"NT5E-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048888	NM_002526.4(NT5E):c.18G>C (p.Ala6=)	NT5E	Single nucleotide variant (synonymous variant)	NT5E-related disorder	GLikely benign
Select item 727283	NM_002526.4(NT5E):c.76G>T (p.Ala26Ser)	NT5E (A26S)	Single nucleotide variant (missense variant)	NT5E-related disorder +1 more	GLikely benign
Select item 760697	NM_002526.4(NT5E):c.457C>G (p.Gln153Glu)	NT5E (Q153E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 782948	NM_002526.4(NT5E):c.832G>A (p.Val278Ile)	NT5E (V278I)	Single nucleotide variant (missense variant)	NT5E-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3047447	NM_002526.4(NT5E):c.840C>A (p.Ala280=)	NT5E	Single nucleotide variant (synonymous variant)	NT5E-related disorder	GLikely benign
Select item 738423	NM_002526.4(NT5E):c.1207A>C (p.Asn403His)	NT5E (N403H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2629968	NM_002526.4(NT5E):c.1264G>T (p.Asp422Tyr)	NT5E (D422Y)	Single nucleotide variant (missense variant +1 more)	NT5E-related disorder	GUncertain significance
Select item 3045532	NM_002526.4(NT5E):c.1278A>G (p.Leu426=)	NT5E	Single nucleotide variant (synonymous variant +1 more)	NT5E-related disorder	GLikely benign
Select item 2633543	NM_002526.4(NT5E):c.1428C>A (p.Cys476Ter)	NT5E (C426* +1 more)	Single nucleotide variant (nonsense)	NT5E-related disorder	GLikely pathogenic
Select item 3049545	NM_002526.4(NT5E):c.1446C>T (p.Pro482=)	NT5E	Single nucleotide variant (synonymous variant)	NT5E-related disorder	GLikely benign
Select item 3054378	NM_002526.4(NT5E):c.1503G>A (p.Leu501=)	NT5E	Single nucleotide variant (synonymous variant)	NT5E-related disorder	GLikely benign
Select item 29689	NM_002526.4(NT5E):c.1608dup (p.Val537fs)	NT5E (V537fs +1 more)	Duplication (frameshift variant)	Hereditary arterial and articular multiple calcification syndrome +1 more	GLikely pathogenic