Related gene-specific medical variations for Gene (Select 1952) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265801	NM_001408.3(CELSR2):c.3227A>G (p.Asn1076Ser)	CELSR2, LOC110121283 (N1076S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265786	NM_001408.3(CELSR2):c.3155A>G (p.His1052Arg)	CELSR2, LOC110121283 (H1052R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142035	NM_001408.3(CELSR2):c.3110G>A (p.Arg1037His)	CELSR2, LOC110121283 (R1037H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142034	NM_001408.3(CELSR2):c.3031G>A (p.Val1011Ile)	CELSR2, LOC110121283 (V1011I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142033	NM_001408.3(CELSR2):c.3022A>G (p.Thr1008Ala)	CELSR2, LOC110121283 (T1008A)	Single nucleotide variant (missense variant)	not specified	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 3014978	NM_001408.3(CELSR2):c.3196C>T (p.Arg1066Trp)	CELSR2, LOC110121283 (R1066W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970510	NM_001408.3(CELSR2):c.3129G>A (p.Gly1043=)	CELSR2, LOC110121283	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638969	NM_001408.3(CELSR2):c.3192T>C (p.Phe1064=)	CELSR2, LOC110121283	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570413	NM_001408.3(CELSR2):c.3274C>T (p.Arg1092Trp)	CELSR2, LOC110121283 (R1092W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521547	NM_001408.3(CELSR2):c.2966G>A (p.Arg989Gln)	CELSR2, LOC110121283 (R989Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2420498	NM_001408.3(CELSR2):c.3298G>A (p.Val1100Met)	CELSR2, LOC110121283 (V1100M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2267144	NM_001408.3(CELSR2):c.3160C>T (p.Pro1054Ser)	CELSR2, LOC110121283 (P1054S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258196	NM_001408.3(CELSR2):c.3047G>T (p.Arg1016Leu)	CELSR2, LOC110121283 (R1016L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2078023	NM_001408.3(CELSR2):c.2996C>T (p.Thr999Met)	CELSR2, LOC110121283 (T999M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1583590	NM_001408.3(CELSR2):c.3007C>T (p.Leu1003=)	CELSR2, LOC110121283	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541536	NM_001408.3(CELSR2):c.3297C>T (p.Ser1099=)	CELSR2, LOC110121283	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777929	NM_001408.3(CELSR2):c.3197G>A (p.Arg1066Gln)	CELSR2, LOC110121283 (R1066Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774583	NM_001408.3(CELSR2):c.3041T>A (p.Leu1014His)	CELSR2, LOC110121283 (L1014H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711286	NM_001408.3(CELSR2):c.3273C>T (p.Asn1091=)	CELSR2, LOC110121283	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 7081	NC_000001.11:g.109274968G>T	CELSR2, LOC110121285 +1 more	Single nucleotide variant (3 prime UTR variant)	Low density lipoprotein cholesterol level quantitative trait locus 6	Gassociation

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Links from Gene

Items: 21