SLC39A9[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 3319783	NM_018375.5(SLC39A9):c.107A>G (p.Lys36Arg)	SLC39A9 (K36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164735	NM_018375.5(SLC39A9):c.296A>G (p.His99Arg)	SLC39A9 (H99R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319782	NM_018375.5(SLC39A9):c.386A>G (p.His129Arg)	SLC39A9 (H11R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781132	NM_018375.5(SLC39A9):c.735G>A (p.Val245=)	SLC39A9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3164736	NM_018375.5(SLC39A9):c.826G>A (p.Asp276Asn)	SLC39A9 (D276N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319784	NM_018375.5(SLC39A9):c.854G>T (p.Arg285Leu)	SLC39A9 (R285L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384628	NM_018375.5(SLC39A9):c.854G>A (p.Arg285His)	SLC39A9 (R167H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164737	NM_018375.5(SLC39A9):c.891C>G (p.Ile297Met)	SLC39A9 (I297M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063331	GRCh37/hg19 14q24.1(chr14:69909189-69981608)x1	PLEKHD1, SLC39A9	Copy number loss	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	SLC39A9, PLEKHD1 +13 more	Deletion	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 689205	GRCh37/hg19 14q24.1(chr14:69921280-69976359)x3	PLEKHD1, SLC39A9	Copy number gain	not provided	GUncertain significance
Select item 687816	GRCh37/hg19 14q24.1(chr14:69921280-69976359)x3	PLEKHD1, SLC39A9	Copy number gain	not provided	GUncertain significance
Select item 687805	GRCh37/hg19 14q24.1(chr14:69921280-69976359)x3	PLEKHD1, SLC39A9	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 21