"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TRIM54"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234426	NM_187841.3(TRIM54):c.156C>T (p.Asn52=)	TRIM54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 871083	NM_187841.3(TRIM54):c.394G>T (p.Glu132Ter)	TRIM54 (E132*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 444491	NM_187841.3(TRIM54):c.513+1del	TRIM54	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1176732	NM_187841.3(TRIM54):c.584T>G (p.Met195Arg)	TRIM54 (M195R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027416	NM_187841.3(TRIM54):c.610-6T>G	TRIM54	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 623968	NM_187841.3(TRIM54):c.992-1G>A	TRIM54	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	HADHA, HADHB +131 more	Copy number gain	not provided	GLikely pathogenic

ClinVar