"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CRYBB3" - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 703368	NM_004076.5(CRYBB3):c.6G>A (p.Ala2=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types +1 more	GBenign/Likely benign
Select item 340949	NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly)	CRYBB3 (A13G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1533803	NM_004076.5(CRYBB3):c.51T>C (p.His17=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GLikely benign
Select item 2910559	NM_004076.5(CRYBB3):c.75+7G>C	CRYBB3	Single nucleotide variant (intron variant)	Cataract 22 multiple types	GLikely benign
Select item 1639465	NM_004076.5(CRYBB3):c.75+18G>A	CRYBB3	Single nucleotide variant (intron variant)	Cataract 22 multiple types	GLikely benign
Select item 1955730	NM_004076.5(CRYBB3):c.96G>T (p.Glu32Asp)	CRYBB3 (E32D)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 3006153	NM_004076.5(CRYBB3):c.99C>T (p.Asn33=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GBenign
Select item 902426	NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu)	CRYBB3 (S42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1381388	NM_004076.5(CRYBB3):c.157C>A (p.Leu53Met)	CRYBB3 (L53M)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 2893328	NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)	CRYBB3	Insertion (inframe_insertion)	Cataract 22 multiple types	GUncertain significance
Select item 340952	NM_004076.5(CRYBB3):c.213C>T (p.Ser71=)	CRYBB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903286	NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu)	CRYBB3 (R75L)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +2 more	GUncertain significance
Select item 902429	NM_004076.5(CRYBB3):c.224G>A (p.Arg75His)	CRYBB3 (R75H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 903287	NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile)	CRYBB3 (F79I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1003766	NM_004076.5(CRYBB3):c.263G>A (p.Arg88His)	CRYBB3 (R88H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 2819792	NM_004076.5(CRYBB3):c.287G>A (p.Arg96His)	CRYBB3 (R96H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 259228	NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln)	CRYBB3 (R105Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 631888	NM_004076.5(CRYBB3):c.327+1G>T	CRYBB3	Single nucleotide variant (splice donor variant)	Cataract 22 multiple types	GConflicting classifications of pathogenicity
Select item 1595230	NM_004076.5(CRYBB3):c.327+13C>T	CRYBB3	Single nucleotide variant (intron variant)	Cataract 22 multiple types	GLikely benign
Select item 259229	NM_004076.5(CRYBB3):c.337C>G (p.His113Asp)	CRYBB3 (H113D)	Single nucleotide variant (missense variant)	Congenital nuclear cataract +3 more	GBenign
Select item 658617	NM_004076.5(CRYBB3):c.380G>A (p.Arg127His)	CRYBB3 (R127H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GUncertain significance
Select item 2009486	NM_004076.5(CRYBB3):c.392T>G (p.Ile131Arg)	CRYBB3 (I131R)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GLikely pathogenic
Select item 534700	NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)	CRYBB3 (G156R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259230	NM_004076.5(CRYBB3):c.471-6C>T	CRYBB3	Single nucleotide variant (intron variant)	Congenital nuclear cataract +3 more	GBenign/Likely benign
Select item 653862	NM_004076.5(CRYBB3):c.471-5G>A	CRYBB3	Single nucleotide variant (intron variant)	Cataract 22 multiple types	GUncertain significance
Select item 466359	NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile)	CRYBB3 (V159I)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GBenign/Likely benign
Select item 466360	NM_004076.5(CRYBB3):c.492C>A (p.Pro164=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GLikely benign
Select item 1000861	NM_004076.5(CRYBB3):c.503G>A (p.Gly168Glu)	CRYBB3 (G168E)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 2793400	NM_004076.5(CRYBB3):c.528C>A (p.Gly176=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GLikely benign
Select item 900831	NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp)	CRYBB3 (E177D)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 900832	NM_004076.5(CRYBB3):c.536G>A (p.Arg179His)	CRYBB3 (R179H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GUncertain significance
Select item 466361	NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter)	CRYBB3 (E183*)	Single nucleotide variant (nonsense)	CRYBB3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 340956	NM_004076.5(CRYBB3):c.567G>A (p.Pro189=)	CRYBB3	Single nucleotide variant (synonymous variant)	Congenital nuclear cataract +2 more	GBenign/Likely benign
Select item 340957	NM_004076.5(CRYBB3):c.584G>A (p.Arg195His)	CRYBB3 (R195H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GConflicting classifications of pathogenicity
Select item 340958	NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn)	CRYBB3 (K201N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2425017	NC_000022.10:g.(?_25601167)_(25601349_?)dup	CRYBB3	Duplication	Cataract 22 multiple types	GUncertain significance
Select item 1439201	NC_000022.10:g.(?_25597364)_(26272319_?)dup	CRYBB2, CRYBB3 +2 more	Duplication	not provided	GUncertain significance

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Items: 37