Related gene-specific medical variations for Gene (Select 22866) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685443	GRCh37/hg19 Xp22.12(chrX:21500494-21574694)x0	CNKSR2	Copy number loss	not provided	GPathogenic
Select item 2671822	NM_014927.5(CNKSR2):c.1657+1G>A	CNKSR2	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked, syndromic, Houge type	GLikely pathogenic
Select item 2440160	NM_014927.5(CNKSR2):c.2228A>C (p.Glu743Ala)	CNKSR2 (E664A +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 2440159	NM_014927.5(CNKSR2):c.1679A>G (p.Lys560Arg)	CNKSR2 (K481R +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 2440158	NM_014927.5(CNKSR2):c.1268G>A (p.Ser423Asn)	CNKSR2 (S374N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 1809310	GRCh37/hg19 Xp22.12(chrX:21194383-21624986)x2	CNKSR2	Copy number gain	not provided	GUncertain significance
Select item 1324091	NM_014927.5(CNKSR2):c.1564C>T (p.Gln522Ter)	CNKSR2 (Q443* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, syndromic, Houge type	GLikely pathogenic
Select item 1319775	NM_014927.5(CNKSR2):c.2884T>G (p.Leu962Val)	CNKSR2 (L883V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275787	NM_014927.5(CNKSR2):c.1295dup (p.Thr433fs)	CNKSR2 (T384fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1213765	NM_014927.5(CNKSR2):c.1219G>A (p.Glu407Lys)	CNKSR2 (E358K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 996985	NM_014927.5(CNKSR2):c.2637GGA[5] (p.Glu885_Glu886del)	CNKSR2	Microsatellite (inframe_deletion)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 996895	NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter)	CNKSR2 (Q460* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, syndromic, Houge type	GLikely pathogenic
Select item 987087	NM_014927.5(CNKSR2):c.298C>T (p.Gln100Ter)	CNKSR2 (Q100*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 931028	NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn)	CNKSR2 (D25N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 930649	NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln)	CNKSR2 (E445Q +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 872223	NM_014927.5(CNKSR2):c.3088A>C (p.Ile1030Leu)	CNKSR2 (I951L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810529	NM_014927.5(CNKSR2):c.2495T>C (p.Met832Thr)	CNKSR2 (M802T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 688073	GRCh37/hg19 Xp22.12(chrX:21442277-21496056)x2	CNKSR2	Copy number gain	not provided	GUncertain significance
Select item 687413	GRCh37/hg19 Xp22.12(chrX:21453267-21492209)x2	CNKSR2	Copy number gain	not provided	GUncertain significance
Select item 488441	NM_014927.5(CNKSR2):c.1303+1G>C	CNKSR2	Single nucleotide variant (splice donor variant)	X-linked recessive seizure and neurodevelopmental deficit	GLikely pathogenic
Select item 149741	GRCh38/hg38 Xp22.12(chrX:21356600-21624363)x0	CNKSR2	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 21