ClinVar for MedGen (Select 763817) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 229

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366976	NM_018486.3(HDAC8):c.512G>A (p.Arg171His)	HDAC8 (R171H +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 3245537	NC_000023.10:g.(?_71549904)_(71571708_?)dup	HDAC8	Duplication	Cornelia de Lange syndrome 5	GUncertain significance
Select item 3245526	NC_000023.10:g.(?_71710759)_(71715138_?)del	HDAC8	Deletion	Cornelia de Lange syndrome 5	GPathogenic
Select item 3245515	NC_000023.10:g.(?_71571563)_(71571708_?)del	HDAC8	Deletion	Cornelia de Lange syndrome 5	GPathogenic
Select item 3237489	NM_018486.3(HDAC8):c.550+1G>T	HDAC8	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 5	GPathogenic
Select item 3068069	NM_018486.3(HDAC8):c.331T>C (p.Tyr111His)	HDAC8 (Y111H)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 3067177	NM_018486.3(HDAC8):c.111+1G>C	HDAC8	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 3066329	NM_018486.3(HDAC8):c.854G>T (p.Gly285Val)	HDAC8 (G194V +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 3062087	NM_018486.3(HDAC8):c.943T>A (p.Trp315Arg)	HDAC8 (W224R +2 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 3024300	NM_018486.3(HDAC8):c.164G>T (p.Arg55Met)	HDAC8 (R55I +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 3024048	NM_018486.3(HDAC8):c.112-18_112-17dup	HDAC8	Duplication (intron variant)	Cornelia de Lange syndrome 5	GBenign
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 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 2999428	NM_018486.3(HDAC8):c.141A>T (p.Ala47=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
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 2966887	NM_018486.3(HDAC8):c.31G>C (p.Gly11Arg)	HDAC8 (G11R)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2918143	NM_018486.3(HDAC8):c.66C>T (p.Pro22=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
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 2903408	NM_018486.3(HDAC8):c.20C>A (p.Pro7Gln)	HDAC8 (P7Q)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GBenign
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 2896875	NM_018486.3(HDAC8):c.628+7G>A	HDAC8	Single nucleotide variant (intron variant)	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 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 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 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 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 2853907	NM_018486.3(HDAC8):c.111G>C (p.Arg37=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
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 2844198	NM_018486.3(HDAC8):c.306C>T (p.Cys102=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2841841	NM_018486.3(HDAC8):c.164+9T>C	HDAC8	Single nucleotide variant (intron variant)	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 2840246	NM_018486.3(HDAC8):c.12G>A (p.Pro4=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GBenign
Select item 2835739	NM_018486.3(HDAC8):c.111+10G>A	HDAC8	Single nucleotide variant (intron variant)	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 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 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 2821068	NM_018486.3(HDAC8):c.349G>A (p.Gly117Arg)	HDAC8 (G117R)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2819953	NM_018486.3(HDAC8):c.738-2A>G	HDAC8	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 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 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 2783428	NM_018486.3(HDAC8):c.111+6G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GConflicting classifications of pathogenicity
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 2772575	NM_018486.3(HDAC8):c.43G>A (p.Val15Ile)	HDAC8 (V15I)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
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 2764921	NM_018486.3(HDAC8):c.111+20A>G	HDAC8	Single nucleotide variant (intron variant)	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 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 2741407	NM_018486.3(HDAC8):c.738-17del	HDAC8	Deletion (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
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 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 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 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 2723003	NM_018486.3(HDAC8):c.296-13T>C	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
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 2718855	NM_018486.3(HDAC8):c.291G>A (p.Gly97=)	HDAC8	Single nucleotide variant (synonymous variant +2 more)	Cornelia de Lange syndrome 5	GUncertain significance
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 2717592	NM_018486.3(HDAC8):c.551-17G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
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 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 2700230	NM_018486.3(HDAC8):c.23C>A (p.Ala8Glu)	HDAC8 (A8E)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
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 2637949	NM_018486.3(HDAC8):c.296-13T>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2574139	NC_000023.11:g.72456277_72483823del	HDAC8	Deletion	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 2445981	NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs)	HDAC8 (C28fs)	Duplication (frameshift variant +1 more)	Cornelia de Lange syndrome 5	GPathogenic
Select item 2441813	NM_018486.3(HDAC8):c.602A>T (p.His201Leu)	HDAC8 (H110L +1 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2432395	NM_018486.3(HDAC8):c.938G>A (p.Arg313Gln)	HDAC8 (R222Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2426477	NC_000023.10:g.(?_71681834)_(71681968_?)del	HDAC8	Deletion	Cornelia de Lange syndrome 5	GPathogenic
Select item 2416617	NM_018486.3(HDAC8):c.1111+17del	HDAC8	Deletion (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2415664	NM_018486.3(HDAC8):c.165-11G>A	HDAC8	Single nucleotide variant (intron variant)	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)	Cornelia de Lange syndrome 5 +1 more	GLikely benign
Select item 2197164	NM_018486.3(HDAC8):c.112-14G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
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 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 2165964	NM_018486.3(HDAC8):c.629-11C>G	HDAC8	Single nucleotide variant (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 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 2140697	NM_018486.3(HDAC8):c.383A>T (p.Asp128Val)	HDAC8 (D128V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2125731	NM_018486.3(HDAC8):c.112-11G>T	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GLikely 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 2101563	NM_018486.3(HDAC8):c.381T>A (p.Ile127=)	HDAC8	Single nucleotide variant (synonymous variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
Select item 2088828	NM_018486.3(HDAC8):c.310G>A (p.Ala104Thr)	HDAC8 (A104T)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2086369	NM_018486.3(HDAC8):c.225T>C (p.Tyr75=)	HDAC8	Single nucleotide variant (synonymous variant +2 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 2079734	NM_018486.3(HDAC8):c.437+16_437+19del	HDAC8	Deletion (3 prime UTR variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
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 2040492	NM_018486.3(HDAC8):c.166A>G (p.Ile56Val)	HDAC8 (I56V)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GBenign
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 2031136	NM_018486.3(HDAC8):c.437+13C>G	HDAC8	Single nucleotide variant (3 prime UTR variant +1 more)	Cornelia de Lange syndrome 5	GLikely benign
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 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 2026394	NM_018486.3(HDAC8):c.1112-10_1112-9del	HDAC8	Deletion (intron variant)	Cornelia de Lange syndrome 5	GLikely benign
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 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 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 2013357	NM_018486.3(HDAC8):c.550+7C>T	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

<< First< Prev

Page of 3