"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HDC"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 713554	NM_002112.4(HDC):c.1480A>G (p.Ile494Val)	HDC (I461V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2645325	NM_002112.4(HDC):c.813C>T (p.His271=)	HDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645326	NM_002112.4(HDC):c.75G>A (p.Val25=)	HDC	Single nucleotide variant (synonymous variant)	HDC-related condition +1 more	GLikely benign
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	DTWD1, AP4E1 +10 more	Copy number loss	not provided	GUncertain significance

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