"PreventionGenetics, part of Exact Sciences"[submitter] AND "DTHD1"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1145720	NM_001170700.3(DTHD1):c.263C>T (p.Ser88Leu)	DTHD1 (S88L)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3039191	NM_001170700.3(DTHD1):c.501G>A (p.Glu167=)	DTHD1	Single nucleotide variant (synonymous variant +2 more)	DTHD1-related condition	GLikely benign
Select item 1166270	NM_001170700.3(DTHD1):c.902T>A (p.Leu301Gln)	DTHD1 (L11Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3053785	NM_001170700.3(DTHD1):c.910G>A (p.Val304Ile)	DTHD1 (V14I +1 more)	Single nucleotide variant (missense variant +1 more)	DTHD1-related condition	GLikely benign
Select item 1167513	NM_001170700.3(DTHD1):c.1112G>A (p.Arg371His)	DTHD1 (R371H +1 more)	Single nucleotide variant (missense variant +1 more)	DTHD1-related condition +1 more	GBenign/Likely benign
Select item 1095303	NM_001170700.3(DTHD1):c.1835T>C (p.Met612Thr)	DTHD1 (M301T +2 more)	Single nucleotide variant (missense variant +1 more)	DTHD1-related condition +1 more	GLikely benign
Select item 1165833	NM_001170700.3(DTHD1):c.1926C>T (p.Asp642=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	DTHD1-related condition +1 more	GBenign/Likely benign
Select item 1159104	NM_001170700.3(DTHD1):c.2184C>T (p.Asp728=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1090680	NM_001170700.3(DTHD1):c.2686G>A (p.Glu896Lys)	DTHD1 (E606K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign