"GeneDx"[submitter] AND "SLC30A10"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	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 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 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 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 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 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 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 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 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 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 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
Select item 1222764	NM_018713.3(SLC30A10):c.958+279C>T	SLC30A10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193045	NM_018713.3(SLC30A10):c.958+135del	SLC30A10	Deletion (intron variant)	not provided	GLikely benign
Select item 1217052	NM_018713.3(SLC30A10):c.719-99A>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296734	NM_018713.3(SLC30A10):c.719-105A>C	SLC30A10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198447	NM_018713.3(SLC30A10):c.718+214A>T	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287263	NM_018713.3(SLC30A10):c.718+204A>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239162	NM_018713.3(SLC30A10):c.641-51del	SLC30A10	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1230158	NM_018713.3(SLC30A10):c.641-164T>C	SLC30A10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1203406	NM_018713.3(SLC30A10):c.641-216T>C	SLC30A10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1296837	NM_018713.3(SLC30A10):c.640+160_640+162del	SLC30A10	Deletion (intron variant)	not provided	GBenign
Select item 1270244	NM_018713.3(SLC30A10):c.640+159_640+162del	SLC30A10	Deletion (intron variant)	not provided	GBenign
Select item 1265011	NM_018713.3(SLC30A10):c.640+157_640+162del	SLC30A10	Deletion (intron variant)	not provided	GBenign
Select item 1257960	NM_018713.3(SLC30A10):c.640+156_640+162del	SLC30A10	Deletion (intron variant)	not provided	GBenign
Select item 1244431	NM_018713.3(SLC30A10):c.640+150_640+162del	SLC30A10	Deletion (intron variant)	not provided	GBenign
Select item 1190150	NM_018713.3(SLC30A10):c.640+161_640+162del	SLC30A10	Deletion (intron variant)	not provided	GLikely benign
Select item 1208110	NM_018713.3(SLC30A10):c.640+144T>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282731	NM_018713.3(SLC30A10):c.640+141T>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253940	NM_018713.3(SLC30A10):c.640+138T>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198653	NM_018713.3(SLC30A10):c.640+137_640+138insG	SLC30A10	Insertion (intron variant)	not provided	GLikely benign
Select item 1242417	NM_018713.3(SLC30A10):c.640+135T>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194463	NM_018713.3(SLC30A10):c.640+123GTT[5]	SLC30A10	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1237301	NM_018713.3(SLC30A10):c.640+122del	SLC30A10	Deletion (intron variant)	not provided	GBenign
Select item 1232168	NM_018713.3(SLC30A10):c.640+119_640+122del	SLC30A10	Deletion (intron variant)	not provided	GBenign
Select item 1230284	NM_018713.3(SLC30A10):c.640+120_640+121insG	SLC30A10	Insertion (intron variant)	not provided	GBenign
Select item 1286018	NM_018713.3(SLC30A10):c.640+120T>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286532	NM_018713.3(SLC30A10):c.640+118_640+119insG	SLC30A10	Insertion (intron variant)	not provided	GBenign
Select item 1276633	NM_018713.3(SLC30A10):c.640+117_640+118insG	SLC30A10	Insertion (intron variant)	not provided	GBenign
Select item 1275940	NM_018713.3(SLC30A10):c.640+118T>G	SLC30A10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268756	NM_018713.3(SLC30A10):c.640+113_640+114insTTG	SLC30A10	Insertion (intron variant)	not provided	GBenign
Select item 1241022	NM_018713.3(SLC30A10):c.640+113_640+114insTTTG	SLC30A10	Insertion (intron variant)	not provided	GBenign
Select item 1222500	NM_018713.3(SLC30A10):c.640+113_640+114insG	SLC30A10	Insertion (intron variant)	not provided	GBenign
Select item 1182906	NM_018713.3(SLC30A10):c.640+113_640+114insTG	SLC30A10	Insertion (intron variant)	not provided	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 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 1174923	NM_018713.3(SLC30A10):c.269C>T (p.Thr90Ile)	SLC30A10 (T90I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1309414	NM_018713.3(SLC30A10):c.167G>C (p.Ser56Thr)	SLC30A10 (S56T)	Single nucleotide variant (missense variant +2 more)	not provided	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 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 1186892	NM_001376929.1(SLC30A10):c.452-1742T>C	LOC121725074, SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203345	NM_001376929.1(SLC30A10):c.452-1772C>T	LOC121725074, SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207610	NM_001376929.1(SLC30A10):c.452-1871C>T	SLC30A10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 58