ClinVar for MedGen (Select 477107) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573116	NM_006044.4(HDAC6):c.1894C>T (p.His632Tyr)	HDAC6 (H632Y +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	GLikely pathogenic
Select item 1249162	NM_006044.4(HDAC6):c.2187+20G>A	HDAC6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1032399	NM_006044.4(HDAC6):c.3190G>A (p.Gly1064Arg)	HDAC6 (G1078R +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	GUncertain significance
Select item 931626	NM_006044.4(HDAC6):c.2090C>T (p.Thr697Ile)	HDAC6 (T697I +1 more)	Single nucleotide variant (missense variant)	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	GUncertain significance
Select item 771225	NM_006044.4(HDAC6):c.2786T>C (p.Ile929Thr)	HDAC6 (I943T +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked dominant chondrodysplasia, Chassaing-Lacombe type +1 more	GBenign/Likely benign
Select item 717434	NM_006044.4(HDAC6):c.513C>T (p.Tyr171=)	HDAC6	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 65387	NM_006044.4(HDAC6):c.*282A>T	HDAC6	Single nucleotide variant (3 prime UTR variant +1 more)	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	GPathogenic

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