"CELSR2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 782975	NM_001408.3(CELSR2):c.376C>A (p.Gln126Lys)	CELSR2 (Q126K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 723963	NM_001408.3(CELSR2):c.903C>T (p.Asn301=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GBenign/Likely benign
Select item 778235	NM_001408.3(CELSR2):c.1150G>T (p.Ala384Ser)	CELSR2 (A384S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3049925	NM_001408.3(CELSR2):c.1792G>A (p.Val598Met)	CELSR2 (V598M)	Single nucleotide variant (missense variant)	CELSR2-related disorder	GBenign
Select item 732454	NM_001408.3(CELSR2):c.2001A>G (p.Val667=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GLikely benign
Select item 3050522	NM_001408.3(CELSR2):c.2084C>T (p.Thr695Met)	CELSR2 (T695M)	Single nucleotide variant (missense variant)	CELSR2-related disorder	GBenign
Select item 3057599	NM_001408.3(CELSR2):c.2178G>A (p.Pro726=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 1572221	NM_001408.3(CELSR2):c.2190G>A (p.Thr730=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GBenign
Select item 732909	NM_001408.3(CELSR2):c.2532T>C (p.Ser844=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GBenign
Select item 3041214	NM_001408.3(CELSR2):c.2583C>T (p.Asp861=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GBenign
Select item 3059473	NM_001408.3(CELSR2):c.2641C>T (p.Arg881Ter)	CELSR2 (R881*)	Single nucleotide variant (nonsense)	CELSR2-related disorder	GUncertain significance
Select item 3045686	NM_001408.3(CELSR2):c.3193G>C (p.Glu1065Gln)	CELSR2, LOC110121283 (E1065Q)	Single nucleotide variant (missense variant)	CELSR2-related disorder	GLikely benign
Select item 777929	NM_001408.3(CELSR2):c.3197G>A (p.Arg1066Gln)	CELSR2, LOC110121283 (R1066Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1540563	NM_001408.3(CELSR2):c.3378C>T (p.Thr1126=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 728933	NM_001408.3(CELSR2):c.3543C>T (p.Leu1181=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GLikely benign
Select item 3033110	NM_001408.3(CELSR2):c.3546C>T (p.Asn1182=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 3048797	NM_001408.3(CELSR2):c.3627A>G (p.Leu1209=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 2037502	NM_001408.3(CELSR2):c.4736A>T (p.Asp1579Val)	CELSR2 (D1579V)	Single nucleotide variant (missense variant)	CELSR2-related disorder +1 more	GLikely benign
Select item 1569102	NM_001408.3(CELSR2):c.4915T>C (p.Tyr1639His)	CELSR2 (Y1639H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1553618	NM_001408.3(CELSR2):c.5136C>T (p.Pro1712=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GBenign
Select item 3054507	NM_001408.3(CELSR2):c.5248C>T (p.Pro1750Ser)	CELSR2 (P1750S)	Single nucleotide variant (missense variant)	CELSR2-related disorder	GLikely benign
Select item 1624699	NM_001408.3(CELSR2):c.5313G>A (p.Pro1771=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GBenign
Select item 732910	NM_001408.3(CELSR2):c.5400C>T (p.Asn1800=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GBenign
Select item 1448316	NM_001408.3(CELSR2):c.5403G>A (p.Pro1801=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3040958	NM_001408.3(CELSR2):c.5508G>A (p.Pro1836=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 2164862	NM_001408.3(CELSR2):c.5709C>T (p.Ser1903=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 714933	NM_001408.3(CELSR2):c.5794T>G (p.Leu1932Val)	CELSR2 (L1932V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3057950	NM_001408.3(CELSR2):c.5973C>T (p.Phe1991=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 2060174	NM_001408.3(CELSR2):c.5974G>A (p.Gly1992Arg)	CELSR2 (G1992R)	Single nucleotide variant (missense variant)	CELSR2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3037849	NM_001408.3(CELSR2):c.6044G>A (p.Arg2015Lys)	CELSR2 (R2015K)	Single nucleotide variant (missense variant)	CELSR2-related disorder	GBenign
Select item 3037800	NM_001408.3(CELSR2):c.6045G>A (p.Arg2015=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GBenign
Select item 3035940	NM_001408.3(CELSR2):c.6159G>A (p.Gln2053=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 2198331	NM_001408.3(CELSR2):c.6555C>T (p.Pro2185=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3054241	NM_001408.3(CELSR2):c.6572G>A (p.Arg2191His)	CELSR2 (R2191H)	Single nucleotide variant (missense variant)	CELSR2-related disorder	GLikely benign
Select item 2146576	NM_001408.3(CELSR2):c.6588G>A (p.Pro2196=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2638974	NM_001408.3(CELSR2):c.6642C>T (p.Pro2214=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GLikely benign
Select item 732911	NM_001408.3(CELSR2):c.6663C>T (p.Pro2221=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GBenign
Select item 3041783	NM_001408.3(CELSR2):c.6750C>A (p.Ile2250=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 397652	NM_001408.3(CELSR2):c.6859G>A (p.Val2287Ile)	CELSR2 (V2287I)	Single nucleotide variant (missense variant)	CELSR2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 732912	NM_001408.3(CELSR2):c.6903C>T (p.Pro2301=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GBenign
Select item 3037818	NM_001408.3(CELSR2):c.6986G>A (p.Ser2329Asn)	CELSR2 (S2329N)	Single nucleotide variant (missense variant)	CELSR2-related disorder	GBenign
Select item 2714126	NM_001408.3(CELSR2):c.7464C>T (p.Gly2488=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GLikely benign
Select item 3051599	NM_001408.3(CELSR2):c.7515C>T (p.Tyr2505=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 3048721	NM_001408.3(CELSR2):c.7698C>T (p.Phe2566=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 3057345	NM_001408.3(CELSR2):c.7737A>G (p.Ala2579=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 3041836	NM_001408.3(CELSR2):c.7788C>T (p.Thr2596=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 1666220	NM_001408.3(CELSR2):c.7876C>T (p.Arg2626Cys)	CELSR2 (R2626C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 745734	NM_001408.3(CELSR2):c.7977C>T (p.Tyr2659=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder +1 more	GLikely benign
Select item 718266	NM_001408.3(CELSR2):c.8054+9C>T	CELSR2	Single nucleotide variant (intron variant)	CELSR2-related disorder +1 more	GBenign
Select item 3037858	NM_001408.3(CELSR2):c.8054+10G>A	CELSR2	Single nucleotide variant (intron variant)	CELSR2-related disorder	GLikely benign
Select item 1530644	NM_001408.3(CELSR2):c.8055-10A>G	CELSR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3038188	NM_001408.3(CELSR2):c.8217A>C (p.Ser2739=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 2060366	NM_001408.3(CELSR2):c.8276A>G (p.Gln2759Arg)	CELSR2 (Q2759R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 740238	NM_001408.3(CELSR2):c.8413G>A (p.Gly2805Arg)	CELSR2 (G2805R)	Single nucleotide variant (missense variant)	CELSR2-related disorder +1 more	GBenign
Select item 1649663	NM_001408.3(CELSR2):c.8434C>T (p.Arg2812Trp)	CELSR2 (R2812W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 777930	NM_001408.3(CELSR2):c.8478C>T (p.Pro2826=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3043536	NM_001408.3(CELSR2):c.8571C>G (p.Pro2857=)	CELSR2	Single nucleotide variant (synonymous variant)	CELSR2-related disorder	GLikely benign
Select item 744025	NM_001408.3(CELSR2):c.8646A>G (p.Pro2882=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 58