"GeneDx"[submitter] AND "HDAC8"[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 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 1270507	NM_018486.3(HDAC8):c.1112-42A>G	HDAC8	Single nucleotide variant (intron variant)	not provided	GBenign
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 1214601	NM_018486.3(HDAC8):c.1006-70T>C	HDAC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662335	NM_018486.3(HDAC8):c.961G>C (p.Val321Leu)	HDAC8 (V230L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 39713	NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)	HDAC8 (G320R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 523882	NM_018486.3(HDAC8):c.951C>A (p.Tyr317Ter)	HDAC8 (Y317* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 39712	NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)	HDAC8 (T311M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 265658	NM_018486.3(HDAC8):c.907G>T (p.Gly303Ter)	HDAC8 (G303* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3378000	NM_018486.3(HDAC8):c.839C>T (p.Thr280Ile)	HDAC8 (T189I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1313854	NM_018486.3(HDAC8):c.835A>G (p.Met279Val)	HDAC8 (M188V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1313253	NM_018486.3(HDAC8):c.830T>G (p.Phe277Cys)	HDAC8 (F186C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370625	NM_018486.3(HDAC8):c.815A>G (p.Asp272Gly)	HDAC8 (D181G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 280671	NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter)	HDAC8 (Q263* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 451066	NM_018486.3(HDAC8):c.738-1del	HDAC8	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 623138	NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp)	HDAC8 (R223W +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 429764	NM_018486.3(HDAC8):c.635G>T (p.Gly212Val)	HDAC8 (G212V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2136296	NM_018486.3(HDAC8):c.601C>T (p.His201Tyr)	HDAC8 (H201Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 372994	NM_018486.3(HDAC8):c.595T>A (p.Ser199Thr)	HDAC8 (S199T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1313522	NM_018486.3(HDAC8):c.554T>C (p.Val185Ala)	HDAC8 (V185A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1204300	NM_018486.3(HDAC8):c.551-169C>T	HDAC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308382	NM_018486.3(HDAC8):c.500G>C (p.Arg167Pro)	HDAC8 (R167P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 280793	NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)	HDAC8 (R166* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +8 more	GPathogenic
Select item 39710	NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter)	HDAC8 (R164* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1722808	NM_018486.3(HDAC8):c.473C>T (p.Ala158Val)	HDAC8 (A158V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1326495	NM_018486.3(HDAC8):c.440A>G (p.Asp147Gly)	HDAC8 (D147G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 158662	NM_018486.3(HDAC8):c.438-15C>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5 +2 more	GBenign
Select item 1233019	NM_018486.3(HDAC8):c.438-329C>A	HDAC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372884	NM_018486.3(HDAC8):c.419G>T (p.Gly140Val)	HDAC8 (G140V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2579771	NM_018486.3(HDAC8):c.283G>C (p.Glu95Gln)	HDAC8 (E95Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1306097	NM_018486.3(HDAC8):c.262G>A (p.Asp88Asn)	HDAC8 (D88N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2500631	NM_018486.3(HDAC8):c.211C>T (p.His71Tyr)	HDAC8 (H71Y)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 419411	NM_018486.3(HDAC8):c.165-2A>G	HDAC8	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 681696	NM_018486.3(HDAC8):c.165-136A>G	HDAC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175401	NM_018486.3(HDAC8):c.165-151G>A	HDAC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205704	NM_018486.3(HDAC8):c.165-305A>C	HDAC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220241	NM_018486.3(HDAC8):c.164+186G>C	HDAC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423598	NM_018486.3(HDAC8):c.164_164+1delinsCT	HDAC8	Indel (splice donor variant)	not provided	GLikely pathogenic
Select item 158659	NM_018486.3(HDAC8):c.159G>A (p.Gln53=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 1723478	NM_018486.3(HDAC8):c.121G>A (p.Val41Met)	HDAC8 (V41M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1182702	NM_018486.3(HDAC8):c.112-29dup	HDAC8	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1261332	NM_018486.3(HDAC8):c.112-17del	HDAC8	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1196492	NM_018486.3(HDAC8):c.112-18_112-17del	HDAC8	Deletion (intron variant)	not provided	GLikely benign
Select item 1271705	NM_018486.3(HDAC8):c.111+46T>G	HDAC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675128	NM_018486.3(HDAC8):c.111+40T>G	HDAC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200179	NM_018486.3(HDAC8):c.111+34T>G	HDAC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676874	NM_018486.3(HDAC8):c.110G>A (p.Arg37Gln)	HDAC8 (R37Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1301021	NM_018486.3(HDAC8):c.57C>T (p.Ile19=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5 +2 more	GBenign/Likely benign
Select item 2772575	NM_018486.3(HDAC8):c.43G>A (p.Val15Ile)	HDAC8 (V15I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2049280	NM_018486.3(HDAC8):c.9_17dup (p.Pro7_Ala8insGluGluPro)	HDAC8	Duplication (inframe_insertion +3 more)	Cornelia de Lange syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1194710	NM_018486.3(HDAC8):c.8A>C (p.Glu3Ala)	HDAC8 (E3A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1225627	NC_000023.11:g.72573244dup	HDAC8	Duplication	not provided	GBenign
Select item 1246836	NC_000023.11:g.72573405_72573406dup	HDAC8	Duplication	not provided	GBenign
Select item 1233013	NC_000023.11:g.72573404_72573406dup	HDAC8	Duplication	not provided	GBenign
Select item 1225710	NC_000023.11:g.72573406dup	HDAC8	Duplication	not provided	GBenign
Select item 1209277	NC_000023.11:g.72573403_72573406dup	HDAC8	Duplication	not provided	GLikely benign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3362058	NM_018486.3(HDAC8):c.574A>G (p.Thr192Ala)	HDAC8 (T101A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3361794	NM_018486.3(HDAC8):c.625C>G (p.Pro209Ala)	HDAC8 (P118A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360911	NM_018486.3(HDAC8):c.1114A>G (p.Asn372Asp)	HDAC8 (N281D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360857	NM_018486.3(HDAC8):c.1063G>T (p.Asp355Tyr)	HDAC8 (D264Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360264	NM_018486.3(HDAC8):c.983C>T (p.Ser328Phe)	HDAC8 (S237F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1676374	NM_018486.3(HDAC8):c.502A>G (p.Lys168Glu)	HDAC8 (K168E +1 more)	Single nucleotide variant	Cornelia de Lange syndrome 5 +1 more	GUncertain significance

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Items: 81