"GCNT2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1182271	NM_145649.5(GCNT2):c.305C>G (p.Thr102Ser)	GCNT2 (T102S)	Single nucleotide variant (missense variant)	GCNT2-related disorder +1 more	GBenign/Likely benign
Select item 3052002	NM_145649.5(GCNT2):c.729C>T (p.Tyr243=)	GCNT2	Single nucleotide variant (synonymous variant)	GCNT2-related disorder	GLikely benign
Select item 3052839	NM_145649.5(GCNT2):c.820G>A (p.Ala274Thr)	GCNT2 (A274T)	Single nucleotide variant (missense variant)	GCNT2-related disorder	GBenign
Select item 3032228	NM_145649.5(GCNT2):c.846C>T (p.Leu282=)	GCNT2	Single nucleotide variant (synonymous variant)	GCNT2-related disorder	GLikely benign
Select item 3038653	NM_145649.5(GCNT2):c.861C>G (p.Leu287=)	GCNT2	Single nucleotide variant (synonymous variant)	GCNT2-related disorder	GLikely benign
Select item 3033987	NM_145649.5(GCNT2):c.892G>A (p.Glu298Lys)	GCNT2 (E298K)	Single nucleotide variant (missense variant)	GCNT2-related disorder	GLikely benign
Select item 354701	NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg)	GCNT2 (P85R)	Single nucleotide variant (missense variant +1 more)	Blood group, I system +2 more	GConflicting classifications of pathogenicity
Select item 354706	NM_001491.3(GCNT2):c.630T>G (p.Gly210=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Blood group, I system +2 more	GBenign/Likely benign
Select item 2636617	NM_145649.5(GCNT2):c.926-35040G>A	GCNT2 (D108N)	Single nucleotide variant (missense variant +1 more)	GCNT2-related disorder	GUncertain significance
Select item 3051237	NM_145649.5(GCNT2):c.926-34540C>T	GCNT2	Single nucleotide variant (synonymous variant +1 more)	GCNT2-related disorder	GLikely benign