"Genome-Nilou Lab"[submitter] AND "TCIRG1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305782	NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp)	TCIRG1 (R56W)	Single nucleotide variant (5 prime UTR variant +1 more)	Increased bone mineral density +3 more	GBenign
Select item 197265	NM_006019.4(TCIRG1):c.384C>T (p.His128=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 197264	NM_006019.4(TCIRG1):c.417+11A>G	TCIRG1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1180561	NM_006019.4(TCIRG1):c.1020+152G>T	TCIRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 235632	NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=)	TCIRG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 194236	NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)	TCIRG1	Single nucleotide variant (synonymous variant)	Autosomal recessive osteopetrosis 1 +2 more	GBenign/Likely benign
Select item 1209799	NM_006019.4(TCIRG1):c.1894G>A (p.Val632Ile)	TCIRG1 (V334I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 497920	NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)	TCIRG1	Single nucleotide variant (synonymous variant)	Autosomal recessive osteopetrosis 1 +1 more	GConflicting classifications of pathogenicity

ClinVar