"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "WBP11"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2642757	NM_016312.3(WBP11):c.1397G>A (p.Arg466Gln)	WBP11 (R466Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027289	NM_016312.3(WBP11):c.1396C>T (p.Arg466Ter)	WBP11 (R466*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2642758	NM_016312.3(WBP11):c.1213C>T (p.Pro405Ser)	WBP11 (P405S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642759	NM_016312.3(WBP11):c.1203G>C (p.Gln401His)	WBP11 (Q401H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2398314	NM_016312.3(WBP11):c.1148C>T (p.Thr383Ile)	WBP11 (T383I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	RECQL, RERG +85 more	Copy number loss	not provided	GPathogenic

ClinVar