"PreventionGenetics, part of Exact Sciences"[submitter] AND "DDX59"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058319	NM_001320181.2(DDX59):c.1632T>G (p.Ile544Met)	DDX59 (I544M)	Single nucleotide variant (missense variant +1 more)	DDX59-related disorder	GLikely benign
Select item 728607	NM_001031725.6(DDX59):c.1538G>A (p.Ser513Asn)	DDX59 (S513N +2 more)	Single nucleotide variant (missense variant +1 more)	DDX59-related disorder +1 more	GBenign
Select item 1664875	NM_001031725.6(DDX59):c.1253G>A (p.Arg418His)	DDX59 (R418H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2044854	NM_001031725.6(DDX59):c.1213A>G (p.Ile405Val)	DDX59 (I405V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2635522	NM_001031725.6(DDX59):c.1197del (p.His400fs)	DDX59 (H400fs)	Deletion (frameshift variant +1 more)	DDX59-related disorder	GUncertain significance
Select item 714101	NM_001031725.6(DDX59):c.966T>C (p.His322=)	DDX59	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 775059	NM_001031725.6(DDX59):c.946C>A (p.Leu316Ile)	DDX59 (L316I)	Single nucleotide variant (missense variant)	DDX59-related disorder +1 more	GLikely benign
Select item 2672376	NM_001031725.6(DDX59):c.919G>A (p.Val307Ile)	DDX59 (V307I)	Single nucleotide variant (missense variant)	DDX59-related disorder +1 more	GBenign
Select item 715869	NM_001031725.6(DDX59):c.753A>G (p.Ser251=)	DDX59	Single nucleotide variant (synonymous variant)	DDX59-related disorder +1 more	GLikely benign
Select item 2692843	NM_001031725.6(DDX59):c.621T>C (p.His207=)	DDX59	Single nucleotide variant (synonymous variant)	DDX59-related disorder +1 more	GLikely benign
Select item 770684	NM_001031725.6(DDX59):c.251G>C (p.Ser84Thr)	DDX59 (S84T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 770685	NM_001031725.6(DDX59):c.148G>C (p.Ala50Pro)	DDX59 (A50P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3043217	NM_001031725.6(DDX59):c.123C>T (p.Pro41=)	DDX59	Single nucleotide variant (synonymous variant)	DDX59-related disorder	GLikely benign
Select item 3049785	NM_001031725.6(DDX59):c.84C>T (p.Asp28=)	DDX59	Single nucleotide variant (synonymous variant)	DDX59-related disorder	GLikely benign