Related gene-specific medical variations for Gene (Select 55621) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582353	NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)	TRMT1 (C126fs +3 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal recessive 68	GLikely pathogenic
Select item 2441950	NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)	TRMT1 (L201P +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 68	GUncertain significance
Select item 1708177	NM_001136035.4(TRMT1):c.458del (p.Gly153fs)	TRMT1 (G117fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 68	GPathogenic
Select item 1325620	NM_001136035.4(TRMT1):c.21G>A (p.Trp7Ter)	TRMT1 (W7*)	Single nucleotide variant (nonsense +2 more)	Intellectual developmental disorder, autosomal recessive 68	GUncertain significance
Select item 444449	NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)	TRMT1 (K94fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 444448	NM_001136035.4(TRMT1):c.1107-2A>G	TRMT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

ClinVar