Related gene-specific medical variations for Gene (Select 55532) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362498	NM_018713.3(SLC30A10):c.134dup (p.Ser46fs)	SLC30A10 (S46fs)	Duplication (5 prime UTR variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GLikely pathogenic
Select item 3256801	NM_001376929.1(SLC30A10):c.-5A>C	SLC30A10	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 3065894	NM_018713.3(SLC30A10):c.137C>A (p.Ser46Tyr)	SLC30A10 (S46Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 2442166	NM_001376929.1(SLC30A10):c.254C>T (p.Thr85Ile)	SLC30A10 (T85I)	Single nucleotide variant (missense variant)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 1203345	NM_001376929.1(SLC30A10):c.452-1772C>T	LOC121725074, SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186892	NM_001376929.1(SLC30A10):c.452-1742T>C	LOC121725074, SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 395523	GRCh37/hg19 1q41(chr1:220089258-220100436)x3	SLC30A10	Copy number gain	See cases	GLikely benign
Select item 38410	NM_018713.3(SLC30A10):c.922C>T (p.Gln308Ter)	SLC30A10 (Q308* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Gnot provided
Select item 38409	NM_018713.3(SLC30A10):c.765_767del (p.Val256del)	SLC30A10 (V193del)	Deletion (inframe_deletion +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Gnot provided
Select item 38408	NM_018713.3(SLC30A10):c.500T>C (p.Phe167Ser)	SLC30A10 (F167S)	Single nucleotide variant (missense variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Gnot provided
Select item 38407	NM_018713.3(SLC30A10):c.292_402del (p.Val98_Phe134del)	SLC30A10	Deletion (inframe_deletion +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Gnot provided
Select item 38406	NM_018713.3(SLC30A10):c.1046T>C (p.Leu349Pro)	SLC30A10 (L349P +1 more)	Single nucleotide variant (missense variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Gnot provided