Related gene-specific medical variations for Gene (Select 9734) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685236	GRCh37/hg19 7p21.1(chr7:18168602-18226800)x1	HDAC9	Copy number loss	not provided	GUncertain significance
Select item 2589689	NM_178425.4(HDAC9):c.2430C>A (p.Asp810Glu)	HDAC9, LOC110121290 (D766E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497693	NM_178425.4(HDAC9):c.2252C>G (p.Ser751Cys)	HDAC9 (S707C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807625	GRCh37/hg19 7p21.1(chr7:18954983-19024233)x1	HDAC9	Copy number loss	not provided	GUncertain significance
Select item 1527340	GRCh37/hg19 7p21.1(chr7:18496294-18587655)	HDAC9	Copy number loss	not specified	GUncertain significance
Select item 710590	NM_178425.4(HDAC9):c.2379-5C>T	HDAC9, LOC110121290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687289	GRCh37/hg19 7p21.1(chr7:18531319-18615140)x3	HDAC9	Copy number gain	not provided	GUncertain significance
Select item 563335	GRCh37/hg19 7p21.1(chr7:18149462-18471405)x1	HDAC9	Copy number loss	not provided	GLikely benign
Select item 442394	GRCh37/hg19 7p21.1(chr7:18370746-18883950)x1	HDAC9	Copy number loss	See cases	GUncertain significance
Select item 58863	GRCh38/hg38 7p21.1(chr7:18638299-18797297)x1	HDAC9	Copy number loss	See cases	GUncertain significance