ClinVar for MedGen (Select 1617227) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065453	NM_016058.5(TPRKB):c.445T>A (p.Tyr149Asn)	TPRKB (Y116N +3 more)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 5	GLikely pathogenic
Select item 1334895	NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del)	TPRKB (R31del)	Microsatellite (inframe_deletion +2 more)	Galloway-Mowat syndrome 5	GUncertain significance
Select item 1253010	NM_016058.5(TPRKB):c.474T>C (p.Ile158=)	TPRKB	Single nucleotide variant (synonymous variant)	Galloway-Mowat syndrome 5 +1 more	GBenign
Select item 764552	NM_016058.5(TPRKB):c.390G>A (p.Gln130=)	TPRKB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 444885	NM_016058.5(TPRKB):c.446A>G (p.Tyr149Cys)	TPRKB (Y149C +3 more)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 5	GPathogenic
Select item 444884	NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro)	TPRKB (L136P +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome +1 more	GConflicting classifications of pathogenicity

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