"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235740	NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)	TCIRG1 (P161L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 235702	NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)	TCIRG1 (A417T +2 more)	Single nucleotide variant (missense variant)	Increased bone mineral density +2 more	GConflicting classifications of pathogenicity
Select item 194236	NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)	TCIRG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 189246	NM_006019.4(TCIRG1):c.1674-1G>A	TCIRG1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 305811	NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)	TCIRG1	Single nucleotide variant (synonymous variant)	Autosomal recessive osteopetrosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 305817	NM_006019.4(TCIRG1):c.2162T>A (p.Ile721Asn)	TCIRG1 (I721N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 305824	NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr)	TCIRG1 (A826T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign

ClinVar