ClinVar for Gene (Select 9759) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369374	NM_001378414.1(HDAC4):c.2946C>A (p.Asp982Glu)	HDAC4 (D977E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368734	NM_001378414.1(HDAC4):c.1193G>A (p.Ser398Asn)	HDAC4 (S398N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366833	NM_001378414.1(HDAC4):c.73G>A (p.Val25Met)	HDAC4 (V25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365482	NM_001378414.1(HDAC4):c.1973C>T (p.Thr658Met)	HDAC4 (T653M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364796	NM_001378414.1(HDAC4):c.2810G>T (p.Gly937Val)	HDAC4 (G932V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364686	NM_001378414.1(HDAC4):c.3248_3249delinsA (p.Met1083fs)	HDAC4 (M1078fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3364150	NM_001378414.1(HDAC4):c.2453G>A (p.Cys818Tyr)	HDAC4 (C813Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364022	NM_001378414.1(HDAC4):c.1956dup (p.Thr653fs)	HDAC4 (T648fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3363882	NM_001378414.1(HDAC4):c.1886A>G (p.His629Arg)	HDAC4 (H624R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362364	NM_001378414.1(HDAC4):c.1394G>A (p.Arg465His)	HDAC4 (R460H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GPathogenic
Select item 3358120	NM_001378414.1(HDAC4):c.1773G>C (p.Gln591His)	HDAC4 (Q586H +1 more)	Single nucleotide variant (missense variant)	HDAC4-related disorder	GUncertain significance
Select item 3353017	NM_001378414.1(HDAC4):c.3261G>A (p.Pro1087=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 3350408	NM_001378414.1(HDAC4):c.2874C>T (p.Phe958=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 3350177	NM_001378414.1(HDAC4):c.865+4T>C	HDAC4	Single nucleotide variant (intron variant)	HDAC4-related disorder	GLikely benign
Select item 3350154	NM_001378414.1(HDAC4):c.2378G>A (p.Gly793Glu)	HDAC4 (G788E +1 more)	Single nucleotide variant (missense variant)	HDAC4-related disorder	GUncertain significance
Select item 3347597	NM_001378414.1(HDAC4):c.2175C>T (p.Thr725=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 3345539	NM_001378414.1(HDAC4):c.882C>A (p.Ser294Arg)	HDAC4 (S294R)	Single nucleotide variant (missense variant)	HDAC4-related disorder	GUncertain significance
Select item 3343939	NM_001378414.1(HDAC4):c.2606G>A (p.Arg869His)	HDAC4 (R864H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343609	NM_001378414.1(HDAC4):c.3008A>G (p.Asp1003Gly)	HDAC4 (D1003G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341484	NM_001378414.1(HDAC4):c.2574C>G (p.Ser858Arg)	HDAC4 (S853R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 3340826	NM_001378414.1(HDAC4):c.339+1G>A	HDAC4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3337160	NM_001378414.1(HDAC4):c.2258G>A (p.Arg753Gln)	HDAC4 (R748Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3283691	NM_001378414.1(HDAC4):c.928G>C (p.Val310Leu)	HDAC4 (V310L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283690	NM_001378414.1(HDAC4):c.3192G>A (p.Met1064Ile)	HDAC4 (M1064I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283689	NM_001378414.1(HDAC4):c.551del (p.Lys184fs)	HDAC4 (K184fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3283688	NM_001378414.1(HDAC4):c.2172C>A (p.His724Gln)	HDAC4 (H719Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283687	NM_001378414.1(HDAC4):c.598C>T (p.Arg200Cys)	HDAC4 (R200C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283686	NM_001378414.1(HDAC4):c.1088C>G (p.Pro363Arg)	HDAC4 (P363R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3283685	NM_001378414.1(HDAC4):c.1870G>A (p.Val624Met)	HDAC4 (V619M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283684	NM_001378414.1(HDAC4):c.1736G>A (p.Arg579Gln)	HDAC4 (R579Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252713	NM_001378414.1(HDAC4):c.2681A>G (p.Asn894Ser)	HDAC4 (N889S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252378	NM_001378414.1(HDAC4):c.1697A>G (p.Glu566Gly)	HDAC4 (E561G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251029	NM_001378414.1(HDAC4):c.2911G>T (p.Gly971Cys)	HDAC4 (G966C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3242173	NM_001378414.1(HDAC4):c.3107T>A (p.Leu1036Gln)	HDAC4 (L1031Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 3236092	NM_001378414.1(HDAC4):c.521del (p.Lys174fs)	HDAC4 (K174fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3104590	NM_001378414.1(HDAC4):c.555G>A (p.Ala185=)	HDAC4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3104589	NM_001378414.1(HDAC4):c.37C>G (p.Arg13Gly)	HDAC4 (R13G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104588	NM_001378414.1(HDAC4):c.362T>C (p.Met121Thr)	HDAC4 (M121T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3104586	NM_001378414.1(HDAC4):c.3145G>A (p.Glu1049Lys)	HDAC4 (E1049K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104585	NM_001378414.1(HDAC4):c.3025G>A (p.Val1009Ile)	HDAC4 (V1004I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3104584	NM_001378414.1(HDAC4):c.2572A>C (p.Ser858Arg)	HDAC4 (S853R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104583	NM_001378414.1(HDAC4):c.1859C>T (p.Ala620Val)	HDAC4 (A620V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104582	NM_001378414.1(HDAC4):c.1757G>A (p.Arg586His)	HDAC4 (R581H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3104581	NM_001378414.1(HDAC4):c.1678G>A (p.Gly560Ser)	HDAC4 (G560S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3104580	NM_001378414.1(HDAC4):c.1360G>A (p.Val454Met)	HDAC4 (V454M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068265	NM_001378414.1(HDAC4):c.577C>G (p.His193Asp)	HDAC4 (H193D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 3066196	NM_001378414.1(HDAC4):c.2189C>T (p.Thr730Met)	HDAC4 (T725M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 3065957	NM_001378414.1(HDAC4):c.2131G>A (p.Ala711Thr)	HDAC4 (A706T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3060547	NM_001378414.1(HDAC4):c.1792-4G>T	HDAC4	Single nucleotide variant (intron variant)	HDAC4-related disorder	GLikely benign
Select item 3057585	NM_001378414.1(HDAC4):c.22+9G>A	HDAC4	Single nucleotide variant (intron variant)	HDAC4-related disorder	GLikely benign
Select item 3054909	NM_001378414.1(HDAC4):c.886C>T (p.Pro296Ser)	HDAC4 (P296S)	Single nucleotide variant (missense variant)	HDAC4-related disorder	GUncertain significance
Select item 3054244	NM_001378414.1(HDAC4):c.2304C>T (p.Asn768=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 3052856	NM_001378414.1(HDAC4):c.1282C>A (p.Pro428Thr)	HDAC4 (P428T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052774	NM_001378414.1(HDAC4):c.866-4G>A	HDAC4	Single nucleotide variant (intron variant)	HDAC4-related disorder	GLikely benign
Select item 3051903	NM_001378414.1(HDAC4):c.317C>T (p.Ala106Val)	HDAC4 (A106V)	Single nucleotide variant (missense variant)	HDAC4-related disorder	GLikely benign
Select item 3049493	NM_001378414.1(HDAC4):c.2181G>T (p.Leu727=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 3048684	NM_001378414.1(HDAC4):c.2444+10C>T	HDAC4	Single nucleotide variant (intron variant)	HDAC4-related disorder	GLikely benign
Select item 3043297	NM_001378414.1(HDAC4):c.490+92_490+126del	HDAC4	Deletion (intron variant)	HDAC4-related disorder	GLikely benign
Select item 3041141	NM_001378414.1(HDAC4):c.2931C>T (p.Leu977=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 3040945	NM_001378414.1(HDAC4):c.2091G>C (p.Thr697=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 3040320	NM_001378414.1(HDAC4):c.921C>T (p.Ser307=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 3039731	NM_001378414.1(HDAC4):c.411C>T (p.His137=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 3033328	NM_001378414.1(HDAC4):c.2132C>T (p.Ala711Val)	HDAC4 (A706V +1 more)	Single nucleotide variant (missense variant)	HDAC4-related disorder	GUncertain significance
Select item 3031926	NM_001378414.1(HDAC4):c.2900G>C (p.Gly967Ala)	HDAC4 (G962A +1 more)	Single nucleotide variant (missense variant)	HDAC4-related disorder	GUncertain significance
Select item 3026227	NM_001378414.1(HDAC4):c.974C>T (p.Ala325Val)	HDAC4 (A325V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026182	NM_001378414.1(HDAC4):c.2952C>T (p.Thr984=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015287	NM_001378414.1(HDAC4):c.143C>G (p.Pro48Arg)	HDAC4 (P48R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015044	NM_001378414.1(HDAC4):c.331C>A (p.His111Asn)	HDAC4 (H111N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014138	NM_001378414.1(HDAC4):c.1858G>A (p.Ala620Thr)	HDAC4 (A620T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915990	NM_001378414.1(HDAC4):c.1978+10G>C	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910652	NM_001378414.1(HDAC4):c.2283G>A (p.Val761=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905861	NM_001378414.1(HDAC4):c.1461C>T (p.Ile487=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904356	NM_001378414.1(HDAC4):c.1252G>C (p.Val418Leu)	HDAC4 (V418L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902303	NM_001378414.1(HDAC4):c.980C>T (p.Thr327Met)	HDAC4 (T327M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896146	NM_001378414.1(HDAC4):c.1965G>A (p.Pro655=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893316	NM_001378414.1(HDAC4):c.2653-14C>T	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2887533	NM_001378414.1(HDAC4):c.3230+18C>T	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2885007	NM_001378414.1(HDAC4):c.2751-14_2751-12del	HDAC4	Deletion (intron variant)	not provided	GLikely benign
Select item 2883179	NM_001378414.1(HDAC4):c.2829C>T (p.Gly943=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882881	NM_001378414.1(HDAC4):c.3004-8T>C	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880330	NM_001378414.1(HDAC4):c.678C>G (p.Asn226Lys)	HDAC4 (N226K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877674	NM_001378414.1(HDAC4):c.2750+12G>A	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867444	NM_001378414.1(HDAC4):c.1230C>T (p.His410=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865991	NM_001378414.1(HDAC4):c.2234-11C>A	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854581	NM_001378414.1(HDAC4):c.94+8C>T	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851043	NM_001378414.1(HDAC4):c.2427G>T (p.Ala809=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851002	NM_001378414.1(HDAC4):c.2280+19T>C	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2848472	NM_001378414.1(HDAC4):c.949G>A (p.Ala317Thr)	HDAC4 (A317T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847799	NM_001378414.1(HDAC4):c.788G>T (p.Arg263Ile)	HDAC4 (R263I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829628	NM_001378414.1(HDAC4):c.2580del (p.Ser861fs)	HDAC4 (S861fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2807704	NM_001378414.1(HDAC4):c.2242G>A (p.Ala748Thr)	HDAC4 (A748T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2797531	NM_001378414.1(HDAC4):c.3004-17T>C	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2764304	NM_001378414.1(HDAC4):c.1138G>A (p.Ala380Thr)	HDAC4 (A380T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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