"Pediatric Nephrology Laboratory, The University of Tokyo Hospital"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827646	NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter)	LMX1B (E57*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 7007	NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln)	LMX1B (R223Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 827647	NM_001174147.2(LMX1B):c.783dup (p.Val262fs)	LMX1B (V262fs)	Duplication (frameshift variant)	Nail-patella syndrome	GPathogenic
Select item 827649	NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe)	LMX1B (V265F)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GPathogenic
Select item 827648	NM_001174147.2(LMX1B):c.793G>C (p.Val265Leu)	LMX1B (V265L)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GPathogenic
Select item 827650	NM_001174147.2(LMX1B):c.806_811del (p.Asn269_Gln270del)	LMX1B	Deletion (inframe_deletion)	Nail-patella syndrome	GPathogenic
Select item 827651	NM_001174147.2(LMX1B):c.819+1G>A	LMX1B	Single nucleotide variant (splice donor variant)	Nail-patella syndrome	GPathogenic

ClinVar