"Ambry Genetics"[submitter] AND "CSNK2B"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230892	NM_001320.7(CSNK2B):c.67T>C (p.Cys23Arg)	CSNK2B (C23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985139	NM_001320.7(CSNK2B):c.72+1G>A	CSNK2B	Single nucleotide variant (splice donor variant)	Poirier-Bienvenu neurodevelopmental syndrome +2 more	GPathogenic/Likely pathogenic
Select item 521208	NM_001320.7(CSNK2B):c.73-2A>G	CSNK2B	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 520596	NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)	CSNK2B (D32N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1690342	NM_001320.7(CSNK2B):c.107T>C (p.Leu36Pro)	CSNK2B (L36P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 2229410	NM_001320.7(CSNK2B):c.116T>C (p.Leu39Pro)	CSNK2B (L39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581063	NM_001320.7(CSNK2B):c.124C>T (p.Gln42Ter)	CSNK2B (Q42*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 426599	NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter)	CSNK2B (R47*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 521835	NM_001320.7(CSNK2B):c.238T>A (p.Tyr80Asn)	CSNK2B (Y80N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985413	NM_001320.7(CSNK2B):c.245T>A (p.Leu82Ter)	CSNK2B (L82*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 985324	NM_001320.7(CSNK2B):c.256C>T (p.Arg86Cys)	CSNK2B (R86C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1709734	NM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter)	CSNK2B (S146* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2285081	NM_001320.7(CSNK2B):c.464_467del (p.Asp155fs)	CSNK2B (D152fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2545124	NM_001320.7(CSNK2B):c.491C>T (p.Pro164Leu)	CSNK2B (P161L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701847	NM_001320.7(CSNK2B):c.495_496del (p.Met166fs)	CSNK2B (M163fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder +1 more	GPathogenic
Select item 985080	NM_001320.7(CSNK2B):c.566G>T (p.Gly189Val)	CSNK2B (G186V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance