ClinVar for MedGen (Select 934732) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4278009	NM_002905.5(RDH5):c.487A>G (p.Ser163Gly)	BLOC1S1-RDH5, RDH5 (S163G)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypermanganesemia with dystonia 2	GUncertain significance
Select item 4086055	NM_001128431.4(SLC39A14):c.152A>G (p.Tyr51Cys)	SLC39A14 (Y51C +1 more)	Single nucleotide variant (missense variant)	Hypermanganesemia with dystonia 2	GLikely pathogenic
Select item 3780945	NM_001128431.4(SLC39A14):c.-16+12107G>A	SLC39A14	Single nucleotide variant (intron variant +1 more)	Hypermanganesemia with dystonia 2	GUncertain significance
Select item 3775321	NM_015359.6(SLC39A14):c.520dup (p.Val174fs)	SLC39A14 (V174fs)	Duplication (frameshift variant +1 more)	Hypermanganesemia with dystonia 2	GPathogenic
Select item 2506025	NM_001128431.4(SLC39A14):c.628-2A>G	SLC39A14	Single nucleotide variant (splice acceptor variant)	Hypermanganesemia with dystonia 2	GLikely pathogenic
Select item 1627844	NM_001128431.4(SLC39A14):c.939+8G>C	SLC39A14	Single nucleotide variant (intron variant)	Hypermanganesemia with dystonia 2 +3 more	GBenign/Likely benign
Select item 1334419	NM_001128431.4(SLC39A14):c.1336C>T (p.Pro446Ser)	SLC39A14 (P446S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypermanganesemia with dystonia 2	GPathogenic
Select item 1286943	NM_001128431.4(SLC39A14):c.1333-25G>A	SLC39A14	Single nucleotide variant (intron variant)	not specified +3 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 +3 more	GBenign
Select item 1241953	NM_001128431.4(SLC39A14):c.195A>G (p.Leu65=)	SLC39A14	Single nucleotide variant (synonymous variant)	Hyperostosis cranialis interna +3 more	GBenign
Select item 1230736	NM_001128431.4(SLC39A14):c.457+45G>T	SLC39A14	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 985470	NM_001128431.4(SLC39A14):c.382C>T (p.Arg128Trp)	SLC39A14 (R128W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 452630	NM_001128431.4(SLC39A14):c.1066G>A (p.Gly356Ser)	SLC39A14 (G356S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446707	NM_001128431.4(SLC39A14):c.751-9C>G	SLC39A14	Single nucleotide variant (intron variant)	Hypermanganesemia with dystonia 2 +1 more	GLikely pathogenic
Select item 446706	NM_015359.6(SLC39A14):c.512G>A (p.Gly171Glu)	SLC39A14 (G171E)	Single nucleotide variant (missense variant +1 more)	Hypermanganesemia with dystonia 2	Gnot provided
Select item 446705	NM_001128431.4(SLC39A14):c.367C>T (p.Gln123Ter)	SLC39A14 (Q123* +1 more)	Single nucleotide variant (nonsense)	Hypermanganesemia with dystonia 2	Gnot provided
Select item 242928	NM_001128431.4(SLC39A14):c.1407C>G (p.Asn469Lys)	SLC39A14 (N469K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypermanganesemia with dystonia 2	GPathogenic
Select item 242927	NM_001128431.4(SLC39A14):c.1147G>A (p.Gly383Arg)	SLC39A14 (G383R +1 more)	Single nucleotide variant (missense variant)	Hypermanganesemia with dystonia 2	GPathogenic
Select item 242926	NM_015359.6(SLC39A14):c.477_478del (p.Ser160fs)	SLC39A14 (S160fs)	Deletion (frameshift variant +1 more)	Hypermanganesemia with dystonia 2	GPathogenic
Select item 242925	NM_001128431.4(SLC39A14):c.313G>T (p.Glu105Ter)	SLC39A14 (E105* +1 more)	Single nucleotide variant (nonsense)	Hypermanganesemia with dystonia 2	GPathogenic
Select item 242924	NM_001128431.4(SLC39A14):c.292T>G (p.Phe98Val)	SLC39A14 (F98V +1 more)	Single nucleotide variant (missense variant)	Hypermanganesemia with dystonia 2	GPathogenic

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Items: 21