Related gene-specific medical variations for Gene (Select 1663) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498553	Single allele	DDX11	Duplication (non-coding transcript variant)	not provided	GLikely benign
Select item 2440725	NM_030653.4(DDX11):c.2087G>A (p.Cys696Tyr)	DDX11 (C374Y +5 more)	Single nucleotide variant (missense variant +1 more)	Warsaw breakage syndrome	GUncertain significance
Select item 2440724	NM_030653.4(DDX11):c.1234G>A (p.Gly412Ser)	DDX11 (G125S +5 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 806855	NM_030653.4(DDX11):c.1841G>A (p.Arg614Gln)	DDX11 (R614Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376800	NM_030653.4(DDX11):c.1160_1165del (p.Asp387_Gln388del)	DDX11	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 221848	GRCh37/hg19 12p11.21(chr12:31157554-31391194)x3	DDX11	Copy number gain	Premature ovarian failure	GBenign

ClinVar