C4551624[trait identifier] AND "Genome Diagnostics Laboratory, Amsterd - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284842	NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)	SLC20A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 363072	NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)	SLC20A2 (A480T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 363074	NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 363077	NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign
Select item 363078	NM_001257180.2(SLC20A2):c.1008C>T (p.His336=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign/Likely benign
Select item 363079	NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign/Likely benign
Select item 363080	NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)	SLC20A2 (G304S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 363081	NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1209907	NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln)	SLC20A2 (R181Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 363090	NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 363094	NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 286393	NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)	SLC20A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign