ClinVar for MedGen (Select 327093) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584650	NM_001128431.4(SLC39A14):c.134A>G (p.Gln45Arg)	SLC39A14 (Q45R +1 more)	Single nucleotide variant (missense variant)	Hyperostosis cranialis interna	GUncertain significance
Select item 2412790	NM_001128431.4(SLC39A14):c.1301G>A (p.Gly434Glu)	SLC39A14 (G434E +1 more)	Single nucleotide variant (missense variant)	Hyperostosis cranialis interna	GUncertain significance
Select item 1627844	NM_001128431.4(SLC39A14):c.939+8G>C	SLC39A14	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1286943	NM_001128431.4(SLC39A14):c.1333-25G>A	SLC39A14	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1286124	NM_001128431.4(SLC39A14):c.98T>C (p.Leu33Pro)	SLC39A14 (L33P +1 more)	Single nucleotide variant (missense variant)	Hypermanganesemia with dystonia 2 +2 more	GBenign
Select item 1241953	NM_001128431.4(SLC39A14):c.195A>G (p.Leu65=)	SLC39A14	Single nucleotide variant (synonymous variant)	Hyperostosis cranialis interna +2 more	GBenign
Select item 1230736	NM_001128431.4(SLC39A14):c.457+45G>T	SLC39A14	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 523143	NM_001128431.4(SLC39A14):c.1322T>G (p.Leu441Arg)	SLC39A14 (L441R +1 more)	Single nucleotide variant (missense variant)	Hyperostosis cranialis interna	GPathogenic

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