8473[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 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	LOC130068369, LOC130068370 +1399 more	Copy number gain	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 155064	GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1	ABCB7, AMER1 +269 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 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	FTX, GCNA +175 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 155458	GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2	LOC130068418, LOC130068419 +44 more	Copy number gain	See cases	GUncertain significance
Select item 155235	GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2	CXCR3, CXorf49 +45 more	Copy number gain	See cases	GUncertain significance
Select item 1301234	NM_181672.3(OGT):c.3G>A (p.Met1Ile)	LOC126863277, OGT (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2759272	NM_181672.3(OGT):c.19A>C (p.Asn7His)	LOC126863277, OGT (N7H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304686	NM_181672.3(OGT):c.28G>A (p.Asp10Asn)	LOC126863277, OGT (D10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444810	NM_181672.3(OGT):c.51T>C (p.Arg17=)	OGT	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2444819	NM_181672.3(OGT):c.66A>G (p.Gln22=)	OGT	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2582047	NM_181672.3(OGT):c.85C>T (p.His29Tyr)	OGT (H19Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442184	NM_181672.3(OGT):c.140T>G (p.Leu47Arg)	OGT (L37R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 2660884	NM_181672.3(OGT):c.161A>G (p.Asn54Ser)	OGT (N44S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2538306	NM_181672.3(OGT):c.210G>T (p.Arg70Ser)	OGT (R70S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2054498	NM_181672.3(OGT):c.218+16del	OGT	Deletion (intron variant)	not provided	GBenign
Select item 2502553	NM_181672.3(OGT):c.241G>A (p.Ala81Thr)	OGT (A71T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3204163	NM_181672.3(OGT):c.259C>G (p.Leu87Val)	OGT (L77V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521426	NM_181672.3(OGT):c.307G>A (p.Gly103Arg)	OGT (G103R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2909471	NM_181672.3(OGT):c.313T>C (p.Leu105=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656734	NM_181672.3(OGT):c.345A>C (p.Ala115=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 638525	NM_181672.3(OGT):c.349C>T (p.Arg117Cys)	OGT (R107C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106 +1 more	GUncertain significance
Select item 2506734	NM_181672.3(OGT):c.352C>T (p.Leu118Phe)	OGT (L108F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253494	NM_181672.3(OGT):c.412G>A (p.Asp138Asn)	OGT (D128N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033236	NM_181672.3(OGT):c.420A>T (p.Glu140Asp)	OGT (E140D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 3027080	NM_181672.3(OGT):c.427G>A (p.Val143Ile)	OGT (V133I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801103	NM_181672.3(OGT):c.458A>G (p.Asn153Ser)	OGT (N143S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 428572	NM_181672.3(OGT):c.463-6T>G	OGT	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 106	GPathogenic
Select item 1312795	NM_181672.3(OGT):c.464A>T (p.Asp155Val)	OGT (D145V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061687	NM_181672.3(OGT):c.522A>C (p.Glu174Asp)	OGT (E164D +1 more)	Single nucleotide variant (missense variant)	OGT-related disorder	GUncertain significance
Select item 1684974	NM_181672.3(OGT):c.531+6T>C	OGT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2076130	NM_181672.3(OGT):c.552T>C (p.Ile184=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1319673	NM_181672.3(OGT):c.563C>T (p.Pro188Leu)	OGT (P178L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1709135	NM_181672.3(OGT):c.596G>A (p.Cys199Tyr)	OGT (C189Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 3302237	NM_181672.3(OGT):c.620T>C (p.Ile207Thr)	OGT (I197T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2906955	NM_181672.3(OGT):c.684T>C (p.Tyr228=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3368344	NM_181672.3(OGT):c.713C>G (p.Ala238Gly)	OGT (A228G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533688	NM_181672.3(OGT):c.729-16G>A	OGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3253193	NM_181672.3(OGT):c.755T>A (p.Leu252Gln)	OGT (L242Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804282	NM_181672.3(OGT):c.762G>C (p.Leu254Phe)	OGT (L244F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GPathogenic
Select item 428570	NM_181672.3(OGT):c.762G>T (p.Leu254Phe)	OGT (L254F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GPathogenic
Select item 208705	NM_181672.3(OGT):c.775G>A (p.Ala259Thr)	OGT (A249T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745173	NM_181672.3(OGT):c.835A>G (p.Ile279Val)	OGT (I269V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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