"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337882	NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)	THBD (P501L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 12720	NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)	THBD (P495S)	Single nucleotide variant (missense variant)	THBD-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 12714	NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)	THBD (D486Y)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GBenign
Select item 337883	NM_000361.3(THBD):c.1418C>T (p.Ala473Val)	THBD (A473V)	Single nucleotide variant (missense variant)	THBD-related disorder +3 more	GBenign
Select item 1012478	NM_000361.3(THBD):c.1356C>A (p.Ser452=)	THBD	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GBenign/Likely benign
Select item 337885	NM_000361.3(THBD):c.1092G>A (p.Glu364=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +3 more	GBenign
Select item 337886	NM_000361.3(THBD):c.1083G>A (p.Glu361=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GLikely benign
Select item 1712464	NM_000361.3(THBD):c.1057C>A (p.Pro353Thr)	THBD (P353T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712434	NM_000361.3(THBD):c.563C>G (p.Ala188Gly)	THBD (A188G)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 12718	NM_000361.3(THBD):c.127G>A (p.Ala43Thr)	THBD (A43T)	Single nucleotide variant (missense variant)	THBD-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1012479	NM_000361.3(THBD):c.57A>T (p.Ala19=)	THBD	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity