367[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	IL1RAPL1, IL2RG +1398 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068031, LOC130068032 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC110120594, LOC110120595 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130067964, LOC130067965 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	ASMT, ASMTL +1475 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC129391293, LOC129391294 +1628 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	FANCB, FGD1 +1932 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	TIMM8A, TIMP1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	FAM223B, FAM226A +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC126863207, LOC126863208 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068362, LOC130068363 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863302, LOC126863303 +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC119407406, LOC119407407 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130067921, LOC130067922 +1798 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC129391306, LOC129391307 +1493 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC126863296, LOC126863297 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068368, LOC130068369 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067891, LOC130067892 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC130068100, LOC130068101 +2585 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2046 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	ABCB7, AKAP4 +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	ABCB7, ACSL4 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	EDA2R, EFNB1 +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	LOC113875008, LOC113875009 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068588, LOC130068589 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	LOC126863270, LOC126863271 +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	LOC116309158, LOC116309159 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	GPRASP2, GPRASP3 +1464 more	Copy number loss	See cases	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +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 155090	GRCh38/hg38 Xq12(chrX:67033673-67862682)x2	AR, LOC109504725 +1 more	Copy number gain	See cases	GUncertain significance
Select item 151774	GRCh38/hg38 Xq12(chrX:67532311-68353901)x1	AR, LOC109504725 +2 more	Copy number loss	See cases	GPathogenic
Select item 2660768	NM_000044.6(AR):c.-913C>A	AR	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3042858	NM_000044.6(AR):c.-543C>A	AR	Single nucleotide variant (5 prime UTR variant)	AR-related condition	GLikely benign
Select item 1470535	NM_000044.6(AR):c.1A>T (p.Met1Leu)	AR (M1L)	Single nucleotide variant (missense variant +2 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 9841	NM_000044.6(AR):c.4G>A (p.Glu2Lys)	AR (E2K)	Single nucleotide variant (missense variant +1 more)	Partial androgen insensitivity syndrome	GPathogenic
Select item 852163	NM_000044.6(AR):c.5A>G (p.Glu2Gly)	AR (E2G)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 1488550	NM_000044.6(AR):c.7G>A (p.Val3Met)	AR (V3M)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +5 more	GConflicting classifications of pathogenicity
Select item 504141	NM_000044.6(AR):c.20_138dup (p.Ala47delinsTrpGluGlySerThrLeuGlyArgArgProArgProThrGluGluLeuSerArgIleCysSerArgAlaCysAlaLysTer)	AR	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 3062254	NM_000044.6(AR):c.35del (p.Pro12fs)	AR (P12fs)	Deletion (frameshift variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 2933125	NM_000044.6(AR):c.39G>A (p.Arg13=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GBenign
Select item 2934997	NM_000044.6(AR):c.45G>T (p.Pro15=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2930877	NM_000044.6(AR):c.45G>A (p.Pro15=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GBenign
Select item 2923962	NM_000044.6(AR):c.51G>T (p.Lys17Asn)	AR (K17N)	Single nucleotide variant (missense variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2662489	NM_000044.6(AR):c.70del (p.Gln24fs)	AR (Q24fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2938203	NM_000044.6(AR):c.87C>T (p.Ser29=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2249245	NM_000044.6(AR):c.101T>A (p.Ile34Asn)	AR (I34N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2946522	NM_000044.6(AR):c.119G>A (p.Arg40Lys)	AR (R40K)	Single nucleotide variant (missense variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2550429	NM_000044.6(AR):c.127G>C (p.Glu43Gln)	AR (E43Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 733466	NM_000044.6(AR):c.134C>G (p.Ala45Gly)	AR (A45G)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2929009	NM_000044.6(AR):c.150C>T (p.Pro50=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 958035	NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)	AR	Microsatellite (inframe_insertion +1 more)	Malignant tumor of prostate +2 more	GPathogenic
Select item 807734	NM_000044.6(AR):c.161TGC[3] (p.Leu57del)	AR (L57del)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GLikely benign
Select item 2946727	NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln)	AR	Microsatellite (inframe_insertion +2 more)	Kennedy disease +1 more	GBenign
Select item 1428356	NM_000044.6(AR):c.170AGC[8] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGlnGln)	AR	Microsatellite (inframe_insertion +1 more)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3043532	NM_000044.6(AR):c.170_184del (p.Leu57_Gln61del)	AR, LOC109504725	Deletion (inframe_deletion +1 more)	AR-related condition	GBenign
Select item 2580093	NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGln)	LOC109504725, AR	Insertion (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 2034843	NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGln)	LOC109504725, AR	Insertion (inframe_insertion +1 more)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 1403739	NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln)	AR, LOC109504725	Insertion (inframe_insertion +1 more)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 1338547	NM_000044.6(AR):c.170delinsAGCA (p.Leu57delinsGlnGln)	AR	Indel (inframe_indel +1 more)	not specified	GLikely benign
Select item 1285161	NM_000044.6(AR):c.171GCA[29] (p.Gln75_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GBenign
Select item 1200448	NM_000044.6(AR):c.171GCA[34] (p.Gln70_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	AR-related condition +1 more	GBenign/Likely benign
Select item 1189467	NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	Hypospadias 1, X-linked +5 more	GLikely benign
Select item 1168151	NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	Kennedy disease +3 more	GBenign/Likely benign
Select item 1049223	NM_000044.6(AR):c.170T>A (p.Leu57Gln)	AR (L57Q)	Single nucleotide variant (missense variant +1 more)	AR-related condition +5 more	GBenign/Likely benign
Select item 507868	NM_000044.6(AR):c.171GCA[30] (p.Gln74_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	AR-related condition +3 more	GBenign/Likely benign
Select item 464797	NM_000044.6(AR):c.171GCA[26] (p.Gln78_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 464795	NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GBenign
Select item 464794	NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not specified +2 more	GBenign/Likely benign
Select item 464788	NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln)	AR, LOC109504725	Insertion (inframe_insertion +1 more)	Kennedy disease +1 more	GLikely benign
Select item 434257	NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	Androgen resistance syndrome +3 more	GBenign/Likely benign

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