Related gene-specific medical variations for Gene (Select 9759) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2689203	NM_001378414.1(HDAC4):c.412C>A (p.Arg138Ser)	HDAC4 (R138S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 2689202	NM_001378414.1(HDAC4):c.2836A>G (p.Thr946Ala)	HDAC4 (T941A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 2684997	GRCh37/hg19 2q37.3(chr2:239884391-240682582)x1	HDAC4	Copy number loss	not provided	GUncertain significance
Select item 2432394	NM_001378414.1(HDAC4):c.1604G>A (p.Arg535His)	HDAC4 (R530H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 2432393	NM_001378414.1(HDAC4):c.2575G>A (p.Asp859Asn)	HDAC4 (D854N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 1687676	NM_001378414.1(HDAC4):c.2751-225C>A	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1679741	NM_001378414.1(HDAC4):c.3211G>A (p.Val1071Met)	HDAC4 (V1066M +1 more)	Single nucleotide variant (missense variant)	Syndromic intellectual disability	GUncertain significance
Select item 1340523	GRCh37/hg19 2q37.3(chr2:239974722-240260850)x3	HDAC4	Copy number gain	not provided	GUncertain significance
Select item 1278328	NM_001378414.1(HDAC4):c.2751-246A>G	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1268422	NM_001378414.1(HDAC4):c.2751-289A>C	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1232800	NM_001378414.1(HDAC4):c.2751-251C>T	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1229352	NM_001378414.1(HDAC4):c.2751-259C>A	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 994228	NM_001378414.1(HDAC4):c.2821G>A (p.Val941Met)	HDAC4 (V936M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930723	NM_001378414.1(HDAC4):c.340-9C>T	HDAC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 871015	NM_001378414.1(HDAC4):c.70C>T (p.Arg24Cys)	HDAC4 (R24C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 814380	GRCh37/hg19 2q37.3(chr2:240176735-240248534)x1	HDAC4	Copy number loss	not provided	GUncertain significance
Select item 814377	GRCh37/hg19 2q37.3(chr2:239896860-240221984)x1	HDAC4	Copy number loss	not provided	GLikely pathogenic
Select item 813561	NM_001378414.1(HDAC4):c.3094T>C (p.Tyr1032His)	HDAC4 (Y1027H +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 809195	NM_001378414.1(HDAC4):c.339+7C>T	HDAC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 809194	NM_001378414.1(HDAC4):c.2750+3G>A	HDAC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 685334	GRCh37/hg19 2q37.3(chr2:239993217-240008612)x1	HDAC4	Copy number loss	not provided	GUncertain significance
Select item 445663	NM_001378414.1(HDAC4):c.2532+18G>A	HDAC4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 441739	GRCh37/hg19 2q37.3(chr2:240203374-240432589)x1	HDAC4	Copy number loss	See cases	GLikely pathogenic
Select item 374655	NM_001378414.1(HDAC4):c.1569G>A (p.Pro523=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Links from Gene

Items: 27