139285[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 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 154689	GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3	LOC130068353, LOC130068354 +169 more	Copy number gain	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 58638	GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2	AMER1, ARHGEF9 +65 more	Copy number gain	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 57007	GRCh38/hg38 Xq11.1-11.2(chrX:63514988-64270642)x3	AMER1, ARHGEF9 +11 more	Copy number gain	See cases	GUncertain significance
Select item 60319	GRCh38/hg38 Xq11.2(chrX:64145374-64905930)x3	AMER1, ASB12 +7 more	Copy number gain	See cases	GUncertain significance
Select item 720216	NM_152424.4(AMER1):c.3408G>A (p.Ter1136=)	AMER1	Single nucleotide variant (synonymous variant)	Osteopathia striata with cranial sclerosis +1 more	GBenign/Likely benign
Select item 992343	NM_152424.4(AMER1):c.3406T>C (p.Ter1136Gln)	AMER1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2785968	NM_152424.4(AMER1):c.3377C>T (p.Ser1126Phe)	AMER1 (S1126F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703799	NM_152424.4(AMER1):c.3375C>T (p.Ser1125=)	AMER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431812	NM_152424.4(AMER1):c.3369C>G (p.Ser1123Arg)	AMER1 (S1123R)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 1937096	NM_152424.4(AMER1):c.3358C>T (p.Leu1120Phe)	AMER1 (L1120F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 749505	NM_152424.4(AMER1):c.3336G>A (p.Glu1112=)	AMER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1566068	NM_152424.4(AMER1):c.3330A>G (p.Ser1110=)	AMER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1030260	NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr)	AMER1 (S1110T)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2439013	NM_152424.4(AMER1):c.3286C>T (p.Gln1096Ter)	AMER1 (Q1096*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2860087	NM_152424.4(AMER1):c.3277G>A (p.Glu1093Lys)	AMER1 (E1093K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930140	NM_152424.4(AMER1):c.3274C>T (p.Pro1092Ser)	AMER1 (P1092S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756273	NM_152424.4(AMER1):c.3273G>A (p.Arg1091=)	AMER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 133493	NM_152424.4(AMER1):c.3271C>T (p.Arg1091Trp)	AMER1 (R1091W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2439016	NM_152424.4(AMER1):c.3266G>C (p.Arg1089Thr)	AMER1 (R1089T)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis	GUncertain significance
Select item 2415802	NM_152424.4(AMER1):c.3265A>G (p.Arg1089Gly)	AMER1 (R1089G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922695	NM_152424.4(AMER1):c.3248G>T (p.Gly1083Val)	AMER1 (G1083V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950483	NM_152424.4(AMER1):c.3228G>A (p.Lys1076=)	AMER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 998120	NM_152424.4(AMER1):c.3226A>T (p.Lys1076Ter)	AMER1 (K1076*)	Single nucleotide variant (nonsense)	Colorectal cancer	GPathogenic
Select item 1383015	NM_152424.4(AMER1):c.3223G>A (p.Ala1075Thr)	AMER1 (A1075T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428941	NM_152424.4(AMER1):c.3215dup (p.Pro1073fs)	AMER1 (P1073fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2274995	NM_152424.4(AMER1):c.3215T>C (p.Leu1072Pro)	AMER1 (L1072P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2867219	NM_152424.4(AMER1):c.3198C>T (p.Gly1066=)	AMER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805786	NM_152424.4(AMER1):c.3176G>A (p.Ser1059Asn)	AMER1 (S1059N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837922	NM_152424.4(AMER1):c.3174del (p.Ser1059fs)	AMER1 (S1059fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2971727	NM_152424.4(AMER1):c.3171G>C (p.Glu1057Asp)	AMER1 (E1057D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007917	NM_152424.4(AMER1):c.3161C>T (p.Pro1054Leu)	AMER1 (P1054L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890710	NM_152424.4(AMER1):c.3151G>A (p.Val1051Met)	AMER1 (V1051M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363486	NM_152424.4(AMER1):c.3149A>G (p.Asp1050Gly)	AMER1 (D1050G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184137	NM_152424.4(AMER1):c.3145C>T (p.Arg1049Ter)	AMER1 (R1049*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 2745485	NM_152424.4(AMER1):c.3136G>A (p.Ala1046Thr)	AMER1 (A1046T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908991	NM_152424.4(AMER1):c.3130A>T (p.Met1044Leu)	AMER1 (M1044L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1691269	NM_152424.4(AMER1):c.3130A>G (p.Met1044Val)	AMER1 (M1044V)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis +1 more	GUncertain significance
Select item 3022910	NM_152424.4(AMER1):c.3129C>T (p.Ser1043=)	AMER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 133490	NM_152424.4(AMER1):c.3127A>G (p.Ser1043Gly)	AMER1 (S1043G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2030684	NM_152424.4(AMER1):c.3123C>G (p.Ser1041=)	AMER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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