17756[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 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 153045	GRCh38/hg38 Xq12(chrX:65901792-66733457)x2	EDA2R, HEPH +17 more	Copy number gain	See cases	GUncertain significance
Select item 155669	GRCh38/hg38 Xq12(chrX:66069949-67124285)x2	EDA2R, HEPH +7 more	Copy number gain	See cases	GUncertain significance
Select item 149006	GRCh38/hg38 Xq12(chrX:66077618-67113715)x3	EDA2R, HEPH +7 more	Copy number gain	See cases	GUncertain significance
Select item 150631	GRCh38/hg38 Xq12(chrX:66408361-66746816)x1	EDA2R, LOC126863269 +5 more	Copy number loss	See cases	GUncertain significance
Select item 145606	GRCh38/hg38 Xq12(chrX:66408361-66950527)x3	EDA2R, LOC126863269 +6 more	Copy number gain	See cases	GLikely benign
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 57651	GRCh38/hg38 Xq12(chrX:66518184-66805174)x1	EDA2R, LOC126863269 +5 more	Copy number loss	See cases	GUncertain significance
Select item 151872	GRCh38/hg38 Xq12(chrX:66548368-66716830)x3	EDA2R, LOC126863269 +4 more	Copy number gain	See cases	GLikely benign
Select item 60322	GRCh38/hg38 Xq12(chrX:66548368-66706421)x3	EDA2R, LOC126863269 +4 more	Copy number gain	See cases	GUncertain significance
Select item 60321	GRCh38/hg38 Xq12(chrX:66548368-66707636)x3	EDA2R, LOC126863269 +4 more	Copy number gain	See cases	GUncertain significance
Select item 60320	GRCh38/hg38 Xq12(chrX:66548368-66732217)x2	EDA2R, LOC126863269 +5 more	Copy number gain	See cases	GUncertain significance
Select item 147910	GRCh38/hg38 Xq12(chrX:66595648-66675114)x2	EDA2R, LOC126863269 +4 more	Copy number gain	See cases	GUncertain significance
Select item 147706	GRCh38/hg38 Xq12(chrX:66595648-66675173)x2	EDA2R, LOC126863269 +4 more	Copy number gain	See cases	GBenign
Select item 2660767	NM_021783.5(EDA2R):c.*97A>T	EDA2R	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2311786	NM_021783.5(EDA2R):c.824G>A (p.Gly275Glu)	EDA2R (G296E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087119	NM_021783.5(EDA2R):c.823G>C (p.Gly275Arg)	EDA2R (G243R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2475304	NM_021783.5(EDA2R):c.823G>A (p.Gly275Arg)	EDA2R (G243R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2358184	NM_021783.5(EDA2R):c.823G>T (p.Gly275Trp)	EDA2R (G151W +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3087118	NM_021783.5(EDA2R):c.728G>A (p.Ser243Asn)	EDA2R (S211N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 752352	NM_021783.5(EDA2R):c.726G>A (p.Glu242=)	EDA2R	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2408177	NM_021783.5(EDA2R):c.713C>A (p.Ser238Tyr)	EDA2R (S238Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087117	NM_021783.5(EDA2R):c.685C>T (p.Pro229Ser)	EDA2R (P229S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 724005	NM_021783.5(EDA2R):c.660C>T (p.Asp220=)	EDA2R	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2361498	NM_021783.5(EDA2R):c.640C>T (p.Leu214Phe)	EDA2R (L90F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259093	NM_021783.5(EDA2R):c.605C>T (p.Ser202Phe)	EDA2R (S170F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087116	NM_021783.5(EDA2R):c.602A>G (p.Glu201Gly)	EDA2R (E169G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474991	NM_021783.5(EDA2R):c.574G>A (p.Val192Met)	EDA2R (V160M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2494377	NM_021783.5(EDA2R):c.478C>T (p.Leu160Phe)	EDA2R (L126F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770018	NM_021783.5(EDA2R):c.385= (p.Thr129=)	EDA2R (A129T)	Variation (no sequence alteration +2 more)	not provided	GBenign
Select item 733938	NM_021783.5(EDA2R):c.378G>A (p.Glu126=)	EDA2R (G33S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 718792	NM_021783.5(EDA2R):c.334C>T (p.Pro112Ser)	EDA2R (P112S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 452543	NM_021783.5(EDA2R):c.329A>C (p.Gln110Pro)	EDA2R (Q110P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2404532	NM_021783.5(EDA2R):c.283C>T (p.Arg95Cys)	EDA2R (R95C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2266329	NM_021783.5(EDA2R):c.275G>A (p.Arg92Gln)	EDA2R (R92Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 39591	NM_021783.5(EDA2R):c.253del (p.Asp85fs)	EDA2R (D85fs +1 more)	Deletion (frameshift variant +2 more)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2619980	NM_021783.5(EDA2R):c.232A>C (p.Thr78Pro)	EDA2R (T78P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 709200	NM_021783.5(EDA2R):c.135T>A (p.Pro45=)	EDA2R (L40H)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3087114	NM_021783.5(EDA2R):c.134C>T (p.Pro45Leu)	EDA2R (L40F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 777793	NM_021783.5(EDA2R):c.79C>T (p.Leu27=)	EDA2R (A16V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2341285	NM_021783.5(EDA2R):c.59G>A (p.Arg20Gln)	EDA2R (G15S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3087115	NM_021783.5(EDA2R):c.44G>A (p.Cys15Tyr)	EDA2R (C15Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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