"DBR1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2053955	NM_016216.4(DBR1):c.1352C>T (p.Ser451Leu)	DBR1 (S451L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2632221	NM_016216.4(DBR1):c.979G>T (p.Val327Leu)	DBR1 (V327L)	Single nucleotide variant (missense variant)	DBR1-related disorder	GUncertain significance
Select item 2888595	NM_016216.4(DBR1):c.381T>C (p.Phe127=)	DBR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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