C0432194[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440280	NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)	SLC35D1 (A272T)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 1330504	NM_015139.3(SLC35D1):c.687G>T (p.Leu229=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 811263	NM_015139.3(SLC35D1):c.660C>G (p.Leu220=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1606802	NM_015139.3(SLC35D1):c.393-5dup	SLC35D1	Duplication (intron variant)	Schneckenbecken dysplasia	GBenign/Likely benign
Select item 642827	NM_015139.3(SLC35D1):c.301C>T (p.Leu101Phe)	SLC35D1 (L101F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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