"Blueprint Genetics"[submitter] AND "WDR19"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562401	NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)	WDR19 (F5S)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 866355	NM_025132.4(WDR19):c.291-9A>G	WDR19	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866918	NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr)	WDR19 (S101Y)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 632439	NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)	WDR19 (L214* +1 more)	Single nucleotide variant (nonsense)	WDR19-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 866920	NM_025132.4(WDR19):c.1778G>T (p.Gly593Val)	WDR19 (G593V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 636614	NM_025132.4(WDR19):c.1997G>A (p.Trp666Ter)	WDR19 (W666* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 348748	NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)	WDR19	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 127157	NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)	WDR19 (E1235K +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 72 +5 more	GPathogenic/Likely pathogenic
Select item 866286	NM_025132.4(WDR19):c.3851T>C (p.Met1284Thr)	WDR19 (M1124T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance