25726[HGNC] - 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 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	LOC130067990, LOC130067991 +1217 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 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 10706	NC_000023.11:g.(57537466_63428182)_(65235775_65512709)del	AMER1, ARHGEF9 +36 more	Deletion	Osteopathia striata with cranial sclerosis	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 58639	GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2	AMER1, AR +120 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 1679798	Single allele	LAS1L, LOC113875034 +2 more	Duplication	Wilson-Turner syndrome	GUncertain significance
Select item 2886007	NM_031206.7(LAS1L):c.2176G>A (p.Gly726Arg)	LAS1L (G407R +5 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2246253	NM_031206.7(LAS1L):c.2170C>A (p.Leu724Met)	LAS1L (L707M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2992367	NM_031206.7(LAS1L):c.2166G>A (p.Gly722=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2552311	NM_031206.7(LAS1L):c.2117G>A (p.Cys706Tyr)	LAS1L (C688Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2856637	NM_031206.7(LAS1L):c.2104G>A (p.Gly702Ser)	LAS1L (G701S +5 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 722870	NM_031206.7(LAS1L):c.2079-8C>T	LAS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262305	NM_031206.7(LAS1L):c.2078+257TG[17]	LAS1L	Microsatellite (intron variant)	not provided	GBenign
Select item 1286897	NM_031206.7(LAS1L):c.2078+257TG[15]	LAS1L	Microsatellite (intron variant)	not provided	GBenign
Select item 2042094	NM_031206.7(LAS1L):c.2061C>G (p.Pro687=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome +1 more	GBenign/Likely benign
Select item 2441728	NM_031206.7(LAS1L):c.2057A>G (p.Glu686Gly)	LAS1L (E367G +5 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1005027	NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln)	LAS1L (R365Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 464824	NM_031206.7(LAS1L):c.2050C>T (p.Arg684Trp)	LAS1L (R684W +5 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 384751	NM_031206.7(LAS1L):c.2047C>T (p.Gln683Ter)	LAS1L (Q683* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1313444	NM_031206.7(LAS1L):c.2034G>C (p.Gln678His)	LAS1L (Q359H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1661817	NM_031206.7(LAS1L):c.2022T>C (p.Tyr674=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 2488775	NM_031206.7(LAS1L):c.2021A>G (p.Tyr674Cys)	LAS1L (Y673C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3027344	NM_031206.7(LAS1L):c.1989A>G (p.Ala663=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 432625	NM_031206.7(LAS1L):c.1961G>T (p.Arg654Leu)	LAS1L (R654L +5 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 1259031	NM_031206.7(LAS1L):c.1927+154T>C	LAS1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169775	NM_031206.7(LAS1L):c.1927+9del	LAS1L	Deletion (intron variant)	Wilson-Turner syndrome	GBenign
Select item 1131100	NM_031206.7(LAS1L):c.1911A>G (p.Ala637=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome +1 more	GLikely benign
Select item 2328893	NM_031206.7(LAS1L):c.1894G>A (p.Ala632Thr)	LAS1L (A573T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 760134	NM_031206.7(LAS1L):c.1893A>C (p.Gly631=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 464823	NM_031206.7(LAS1L):c.1892G>C (p.Gly631Ala)	LAS1L (G631A +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 1402244	NM_031206.7(LAS1L):c.1889G>T (p.Arg630Ile)	LAS1L (R311I +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1690406	NM_031206.7(LAS1L):c.1871G>A (p.Arg624Lys)	LAS1L (R305K +3 more)	Single nucleotide variant (missense variant +1 more)	See cases +3 more	GUncertain significance
Select item 1572603	NM_031206.7(LAS1L):c.1860C>T (p.Ala620=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 712670	NM_031206.7(LAS1L):c.1851C>T (p.Ser617=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1206216	NM_031206.7(LAS1L):c.1850C>A (p.Ser617Tyr)	LAS1L (S298Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1056523	NM_031206.7(LAS1L):c.1837A>G (p.Thr613Ala)	LAS1L (T294A +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2169683	NM_031206.7(LAS1L):c.1822G>T (p.Val608Leu)	LAS1L (V289L +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1582618	NM_031206.7(LAS1L):c.1806G>A (p.Glu602=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 702347	NM_031206.7(LAS1L):c.1788TGATGAAGA[1] (p.596DDE[1])	LAS1L	Microsatellite (inframe_deletion +1 more)	Wilson-Turner syndrome +1 more	GBenign/Likely benign
Select item 533410	NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del)	LAS1L (D597del +3 more)	Microsatellite (inframe_deletion +1 more)	Wilson-Turner syndrome	GBenign
Select item 1701638	NM_031206.7(LAS1L):c.1764AGAGGAGGA[1] (p.Glu591_Glu593del)	LAS1L	Microsatellite (inframe_deletion +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1114588	NM_031206.7(LAS1L):c.1770G>A (p.Glu590=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 2578058	NM_031206.7(LAS1L):c.1740GGA[2] (p.Glu584del)	LAS1L (E265del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2507140	NM_031206.7(LAS1L):c.1739A>C (p.Glu580Ala)	LAS1L (E261A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 464822	NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile)	LAS1L (V579I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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