"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC39A13" - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2203510	NM_001128225.3(SLC39A13):c.129G>A (p.Ala43=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GLikely benign
Select item 513107	NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +2 more	GBenign/Likely benign
Select item 196579	NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)	SLC39A13 (T133M)	Single nucleotide variant (missense variant +1 more)	Myopia +10 more	GConflicting classifications of pathogenicity
Select item 706249	NM_001128225.3(SLC39A13):c.406G>A (p.Ala136Thr)	SLC39A13 (A136T)	Single nucleotide variant (missense variant +1 more)	SLC39A13-related disorder +1 more	GLikely benign
Select item 287155	NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu)	SLC39A13 (Q147E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 537268	NM_001128225.3(SLC39A13):c.492G>T (p.Ala164=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	SLC39A13-related disorder +2 more	GLikely benign
Select item 197874	NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly)	SLC39A13 (A180G)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2081789	NM_001128225.3(SLC39A13):c.786+7G>A	SLC39A13	Single nucleotide variant (intron variant)	SLC39A13-related disorder +1 more	GLikely benign
Select item 508857	NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +3 more	GConflicting classifications of pathogenicity
Select item 752116	NM_001128225.3(SLC39A13):c.993C>T (p.Ile331=)	SLC39A13 (S323L)	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GConflicting classifications of pathogenicity
Select item 383728	NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu)	SLC39A13 (P339L +1 more)	Single nucleotide variant (missense variant +2 more)	SLC39A13-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 726453	NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=)	SLC39A13	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 537269	NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=)	SLC39A13	Single nucleotide variant (synonymous variant +2 more)	SLC39A13-related disorder +3 more	GBenign/Likely benign
Select item 1581008	NM_001128225.3(SLC39A13):c.1101G>A (p.Ser367=)	SLC39A13	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GLikely benign