"PreventionGenetics, part of Exact Sciences"[submitter] AND "HDC"[gene - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060900	NM_002112.4(HDC):c.1614T>C (p.Asn538=)	HDC	Single nucleotide variant (synonymous variant)	HDC-related disorder	GBenign
Select item 3038401	NM_002112.4(HDC):c.1524T>C (p.Ser508=)	HDC	Single nucleotide variant (synonymous variant)	HDC-related disorder	GLikely benign
Select item 3034600	NM_002112.4(HDC):c.561C>T (p.Ala187=)	HDC	Single nucleotide variant (synonymous variant)	HDC-related disorder	GLikely benign
Select item 1227379	NM_002112.4(HDC):c.92C>T (p.Thr31Met)	HDC (T31M)	Single nucleotide variant (missense variant)	HDC-related disorder +1 more	GBenign
Select item 2645326	NM_002112.4(HDC):c.75G>A (p.Val25=)	HDC	Single nucleotide variant (synonymous variant)	HDC-related disorder +1 more	GLikely benign

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