1349[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130067920, LOC130067921 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068153, LOC130068154 +1933 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC125467739, LOC125467740 +1494 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	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 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2047 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	IGBP1, IL2RG +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068457, LOC130068458 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068612, LOC130068613 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC126863288, LOC126863289 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068438, LOC130068439 +1464 more	Copy number loss	See cases	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 154251	GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	ABCB7, AR +206 more	Copy number gain	See cases	GPathogenic
Select item 145624	GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	ABCB7, ABCD1 +1254 more	Copy number loss	See cases	GPathogenic
Select item 155357	GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	ABCB7, ABCD1 +1249 more	Copy number loss	See cases	GPathogenic
Select item 148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	LOC130068496, LOC130068497 +1244 more	Copy number loss	See cases	GPathogenic
Select item 155065	GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	MCTS1, MECP2 +1229 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	ABCD1, ACSL4 +1230 more	Copy number loss	See cases	GPathogenic
Select item 146131	GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	LOC126863325, LOC126863326 +1225 more	Copy number loss	See cases	GPathogenic
Select item 144216	GRCh38/hg38 Xq21.1(chrX:77768771-77928775)x3	ATP7A, ATRX +7 more	Copy number gain	See cases	GUncertain significance
Select item 149224	GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x3	ATP7A, ATRX +7 more	Copy number gain	See cases	GUncertain significance
Select item 149222	GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x2	ATP7A, ATRX +7 more	Copy number gain	See cases	GUncertain significance
Select item 57068	GRCh38/hg38 Xq21.1(chrX:77784830-78691660)x2	ATP7A, ATRX +20 more	Copy number gain	See cases	GPathogenic
Select item 60334	GRCh38/hg38 Xq21.1(chrX:77829855-78514258)x3	ATP7A, COX7B +15 more	Copy number gain	See cases	GUncertain significance
Select item 58660	GRCh38/hg38 Xq21.1(chrX:77829855-77902263)x2	COX7B, LOC130068460 +2 more	Copy number gain	See cases	GPathogenic
Select item 152250	GRCh38/hg38 Xq21.1(chrX:77896695-77914768)x3	ATP7A, COX7B +1 more	Copy number gain	See cases	Gconflicting data from submitters
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 423717	NM_001866.3(COX7B):c.7C>G (p.Pro3Ala)	LOC130068461, COX7B (P3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 449642	NM_001866.3(COX7B):c.40+5G>C	COX7B, LOC130068461	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1318137	NM_001866.3(COX7B):c.41-226A>G	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 146338	GRCh38/hg38 Xq21.1(chrX:77902592-78039013)x1	ATP7A, COX7B +1 more	Copy number loss	See cases	GUncertain significance
Select item 1169374	NM_001866.3(COX7B):c.41-14C>T	COX7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1651582	NM_001866.3(COX7B):c.41-13G>A	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2176994	NM_001866.3(COX7B):c.41-5G>A	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 39768	NM_001866.3(COX7B):c.41-2A>G	COX7B	Single nucleotide variant (splice acceptor variant)	Linear skin defects with multiple congenital anomalies 2	GPathogenic
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 39769	NM_001866.2(COX7B):c.55C>T (p.Gln19Ter)	COX7B (Q19*)	Single nucleotide variant (nonsense)	Linear skin defects with multiple congenital anomalies 2	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 3076487	NM_001866.3(COX7B):c.85C>T (p.Arg29Cys)	COX7B (R29C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 2764680	NM_001866.3(COX7B):c.140C>T (p.Thr47Ile)	COX7B (T47I)	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 386711	NM_001866.3(COX7B):c.165+10A>G	COX7B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2969110	NM_001866.3(COX7B):c.165+13G>A	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707248	NM_001866.3(COX7B):c.165+172T>C	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 1971573	NM_001866.3(COX7B):c.169G>T (p.Ala57Ser)	COX7B (A57S)	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 39767	NM_001866.3(COX7B):c.196del (p.Leu66fs)	COX7B (L66fs)	Deletion (frameshift variant)	Linear skin defects with multiple congenital anomalies 2	GPathogenic
Select item 762251	NM_001866.3(COX7B):c.201C>T (p.Ser67=)	COX7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2762405	NM_001866.3(COX7B):c.235A>G (p.Asn79Asp)	COX7B (N79D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049194	NM_001866.3(COX7B):c.242A>G (p.Ter81=)	COX7B	Single nucleotide variant (synonymous variant)	COX7B-related disorder	GLikely benign
Select item 559377	NM_001866.3(COX7B):c.*5C>A	COX7B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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