"Genome-Nilou Lab"[submitter] AND "WDR81"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130737	NM_001163809.2(WDR81):c.2739G>A (p.Leu913=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 130740	NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GBenign
Select item 130741	NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GBenign
Select item 130742	NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GBenign
Select item 1185334	NM_001163809.2(WDR81):c.5506-19C>G	WDR81	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GBenign
Select item 130745	NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GBenign
Select item 130746	NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=)	WDR81	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1185335	NM_001163809.2(WDR81):c.*56A>G	WDR81	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GBenign