C5567480[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1543643	NM_001163435.3(TBCK):c.2368A>G (p.Ser790Gly)	TBCK (S618G +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GConflicting classifications of pathogenicity
Select item 915385	NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)	TBCK (S657F +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 183338	NM_001163435.3(TBCK):c.1897+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GPathogenic
Select item 2070858	NM_001163435.3(TBCK):c.1588C>T (p.Arg530Cys)	TBCK (R467C +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GUncertain significance
Select item 2436979	NM_001163435.3(TBCK):c.1405C>G (p.Pro469Ala)	TBCK (P297A +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 2436978	NM_001163435.3(TBCK):c.1381A>G (p.Lys461Glu)	TBCK (K289E +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 1325174	NM_001163435.3(TBCK):c.1259T>A (p.Leu420Ter)	TBCK (L248* +3 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 429339	NM_001163435.3(TBCK):c.753dup (p.Lys252Ter)	TBCK (K213* +3 more)	Duplication (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic
Select item 2436977	NM_001163435.3(TBCK):c.193+2dup	TBCK	Duplication (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 1592110	NM_001163435.3(TBCK):c.60A>C (p.Pro20=)	TBCK	Single nucleotide variant (synonymous variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GConflicting classifications of pathogenicity