ClinVar for MedGen (Select 1613511) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806243	NM_033550.4(TP53RK):c.616G>C (p.Ala206Pro)	TP53RK (A206P)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 1804894	NM_033550.4(TP53RK):c.185G>A (p.Arg62His)	TP53RK (R62H)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 1676441	NM_033550.4(TP53RK):c.309dup (p.Val104fs)	TP53RK (V104fs)	Duplication	Galloway-Mowat syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 1210333	NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln)	TP53RK (K65Q)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GLikely pathogenic
Select item 1032343	NM_033550.4(TP53RK):c.544A>G (p.Ile182Val)	TP53RK (I182V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 1032341	NM_033550.4(TP53RK):c.337A>G (p.Met113Val)	TP53RK (M113V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 1029039	NM_033550.4(TP53RK):c.598C>G (p.Leu200Val)	TP53RK (L200V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 813579	NM_033550.4(TP53RK):c.15_16dup (p.Ala6fs)	LOC130065998, TP53RK +1 more (A6fs)	Microsatellite (frameshift variant)	Galloway-Mowat syndrome 4	GUncertain significance
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 783076	NM_033550.4(TP53RK):c.519C>G (p.Pro173=)	TP53RK	Single nucleotide variant (synonymous variant)	TP53RK-related disorder +2 more	GLikely benign
Select item 726027	NM_033550.4(TP53RK):c.433A>G (p.Thr145Ala)	TP53RK (T145A)	Single nucleotide variant (missense variant)	TP53RK-related disorder +2 more	GBenign/Likely benign
Select item 444883	NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu)	TP53RK (R243L)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GPathogenic
Select item 444882	NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp)	TP53RK (G42D)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GPathogenic
Select item 444881	NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg)	TP53RK (T81R)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GPathogenic
Select item 444880	NM_033550.4(TP53RK):c.179del (p.Lys60fs)	TP53RK (K60fs)	Deletion (frameshift variant)	Galloway-Mowat syndrome 4	GPathogenic