"B3GLCT-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434473	NM_194318.4(B3GLCT):c.71-9T>C	B3GLCT	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 742031	NM_194318.4(B3GLCT):c.315A>G (p.Glu105=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome +1 more	GBenign/Likely benign
Select item 1264	NM_194318.4(B3GLCT):c.660+1G>A	B3GLCT	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 166717	NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe)	B3GLCT (Y301F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3054818	NM_194318.4(B3GLCT):c.1053T>C (p.Asp351=)	B3GLCT	Single nucleotide variant (synonymous variant)	B3GLCT-related condition	GLikely benign
Select item 283910	NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=)	B3GLCT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 281154	NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome +3 more	GBenign/Likely benign
Select item 1335808	NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter)	B3GLCT (Y380*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 718526	NM_194318.4(B3GLCT):c.1144C>T (p.Leu382=)	B3GLCT	Single nucleotide variant (synonymous variant)	B3GLCT-related condition +1 more	GLikely benign
Select item 706018	NM_194318.4(B3GLCT):c.1185-6C>G	B3GLCT	Single nucleotide variant (intron variant)	B3GLCT-related condition +2 more	GBenign/Likely benign
Select item 425025	NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile)	B3GLCT (V403I)	Single nucleotide variant (missense variant)	B3GLCT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 594795	NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=)	B3GLCT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2636093	NM_194318.4(B3GLCT):c.1390A>C (p.Lys464Gln)	B3GLCT (K464Q)	Single nucleotide variant (missense variant)	B3GLCT-related condition	GUncertain significance