"CNTN6-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2629989	NM_001289080.2(CNTN6):c.16A>G (p.Lys6Glu)	CNTN6 (K6E)	Single nucleotide variant (missense variant +2 more)	CNTN6-related disorder	GUncertain significance
Select item 3048542	NM_001289080.2(CNTN6):c.171G>A (p.Ser57=)	CNTN6	Single nucleotide variant (synonymous variant +1 more)	CNTN6-related disorder	GLikely benign
Select item 773864	NM_001289080.2(CNTN6):c.288C>T (p.Gly96=)	CNTN6	Single nucleotide variant (synonymous variant +1 more)	CNTN6-related disorder +1 more	GBenign
Select item 3044328	NM_001289080.2(CNTN6):c.383C>T (p.Thr128Ile)	CNTN6 (T128I +1 more)	Single nucleotide variant (missense variant +1 more)	CNTN6-related disorder	GLikely benign
Select item 778061	NM_001289080.2(CNTN6):c.449T>C (p.Phe150Ser)	CNTN6 (F150S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2629105	NM_001289080.2(CNTN6):c.560A>G (p.Glu187Gly)	CNTN6 (E115G +1 more)	Single nucleotide variant (missense variant +2 more)	CNTN6-related disorder	GUncertain significance
Select item 3058045	NM_001289080.2(CNTN6):c.643G>C (p.Val215Leu)	CNTN6 (V143L +1 more)	Single nucleotide variant (missense variant +2 more)	CNTN6-related disorder	GUncertain significance
Select item 2653438	NM_001289080.2(CNTN6):c.649C>T (p.Arg217Cys)	CNTN6 (R145C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2653439	NM_001289080.2(CNTN6):c.1198G>C (p.Glu400Gln)	CNTN6 (E26Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 785029	NM_001289080.2(CNTN6):c.1318G>T (p.Ala440Ser)	CNTN6 (A66S +5 more)	Single nucleotide variant (missense variant)	CNTN6-related disorder +1 more	GBenign
Select item 721103	NM_001289080.2(CNTN6):c.1392C>G (p.Leu464=)	CNTN6	Single nucleotide variant (synonymous variant)	CNTN6-related disorder +1 more	GBenign
Select item 3025134	NM_001289080.2(CNTN6):c.1585A>C (p.Ile529Leu)	CNTN6 (I155L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 715446	NM_001289080.2(CNTN6):c.1637A>G (p.Lys546Arg)	CNTN6 (K172R +5 more)	Single nucleotide variant (missense variant)	CNTN6-related disorder +1 more	GBenign
Select item 776346	NM_001289080.2(CNTN6):c.1668+8A>T	CNTN6	Single nucleotide variant (intron variant)	CNTN6-related disorder +1 more	GBenign/Likely benign
Select item 3040004	NM_001289080.2(CNTN6):c.1770C>T (p.Ala590=)	CNTN6	Single nucleotide variant (synonymous variant)	CNTN6-related disorder	GLikely benign
Select item 2629570	NM_001289080.2(CNTN6):c.1833T>A (p.Ser611Arg)	CNTN6 (S237R +5 more)	Single nucleotide variant (missense variant)	CNTN6-related disorder	GUncertain significance
Select item 3060973	NM_001289080.2(CNTN6):c.2160G>A (p.Thr720=)	CNTN6	Single nucleotide variant (synonymous variant)	CNTN6-related disorder	GBenign
Select item 3039588	NM_001289080.2(CNTN6):c.2187G>A (p.Gln729=)	CNTN6	Single nucleotide variant (synonymous variant)	CNTN6-related disorder	GLikely benign
Select item 3054257	NM_001289080.2(CNTN6):c.2457G>T (p.Met819Ile)	CNTN6 (M445I +5 more)	Single nucleotide variant (missense variant)	CNTN6-related disorder	GLikely benign
Select item 3038543	NM_001289080.2(CNTN6):c.2523A>G (p.Leu841=)	CNTN6	Single nucleotide variant (synonymous variant)	CNTN6-related disorder	GLikely benign
Select item 3029568	NM_001289080.2(CNTN6):c.2607G>T (p.Leu869=)	CNTN6	Single nucleotide variant (synonymous variant)	CNTN6-related disorder	GLikely benign
Select item 3041873	NM_001289080.2(CNTN6):c.2664G>A (p.Gly888=)	CNTN6	Single nucleotide variant (synonymous variant)	CNTN6-related disorder	GBenign
Select item 2633189	NM_001289080.2(CNTN6):c.2942G>C (p.Gly981Ala)	CNTN6 (G607A +5 more)	Single nucleotide variant (missense variant)	CNTN6-related disorder	GUncertain significance
Select item 3057265	NM_001289080.2(CNTN6):c.2957G>C (p.Ser986Thr)	CNTN6 (S612T +5 more)	Single nucleotide variant (missense variant)	CNTN6-related disorder	GLikely benign
Select item 708652	NM_001289080.2(CNTN6):c.3070A>C (p.Ile1024Leu)	CNTN6 (I1024L +5 more)	Single nucleotide variant (missense variant)	CNTN6-related disorder +1 more	GBenign

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Items: 25