HDAC8[gene] - 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	VAMP7, VBP1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068116, LOC130068117 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	NAA10, NALF2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	ABCB7, ACE2 +1398 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068159, LOC130068160 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC111365170, LOC111365174 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC110120679, LOC110120680 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	ITGB1BP2, ITIH6 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	GK, GK-AS1 +1475 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	ABCB7, ACE2 +1628 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068277, LOC130068278 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	ABCB7, ACE2 +1932 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC126863344, LOC126863345 +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	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC130068156, LOC130068157 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC125467792, LOC125467793 +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	ABCB7, ABCD1 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	VCX3B, VEGFD +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	CENPVL1, CENPVL2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	CT47A6, CT47A7 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	LOC116309160, LOC116309161 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	CTPS2, CUL4B +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC130068611, LOC130068612 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	LOC130068404, LOC130068405 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	GPR101, GPR119 +2632 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	ABCB7, ACE2 +1798 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC109396974, LOC109504725 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	WDR13, WDR44 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LINC00629, LINC00630 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	MIR1321, MIR1468 +1493 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	TSR2, TXLNG +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	DMRTC1, DMRTC1B +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	DLG3, DLG3-AS1 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC116309156, LOC116309157 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130068344, LOC130068345 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC129391311, LOC129391312 +2585 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	SYTL4, SYTL5 +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	LOC130068430, LOC130068431 +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068386, LOC130068387 +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	LOC126863296, LOC126863297 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	ABCB7, ABCD1 +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	ABCB7, ABCD1 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068371, LOC130068372 +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	TEX11, TSIX +206 more	Copy number gain	See cases	GPathogenic
Select item 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	MIR421, MIR545 +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 149798	GRCh38/hg38 Xq13.1(chrX:71810439-72381499)x3	CITED1, ERCC6L +19 more	Copy number gain	See cases	GLikely benign
Select item 2142066	NM_018486.3(HDAC8):c.1126G>A (p.Val376Met)	HDAC8 (V285M +4 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5 +1 more	GUncertain significance
Select item 2814237	NM_018486.3(HDAC8):c.1117C>A (p.Leu373Met)	HDAC8 (L347M +4 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 694678	NM_018486.3(HDAC8):c.1112-4_1116del	HDAC8	Deletion (splice acceptor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 430582	NM_018486.3(HDAC8):c.1112-2A>G	HDAC8	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2915047	NM_018486.3(HDAC8):c.1112-5T>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2026394	NM_018486.3(HDAC8):c.1112-10_1112-9del	HDAC8	Deletion (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1918530	NM_018486.3(HDAC8):c.1112-11C>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1270507	NM_018486.3(HDAC8):c.1112-42A>G	HDAC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2660910	NM_018486.3(HDAC8):c.1112-599T>C	HDAC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2660911	NM_018486.3(HDAC8):c.1112-626C>T	HDAC8 (T302M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660912	NM_018486.3(HDAC8):c.1111+131C>A	HDAC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660913	NM_018486.3(HDAC8):c.1111+128C>T	HDAC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2416617	NM_018486.3(HDAC8):c.1111+17del	HDAC8	Deletion (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1633109	NM_018486.3(HDAC8):c.1111+16C>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GBenign
Select item 2982342	NM_018486.3(HDAC8):c.1111+13C>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 739739	NM_018486.3(HDAC8):c.1111+10G>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GBenign
Select item 1533263	NM_018486.3(HDAC8):c.1111+9C>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GBenign
Select item 2793496	NM_018486.3(HDAC8):c.1111G>A (p.Gly371Arg)	HDAC8 (E280K +4 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2172666	NM_018486.3(HDAC8):c.1105A>G (p.Ile369Val)	HDAC8 (I343V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1936967	NM_018486.3(HDAC8):c.1104C>T (p.Tyr368=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2840311	NM_018486.3(HDAC8):c.1085T>C (p.Ile362Thr)	HDAC8 (I271T +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 1662859	NM_018486.3(HDAC8):c.1082G>A (p.Arg361Gln)	HDAC8 (R270Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GBenign
Select item 433191	NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)	HDAC8 (R361* +1 more)	Single nucleotide variant (nonsense +1 more)	Cornelia de Lange syndrome 5	GPathogenic
Select item 2740651	NM_018486.3(HDAC8):c.1068C>A (p.Arg356=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2718191	NM_018486.3(HDAC8):c.1066C>T (p.Arg356Cys)	HDAC8 (R265C +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2021279	NM_018486.3(HDAC8):c.1058G>A (p.Arg353Gln)	HDAC8 (R262Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2864629	NM_018486.3(HDAC8):c.1053C>T (p.Ser351=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1516572	NM_018486.3(HDAC8):c.1052G>C (p.Ser351Thr)	HDAC8 (S351T +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1641369	NM_018486.3(HDAC8):c.1047G>A (p.Thr349=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2546773	NM_018486.3(HDAC8):c.1046C>T (p.Thr349Met)	HDAC8 (T258M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 149282	GRCh38/hg38 Xq13.1(chrX:72351800-72942215)x3	DMRTC1, DMRTC1B +11 more	Copy number gain	See cases	GUncertain significance
Select item 392167	NM_018486.3(HDAC8):c.1037T>C (p.Leu346Pro)	HDAC8 (L346P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 804028	NM_018486.3(HDAC8):c.1019A>G (p.Tyr340Cys)	HDAC8 (Y340C +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5 +1 more	GUncertain significance
Select item 473110	NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser)	HDAC8 (Y340S +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 2500939	NM_018486.3(HDAC8):c.1011dup (p.Thr338fs)	HDAC8 (T247fs +2 more)	Duplication (frameshift variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 2691318	NM_018486.3(HDAC8):c.1010dup (p.Thr338fs)	HDAC8 (T247fs +2 more)	Duplication (frameshift variant +1 more)	Cornelia de Lange syndrome 5	GPathogenic
Select item 216939	NM_018486.3(HDAC8):c.1006-2A>G	HDAC8	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 2722099	NM_018486.3(HDAC8):c.1006-4A>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GBenign
Select item 1214601	NM_018486.3(HDAC8):c.1006-70T>C	HDAC8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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