SLC30A10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 38295	nsv1067840	LOC129388752, SLC30A10	Deletion	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GPathogenic
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 295575	NM_018713.3(SLC30A10):c.*1128del	SLC30A10	Deletion (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	GBenign
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 295576	NM_018713.3(SLC30A10):c.*1088G>A	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis +1 more	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 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 295578	NM_018713.3(SLC30A10):c.*744G>T	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 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 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 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 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 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 295580	NM_018713.3(SLC30A10):c.*276C>T	SLC30A10	Single nucleotide variant (3 prime UTR variant +1 more)	Hypermanganesemia with dystonia, polycythemia, and cirrhosis +1 more	GBenign
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 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 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 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 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 1653791	NM_018713.3(SLC30A10):c.1449G>T (p.Thr483=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1544914	NM_018713.3(SLC30A10):c.1449G>C (p.Thr483=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 1378292	NM_018713.3(SLC30A10):c.1448C>T (p.Thr483Met)	SLC30A10 (T483M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1626137	NM_018713.3(SLC30A10):c.1437T>C (p.Tyr479=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1463294	NM_018713.3(SLC30A10):c.1427A>C (p.Asp476Ala)	SLC30A10 (D413A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1435869	NM_018713.3(SLC30A10):c.1427A>G (p.Asp476Gly)	SLC30A10 (D476G +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 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 875812	NM_018713.3(SLC30A10):c.1399G>A (p.Gly467Arg)	SLC30A10 (G404R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1929116	NM_018713.3(SLC30A10):c.1398C>T (p.His466=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1899140	NM_018713.3(SLC30A10):c.1372T>A (p.Ser458Thr)	SLC30A10 (S458T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1957871	NM_018713.3(SLC30A10):c.1360G>T (p.Ala454Ser)	SLC30A10 (A391S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021809	NM_018713.3(SLC30A10):c.1356A>G (p.Glu452=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1502609	NM_018713.3(SLC30A10):c.1348G>A (p.Ala450Thr)	SLC30A10 (A387T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2887460	NM_018713.3(SLC30A10):c.1347C>T (p.Asp449=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1901053	NM_018713.3(SLC30A10):c.1331_1332delinsTT (p.Gly444Val)	SLC30A10 (G219V +2 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1664487	NM_018713.3(SLC30A10):c.1326T>C (p.Ser442=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1359345	NM_018713.3(SLC30A10):c.1320C>G (p.Tyr440Ter)	SLC30A10 (Y377* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1481952	NM_018713.3(SLC30A10):c.1318T>C (p.Tyr440His)	SLC30A10 (Y440H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 2840580	NM_018713.3(SLC30A10):c.1309C>T (p.Leu437=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1576640	NM_018713.3(SLC30A10):c.1293C>A (p.His431Gln)	SLC30A10 (H368Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2101196	NM_018713.3(SLC30A10):c.1290G>A (p.Glu430=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 295583	NM_018713.3(SLC30A10):c.1272C>T (p.His424=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1353967	NM_018713.3(SLC30A10):c.1270C>T (p.His424Tyr)	SLC30A10 (H424Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1504626	NM_018713.3(SLC30A10):c.1252G>C (p.Gly418Arg)	SLC30A10 (G355R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868076	NM_018713.3(SLC30A10):c.1251C>A (p.Pro417=)	SLC30A10	Single nucleotide variant (synonymous variant)	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 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 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 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 3003649	NM_018713.3(SLC30A10):c.1224C>G (p.Gly408=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800062	NM_018713.3(SLC30A10):c.1224C>A (p.Gly408=)	SLC30A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1712660	NM_018713.3(SLC30A10):c.1180A>G (p.Lys394Glu)	SLC30A10 (K331E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2170334	NM_018713.3(SLC30A10):c.1164G>A (p.Lys388=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 1932983	NM_018713.3(SLC30A10):c.1131T>C (p.Asn377=)	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 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 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 1711238	NM_018713.3(SLC30A10):c.1089C>A (p.Ser363Arg)	SLC30A10 (S300R +1 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 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 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 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 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 1923854	NM_018713.3(SLC30A10):c.1038T>C (p.Ile346=)	SLC30A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486105	NM_018713.3(SLC30A10):c.1031A>G (p.Lys344Arg)	SLC30A10 (K344R +1 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 1304825	NM_018713.3(SLC30A10):c.1009A>G (p.Ile337Val)	SLC30A10 (I274V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1435975	NM_018713.3(SLC30A10):c.994G>A (p.Val332Ile)	SLC30A10 (V269I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1671766	NM_018713.3(SLC30A10):c.959-4A>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200153	NM_018713.3(SLC30A10):c.959-38C>T	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187030	NM_018713.3(SLC30A10):c.959-43T>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274092	NM_018713.3(SLC30A10):c.959-62T>G	SLC30A10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1200317	NM_018713.3(SLC30A10):c.959-80A>C	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274251	NM_018713.3(SLC30A10):c.958+298G>A	SLC30A10	Single nucleotide variant (intron variant)	not provided	GBenign

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