"PreventionGenetics, part of Exact Sciences"[submitter] AND "B3GALNT2" - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296313	NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln)	B3GALNT2, TBCE (R526Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +3 more	GConflicting classifications of pathogenicity
Select item 839795	NM_152490.5(B3GALNT2):c.1311+1G>C	B3GALNT2	Single nucleotide variant (splice donor variant)	B3GALNT2-related disorder +1 more	GLikely pathogenic
Select item 388011	NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +3 more	GLikely benign
Select item 540918	NM_152490.5(B3GALNT2):c.842-4A>G	B3GALNT2	Single nucleotide variant (intron variant)	B3GALNT2-related disorder +1 more	GLikely benign
Select item 1574976	NM_152490.5(B3GALNT2):c.537T>C (p.Leu179=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GLikely benign
Select item 473885	NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys)	B3GALNT2 (E133K +1 more)	Single nucleotide variant (missense variant)	B3GALNT2-related disorder +2 more	GBenign/Likely benign
Select item 262651	NM_152490.5(B3GALNT2):c.321= (p.Glu107=)	B3GALNT2	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign
Select item 262650	NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=)	B3GALNT2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1577856	NM_152490.5(B3GALNT2):c.204C>T (p.Asn68=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GLikely benign
Select item 262649	NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys)	B3GALNT2 (Y51C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3041448	NM_152490.5(B3GALNT2):c.113-1405G>A	B3GALNT2 (G63D)	Single nucleotide variant (missense variant +1 more)	B3GALNT2-related disorder	GBenign
Select item 385271	NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=)	B3GALNT2	Single nucleotide variant (synonymous variant)	B3GALNT2-related disorder +3 more	GLikely benign
Select item 262648	NM_152490.5(B3GALNT2):c.-20G>C	B3GALNT2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign