"Invitae"[submitter] AND "HDAC8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2142066	NM_018486.3(HDAC8):c.1126G>A (p.Val376Met)	HDAC8 (V285M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 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 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)	Cornelia de Lange syndrome 5 +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 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 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 2722099	NM_018486.3(HDAC8):c.1006-4A>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GBenign
Select item 2030787	NM_018486.3(HDAC8):c.1005+5G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 1519914	NM_018486.3(HDAC8):c.1005+2T>C	HDAC8	Single nucleotide variant (splice donor variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 1651471	NM_018486.3(HDAC8):c.984C>T (p.Ser328=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GBenign
Select item 1721887	NM_018486.3(HDAC8):c.976A>G (p.Thr326Ala)	HDAC8 (T235A +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1632710	NM_018486.3(HDAC8):c.957C>T (p.Thr319=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5 +1 more	GLikely benign
Select item 1417489	NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile)	HDAC8 (T228I +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GPathogenic
Select item 1598337	NM_018486.3(HDAC8):c.951C>T (p.Tyr317=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 779831	NM_018486.3(HDAC8):c.933G>A (p.Thr311=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	HDAC8-related condition +1 more	GBenign/Likely benign
Select item 39712	NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)	HDAC8 (T311M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2710266	NM_018486.3(HDAC8):c.930C>T (p.Asn310=)	HDAC8	Single nucleotide variant (synonymous variant +2 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2754647	NM_018486.3(HDAC8):c.927C>T (p.Ala309=)	HDAC8	Single nucleotide variant (synonymous variant +2 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2803548	NM_018486.3(HDAC8):c.925G>T (p.Ala309Ser)	HDAC8 (A218S +2 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 705398	NM_018486.3(HDAC8):c.915C>G (p.Gly305=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1369648	NM_018486.3(HDAC8):c.914G>A (p.Gly305Asp)	HDAC8 (G305D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2899674	NM_018486.3(HDAC8):c.911-5G>C	HDAC8	Single nucleotide variant (intron variant +1 more)	Cornelia de Lange syndrome 5	GBenign
Select item 2851736	NM_018486.3(HDAC8):c.911-13T>C	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1577842	NM_018486.3(HDAC8):c.910+20A>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1532121	NM_018486.3(HDAC8):c.910+17G>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GBenign
Select item 2710791	NM_018486.3(HDAC8):c.898A>C (p.Ile300Leu)	HDAC8 (I209L +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2742471	NM_018486.3(HDAC8):c.894A>G (p.Thr298=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2895517	NM_018486.3(HDAC8):c.889G>C (p.Ala297Pro)	HDAC8 (A206P +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
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 1606860	NM_018486.3(HDAC8):c.834C>T (p.Asn278=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2835493	NM_018486.3(HDAC8):c.831T>A (p.Phe277Leu)	HDAC8 (F186L +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2825487	NM_018486.3(HDAC8):c.828C>T (p.Ser276=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2080789	NM_018486.3(HDAC8):c.822G>A (p.Met274Ile)	HDAC8 (M274I +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	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 2022838	NM_018486.3(HDAC8):c.767A>T (p.Asn256Ile)	HDAC8 (N165I +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1176311	NM_018486.3(HDAC8):c.756C>T (p.Tyr252=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5 +1 more	GLikely benign
Select item 2029945	NM_018486.3(HDAC8):c.748del (p.Glu250fs)	HDAC8 (E250fs +1 more)	Deletion (frameshift variant +1 more)	Cornelia de Lange syndrome 5	GPathogenic
Select item 1926501	NM_018486.3(HDAC8):c.747G>A (p.Lys249=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2819953	NM_018486.3(HDAC8):c.738-2A>G	HDAC8	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 1664646	NM_018486.3(HDAC8):c.738-4A>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2741407	NM_018486.3(HDAC8):c.738-17del	HDAC8	Deletion (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1988301	NM_018486.3(HDAC8):c.737+16_737+28del	HDAC8	Deletion (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2152509	NM_018486.3(HDAC8):c.737+6G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 572705	NM_018486.3(HDAC8):c.737+3A>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2893501	NM_018486.3(HDAC8):c.731G>A (p.Cys244Tyr)	HDAC8 (C127Y +3 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 1721895	NM_018486.3(HDAC8):c.717A>T (p.Lys239Asn)	HDAC8 (K122N +3 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 1470584	NM_018486.3(HDAC8):c.683A>T (p.Asn228Ile)	HDAC8 (N228I +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2729166	NM_018486.3(HDAC8):c.669G>T (p.Arg223=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GBenign
Select item 623138	NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp)	HDAC8 (R223W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2733531	NM_018486.3(HDAC8):c.666A>G (p.Gly222=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2772454	NM_018486.3(HDAC8):c.657A>C (p.Leu219=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2040254	NM_018486.3(HDAC8):c.640G>A (p.Val214Met)	HDAC8 (V123M +3 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 724622	NM_018486.3(HDAC8):c.639C>T (p.Asp213=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5 +1 more	GBenign/Likely benign
Select item 2165964	NM_018486.3(HDAC8):c.629-11C>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1657278	NM_018486.3(HDAC8):c.629-14C>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 3012372	NM_018486.3(HDAC8):c.629-16C>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2775629	NM_018486.3(HDAC8):c.629-18T>C	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1657236	NM_018486.3(HDAC8):c.628+20G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2896875	NM_018486.3(HDAC8):c.628+7G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2167277	NM_018486.3(HDAC8):c.615A>G (p.Pro205=)	HDAC8	Single nucleotide variant (synonymous variant +2 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2126066	NM_018486.3(HDAC8):c.603C>T (p.His201=)	HDAC8	Single nucleotide variant (synonymous variant +2 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2866167	NM_018486.3(HDAC8):c.590C>A (p.Thr197Asn)	HDAC8 (T106N +1 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2814704	NM_018486.3(HDAC8):c.587T>C (p.Met196Thr)	HDAC8 (M105T +1 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 1154973	NM_018486.3(HDAC8):c.561C>T (p.Asp187=)	HDAC8	Single nucleotide variant (synonymous variant +2 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1585040	NM_018486.3(HDAC8):c.558A>G (p.Glu186=)	HDAC8	Single nucleotide variant (synonymous variant +2 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2717592	NM_018486.3(HDAC8):c.551-17G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2005787	NM_018486.3(HDAC8):c.550+9T>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2013357	NM_018486.3(HDAC8):c.550+7C>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2835213	NM_018486.3(HDAC8):c.525G>A (p.Val175=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1076180	NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter)	HDAC8 (Y174* +1 more)	Single nucleotide variant (nonsense +1 more)	Cornelia de Lange syndrome 5	GPathogenic
Select item 733751	NM_018486.3(HDAC8):c.522C>T (p.Tyr174=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GBenign
Select item 712765	NM_018486.3(HDAC8):c.516T>A (p.Ile172=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5 +1 more	GBenign/Likely benign
Select item 2111641	NM_018486.3(HDAC8):c.510G>A (p.Glu170=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 1952475	NM_018486.3(HDAC8):c.500G>A (p.Arg167Gln)	HDAC8 (R167Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 3004121	NM_018486.3(HDAC8):c.499C>T (p.Arg167Trp)	HDAC8 (R76W +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2341936	NM_018486.3(HDAC8):c.491G>T (p.Arg164Leu)	HDAC8 (R164L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 588294	NM_018486.3(HDAC8):c.491G>A (p.Arg164Gln)	HDAC8 (R164Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2893819	NM_018486.3(HDAC8):c.487T>C (p.Leu163=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2021052	NM_018486.3(HDAC8):c.477C>T (p.Val159=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2725546	NM_018486.3(HDAC8):c.474T>C (p.Ala158=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GBenign
Select item 1720301	NM_018486.3(HDAC8):c.440A>T (p.Asp147Val)	HDAC8 (D147V +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 158662	NM_018486.3(HDAC8):c.438-15C>T	HDAC8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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