"WDR72-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316581	NM_182758.4(WDR72):c.3149-30CT[14]	WDR72	Microsatellite (intron variant)	Amelogenesis Imperfecta, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 316582	NM_182758.4(WDR72):c.3149-30CT[10]	WDR72	Microsatellite (intron variant)	Amelogenesis Imperfecta, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 3060377	NM_182758.4(WDR72):c.3149-17738A>G	WDR72	Single nucleotide variant (synonymous variant +2 more)	WDR72-related condition	GBenign
Select item 3029744	NM_182758.4(WDR72):c.3149-17739_3149-17738inv	WDR72 (P7L)	Inversion (missense variant +2 more)	WDR72-related condition	GUncertain significance
Select item 316586	NM_182758.4(WDR72):c.2694A>G (p.Ser898=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	WDR72-related condition +1 more	GConflicting classifications of pathogenicity
Select item 887896	NM_182758.4(WDR72):c.2357T>G (p.Val786Gly)	WDR72 (V786G)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GConflicting classifications of pathogenicity
Select item 3045728	NM_182758.4(WDR72):c.2299A>G (p.Lys767Glu)	WDR72 (K767E)	Single nucleotide variant (missense variant +1 more)	WDR72-related condition	GBenign
Select item 3058257	NM_182758.4(WDR72):c.1569+8G>A	WDR72	Single nucleotide variant (intron variant)	WDR72-related condition	GLikely benign
Select item 316595	NM_182758.4(WDR72):c.1437A>C (p.Gln479His)	WDR72 (Q479H)	Single nucleotide variant (missense variant +1 more)	WDR72-related condition +1 more	GBenign/Likely benign
Select item 884816	NM_182758.4(WDR72):c.363G>A (p.Met121Ile)	WDR72 (M121I)	Single nucleotide variant (missense variant +1 more)	WDR72-related condition +1 more	GConflicting classifications of pathogenicity