"SLC39A5-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701202	NM_173596.3(SLC39A5):c.144C>T (p.Gly48=)	SLC39A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3039043	NM_173596.3(SLC39A5):c.287+4C>T	SLC39A5	Single nucleotide variant (intron variant)	SLC39A5-related disorder	GLikely benign
Select item 3034033	NM_173596.3(SLC39A5):c.558A>C (p.Pro186=)	SLC39A5	Single nucleotide variant (synonymous variant)	SLC39A5-related disorder	GBenign
Select item 3043985	NM_173596.3(SLC39A5):c.597C>T (p.Gly199=)	SLC39A5	Single nucleotide variant (synonymous variant)	SLC39A5-related disorder	GLikely benign
Select item 776720	NM_173596.3(SLC39A5):c.728G>A (p.Arg243Gln)	SLC39A5 (R243Q)	Single nucleotide variant (missense variant)	SLC39A5-related disorder +1 more	GBenign
Select item 1333139	NM_173596.3(SLC39A5):c.1121G>C (p.Ser374Thr)	SLC39A5 (S374T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 3049788	NM_173596.3(SLC39A5):c.1281C>T (p.His427=)	SLC39A5	Single nucleotide variant (synonymous variant)	SLC39A5-related disorder	GLikely benign
Select item 2643089	NM_173596.3(SLC39A5):c.1367G>C (p.Gly456Ala)	SLC39A5 (G456A)	Single nucleotide variant (missense variant)	SLC39A5-related disorder +1 more	GBenign/Likely benign
Select item 3038205	NM_173596.3(SLC39A5):c.1605C>T (p.Pro535=)	SLC39A5	Single nucleotide variant (synonymous variant)	SLC39A5-related disorder	GLikely benign

ClinVar