1068[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 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 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	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 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 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 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 145622	GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3	AKAP4, ARAF +309 more	Copy number gain	See cases	GPathogenic
Select item 153068	GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3	AKAP4, ARAF +328 more	Copy number gain	See cases	GPathogenic
Select item 58615	GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	AKAP4, BMP15 +213 more	Copy number gain	See cases	GPathogenic
Select item 146524	GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3	AKAP4, BMP15 +204 more	Copy number gain	See cases	GPathogenic
Select item 147668	GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2	AKAP4, BMP15 +200 more	Copy number gain	See cases	GPathogenic
Select item 146707	GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	AKAP4, ALAS2 +343 more	Copy number gain	See cases	GPathogenic
Select item 58241	GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2	AKAP4, BMP15 +199 more	Copy number gain	See cases	GPathogenic
Select item 150316	GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2	LOC130068245, LOC130068246 +198 more	Copy number gain	See cases	GPathogenic
Select item 149048	GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1	AKAP4, BMP15 +196 more	Copy number loss	See cases	GPathogenic
Select item 149047	GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3	AKAP4, BMP15 +196 more	Copy number gain	See cases	GPathogenic
Select item 153506	GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2	AKAP4, BMP15 +157 more	Copy number gain	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 57921	GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1	AKAP4, BMP15 +88 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 1696613	Single allele	BMP15, LOC121627972 +1 more	Duplication	not provided	GUncertain significance
Select item 973167	NM_005448.2(BMP15):c.-49_*34del (p.Met1fs)	BMP15 (M1fs)	Deletion (frameshift variant +3 more)	Ovarian dysgenesis 2	GPathogenic
Select item 136522	NM_005448.2(BMP15):c.-9C>G	BMP15	Single nucleotide variant (5 prime UTR variant)	Ovarian dysgenesis 2 +2 more	GBenign
Select item 549656	NC_000023.10:g.50653777_50689335del35559	BMP15	Deletion	Primary amenorrhea	GPathogenic
Select item 259774	NM_005448.2(BMP15):c.13A>C (p.Ser5Arg)	BMP15 (S5R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2396286	NM_005448.2(BMP15):c.19C>G (p.Leu7Val)	BMP15 (L7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326363	NM_005448.2(BMP15):c.23G>T (p.Arg8Ile)	BMP15 (R8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531359	NM_005448.2(BMP15):c.85G>A (p.Gly29Arg)	BMP15 (G29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 914978	NM_005448.2(BMP15):c.162C>T (p.Gly54=)	BMP15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2078651	NM_005448.2(BMP15):c.166C>T (p.Gln56Ter)	BMP15 (Q56*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 11474	NM_005448.2(BMP15):c.202C>T (p.Arg68Trp)	BMP15 (R68W)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +1 more	GConflicting classifications of pathogenicity
Select item 1256010	NM_005448.2(BMP15):c.208A>C (p.Met70Leu)	BMP15 (M70L)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 11471	NM_005448.2(BMP15):c.226C>T (p.Arg76Cys)	BMP15 (R76C)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GConflicting classifications of pathogenicity
Select item 3134510	NM_005448.2(BMP15):c.262C>T (p.Arg88Cys)	BMP15 (R88C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239510	NM_005448.2(BMP15):c.269T>C (p.Ile90Thr)	BMP15 (I90T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 136523	NM_005448.2(BMP15):c.308A>G (p.Asn103Ser)	BMP15 (N103S)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +2 more	GBenign
Select item 1292837	NM_005448.2(BMP15):c.329-74A>C	BMP15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3049277	NM_005448.2(BMP15):c.409T>A (p.Tyr137Asn)	BMP15 (Y137N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1685573	NM_005448.2(BMP15):c.413G>A (p.Arg138His)	BMP15 (R138H)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic
Select item 368538	NM_005448.2(BMP15):c.443T>C (p.Leu148Pro)	BMP15 (L148P)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +1 more	GBenign/Likely benign
Select item 973166	NM_005448.2(BMP15):c.462del (p.Trp155fs)	BMP15 (W155fs)	Deletion (frameshift variant)	Ovarian dysgenesis 2	GLikely pathogenic
Select item 914979	NM_005448.2(BMP15):c.520C>T (p.Pro174Ser)	BMP15 (P174S)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GLikely benign

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