SLC39A11[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2593375	NM_139177.4(SLC39A11):c.994G>A (p.Val332Ile)	SLC39A11 (V332I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206739	NM_139177.4(SLC39A11):c.892G>A (p.Val298Met)	SLC39A11 (V305M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227215	NM_139177.4(SLC39A11):c.727C>A (p.Leu243Ile)	SLC39A11 (L243I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164648	NM_139177.4(SLC39A11):c.644C>T (p.Thr215Met)	SLC39A11 (T215M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152574	GRCh38/hg38 17q24.3-25.1(chr17:72748663-73054904)x3	LOC125316789, LOC126862633 +4 more	Copy number gain	See cases	GLikely benign
Select item 487809	NM_139177.4(SLC39A11):c.595G>T (p.Val199Phe)	SLC39A11 (V199F +1 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 2292515	NM_139177.4(SLC39A11):c.592A>G (p.Asn198Asp)	SLC39A11 (N198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164647	NM_139177.4(SLC39A11):c.584C>T (p.Thr195Ile)	SLC39A11 (T195I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217420	NM_139177.4(SLC39A11):c.557G>A (p.Arg186Lys)	SLC39A11 (R193K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401348	NM_139177.4(SLC39A11):c.552G>C (p.Trp184Cys)	SLC39A11 (W184C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164646	NM_139177.4(SLC39A11):c.542G>A (p.Gly181Asp)	SLC39A11 (G181D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164645	NM_139177.4(SLC39A11):c.497C>T (p.Pro166Leu)	SLC39A11 (P166L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334380	NM_139177.4(SLC39A11):c.493G>A (p.Gly165Ser)	SLC39A11 (G165S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164643	NM_139177.4(SLC39A11):c.430+6G>A	LOC126862633, SLC39A11 (A146T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323113	NM_139177.4(SLC39A11):c.406G>A (p.Glu136Lys)	LOC126862633, SLC39A11 (E136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164642	NM_139177.4(SLC39A11):c.389C>T (p.Pro130Leu)	LOC126862633, SLC39A11 (P130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648171	NM_139177.4(SLC39A11):c.348C>T (p.Phe116=)	LOC126862633, SLC39A11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777719	NM_139177.4(SLC39A11):c.313G>A (p.Ala105Thr)	LOC126862633, SLC39A11 (A105T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 152856	GRCh38/hg38 17q25.1(chr17:73031361-73264388)x3	C17orf80, COG1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2553623	NM_139177.4(SLC39A11):c.301C>G (p.His101Asp)	SLC39A11 (H101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546633	NM_139177.4(SLC39A11):c.289C>T (p.Leu97Phe)	SLC39A11 (L97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539378	NM_139177.4(SLC39A11):c.260T>C (p.Leu87Pro)	SLC39A11 (L87P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349271	NM_139177.4(SLC39A11):c.256A>G (p.Thr86Ala)	SLC39A11 (T86A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372988	NM_139177.4(SLC39A11):c.237C>G (p.Phe79Leu)	SLC39A11 (F79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164641	NM_139177.4(SLC39A11):c.199G>T (p.Ala67Ser)	SLC39A11 (A67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492527	NM_139177.4(SLC39A11):c.153G>A (p.Met51Ile)	SLC39A11 (M51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478606	NM_139177.4(SLC39A11):c.122A>G (p.Asp41Gly)	SLC39A11 (D41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777027	NM_139177.4(SLC39A11):c.113G>A (p.Arg38Gln)	SLC39A11 (R38Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3164640	NM_139177.4(SLC39A11):c.106C>G (p.Gln36Glu)	SLC39A11 (Q36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377796	NM_139177.4(SLC39A11):c.91G>A (p.Val31Ile)	SLC39A11 (V31I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648172	NM_139177.4(SLC39A11):c.60G>A (p.Gly20=)	SLC39A11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548210	NM_139177.4(SLC39A11):c.44C>A (p.Thr15Asn)	SLC39A11 (T15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787648	NM_139177.4(SLC39A11):c.6C>T (p.Leu2=)	SLC39A11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2685607	GRCh37/hg19 17q24.3-25.1(chr17:69501527-71380722)x1	CDC42EP4, COG1 +7 more	Copy number loss	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564467	GRCh37/hg19 17q24.3(chr17:67671686-70691445)x3	KCNJ16, KCNJ2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394640	GRCh37/hg19 17q24.3-25.1(chr17:70880685-70939838)x1	SLC39A11	Copy number loss	See cases	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47