"GeneDx"[submitter] AND "TP53RK"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1229334	NM_033550.4(TP53RK):c.*46G>A	TP53RK	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 812787	NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)	TP53RK (R243C)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 1261671	NM_033550.4(TP53RK):c.385A>G (p.Thr129Ala)	TP53RK (T129A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245432	NM_033550.4(TP53RK):c.368G>A (p.Arg123Gln)	TP53RK (R123Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1266969	NM_033550.4(TP53RK):c.283+85G>C	LOC130065997, TP53RK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230926	NM_033550.4(TP53RK):c.12C>T (p.Ala4=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1229947	NM_033550.4(TP53RK):c.-16G>C	LOC130065998, TP53RK +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1676441	NM_033550.4(TP53RK):c.309dup (p.Val104fs)	TP53RK (V104fs)	Duplication	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar