ClinVar for Gene (Select 83933) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3524407	NM_032019.6(HDAC10):c.1178C>A (p.Ser393Tyr)	HDAC10 (S393Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524406	NM_032019.6(HDAC10):c.310C>T (p.Arg104Trp)	HDAC10 (R104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524405	NM_032019.6(HDAC10):c.1922C>T (p.Pro641Leu)	HDAC10 (P641L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524404	NM_032019.6(HDAC10):c.167C>T (p.Ser56Leu)	HDAC10 (S56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524403	NM_032019.6(HDAC10):c.1894A>G (p.Ser632Gly)	HDAC10 (S612G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524402	NM_032019.6(HDAC10):c.1561G>A (p.Ala521Thr)	HDAC10 (A521T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524401	NM_032019.6(HDAC10):c.835C>A (p.Pro279Thr)	HDAC10 (P279T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524400	NM_032019.6(HDAC10):c.520C>T (p.His174Tyr)	HDAC10 (H174Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524399	NM_032019.6(HDAC10):c.1555G>C (p.Asp519His)	HDAC10 (D499H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524398	NM_032019.6(HDAC10):c.616C>G (p.Leu206Val)	HDAC10 (L206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524395	NM_032019.6(HDAC10):c.1838C>G (p.Ser613Cys)	HDAC10 (S593C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524394	NM_032019.6(HDAC10):c.227A>G (p.Gln76Arg)	HDAC10 (Q76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524393	NM_032019.6(HDAC10):c.565G>A (p.Val189Ile)	HDAC10 (V189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524392	NM_032019.6(HDAC10):c.427G>A (p.Gly143Arg)	HDAC10 (G143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524391	NM_032019.6(HDAC10):c.875T>C (p.Leu292Pro)	HDAC10 (L292P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3524390	NM_032019.6(HDAC10):c.1043C>T (p.Ala348Val)	HDAC10 (A328V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392208	GRCh37/hg19 22q13.33(chr22:50489358-51121377)x3	ADM2, ARSA +26 more	Copy number gain	not provided	GUncertain significance
Select item 3283674	NM_032019.6(HDAC10):c.1219G>A (p.Ala407Thr)	HDAC10 (A407T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283673	NM_032019.6(HDAC10):c.1408A>G (p.Met470Val)	HDAC10 (M450V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283672	NM_032019.6(HDAC10):c.977C>T (p.Ala326Val)	HDAC10 (A306V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104566	NM_032019.6(HDAC10):c.983C>G (p.Pro328Arg)	HDAC10 (P308R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104565	NM_032019.6(HDAC10):c.946A>C (p.Met316Leu)	HDAC10 (M316L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104564	NM_032019.6(HDAC10):c.797C>T (p.Ser266Leu)	HDAC10 (S266L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104563	NM_032019.6(HDAC10):c.646C>T (p.Arg216Trp)	HDAC10 (R216W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104561	NM_032019.6(HDAC10):c.448G>A (p.Val150Met)	HDAC10 (V150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104560	NM_032019.6(HDAC10):c.1774C>T (p.Leu592Phe)	HDAC10 (L572F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104558	NM_032019.6(HDAC10):c.1541T>C (p.Leu514Pro)	HDAC10 (L494P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104557	NM_032019.6(HDAC10):c.150G>T (p.Leu50Phe)	HDAC10 (L50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104556	NM_032019.6(HDAC10):c.1466C>A (p.Ala489Asp)	HDAC10 (A489D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104554	NM_032019.6(HDAC10):c.1384A>G (p.Lys462Glu)	HDAC10 (K442E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104553	NM_032019.6(HDAC10):c.136A>T (p.Arg46Trp)	HDAC10 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104552	NM_032019.6(HDAC10):c.1289T>C (p.Ile430Thr)	HDAC10 (I430T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104551	NM_032019.6(HDAC10):c.1153G>C (p.Gly385Arg)	HDAC10 (G365R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	LOC105377205, LOC107181287 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	PIM3, PLXNB2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	PPP6R2, SELENOO +35 more	Copy number loss	not provided	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684942	GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3	ADM2, ARSA +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684940	GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3	ALG12, BRD1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2620546	NM_032019.6(HDAC10):c.1612G>C (p.Ala538Pro)	HDAC10 (A538P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620545	NM_032019.6(HDAC10):c.1265C>A (p.Thr422Lys)	HDAC10 (T402K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620019	NM_032019.6(HDAC10):c.614T>C (p.Phe205Ser)	HDAC10 (F205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611435	NM_032019.6(HDAC10):c.229G>A (p.Val77Ile)	HDAC10 (V77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610644	NM_032019.6(HDAC10):c.1256C>G (p.Pro419Arg)	HDAC10 (P419R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601536	NM_032019.6(HDAC10):c.1018C>G (p.Leu340Val)	HDAC10 (L320V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592507	NM_032019.6(HDAC10):c.1147C>A (p.Pro383Thr)	HDAC10 (P363T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589818	NM_032019.6(HDAC10):c.782C>T (p.Ser261Leu)	HDAC10 (S261L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	LOC130067791, LOC130067792 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2561889	NM_032019.6(HDAC10):c.35C>T (p.Thr12Met)	HDAC10, LOC130067828 (T12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557253	NM_032019.6(HDAC10):c.1597G>A (p.Gly533Ser)	HDAC10 (G533S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538249	NM_032019.6(HDAC10):c.1639C>G (p.Pro547Ala)	HDAC10 (P527A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535466	NM_032019.6(HDAC10):c.1963G>C (p.Glu655Gln)	HDAC10 (E635Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526117	NM_032019.6(HDAC10):c.287A>G (p.His96Arg)	HDAC10 (H96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512844	NM_032019.6(HDAC10):c.1576A>C (p.Ser526Arg)	HDAC10 (S506R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512843	NM_032019.6(HDAC10):c.1575G>T (p.Arg525Ser)	HDAC10 (R505S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508272	NM_032019.6(HDAC10):c.730C>T (p.His244Tyr)	HDAC10 (H244Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476144	NM_032019.6(HDAC10):c.469G>A (p.Ala157Thr)	HDAC10 (A157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472736	NM_032019.6(HDAC10):c.1792C>T (p.Arg598Trp)	HDAC10 (R598W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465841	NM_032019.6(HDAC10):c.289C>T (p.Pro97Ser)	HDAC10 (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456183	NM_032019.6(HDAC10):c.1055C>T (p.Pro352Leu)	HDAC10 (P332L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454432	NM_032019.6(HDAC10):c.1546C>T (p.Arg516Trp)	HDAC10 (R496W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426562	NC_000022.10:g.(?_50659287)_(50697352_?)del	HDAC10, MAPK12 +1 more	Deletion	not provided	GPathogenic
Select item 2425301	NC_000022.10:g.(?_50297486)_(51066207_?)del	ADM2, ALG12 +29 more	Deletion	not provided	GPathogenic
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	CHKB, ARSA +31 more	Deletion	not provided	GPathogenic
Select item 2370688	NM_032019.6(HDAC10):c.397G>A (p.Gly133Arg)	HDAC10 (G133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369999	NM_032019.6(HDAC10):c.1232G>T (p.Arg411Leu)	HDAC10 (R411L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361731	NM_032019.6(HDAC10):c.899T>C (p.Val300Ala)	HDAC10 (V300A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358485	NM_032019.6(HDAC10):c.308C>T (p.Ala103Val)	HDAC10 (A103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355124	NM_032019.6(HDAC10):c.685A>C (p.Asn229His)	HDAC10 (N229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347011	NM_032019.6(HDAC10):c.238A>G (p.Lys80Glu)	HDAC10 (K80E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347010	NM_032019.6(HDAC10):c.1462G>A (p.Ala488Thr)	HDAC10 (A488T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334812	NM_032019.6(HDAC10):c.1748A>G (p.His583Arg)	HDAC10 (H563R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334524	NM_032019.6(HDAC10):c.1726C>G (p.Leu576Val)	HDAC10 (L556V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333511	NM_032019.6(HDAC10):c.241G>A (p.Glu81Lys)	HDAC10 (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329471	NM_032019.6(HDAC10):c.1987T>C (p.Cys663Arg)	HDAC10 (C663R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326645	NM_032019.6(HDAC10):c.610C>A (p.Pro204Thr)	HDAC10 (P204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315106	NM_032019.6(HDAC10):c.1072C>G (p.Gln358Glu)	HDAC10 (Q358E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271691	NM_032019.6(HDAC10):c.116G>A (p.Arg39Gln)	HDAC10 (R39Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265258	NM_032019.6(HDAC10):c.908G>A (p.Gly303Asp)	HDAC10 (G283D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253016	NM_032019.6(HDAC10):c.854T>C (p.Leu285Pro)	HDAC10 (L285P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240317	NM_032019.6(HDAC10):c.158G>A (p.Arg53His)	HDAC10 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238699	NM_032019.6(HDAC10):c.82C>A (p.Pro28Thr)	HDAC10 (P28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220277	NM_032019.6(HDAC10):c.1016C>T (p.Ala339Val)	HDAC10 (A339V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206024	NM_032019.6(HDAC10):c.1605G>C (p.Glu535Asp)	HDAC10 (E535D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1808203	GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	CDPF1, CELSR1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807848	GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807836	GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1807632	GRCh37/hg19 22q13.33(chr22:50636593-50736663)x1	HDAC10, MAPK11 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1703551	GRCh37/hg19 22q13.33(chr22:49602454-51183869)	PPP6R2, SBF1 +33 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic

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