"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "WDR81"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2345695	NM_001163809.2(WDR81):c.17G>C (p.Gly6Ala)	WDR81 (G6A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3381150	NM_001163809.2(WDR81):c.459dup (p.Ala154fs)	WDR81 (A154fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3381151	NM_001163809.2(WDR81):c.1154G>A (p.Trp385Ter)	WDR81 (W385*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3380449	NM_001163809.2(WDR81):c.1217T>A (p.Leu406His)	WDR81 (L406H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380450	NM_001163809.2(WDR81):c.1478C>T (p.Pro493Leu)	WDR81 (P493L)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3380451	NM_001163809.2(WDR81):c.1583A>T (p.His528Leu)	WDR81 (H528L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2260609	NM_001163809.2(WDR81):c.2633C>T (p.Pro878Leu)	WDR81 (P878L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3380452	NM_001163809.2(WDR81):c.2746A>G (p.Ile916Val)	WDR81 (I916V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2382143	NM_001163809.2(WDR81):c.2822C>T (p.Thr941Met)	WDR81 (T941M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 547902	NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr)	WDR81 (A1029T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3380453	NM_001163809.2(WDR81):c.3839T>C (p.Ile1280Thr)	WDR81 (I1280T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249858	NM_001163809.2(WDR81):c.4225T>G (p.Cys1409Gly)	WDR81 (C206G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031894	NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met)	WDR81 (V660M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance