C5567480[trait identifier] AND "Undiagnosed Diseases Network, NIH"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978028	NM_001163435.3(TBCK):c.2060-6793_2235+427del	TBCK	Deletion (splice acceptor variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 584451	NM_001163435.3(TBCK):c.2060_2235+1del	TBCK	Deletion (splice acceptor variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 636243	NM_001163435.3(TBCK):c.1860+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic
Select item 638592	NM_001163435.3(TBCK):c.659-1G>A	TBCK	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 977749	NM_001163435.3(TBCK):c.456-2A>G	TBCK	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 638602	NM_001163435.2(TBCK):c.2060-9050_2235+26133del	TBCK	Deletion	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 977748	NC_000004.12:g.106168703_106217941del	TBCK	Deletion	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic

ClinVar