3028[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 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 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 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 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 153068	GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3	AKAP4, ARAF +328 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 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 58616	GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2	BMP15, CENPVL1 +77 more	Copy number gain	See cases	GPathogenic
Select item 153755	GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1	ALAS2, APEX2 +162 more	Copy number loss	See cases	GPathogenic
Select item 58617	GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3	ALAS2, APEX2 +162 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	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 149318	GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3	FAM156A, GPR173 +29 more	Copy number gain	See cases	GUncertain significance
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 153262	GRCh38/hg38 Xp11.22(chrX:53339720-53764162)x1	HSD17B10, HUWE1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 154438	GRCh38/hg38 Xp11.22(chrX:53374635-53878183)x3	HSD17B10, HUWE1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 60310	GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3	HSD17B10, HUWE1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 147875	GRCh38/hg38 Xp11.22(chrX:53403791-53795603)x2	HSD17B10, HUWE1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 58637	GRCh38/hg38 Xp11.22(chrX:53403791-54030240)x2	LOC126863264, HSD17B10 +18 more	Copy number gain	See cases	GPathogenic
Select item 1804315	NC_000023.11:g.53430940T>A	HSD17B10, RIBC1 (N364K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1336966	NM_004493.3(HSD17B10):c.*9G>C	HSD17B10	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1303697	NM_004493.3(HSD17B10):c.772C>T (p.Arg258Cys)	HSD17B10 (R249C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973446	NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met)	HSD17B10 (I251M +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 2714660	NM_004493.3(HSD17B10):c.750C>T (p.Val250=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 11446	NM_004493.3(HSD17B10):c.745G>C (p.Glu249Gln)	HSD17B10 (E249Q +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GPathogenic
Select item 3022727	NM_004493.3(HSD17B10):c.741T>C (p.Asn247=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 11444	NM_004493.3(HSD17B10):c.740A>G (p.Asn247Ser)	HSD17B10 (N247S +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GPathogenic
Select item 2431021	NM_004493.3(HSD17B10):c.731C>A (p.Pro244Gln)	HSD17B10 (P235Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004608	NM_004493.3(HSD17B10):c.723C>T (p.Ile241=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855492	NM_004493.3(HSD17B10):c.711A>G (p.Val237=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254132	NM_004493.3(HSD17B10):c.709G>A (p.Val237Ile)	HSD17B10 (V228I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776725	NM_004493.3(HSD17B10):c.708C>T (p.Leu236=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502293	NM_004493.3(HSD17B10):c.706C>T (p.Leu236Phe)	HSD17B10 (L227F +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 2699064	NM_004493.3(HSD17B10):c.693T>A (p.Ala231=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163713	NM_004493.3(HSD17B10):c.685G>A (p.Asp229Asn)	HSD17B10 (D220N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 496894	NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln)	HSD17B10 (R217Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2000498	NM_004493.3(HSD17B10):c.666C>T (p.Pro222=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327475	NM_004493.3(HSD17B10):c.660A>C (p.Gln220His)	HSD17B10 (Q211H +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 2818411	NM_004493.3(HSD17B10):c.636A>G (p.Lys212=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 280839	NM_004493.3(HSD17B10):c.634A>G (p.Lys212Glu)	HSD17B10 (K212E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1802990	NM_004493.3(HSD17B10):c.628C>G (p.Pro210Ala)	HSD17B10 (P201A +1 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 435468	NM_004493.3(HSD17B10):c.600G>C (p.Leu200=)	HSD17B10	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2869503	NM_004493.3(HSD17B10):c.596-8T>C	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851210	NM_004493.3(HSD17B10):c.596-11A>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808538	NM_004493.3(HSD17B10):c.596-13C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign

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