"Bristol Genetics Laboratory, North Bristol NHS Trust"[submitter] AND - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425568	NM_078480.3(PUF60):c.1577_1587del (p.His526fs)	PUF60 (H466fs +9 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 425566	NM_078480.3(PUF60):c.1472G>A (p.Gly491Glu)	PUF60 (G491E +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 374297	NM_078480.3(PUF60):c.1381-2A>G	PUF60	Single nucleotide variant (splice acceptor variant)	8q24.3 microdeletion syndrome +1 more	GLikely pathogenic
Select item 425572	NM_078480.3(PUF60):c.1094dup (p.Thr366fs)	PUF60 (T337fs +9 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 425570	NM_078480.3(PUF60):c.1008+1G>A	PUF60	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 425564	NM_078480.3(PUF60):c.931_932insAAAA (p.Thr311fs)	PUF60 (T251fs +9 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 425573	NM_078480.3(PUF60):c.619_637del (p.Asn207fs)	PUF60 (N189fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 425571	NM_078480.3(PUF60):c.604-2A>C	PUF60	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 425565	NM_078480.3(PUF60):c.604-2A>G	PUF60	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 425567	NM_078480.3(PUF60):c.541G>A (p.Glu181Lys)	PUF60 (E181K +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 425569	NM_078480.3(PUF60):c.475G>A (p.Asp159Asn)	PUF60 (D159N +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 421831	NM_078480.3(PUF60):c.24+1G>A	LOC126860549, PUF60	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic