Related gene-specific medical variations for Gene (Select 1457) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359031	NM_177559.3(CSNK2A1):c.139C>T (p.Arg47Ter)	CSNK2A1 (R47*)	Single nucleotide variant (nonsense +1 more)	Okur-Chung neurodevelopmental syndrome	GPathogenic
Select item 3248335	NC_000020.10:g.(?_454510)_(485873_?)dup	CSNK2A1	Duplication	not provided	GLikely benign
Select item 2663860	NM_177559.3(CSNK2A1):c.572G>A (p.Arg191Gln)	CSNK2A1 (R191Q +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GPathogenic
Select item 2440586	NM_177559.3(CSNK2A1):c.385A>G (p.Thr129Ala)	CSNK2A1 (T129A)	Single nucleotide variant (missense variant +1 more)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2440585	NM_177559.3(CSNK2A1):c.102-3C>T	CSNK2A1	Single nucleotide variant (intron variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2440583	NM_177559.3(CSNK2A1):c.809A>G (p.Asn270Ser)	CSNK2A1 (N134S +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2440582	NM_177559.3(CSNK2A1):c.955A>G (p.Met319Val)	CSNK2A1 (M183V +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2440581	NM_177559.3(CSNK2A1):c.366+9T>C	CSNK2A1	Single nucleotide variant (intron variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 1992354	NM_177559.3(CSNK2A1):c.704G>T (p.Gly235Val)	CSNK2A1 (G99V +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 1992315	NM_177559.3(CSNK2A1):c.151_152delinsCC (p.Ser51Pro)	CSNK2A1 (S51P)	Indel (missense variant +1 more)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 1700219	NM_177559.3(CSNK2A1):c.584G>C (p.Arg195Pro)	CSNK2A1 (R195P +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 871368	NM_177559.3(CSNK2A1):c.327dup (p.Ala110fs)	CSNK2A1 (A110fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic