CELSR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 2464022	NM_001408.3(CELSR2):c.4C>T (p.Arg2Trp)	CELSR2 (R2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2060173	NM_001408.3(CELSR2):c.35CGC[7] (p.Pro16_Leu17insProPro)	CELSR2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 767684	NM_001408.3(CELSR2):c.35CGC[6] (p.Pro16dup)	CELSR2	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1662312	NM_001408.3(CELSR2):c.50T>C (p.Leu17Pro)	CELSR2 (L17P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2321214	NM_001408.3(CELSR2):c.71T>A (p.Leu24Gln)	CELSR2 (L24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2896925	NM_001408.3(CELSR2):c.75G>A (p.Leu25=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108573	NM_001408.3(CELSR2):c.83C>T (p.Pro28Leu)	CELSR2 (P28L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2527390	NM_001408.3(CELSR2):c.100G>A (p.Val34Met)	CELSR2 (V34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265777	NM_001408.3(CELSR2):c.106C>A (p.Pro36Thr)	CELSR2 (P36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1562132	NM_001408.3(CELSR2):c.108C>T (p.Pro36=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540397	NM_001408.3(CELSR2):c.125C>A (p.Ser42Tyr)	CELSR2 (S42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216339	NM_001408.3(CELSR2):c.164G>T (p.Gly55Val)	CELSR2 (G55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265795	NM_001408.3(CELSR2):c.187T>C (p.Ser63Pro)	CELSR2 (S63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570478	NM_001408.3(CELSR2):c.199C>T (p.Leu67Phe)	CELSR2 (L67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265792	NM_001408.3(CELSR2):c.214T>C (p.Cys72Arg)	CELSR2 (C72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791805	NM_001408.3(CELSR2):c.272G>A (p.Arg91Lys)	CELSR2 (R91K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3265784	NM_001408.3(CELSR2):c.292G>A (p.Glu98Lys)	CELSR2 (E98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774396	NM_001408.3(CELSR2):c.333C>T (p.Pro111=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782975	NM_001408.3(CELSR2):c.376C>A (p.Gln126Lys)	CELSR2 (Q126K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2234455	NM_001408.3(CELSR2):c.395C>T (p.Pro132Leu)	CELSR2 (P132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781778	NM_001408.3(CELSR2):c.427C>T (p.Leu143Phe)	CELSR2 (L143F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2715669	NM_001408.3(CELSR2):c.462C>T (p.Pro154=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361646	NM_001408.3(CELSR2):c.475G>A (p.Gly159Arg)	CELSR2 (G159R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 503988	NM_001408.3(CELSR2):c.478_482delinsAAAA (p.Glu160fs)	CELSR2 (E160fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 767685	NM_001408.3(CELSR2):c.481A>C (p.Arg161=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2609010	NM_001408.3(CELSR2):c.490G>C (p.Glu164Gln)	CELSR2 (E164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623968	NM_001408.3(CELSR2):c.499C>G (p.Leu167Val)	CELSR2 (L167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2851021	NM_001408.3(CELSR2):c.534C>T (p.Ala178=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2408977	NM_001408.3(CELSR2):c.572C>T (p.Pro191Leu)	CELSR2 (P191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142054	NM_001408.3(CELSR2):c.587C>G (p.Ala196Gly)	CELSR2 (A196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719455	NM_001408.3(CELSR2):c.618C>T (p.Ile206=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732400	NM_001408.3(CELSR2):c.732C>T (p.Ala244=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2311289	NM_001408.3(CELSR2):c.745C>T (p.Arg249Cys)	CELSR2 (R249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224091	NM_001408.3(CELSR2):c.752C>T (p.Thr251Ile)	CELSR2 (T251I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142069	NM_001408.3(CELSR2):c.779C>T (p.Thr260Met)	CELSR2 (T260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2077924	NM_001408.3(CELSR2):c.798G>C (p.Met266Ile)	CELSR2 (M266I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616806	NM_001408.3(CELSR2):c.799C>G (p.Pro267Ala)	CELSR2 (P267A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384060	NM_001408.3(CELSR2):c.839C>T (p.Thr280Ile)	CELSR2 (T280I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1401631	NM_001408.3(CELSR2):c.875A>G (p.Gln292Arg)	CELSR2 (Q292R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723963	NM_001408.3(CELSR2):c.903C>T (p.Asn301=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2276557	NM_001408.3(CELSR2):c.937G>T (p.Ala313Ser)	CELSR2 (A313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615248	NM_001408.3(CELSR2):c.1009T>C (p.Ser337Pro)	CELSR2 (S337P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615249	NM_001408.3(CELSR2):c.1010C>A (p.Ser337Tyr)	CELSR2 (S337Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265779	NM_001408.3(CELSR2):c.1027G>A (p.Asp343Asn)	CELSR2 (D343N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590131	NM_001408.3(CELSR2):c.1033C>T (p.Arg345Cys)	CELSR2 (R345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265802	NM_001408.3(CELSR2):c.1046T>A (p.Ile349Asn)	CELSR2 (I349N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1915317	NM_001408.3(CELSR2):c.1070G>A (p.Arg357Gln)	CELSR2 (R357Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2336625	NM_001408.3(CELSR2):c.1108A>G (p.Ser370Gly)	CELSR2 (S370G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227423	NM_001408.3(CELSR2):c.1121G>A (p.Arg374Gln)	CELSR2 (R374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795154	NM_001408.3(CELSR2):c.1137G>C (p.Arg379=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778235	NM_001408.3(CELSR2):c.1150G>T (p.Ala384Ser)	CELSR2 (A384S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2844877	NM_001408.3(CELSR2):c.1193A>G (p.Gln398Arg)	CELSR2 (Q398R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3265793	NM_001408.3(CELSR2):c.1199G>C (p.Ser400Thr)	CELSR2 (S400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265773	NM_001408.3(CELSR2):c.1207C>T (p.Arg403Cys)	CELSR2 (R403C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542229	NM_001408.3(CELSR2):c.1259G>A (p.Arg420Gln)	CELSR2 (R420Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344459	NM_001408.3(CELSR2):c.1276C>T (p.Arg426Ter)	CELSR2 (R426*)	Single nucleotide variant (nonsense)	CELSR2-related disorder	GUncertain significance
Select item 2730128	NM_001408.3(CELSR2):c.1297G>A (p.Val433Met)	CELSR2 (V433M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3142022	NM_001408.3(CELSR2):c.1307A>G (p.Tyr436Cys)	CELSR2 (Y436C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142023	NM_001408.3(CELSR2):c.1330C>T (p.Arg444Trp)	CELSR2 (R444W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1911764	NM_001408.3(CELSR2):c.1417C>T (p.Arg473Trp)	CELSR2 (R473W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641357	NM_001408.3(CELSR2):c.1422G>C (p.Val474=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3265771	NM_001408.3(CELSR2):c.1471G>A (p.Val491Met)	CELSR2 (V491M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2168691	NM_001408.3(CELSR2):c.1516G>A (p.Val506Ile)	CELSR2 (V506I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2457429	NM_001408.3(CELSR2):c.1520G>C (p.Ser507Thr)	CELSR2 (S507T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1933313	NM_001408.3(CELSR2):c.1543C>T (p.Leu515=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608258	NM_001408.3(CELSR2):c.1551T>C (p.Ser517=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2330826	NM_001408.3(CELSR2):c.1553T>A (p.Val518Asp)	CELSR2 (V518D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2162805	NM_001408.3(CELSR2):c.1575C>T (p.Leu525=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1915442	NM_001408.3(CELSR2):c.1588A>G (p.Ile530Val)	CELSR2 (I530V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732582	NM_001408.3(CELSR2):c.1610A>G (p.Asn537Ser)	CELSR2 (N537S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1656268	NM_001408.3(CELSR2):c.1615C>T (p.Arg539Cys)	CELSR2 (R539C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1602486	NM_001408.3(CELSR2):c.1620G>A (p.Leu540=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3142024	NM_001408.3(CELSR2):c.1630C>T (p.Leu544Phe)	CELSR2 (L544F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214997	NM_001408.3(CELSR2):c.1651T>C (p.Phe551Leu)	CELSR2 (F551L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231194	NM_001408.3(CELSR2):c.1683G>C (p.Trp561Cys)	CELSR2 (W561C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1588054	NM_001408.3(CELSR2):c.1736G>C (p.Gly579Ala)	CELSR2 (G579A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735873	NM_001408.3(CELSR2):c.1754A>G (p.His585Arg)	CELSR2 (H585R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3142025	NM_001408.3(CELSR2):c.1778C>T (p.Ser593Leu)	CELSR2 (S593L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1909798	NM_001408.3(CELSR2):c.1796C>G (p.Thr599Ser)	CELSR2 (T599S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112712	NM_001408.3(CELSR2):c.1812C>T (p.Asn604=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1407810	NM_001408.3(CELSR2):c.1813G>A (p.Asp605Asn)	CELSR2 (D605N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2591901	NM_001408.3(CELSR2):c.1841A>G (p.Glu614Gly)	CELSR2 (E614G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734037	NM_001408.3(CELSR2):c.1892C>T (p.Thr631Met)	CELSR2 (T631M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 806181	NM_001408.3(CELSR2):c.1941C>G (p.Ile647Met)	CELSR2 (I647M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286331	NM_001408.3(CELSR2):c.1945A>C (p.Ser649Arg)	CELSR2 (S649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543823	NM_001408.3(CELSR2):c.1963C>T (p.Arg655Cys)	CELSR2 (R655C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1911630	NM_001408.3(CELSR2):c.1976C>T (p.Thr659Ile)	CELSR2 (T659I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3142026	NM_001408.3(CELSR2):c.1999G>A (p.Val667Ile)	CELSR2 (V667I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732454	NM_001408.3(CELSR2):c.2001A>G (p.Val667=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142027	NM_001408.3(CELSR2):c.2030T>G (p.Leu677Arg)	CELSR2 (L677R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2072906	NM_001408.3(CELSR2):c.2070C>T (p.Gly690=)	CELSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608398	NM_001408.3(CELSR2):c.2083A>G (p.Thr695Ala)	CELSR2 (T695A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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