C5567480[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974885	NM_001163435.3(TBCK):c.1170+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 1333794	NM_001163435.3(TBCK):c.347C>T (p.Ala116Val)	TBCK (A116V)	Single nucleotide variant (missense variant +2 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance