p.Ser16Arg)	COX7B (S16R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic

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