Related gene-specific medical variations for Gene (Select 55869) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237489	NM_018486.3(HDAC8):c.550+1G>T	HDAC8	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 5	GPathogenic
Select item 3068069	NM_018486.3(HDAC8):c.331T>C (p.Tyr111His)	HDAC8 (Y111H)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 3062087	NM_018486.3(HDAC8):c.943T>A (p.Trp315Arg)	HDAC8 (W224R +2 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 2637949	NM_018486.3(HDAC8):c.296-13T>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2574139	NC_000023.11:g.72456277_72483823del	HDAC8	Deletion	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 2441813	NM_018486.3(HDAC8):c.602A>T (p.His201Leu)	HDAC8 (H110L +1 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2432395	NM_018486.3(HDAC8):c.938G>A (p.Arg313Gln)	HDAC8 (R222Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 1679567	NM_018486.3(HDAC8):c.738-1619G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 1676374	NM_018486.3(HDAC8):c.502A>G (p.Lys168Glu)	HDAC8 (K168E +1 more)	Single nucleotide variant	Cornelia de Lange syndrome 5 +1 more	GUncertain significance
Select item 1335805	GRCh37/hg19 Xq13.1(chrX:71788603-71792725)x4	HDAC8	Copy number gain	not provided	GUncertain significance
Select item 1323053	NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer)	HDAC8	Deletion (frameshift variant +1 more)	Cornelia de Lange syndrome 5	GPathogenic
Select item 1224356	NM_018486.3(HDAC8):c.238C>T (p.Gln80Ter)	HDAC8 (Q80*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 975708	NM_018486.3(HDAC8):c.302A>G (p.Asp101Gly)	HDAC8 (D101G)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 932082	NM_018486.3(HDAC8):c.182T>G (p.Val61Gly)	HDAC8 (V61G)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 872030	GRCh37/hg19 Xq13.1(chrX:71788603-71792725)x4	HDAC8	Copy number gain	not provided	GUncertain significance
Select item 872029	GRCh37/hg19 Xq13.1(chrX:71788603-71792725)x4	HDAC8	Copy number gain	not provided	GUncertain significance
Select item 869426	NM_018486.3(HDAC8):c.799G>A (p.Asp267Asn)	HDAC8 (D176N +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 591598	NM_018486.3(HDAC8):c.738-9981del	HDAC8 (P135fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 560685	NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro)	HDAC8 (A266P +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 442981	GRCh37/hg19 Xq13.1(chrX:71568282-71769394)x3	HDAC8	Copy number gain	See cases	GLikely pathogenic
Select item 441951	GRCh37/hg19 Xq13.1(chrX:71529319-71659088)x2	HDAC8	Copy number gain	See cases	GUncertain significance
Select item 226203	GRCh37/hg19 Xq13.1(chrX:71537559-71609005)	HDAC8	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Links from Gene

Items: 22