ClinVar for MedGen (Select 900688) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362631	NM_153365.3(TAPT1):c.846+2T>A	TAPT1	Single nucleotide variant (splice donor variant)	Complex lethal osteochondrodysplasia	GPathogenic
Select item 3068159	NM_153365.3(TAPT1):c.1673G>A (p.Arg558Lys)	TAPT1 (R558K)	Single nucleotide variant (missense variant)	Complex lethal osteochondrodysplasia	GUncertain significance
Select item 1261045	NM_153365.3(TAPT1):c.200-16A>C	TAPT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1252088	NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter)	TAPT1 (R386*)	Single nucleotide variant (nonsense)	Complex lethal osteochondrodysplasia	GLikely pathogenic
Select item 1212785	NM_153365.3(TAPT1):c.137T>G (p.Leu46Arg)	LOC129992296, TAPT1 (L46R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 690289	NM_153365.3(TAPT1):c.1032G>T (p.Met344Ile)	TAPT1 (M344I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 224907	NM_153365.3(TAPT1):c.1058A>T (p.Asp353Val)	TAPT1 (D353V)	Single nucleotide variant (missense variant)	Complex lethal osteochondrodysplasia	GPathogenic
Select item 224906	NM_153365.3(TAPT1):c.1108-1G>C	TAPT1	Single nucleotide variant (splice acceptor variant)	Complex lethal osteochondrodysplasia	GPathogenic

ClinVar