54880[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 148082	GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	LOC130067965, LOC130067966 +920 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	LOC130068369, LOC130068370 +1399 more	Copy number gain	See cases	GPathogenic
Select item 148018	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	LOC130067939, LOC130067940 +1014 more	Copy number loss	See cases	GPathogenic
Select item 145623	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	ACE2, ACE2-DT +1025 more	Copy number gain	See cases	GPathogenic
Select item 144263	GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	SYP, SYP-AS1 +984 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 59181	GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	LOC130067922, LOC130067923 +819 more	Copy number loss	See cases	GPathogenic
Select item 57339	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	LOC130068061, LOC130068062 +1023 more	Copy number loss	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 155281	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	LOC121627970, LOC121627971 +1042 more	Copy number loss	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 152052	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	VCX3A, VCX3B +1070 more	Copy number loss	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 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	ACE2, ACE2-DT +1164 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 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	LOC130068348, LOC130068349 +1164 more	Copy number loss	See cases	GPathogenic
Select item 148356	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	ZNF41, ZNF630 +1009 more	Copy number loss	See cases	GPathogenic
Select item 148339	GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	LOC130068042, LOC130068043 +910 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 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	SYP, SYP-AS1 +1164 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 144335	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	LOC130068203, LOC130068204 +1025 more	Copy number loss	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 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	CLCN4, CLCN5 +1155 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 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	ACE2, ACE2-DT +1131 more	Copy number loss	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 153302	GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	ACE2, ACE2-DT +987 more	Copy number loss	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 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	LOC130067990, LOC130067991 +1217 more	Copy number loss	See cases	GPathogenic
Select item 153753	GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	ACE2, ACE2-DT +1000 more	Copy number loss	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 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	PAGE4, PAGE5 +1164 more	Copy number loss	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 58559	GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	LOC129391299, LOC130067890 +709 more	Copy number gain	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 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	RBM10, RBM3 +1131 more	Copy number loss	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 145979	GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	ACE2, ACE2-DT +961 more	Copy number loss	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 60291	GRCh38/hg38 Xp11.4(chrX:39666120-40255787)x2	BCOR, LOC107985687 +40 more	Copy number gain	See cases	GUncertain significance
Select item 146054	GRCh38/hg38 Xp11.4(chrX:39842449-40117345)x2	BCOR, LOC107985687 +25 more	Copy number gain	See cases	GUncertain significance
Select item 10915	NC_000023.11:g.(40012195_40051245)_(40063072_40063607)del	BCOR, LOC130068113	Deletion	Oculofaciocardiodental syndrome	GPathogenic
Select item 180243	NC_000023.11:g.(?_40051246)_(40075180_?)del	BCOR, LOC126863239	Deletion	Oculofaciocardiodental syndrome	GPathogenic
Select item 1228197	NM_001123385.2(BCOR):c.299_300dup	BCOR	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 643718	NC_000023.11:g.(?_40052089)_(40077949_?)del	BCOR, LOC126863239	Deletion	Oculofaciocardiodental syndrome	GPathogenic
Select item 623154	NC_000023.11:g.(?_40052108)_(40077930_?)del	BCOR, LOC126863239	Deletion	Oculofaciocardiodental syndrome	GLikely pathogenic
Select item 3133549	NM_001123385.2(BCOR):c.5240G>T (p.Ser1747Ile)	BCOR (S1695I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133691	NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro)	BCOR (H1711P +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 699760	NM_001123385.2(BCOR):c.5193C>T (p.Asn1731=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +1 more	GBenign
Select item 696103	NM_001123385.2(BCOR):c.5190G>A (p.Thr1730=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +1 more	GBenign
Select item 386688	NM_001123385.2(BCOR):c.5174A>C (p.Asp1725Ala)	BCOR (D1691A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056354	NM_001123385.2(BCOR):c.5157A>T (p.Glu1719Asp)	BCOR (E1667D +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 2285485	NM_001123385.2(BCOR):c.5152C>T (p.Pro1718Ser)	BCOR (P1666S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1719648	NM_001123385.2(BCOR):c.5144C>T (p.Ala1715Val)	BCOR (A1663V +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 521361	NM_001123385.2(BCOR):c.5134G>A (p.Asp1712Asn)	BCOR (D1678N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253275	NM_001123385.2(BCOR):c.5129C>A (p.Ser1710Tyr)	BCOR (S1658Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312418	NM_001123385.2(BCOR):c.5062G>C (p.Glu1688Gln)	BCOR (E1636Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1581317	NM_001123385.2(BCOR):c.5058C>T (p.Asn1686=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GBenign
Select item 3133548	NM_001123385.2(BCOR):c.5057A>G (p.Asn1686Ser)	BCOR (N1634S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026745	NM_001123385.2(BCOR):c.5052T>G (p.Phe1684Leu)	BCOR (F1632L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976181	NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His)	BCOR (R1629H +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3133547	NM_001123385.2(BCOR):c.5041C>T (p.Arg1681Cys)	BCOR (R1681C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 465162	NM_001123385.2(BCOR):c.5037A>T (p.Ile1679=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome	GBenign
Select item 2660304	NM_001123385.2(BCOR):c.5035A>C (p.Ile1679Leu)	BCOR (I1627L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368139	NM_001123385.2(BCOR):c.5032C>G (p.Arg1678Gly)	BCOR (R1626G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969936	NM_001123385.2(BCOR):c.5029T>C (p.Ser1677Pro)	BCOR (S1643P +2 more)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome	GUncertain significance
Select item 3252474	NM_001123385.2(BCOR):c.5027C>T (p.Ser1676Phe)	BCOR (S1624F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032039	NM_001123385.2(BCOR):c.5014A>G (p.Lys1672Glu)	BCOR (K1620E +2 more)	Single nucleotide variant (missense variant)	BCOR-related disorder	GUncertain significance
Select item 1394962	NM_001123385.2(BCOR):c.5003_5005del (p.Asp1668del)	BCOR (D1634del +2 more)	Deletion (inframe_deletion)	Oculofaciocardiodental syndrome	GUncertain significance

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