2705[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 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 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	LINC00891, LOC100132741 +175 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 155458	GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2	CXCR3, CXorf65 +44 more	Copy number gain	See cases	GUncertain significance
Select item 155235	GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2	CXCR3, CXorf49 +45 more	Copy number gain	See cases	GUncertain significance
Select item 547085	NM_000166.6(GJB1):c.-17G>C	GJB1	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GUncertain significance
Select item 255410	NM_001097642.3(GJB1):c.-16-697G>A	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GBenign
Select item 1203086	NM_001097642.3(GJB1):c.-16-613C>T	GJB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676171	NM_001097642.3(GJB1):c.-16-580T>G	GJB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 654107	NC_000023.11:g.(?_71223168)_(71224569_?)del	GJB1	Deletion	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 477588	NC_000023.11:g.(?_71223168)_(71224579_?)del	GJB1	Deletion	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 406227	NM_001097642.3(GJB1):c.-16-524C>G	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 429946	NM_001097642.3(GJB1):c.-16-523_-16-519delinsCAAGT	GJB1	Indel (intron variant)	not provided	GUncertain significance
Select item 543921	NM_001097642.3(GJB1):c.-16-513T>C	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 10445	NM_001097642.3(GJB1):c.-16-513T>G	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 2033849	NM_001097642.3(GJB1):c.-16-511G>T	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 10449	NM_001097642.3(GJB1):c.-16-511G>C	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 972701	NM_001097642.3(GJB1):c.-16-475C>G	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 368623	NM_000166.6(GJB1):c.-128G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 3049465	NM_000166.6(GJB1):c.-109C>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	GJB1-related condition	GLikely benign
Select item 217166	NM_000166.6(GJB1):c.-103C>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 913594	NM_000166.6(GJB1):c.-102G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 380606	NM_000166.6(GJB1):c.-101C>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 384473	NM_000166.6(GJB1):c.-77G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign/Likely benign
Select item 1807291	NM_000166.6(GJB1):c.-45G>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 246214	NM_000166.6(GJB1):c.-27C>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 246014	NM_000166.6(GJB1):c.-17G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 2772907	NM_000166.6(GJB1):c.-17+2T>G	GJB1	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 995075	NM_000166.6(GJB1):c.-17+10C>A	GJB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 380814	NM_000166.6(GJB1):c.-17+116C>T	GJB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1203066	NM_000166.6(GJB1):c.-16-82G>C	GJB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857643	NM_000166.6(GJB1):c.-16-35_264del	GJB1	Deletion (splice acceptor variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 1503563	NM_000166.6(GJB1):c.-16-8_-12del	GJB1	Deletion (splice acceptor variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 3033332	NM_000166.6(GJB1):c.-16-4G>T	GJB1	Single nucleotide variant (intron variant)	GJB1-related condition	GLikely benign
Select item 637570	NM_000166.6(GJB1):c.-16-3C>G	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 243072	NM_000166.6(GJB1):c.-16-2A>G	GJB1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 2138603	NM_000166.6(GJB1):c.-16-1G>A	GJB1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 368624	NM_000166.6(GJB1):c.-6G>A	GJB1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 2431056	NM_000166.6(GJB1):c.1A>G (p.Met1Val)	GJB1 (M1V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GPathogenic/Likely pathogenic
Select item 637219	NM_000166.6(GJB1):c.1A>T (p.Met1Leu)	GJB1 (M1L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 1074879	NM_000166.6(GJB1):c.2T>C (p.Met1Thr)	GJB1 (M1T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 949392	NM_000166.6(GJB1):c.2T>A (p.Met1Lys)	GJB1 (M1K)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 637588	NM_000166.6(GJB1):c.2T>G (p.Met1Arg)	GJB1 (M1R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance

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