SLC30A6[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 60108	GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1	BIRC6, DPY30 +28 more	Copy number loss	See cases	GPathogenic
Select item 219064	Single allele	NLRC4, SLC30A6 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219061	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219093	Single allele	LOC129388840, LOC129933456 +3 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 153430	GRCh38/hg38 2p22.3(chr2:32104942-32501212)x3	BIRC6, LOC129388840 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148380	GRCh38/hg38 2p22.3(chr2:32107824-32499727)x3	BIRC6, LOC129388840 +8 more	Copy number gain	See cases	GUncertain significance
Select item 219062	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219077	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219078	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219085	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219055	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219052	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219054	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 2219425	NM_017964.5(SLC30A6):c.58C>T (p.Arg20Trp)	SLC30A6 (R20W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552498	NM_017964.5(SLC30A6):c.86G>A (p.Arg29Gln)	SLC30A6 (R29Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164254	NM_017964.5(SLC30A6):c.166A>G (p.Asn56Asp)	SLC30A6 (N27D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2409137	NM_017964.5(SLC30A6):c.214T>C (p.Phe72Leu)	SLC30A6 (F23L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550422	NM_017964.5(SLC30A6):c.268C>T (p.Pro90Ser)	SLC30A6 (P61S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454581	NM_017964.5(SLC30A6):c.274T>C (p.Tyr92His)	SLC30A6 (Y43H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262971	NM_017964.5(SLC30A6):c.397C>T (p.His133Tyr)	SLC30A6 (H133Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164256	NM_017964.5(SLC30A6):c.425T>C (p.Phe142Ser)	SLC30A6 (F182S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254892	NM_017964.5(SLC30A6):c.452C>T (p.Thr151Met)	SLC30A6 (T102M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249415	NM_017964.5(SLC30A6):c.505A>G (p.Thr169Ala)	SLC30A6 (T209A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230608	NM_017964.5(SLC30A6):c.582C>A (p.Phe194Leu)	SLC30A6 (F234L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164257	NM_017964.5(SLC30A6):c.590G>A (p.Arg197Gln)	SLC30A6 (R197Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164258	NM_017964.5(SLC30A6):c.611T>C (p.Ile204Thr)	SLC30A6 (I130T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326188	NM_017964.5(SLC30A6):c.638G>T (p.Cys213Phe)	SLC30A6 (C139F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511893	NM_017964.5(SLC30A6):c.679G>A (p.Val227Ile)	SLC30A6 (V178I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164259	NM_017964.5(SLC30A6):c.762A>C (p.Leu254Phe)	SLC30A6 (L294F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346251	NM_017964.5(SLC30A6):c.808A>C (p.Ile270Leu)	SLC30A6 (I196L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164260	NM_017964.5(SLC30A6):c.824C>T (p.Thr275Ile)	SLC30A6 (T246I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294532	NM_017964.5(SLC30A6):c.865A>T (p.Thr289Ser)	SLC30A6 (T215S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619702	NM_017964.5(SLC30A6):c.952A>G (p.Asn318Asp)	SLC30A6 (N121D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164250	NM_017964.5(SLC30A6):c.1026G>T (p.Leu342Phe)	SLC30A6 (L293F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496572	NM_017964.5(SLC30A6):c.1046A>T (p.Asn349Ile)	SLC30A6 (N326I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164251	NM_017964.5(SLC30A6):c.1048G>C (p.Val350Leu)	SLC30A6 (V153L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275878	NM_017964.5(SLC30A6):c.1072G>A (p.Val358Ile)	SLC30A6 (V161I +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164252	NM_017964.5(SLC30A6):c.1082T>A (p.Met361Lys)	SLC30A6 (M338K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397282	NM_017964.5(SLC30A6):c.1099A>G (p.Thr367Ala)	SLC30A6 (T170A +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164253	NM_017964.5(SLC30A6):c.1292C>T (p.Pro431Leu)	SLC30A6 (P234L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	RRM2, RSAD2 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062607	GRCh37/hg19 2p22.3(chr2:32437298-34106470)x1	BIRC6, FAM98A +6 more	Copy number loss	not specified	GUncertain significance
Select item 2684431	GRCh37/hg19 2p23.1-22.3(chr2:32083215-32684402)x1	BIRC6, DPY30 +5 more	Copy number loss	not provided	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808538	GRCh37/hg19 2p22.3(chr2:32194952-32826745)x4	BIRC6, DPY30 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1434040	NC_000002.11:g.(?_32288901)_(32481844_?)dup	NLRC4, SLC30A6 +1 more	Duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1375711	NC_000002.11:g.(?_31558824)_(32481844_?)dup	DPY30, MEMO1 +5 more	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 988099	NC_000002.11:g.(32289091_32312562)_(32958959_32999928)del	TTC27, BIRC6 +4 more	Deletion	Hereditary spastic paraplegia 4	GLikely pathogenic
Select item 986411	Single allele	TTC27, SLC30A6 +5 more	Deletion	Spastic paraplegia	GUncertain significance
Select item 979970	GRCh37/hg19 2p22.3(chr2:32269694-32457939)x1	SLC30A6, SPAST +1 more	Copy number loss	not provided	GPathogenic
Select item 831367	NC_000002.11:g.(?_31558804)_(32481864_?)dup	DPY30, MEMO1 +5 more	Duplication	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 813268	Single allele	NLRC4, SPAST +1 more	Deletion	Spastic paraplegia	GLikely pathogenic
Select item 687302	GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1	ALK, BIRC6 +21 more	Copy number loss	not provided	GPathogenic
Select item 685336	GRCh37/hg19 2p23.1-22.3(chr2:31958977-33946495)x1	BIRC6, DPY30 +9 more	Copy number loss	not provided	GPathogenic
Select item 625542	GRCh37/hg19 2p22.3(chr2:32339736-32875274)	BIRC6, NLRC4 +4 more	Copy number loss	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic
Select item 219087	Single allele	YIPF4, BIRC6 +5 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219060	Single allele	SLC30A6, YIPF4 +3 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219057	Single allele	YIPF4, BIRC6 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic

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Items: 74