ClinVar for MedGen (Select 412958) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2682640	NM_018713.3(SLC30A10):c.392T>G (p.Leu131Arg)	SLC30A10 (L131R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GLikely pathogenic
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 876802	NM_018713.3(SLC30A10):c.482G>T (p.Gly161Val)	SLC30A10 (G161V)	Single nucleotide variant (missense variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 876801	NM_018713.3(SLC30A10):c.624G>A (p.Val208=)	SLC30A10	Single nucleotide variant (synonymous variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 876766	NM_018713.3(SLC30A10):c.*1088G>C	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 876765	NM_018713.3(SLC30A10):c.*1188T>C	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GLikely benign
Select item 875814	NM_018713.3(SLC30A10):c.789T>C (p.Tyr263=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis +1 more	GConflicting classifications of pathogenicity
Select item 875813	NM_018713.3(SLC30A10):c.1248C>T (p.Pro416=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875812	NM_018713.3(SLC30A10):c.1399G>A (p.Gly467Arg)	SLC30A10 (G404R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 874881	NM_018713.3(SLC30A10):c.*70G>A	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 874880	NM_018713.3(SLC30A10):c.*115C>G	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 874879	NM_018713.3(SLC30A10):c.*117G>C	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 874878	NM_018713.3(SLC30A10):c.*172T>C	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 874877	NM_018713.3(SLC30A10):c.*315G>A	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 873996	NM_018713.3(SLC30A10):c.66C>G (p.Phe22Leu)	SLC30A10 (F22L)	Single nucleotide variant (missense variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 873934	NM_018713.3(SLC30A10):c.*356G>A	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 873933	NM_018713.3(SLC30A10):c.*452T>G	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 873932	NM_018713.3(SLC30A10):c.*466A>T	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 873931	NM_018713.3(SLC30A10):c.*630G>A	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 873930	NM_018713.3(SLC30A10):c.*847G>A	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 375609	NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)	SLC30A10 (H336Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GConflicting classifications of pathogenicity
Select item 375608	NM_018713.3(SLC30A10):c.496_553del (p.Ala166fs)	SLC30A10	Deletion (frameshift variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Gnot provided
Select item 375607	NM_018713.3(SLC30A10):c.492del (p.Gly165fs)	SLC30A10 (G165fs)	Deletion (frameshift variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Gnot provided
Select item 375606	NM_018713.3(SLC30A10):c.460C>T (p.Gln154Ter)	SLC30A10 (Q154*)	Single nucleotide variant (nonsense +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Gnot provided
Select item 295600	NM_018713.3(SLC30A10):c.-87A>T	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 295599	NM_018713.3(SLC30A10):c.-70C>T	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295598	NM_018713.3(SLC30A10):c.-68C>T	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295597	NM_018713.3(SLC30A10):c.-54C>A	SLC30A10	Single nucleotide variant (intron variant +2 more)	not provided +1 more	GBenign
Select item 295596	NM_018713.3(SLC30A10):c.-20C>A	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295595	NM_018713.3(SLC30A10):c.-19G>A	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295594	NM_018713.3(SLC30A10):c.76C>G (p.Leu26Val)	SLC30A10 (L26V)	Single nucleotide variant (missense variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295593	NM_018713.3(SLC30A10):c.284C>T (p.Thr95Ile)	SLC30A10 (T95I)	Single nucleotide variant (missense variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis +2 more	GConflicting classifications of pathogenicity
Select item 295592	NM_018713.3(SLC30A10):c.440G>C (p.Gly147Ala)	SLC30A10 (G147A)	Single nucleotide variant (missense variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295591	NM_018713.3(SLC30A10):c.516C>G (p.Gly172=)	SLC30A10	Single nucleotide variant (synonymous variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis +2 more	GBenign
Select item 295590	NM_018713.3(SLC30A10):c.640+10G>A	SLC30A10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 295589	NM_018713.3(SLC30A10):c.676A>G (p.Met226Val)	SLC30A10 (M226V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis +1 more	GUncertain significance
Select item 295588	NM_018713.3(SLC30A10):c.719-6T>C	SLC30A10	Single nucleotide variant (intron variant)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis +2 more	GConflicting classifications of pathogenicity
Select item 295587	NM_018713.3(SLC30A10):c.907G>A (p.Ala303Thr)	SLC30A10 (A303T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 295586	NM_018713.3(SLC30A10):c.1068C>T (p.Asp356=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295585	NM_018713.3(SLC30A10):c.1118C>A (p.Ala373Glu)	SLC30A10 (A373E +1 more)	Single nucleotide variant (missense variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis +1 more	GConflicting classifications of pathogenicity
Select item 295584	NM_018713.3(SLC30A10):c.1249C>G (p.Pro417Ala)	SLC30A10 (P417A +1 more)	Single nucleotide variant (missense variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295583	NM_018713.3(SLC30A10):c.1272C>T (p.His424=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis +1 more	GBenign/Likely benign
Select item 295582	NM_018713.3(SLC30A10):c.1449G>A (p.Thr483=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 295581	NM_018713.3(SLC30A10):c.*239A>G	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295580	NM_018713.3(SLC30A10):c.*276C>T	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 295579	NM_018713.3(SLC30A10):c.*397C>T	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GUncertain significance
Select item 295578	NM_018713.3(SLC30A10):c.*744G>T	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GBenign
Select item 295577	NM_018713.3(SLC30A10):c.*945C>T	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GLikely benign
Select item 295576	NM_018713.3(SLC30A10):c.*1088G>A	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GBenign
Select item 295575	NM_018713.3(SLC30A10):c.*1128del	SLC30A10	Deletion (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GBenign
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
Select item 38295	nsv1067840	LOC129388752, SLC30A10	Deletion	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GPathogenic
Select item 30889	NM_018713.3(SLC30A10):c.1235del (p.Gln412fs)	SLC30A10 (Q412fs +1 more)	Deletion (frameshift variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GPathogenic
Select item 30888	NM_018713.3(SLC30A10):c.507del (p.Pro170fs)	SLC30A10 (P170fs)	Deletion (frameshift variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GPathogenic
Select item 30887	NM_018713.3(SLC30A10):c.585del (p.Thr196fs)	SLC30A10	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 30886	NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro)	SLC30A10 (L89P)	Single nucleotide variant (missense variant +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GPathogenic
Select item 30885	NM_018713.3(SLC30A10):c.314_322del (p.Ala105_Pro107del)	SLC30A10	Deletion (inframe_deletion +2 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 62