ClinVar for MedGen (Select 1807420) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2580948	NM_001378414.1(HDAC4):c.386A>C (p.Glu129Ala)	HDAC4 (E129A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	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 2431880	NM_001378414.1(HDAC4):c.354G>C (p.Met118Ile)	HDAC4 (M118I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 2431727	NM_001378414.1(HDAC4):c.2783C>T (p.Ala928Val)	HDAC4 (A923V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 1699421	NM_001378414.1(HDAC4):c.145A>G (p.Met49Val)	HDAC4 (M49V)	Single nucleotide variant (missense variant)	HDAC4-related condition +1 more	GUncertain significance
Select item 1424429	NM_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu)	HDAC4 (P583L +1 more)	Single nucleotide variant (missense variant)	Chromosome 2q37 deletion syndrome +2 more	GUncertain significance
Select item 1344564	NM_001378414.1(HDAC4):c.740A>G (p.Glu247Gly)	HDAC4	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GPathogenic
Select item 1344563	NM_001378414.1(HDAC4):c.742C>G (p.Pro248Ala)	HDAC4 (P248A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GPathogenic
Select item 983139	NM_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter)	HDAC4 (Q458* +1 more)	Single nucleotide variant (nonsense)	Chromosome 2q37 deletion syndrome +1 more	GUncertain significance
Select item 977487	NM_001378414.1(HDAC4):c.731C>A (p.Thr244Lys)	HDAC4 (T244K)	Single nucleotide variant (missense variant)	Intellectual disability, severe +1 more	GPathogenic/Likely pathogenic
Select item 774111	NM_001378414.1(HDAC4):c.111G>A (p.Ala37=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 719998	NM_001378414.1(HDAC4):c.1534-9G>A	HDAC4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 594038	NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu)	HDAC4 (P545L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies +2 more	GUncertain significance
Select item 518341	NM_001378414.1(HDAC4):c.155G>A (p.Arg52His)	HDAC4 (R52H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 445663	NM_001378414.1(HDAC4):c.2532+18G>A	HDAC4	Single nucleotide variant (intron variant)	Chromosome 2q37 deletion syndrome +2 more	GLikely benign
Select item 424498	NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu)	HDAC4 (P248L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity

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Items: 22