ClinVar for MedGen (Select 419169) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2581141	NM_001378414.1(HDAC4):c.602A>G (p.Tyr201Cys)	HDAC4 (Y201C)	Single nucleotide variant (missense variant)	Chromosome 2q37 deletion syndrome	Gnot provided
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1690379	NC_000002.12:g.(211789273_236710421)dup		Duplication	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
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 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 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	DTYMK, DUSP28 +96 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 801915	NM_001378414.1(HDAC4):c.95-98del	HDAC4	Deletion (intron variant)	Chromosome 2q37 deletion syndrome +1 more	GBenign
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 625781	GRCh37/hg19 2q37.3(chr2:239071623-243048760)	TWIST2, ANKMY1 +43 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 625780	GRCh37/hg19 2q37.3(chr2:238795602-242918203)	SCLY, SEPTIN2 +48 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	OR6B2, PASK +56 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 594038	NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu)	HDAC4 (P545L +1 more)	Single nucleotide variant (missense variant)	Chromosome 2q37 deletion syndrome +2 more	GUncertain significance
Select item 518341	NM_001378414.1(HDAC4):c.155G>A (p.Arg52His)	HDAC4 (R52H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 424498	NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu)	HDAC4 (P248L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies +4 more	GPathogenic
Select item 284218	NM_001378414.1(HDAC4):c.684G>A (p.Pro228=)	HDAC4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 283520	NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr)	HDAC4 (A786T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 281400	NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=)	HDAC4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 5070	NM_001378414.1(HDAC4):c.490+56_490+120del	HDAC4	Deletion (intron variant)	Chromosome 2q37 deletion syndrome	GUncertain significance
Select item 5069	NM_001378414.1(HDAC4):c.2414dup (p.Gly806fs)	HDAC4 (G801fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic

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Items: 23