"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CELSR3" - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 783378	NM_001407.3(CELSR3):c.9904G>C (p.Asp3302His)	CELSR3 (D3302H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729309	NM_001407.3(CELSR3):c.9875C>T (p.Thr3292Met)	CELSR3 (T3292M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770700	NM_001407.3(CELSR3):c.9827C>T (p.Pro3276Leu)	CELSR3 (P3276L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783379	NM_001407.3(CELSR3):c.9602G>A (p.Arg3201Gln)	CELSR3 (R3201Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 748012	NM_001407.3(CELSR3):c.9252A>G (p.Arg3084=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753908	NM_001407.3(CELSR3):c.9159C>T (p.Gly3053=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783380	NM_001407.3(CELSR3):c.8472C>T (p.Gly2824=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775867	NM_001407.3(CELSR3):c.7954G>A (p.Val2652Ile)	CELSR3 (V2652I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 40229	NM_001407.3(CELSR3):c.7890G>A (p.Met2630Ile)	CELSR3 (M2630I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713901	NM_001407.3(CELSR3):c.7351G>A (p.Gly2451Arg)	CELSR3 (G2451R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 764047	NM_001407.3(CELSR3):c.5967C>G (p.Pro1989=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774601	NM_001407.3(CELSR3):c.4059G>A (p.Gln1353=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 746011	NM_001407.3(CELSR3):c.3405C>T (p.Arg1135=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799425	NM_001407.3(CELSR3):c.2997T>C (p.Thr999=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787790	NM_001407.3(CELSR3):c.2658C>T (p.Asp886=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715568	NM_001407.3(CELSR3):c.2580T>G (p.Ser860Arg)	CELSR3 (S860R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767908	NM_001407.3(CELSR3):c.383G>T (p.Gly128Val)	CELSR3 (G128V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	ARIH2, ARIH2OS +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic

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Items: 20