"Fulgent Genetics, Fulgent Genetics"[submitter] AND "WDR72"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316580	NM_182758.4(WDR72):c.3149-30CT[13]	WDR72	Microsatellite (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GLikely benign
Select item 316583	NM_182758.4(WDR72):c.2741T>C (p.Leu914Ser)	WDR72 (L914S)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 522610	NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter)	WDR72 (R896*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GPathogenic
Select item 887895	NM_182758.4(WDR72):c.2444G>A (p.Cys815Tyr)	WDR72 (C815Y)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316591	NM_182758.4(WDR72):c.1839G>A (p.Val613=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis Imperfecta, Recessive +2 more	GLikely benign
Select item 161415	NM_182758.4(WDR72):c.1467_1468del (p.Val491fs)	WDR72 (V491fs)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GPathogenic
Select item 316597	NM_182758.4(WDR72):c.1207G>A (p.Gly403Arg)	WDR72 (G403R)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GUncertain significance
Select item 887956	NM_182758.4(WDR72):c.857+9A>C	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GLikely benign
Select item 884813	NM_182758.4(WDR72):c.739C>T (p.Leu247=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884814	NM_182758.4(WDR72):c.737T>G (p.Leu246Arg)	WDR72 (L246R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 885746	NM_182758.4(WDR72):c.243T>C (p.Val81=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 517616	NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)	WDR72 (R30*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GLikely pathogenic