SLC39A13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 512793	NM_001128225.3(SLC39A13):c.-33G>C	SLC39A13, SLC39A13-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 390363	NM_001128225.3(SLC39A13):c.-32G>T	SLC39A13, SLC39A13-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 517012	NM_001128225.3(SLC39A13):c.-29CGC[7]	SLC39A13, SLC39A13-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1702276	NM_001128225.3(SLC39A13):c.-9+3G>A	SLC39A13, SLC39A13-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 432424	NM_001128225.3(SLC39A13):c.-9+3G>T	SLC39A13, SLC39A13-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1239745	NM_001128225.3(SLC39A13):c.-9+245T>C	SLC39A13, SLC39A13-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2436025	NM_001128225.3(SLC39A13):c.-9+256T>C	SLC39A13, SLC39A13-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 1241668	NM_001128225.3(SLC39A13):c.-8-348T>G	SLC39A13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189899	NM_001128225.3(SLC39A13):c.-8-335A>G	SLC39A13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215474	NM_001128225.3(SLC39A13):c.-8-128C>T	SLC39A13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277095	NM_001128225.3(SLC39A13):c.-8-109G>A	SLC39A13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285981	NM_001128225.3(SLC39A13):c.-8-73G>A	SLC39A13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513624	NM_001128225.3(SLC39A13):c.-8-18G>T	SLC39A13	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 513330	NM_001128225.3(SLC39A13):c.-8-16C>A	SLC39A13	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3319751	NM_001128225.3(SLC39A13):c.22G>A (p.Gly8Ser)	SLC39A13 (G8S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1476405	NM_001128225.3(SLC39A13):c.23G>T (p.Gly8Val)	SLC39A13 (G8V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GUncertain significance
Select item 1512991	NM_001128225.3(SLC39A13):c.31A>G (p.Met11Val)	SLC39A13 (M11V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2481815	NM_001128225.3(SLC39A13):c.32T>C (p.Met11Thr)	SLC39A13 (M11T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 652451	NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val)	SLC39A13 (A12V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2859110	NM_001128225.3(SLC39A13):c.36G>A (p.Ala12=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 1213030	NM_001128225.3(SLC39A13):c.38G>C (p.Gly13Ala)	SLC39A13 (G13A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1010781	NM_001128225.3(SLC39A13):c.38G>T (p.Gly13Val)	SLC39A13 (G13V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 737744	NM_001128225.3(SLC39A13):c.39C>T (p.Gly13=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2713436	NM_001128225.3(SLC39A13):c.51C>T (p.Leu17=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 597727	NM_001128225.3(SLC39A13):c.55C>T (p.Leu19Phe)	SLC39A13 (L19F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2182142	NM_001128225.3(SLC39A13):c.57_58inv (p.Thr20Ala)	SLC39A13 (T20A)	Inversion (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 384705	NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala)	SLC39A13 (T20A)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GBenign
Select item 2712078	NM_001128225.3(SLC39A13):c.69C>T (p.Ala23=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 1702278	NM_001128225.3(SLC39A13):c.72G>A (p.Leu24=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 469537	NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GLikely benign
Select item 469538	NM_001128225.3(SLC39A13):c.83= (p.Glu28=)	SLC39A13 (G28E)	Single nucleotide variant (no sequence alteration +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GBenign
Select item 403458	NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly)	SLC39A13 (E28G)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 1410682	NM_001128225.3(SLC39A13):c.86G>A (p.Arg29Lys)	SLC39A13 (R29K)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2184002	NM_001128225.3(SLC39A13):c.93G>C (p.Gly31=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 952775	NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val)	SLC39A13 (G32V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1321598	NM_001128225.3(SLC39A13):c.104C>T (p.Pro35Leu)	SLC39A13 (P35L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 772490	NM_001128225.3(SLC39A13):c.105G>A (p.Pro35=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 1139165	NM_001128225.3(SLC39A13):c.108C>T (p.Ala36=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2026082	NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)	SLC39A13 (L37F)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 1135141	NM_001128225.3(SLC39A13):c.111C>T (p.Leu37=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 1424130	NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp)	SLC39A13 (R38W)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GUncertain significance
Select item 1019768	NM_001128225.3(SLC39A13):c.113G>A (p.Arg38Gln)	SLC39A13 (R38Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 452270	NM_001128225.3(SLC39A13):c.116G>A (p.Ser39Asn)	SLC39A13 (S39N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 651607	NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp)	SLC39A13 (R40W)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GConflicting classifications of pathogenicity
Select item 289730	NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln)	SLC39A13 (R40Q)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +4 more	GBenign
Select item 1524834	NM_001128225.3(SLC39A13):c.128C>T (p.Ala43Val)	SLC39A13 (A43V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2203510	NM_001128225.3(SLC39A13):c.129G>A (p.Ala43=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GLikely benign
Select item 2043006	NM_001128225.3(SLC39A13):c.131C>T (p.Thr44Met)	SLC39A13 (T44M)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 288218	NM_001128225.3(SLC39A13):c.132G>A (p.Thr44=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1966314	NM_001128225.3(SLC39A13):c.133G>A (p.Ala45Thr)	SLC39A13 (A45T)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 844642	NM_001128225.3(SLC39A13):c.134C>T (p.Ala45Val)	SLC39A13 (A45V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2683148	NM_001128225.3(SLC39A13):c.139C>G (p.Arg47Gly)	SLC39A13 (R47G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 663097	NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys)	SLC39A13 (R47C)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GUncertain significance
Select item 1163521	NM_001128225.3(SLC39A13):c.140G>A (p.Arg47His)	SLC39A13 (R47H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1942110	NM_001128225.3(SLC39A13):c.141C>T (p.Arg47=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 835146	NM_001128225.3(SLC39A13):c.149A>G (p.Asn50Ser)	SLC39A13 (N50S)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 508442	NM_001128225.3(SLC39A13):c.153G>A (p.Lys51=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2107878	NM_001128225.3(SLC39A13):c.156A>G (p.Glu52=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2045129	NM_001128225.3(SLC39A13):c.163T>C (p.Ser55Pro)	SLC39A13 (S55P)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2050372	NM_001128225.3(SLC39A13):c.166dup (p.Trp56fs)	SLC39A13 (W56fs)	Duplication (frameshift variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 1328827	NM_001128225.3(SLC39A13):c.169G>C (p.Gly57Arg)	SLC39A13 (G57R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1077710	NM_001128225.3(SLC39A13):c.183C>T (p.Ser61=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 423698	NM_001128225.3(SLC39A13):c.184G>A (p.Gly62Arg)	SLC39A13 (G62R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 571538	NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala)	SLC39A13 (G62A)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 1008557	NM_001128225.3(SLC39A13):c.191G>A (p.Arg64Gln)	SLC39A13 (R64Q)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 1702275	NM_001128225.3(SLC39A13):c.211T>C (p.Ser71Pro)	SLC39A13 (S71P)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 513107	NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1304406	NM_001128225.3(SLC39A13):c.221G>T (p.Gly74Val)	SLC39A13 (G74V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2133	NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp)	SLC39A13 (G74D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195411	NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1499285	NM_001128225.3(SLC39A13):c.234G>A (p.Val78=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 1153764	NM_001128225.3(SLC39A13):c.234G>T (p.Val78=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2880827	NM_001128225.3(SLC39A13):c.240C>T (p.Leu80=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 1555904	NM_001128225.3(SLC39A13):c.249C>T (p.Val83=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 838611	NM_001128225.3(SLC39A13):c.255_269del (p.Leu87_Leu91del)	SLC39A13	Deletion (inframe_deletion +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 1304407	NM_001128225.3(SLC39A13):c.254C>T (p.Pro85Leu)	SLC39A13 (P85L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1083486	NM_001128225.3(SLC39A13):c.255G>A (p.Pro85=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 573374	NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val)	SLC39A13 (I89V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 511837	NM_001128225.3(SLC39A13):c.270C>T (p.Pro90=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 452914	NM_001128225.3(SLC39A13):c.284C>T (p.Thr95Ile)	SLC39A13 (T95I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1379051	NM_001128225.3(SLC39A13):c.286A>G (p.Met96Val)	SLC39A13 (M96V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2131887	NM_001128225.3(SLC39A13):c.291G>A (p.Leu97=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 1462526	NM_001128225.3(SLC39A13):c.292C>T (p.Arg98Cys)	SLC39A13 (R98C)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GUncertain significance
Select item 1423651	NM_001128225.3(SLC39A13):c.299A>C (p.Glu100Ala)	SLC39A13 (E100A)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 860715	NM_001128225.3(SLC39A13):c.301+5G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 1900391	NM_001128225.3(SLC39A13):c.301+12_301+13del	SLC39A13	Microsatellite (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2703485	NM_001128225.3(SLC39A13):c.301+14C>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 384715	NM_001128225.3(SLC39A13):c.301+15G>A	SLC39A13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 384706	NM_001128225.3(SLC39A13):c.301+20C>T	SLC39A13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1286678	NM_001128225.3(SLC39A13):c.301+88G>C	SLC39A13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661613	NM_001128225.3(SLC39A13):c.302-17G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 1586075	NM_001128225.3(SLC39A13):c.302-7C>G	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2955553	NM_001128225.3(SLC39A13):c.302-6T>C	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2895096	NM_001128225.3(SLC39A13):c.302-4G>C	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 653236	NM_001128225.3(SLC39A13):c.302-3T>C	SLC39A13	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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