SLC39A11[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +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 3319744	NM_139177.4(SLC39A11):c.961A>G (p.Ile321Val)	SLC39A11 (I328V +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 3319743	NM_139177.4(SLC39A11):c.829G>A (p.Val277Met)	SLC39A11 (V277M +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 3319742	NM_139177.4(SLC39A11):c.713G>A (p.Gly238Asp)	SLC39A11 (G238D +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 3319746	NM_139177.4(SLC39A11):c.415C>G (p.Leu139Val)	LOC126862633, SLC39A11 (L139V)	Single nucleotide variant (missense variant)	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 3319745	NM_139177.4(SLC39A11):c.142G>A (p.Ala48Thr)	SLC39A11 (A48T)	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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

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Items: 52