C4225203[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1373605	NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter)	UNC80 (R96*)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GPathogenic
Select item 268207	NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)	UNC80 (Q602H)	Single nucleotide variant (missense variant)	UNC80-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1699471	NM_001371986.1(UNC80):c.6976C>T (p.Gln2326Ter)	UNC80 (Q2255* +2 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 1805379	NM_001371986.1(UNC80):c.8513C>G (p.Ser2838Cys)	UNC80 (S2767C +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1699440	NM_001371986.1(UNC80):c.8772+1G>A	UNC80	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1518087	NM_001371986.1(UNC80):c.9497C>T (p.Thr3166Met)	UNC80 (T3076M +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance

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