ClinVar for Gene (Select 55532) - ClinVar - NCBI

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	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 3319498	NM_018713.3(SLC30A10):c.229G>T (p.Ala77Ser)	SLC30A10 (A77S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3319497	NM_018713.3(SLC30A10):c.85G>C (p.Gly29Arg)	SLC30A10 (G29R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3319496	NM_018713.3(SLC30A10):c.1312G>T (p.Asp438Tyr)	SLC30A10 (D213Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256801	NM_001376929.1(SLC30A10):c.-5A>C	SLC30A10	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 3247713	NC_000001.10:g.(?_220088791)_(220445679_?)dup	BPNT1, EPRS1 +5 more	Duplication	Martsolf syndrome +1 more	GUncertain significance
Select item 3239204	NM_018713.3(SLC30A10):c.231C>G (p.Ala77=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3164224	NM_018713.3(SLC30A10):c.926T>C (p.Met309Thr)	SLC30A10 (M246T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164222	NM_018713.3(SLC30A10):c.521A>G (p.Glu174Gly)	SLC30A10 (E174G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3164221	NM_018713.3(SLC30A10):c.499T>G (p.Phe167Val)	SLC30A10 (F167V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3164220	NM_018713.3(SLC30A10):c.1313A>T (p.Asp438Val)	SLC30A10 (D213V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164219	NM_018713.3(SLC30A10):c.1157A>G (p.Asp386Gly)	SLC30A10 (D386G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
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 3043280	NM_018713.3(SLC30A10):c.1387C>T (p.Leu463=)	SLC30A10	Single nucleotide variant (synonymous variant)	SLC30A10-related disorder	GLikely benign
Select item 3021809	NM_018713.3(SLC30A10):c.1356A>G (p.Glu452=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005049	NM_018713.3(SLC30A10):c.507G>A (p.Gly169=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3003649	NM_018713.3(SLC30A10):c.1224C>G (p.Gly408=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983781	NM_018713.3(SLC30A10):c.640+18C>A	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977962	NM_018713.3(SLC30A10):c.426G>T (p.Ala142=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2908361	NM_018713.3(SLC30A10):c.351C>T (p.Leu117=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2903609	NM_018713.3(SLC30A10):c.273G>A (p.Ala91=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2893996	NM_018713.3(SLC30A10):c.640+9C>T	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887460	NM_018713.3(SLC30A10):c.1347C>T (p.Asp449=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868076	NM_018713.3(SLC30A10):c.1251C>A (p.Pro417=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840580	NM_018713.3(SLC30A10):c.1309C>T (p.Leu437=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821856	NM_018713.3(SLC30A10):c.804G>A (p.Lys268=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794173	NM_018713.3(SLC30A10):c.958+18T>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792988	NM_018713.3(SLC30A10):c.591G>C (p.Ser197=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
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 2611084	NM_018713.3(SLC30A10):c.1055A>C (p.Lys352Thr)	SLC30A10 (K352T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582870	NM_001376929.1(SLC30A10):c.438A>T (p.Gly146=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2545493	NM_018713.3(SLC30A10):c.1130A>G (p.Asn377Ser)	SLC30A10 (N314S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534591	NM_018713.3(SLC30A10):c.385G>C (p.Val129Leu)	SLC30A10 (V129L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534590	NM_018713.3(SLC30A10):c.374T>C (p.Leu125Ser)	SLC30A10 (L125S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534589	NM_018713.3(SLC30A10):c.373T>G (p.Leu125Val)	SLC30A10 (L125V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534588	NM_018713.3(SLC30A10):c.362T>C (p.Val121Ala)	SLC30A10 (V121A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2534587	NM_018713.3(SLC30A10):c.205A>G (p.Ser69Gly)	SLC30A10 (S69G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534586	NM_018713.3(SLC30A10):c.204C>G (p.Phe68Leu)	SLC30A10 (F68L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2534585	NM_018713.3(SLC30A10):c.202T>C (p.Phe68Leu)	SLC30A10 (F68L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2534584	NM_018713.3(SLC30A10):c.196C>G (p.Arg66Gly)	SLC30A10 (R66G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2534582	NM_018713.3(SLC30A10):c.193A>C (p.Thr65Pro)	SLC30A10 (T65P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2510419	NM_018713.3(SLC30A10):c.194C>G (p.Thr65Ser)	SLC30A10 (T65S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2506035	NC_000001.10:g.(?_220087605)_(220101994_?)dup	SLC30A10	Duplication	not specified	GUncertain significance
Select item 2498163	NM_018713.3(SLC30A10):c.823T>A (p.Trp275Arg)	SLC30A10 (W212R +2 more)	Single nucleotide variant (missense variant)	Congenital Erythrocytosis	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 2426497	NC_000001.10:g.(?_220088791)_(220101782_?)dup	SLC30A10	Duplication	not provided	GUncertain significance
Select item 2426429	NC_000001.10:g.(?_220088791)_(220986760_?)dup	BPNT1, C1orf115 +9 more	Duplication	not provided	GUncertain significance
Select item 2426428	NC_000001.10:g.(?_220088791)_(220445679_?)del	BPNT1, EPRS1 +5 more	Deletion	not provided	GPathogenic
Select item 2425804	NC_000001.10:g.(?_218520044)_(220986760_?)del	MTARC2, RAB3GAP2 +11 more	Deletion	Martsolf syndrome +1 more	GPathogenic
Select item 2425803	NC_000001.10:g.(?_220088791)_(220406225_?)dup	BPNT1, EPRS1 +5 more	Duplication	Martsolf syndrome +1 more	GUncertain significance
Select item 2422000	NM_018713.3(SLC30A10):c.280T>C (p.Phe94Leu)	SLC30A10 (F94L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2420403	NM_018713.3(SLC30A10):c.280T>G (p.Phe94Val)	SLC30A10 (F94V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2379799	NM_018713.3(SLC30A10):c.946A>G (p.Met316Val)	SLC30A10 (M316V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326146	NM_018713.3(SLC30A10):c.413C>G (p.Ala138Gly)	SLC30A10 (A138G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244348	NM_018713.3(SLC30A10):c.856C>T (p.Leu286Phe)	SLC30A10 (L286F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2198241	NM_018713.3(SLC30A10):c.1040C>T (p.Ala347Val)	SLC30A10 (A284V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2192516	NM_018713.3(SLC30A10):c.718+4G>A	SLC30A10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2190618	NM_018713.3(SLC30A10):c.105C>T (p.Ile35=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2187810	NM_018713.3(SLC30A10):c.222C>T (p.Tyr74=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2174943	NM_018713.3(SLC30A10):c.314C>T (p.Ala105Val)	SLC30A10 (A105V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2170334	NM_018713.3(SLC30A10):c.1164G>A (p.Lys388=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2164399	NM_018713.3(SLC30A10):c.1168C>T (p.Pro390Ser)	SLC30A10 (P327S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2163857	NM_018713.3(SLC30A10):c.1408C>A (p.Leu470Ile)	SLC30A10 (L470I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2163162	NM_018713.3(SLC30A10):c.1337G>A (p.Ser446Asn)	SLC30A10 (S383N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2158592	NM_018713.3(SLC30A10):c.1403A>G (p.Gln468Arg)	SLC30A10 (Q405R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2150339	NM_018713.3(SLC30A10):c.1295A>G (p.Asn432Ser)	SLC30A10 (N432S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2134775	NM_018713.3(SLC30A10):c.923A>C (p.Gln308Pro)	SLC30A10 (Q245P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2130728	NM_018713.3(SLC30A10):c.1021G>A (p.Val341Ile)	SLC30A10 (V116I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125813	NM_018713.3(SLC30A10):c.494G>T (p.Gly165Val)	SLC30A10 (G165V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2123644	NM_018713.3(SLC30A10):c.486T>C (p.Cys162=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2116840	NM_018713.3(SLC30A10):c.871A>G (p.Ile291Val)	SLC30A10 (I228V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2110049	NM_018713.3(SLC30A10):c.1081G>A (p.Asp361Asn)	SLC30A10 (D298N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101196	NM_018713.3(SLC30A10):c.1290G>A (p.Glu430=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100022	NM_018713.3(SLC30A10):c.430T>C (p.Cys144Arg)	SLC30A10 (C144R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2098891	NM_018713.3(SLC30A10):c.518C>A (p.Ala173Glu)	SLC30A10 (A173E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2095775	NM_018713.3(SLC30A10):c.1099C>T (p.Arg367Ter)	SLC30A10 (R142* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2086371	NM_018713.3(SLC30A10):c.528G>T (p.Pro176=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2085709	NM_018713.3(SLC30A10):c.1250C>T (p.Pro417Leu)	SLC30A10 (P192L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077029	NM_018713.3(SLC30A10):c.178A>C (p.Ile60Leu)	SLC30A10 (I60L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2076953	NM_018713.3(SLC30A10):c.965A>G (p.Lys322Arg)	SLC30A10 (K97R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2076085	NM_018713.3(SLC30A10):c.640+4C>T	SLC30A10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2074649	NM_018713.3(SLC30A10):c.502G>C (p.Gly168Arg)	SLC30A10 (G168R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2067081	NM_018713.3(SLC30A10):c.1352G>A (p.Arg451Lys)	SLC30A10 (R451K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2048355	NM_018713.3(SLC30A10):c.757G>A (p.Val253Met)	SLC30A10 (V28M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2044855	NM_018713.3(SLC30A10):c.96C>A (p.Gly32=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2044757	NM_018713.3(SLC30A10):c.815C>T (p.Pro272Leu)	SLC30A10 (P209L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043638	NM_018713.3(SLC30A10):c.195C>G (p.Thr65=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2009050	NM_018713.3(SLC30A10):c.830G>A (p.Cys277Tyr)	SLC30A10 (C277Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998693	NM_018713.3(SLC30A10):c.1207C>T (p.Pro403Ser)	SLC30A10 (P403S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996501	NM_018713.3(SLC30A10):c.1271A>T (p.His424Leu)	SLC30A10 (H424L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1986271	NM_018713.3(SLC30A10):c.302T>C (p.Val101Ala)	SLC30A10 (V101A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1985078	NM_018713.3(SLC30A10):c.774G>A (p.Thr258=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981001	NM_018713.3(SLC30A10):c.921A>G (p.Leu307=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980668	NM_018713.3(SLC30A10):c.1185C>G (p.Asp395Glu)	SLC30A10 (D332E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977039	NM_018713.3(SLC30A10):c.492C>T (p.Pro164=)	SLC30A10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1974987	NM_018713.3(SLC30A10):c.640+10G>C	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967039	NM_018713.3(SLC30A10):c.888C>T (p.Phe296=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966007	NM_018713.3(SLC30A10):c.750G>A (p.Leu250=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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