C3810023[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435303	NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)	PUF60 (T402A +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2435302	NM_078480.3(PUF60):c.1381-3_1381-2del	PUF60	Microsatellite (splice acceptor variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2435304	NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)	PUF60 (S336L +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2435300	NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)	PUF60 (G289A +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2435301	NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)	PUF60 (P245L +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 488889	NM_078480.3(PUF60):c.713C>G (p.Ser238Ter)	PUF60 (S238* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1324971	NM_078480.3(PUF60):c.472del (p.Ile158fs)	PUF60 (I112fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1324972	NM_078480.3(PUF60):c.24+1G>T	LOC126860549, PUF60	Single nucleotide variant (splice donor variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 2435305	NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)	LOC126860549, PUF60 (A4G)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome +2 more	GConflicting classifications of pathogenicity