OPHN1[gene] - 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 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 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 151774	GRCh38/hg38 Xq12(chrX:67532311-68353901)x1	AR, LOC109504725 +2 more	Copy number loss	See cases	GPathogenic
Select item 60323	GRCh38/hg38 Xq12(chrX:67585642-68127021)x3	AR, LOC113875036 +1 more	Copy number gain	See cases	GUncertain significance
Select item 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	FTX, GCNA +175 more	Copy number gain	See cases	GPathogenic
Select item 155294	GRCh38/hg38 Xq12(chrX:67676484-68288063)x4	AR, LOC113875036 +1 more	Copy number gain	See cases	GUncertain significance
Select item 147913	GRCh38/hg38 Xq12(chrX:67956726-68353960)x3	OPHN1	Copy number gain	See cases	GBenign
Select item 1295364	NM_002547.3(OPHN1):c.*8+241A>G	OPHN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575686	NM_002547.3(OPHN1):c.2401G>T (p.Glu801Ter)	OPHN1 (E801*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2536254	NM_002547.3(OPHN1):c.2392C>T (p.Pro798Ser)	OPHN1 (P798S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2727917	NM_002547.3(OPHN1):c.2388A>T (p.Arg796Ser)	OPHN1 (R796S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014000	NM_002547.3(OPHN1):c.2385C>A (p.Gly795=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310147	NM_002547.3(OPHN1):c.2380C>T (p.Gln794Ter)	OPHN1 (Q794*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2043076	NM_002547.3(OPHN1):c.2376-19C>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674158	NM_002547.3(OPHN1):c.2376-77G>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260443	NM_002547.3(OPHN1):c.2375+235_2375+236dup	OPHN1	Duplication (intron variant)	not provided	GBenign
Select item 1243835	NM_002547.3(OPHN1):c.2375+235dup	OPHN1	Duplication (intron variant)	not provided	GBenign
Select item 3016922	NM_002547.3(OPHN1):c.2375+9T>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016923	NM_002547.3(OPHN1):c.2375+7T>G	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2057212	NM_002547.3(OPHN1):c.2375+7T>C	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 225074	NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln)	OPHN1 (R788Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome +2 more	GUncertain significance
Select item 378314	NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)	OPHN1 (R788W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 791670	NM_002547.3(OPHN1):c.2325-4G>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770842	NM_002547.3(OPHN1):c.2325-8G>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724726	NM_002547.3(OPHN1):c.2325-19G>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169148	NM_002547.3(OPHN1):c.2324+20A>C	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 195675	NM_002547.3(OPHN1):c.2324+10G>T	OPHN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1485068	NM_002547.3(OPHN1):c.2320T>C (p.Ser774Pro)	OPHN1 (S774P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995148	NM_002547.3(OPHN1):c.2316A>G (p.Thr772=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1978422	NM_002547.3(OPHN1):c.2315C>T (p.Thr772Ile)	OPHN1 (T772I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490885	NM_002547.3(OPHN1):c.2310A>T (p.Glu770Asp)	OPHN1 (E770D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 195674	NM_002547.3(OPHN1):c.2307G>A (p.Gly769=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 507024	NM_002547.3(OPHN1):c.2303C>T (p.Ala768Val)	OPHN1 (A768V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1305855	NM_002547.3(OPHN1):c.2288T>C (p.Ile763Thr)	OPHN1 (I763T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730879	NM_002547.3(OPHN1):c.2275C>G (p.Pro759Ala)	OPHN1 (P759A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957587	NM_002547.3(OPHN1):c.2265A>G (p.Gln755=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805100	NM_002547.3(OPHN1):c.2249G>A (p.Arg750Gln)	OPHN1 (R750Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856340	NM_002547.3(OPHN1):c.2248C>T (p.Arg750Trp)	OPHN1 (R750W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1215049	NM_002547.3(OPHN1):c.2231C>T (p.Pro744Leu)	OPHN1 (P744L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001466	NM_002547.3(OPHN1):c.2224G>T (p.Val742Leu)	OPHN1 (V742L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991431	NM_002547.3(OPHN1):c.2220C>G (p.Pro740=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660778	NM_002547.3(OPHN1):c.2217C>A (p.Arg739=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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