"GeneDx"[submitter] AND "SLC39A4"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 58435	GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3	MIR6893, MIR939 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1306655	NM_130849.4(SLC39A4):c.1898C>T (p.Thr633Ile)	SLC39A4 (T135I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429357	NM_130849.4(SLC39A4):c.1896G>A (p.Trp632Ter)	SLC39A4 (W632* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1225106	NM_130849.4(SLC39A4):c.1475-38G>T	SLC39A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264150	NM_130849.4(SLC39A4):c.1419+28=	SLC39A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185232	NM_130849.4(SLC39A4):c.1287+22C>G	SLC39A4	Single nucleotide variant (intron variant)	Hereditary acrodermatitis enteropathica +1 more	GBenign
Select item 1233867	NM_130849.4(SLC39A4):c.1150-42=	SLC39A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362242	NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala)	SLC39A4 (T357A +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica +2 more	GBenign
Select item 1204083	NM_130849.4(SLC39A4):c.659C>T (p.Thr220Met)	SLC39A4 (T126M +2 more)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica +2 more	GUncertain significance
Select item 3537	NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)	SLC39A4 (P200L +1 more)	Single nucleotide variant (missense variant)	SLC39A4-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 390605	NM_130849.4(SLC39A4):c.493C>T (p.Gln165Ter)	SLC39A4 (Q165* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 362260	NM_130849.4(SLC39A4):c.340G>A (p.Ala114Thr)	SLC39A4 (A114T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary acrodermatitis enteropathica +2 more	GBenign
Select item 362263	NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)	SLC39A4 (P84L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary acrodermatitis enteropathica +2 more	GBenign/Likely benign
Select item 1185276	NM_130849.4(SLC39A4):c.193-89A>C	SLC39A4 (E10A)	Single nucleotide variant (missense variant +1 more)	Hereditary acrodermatitis enteropathica +1 more	GBenign
Select item 489184	NM_130849.4(SLC39A4):c.193-115G>A	SLC39A4 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1455861	NM_130849.4(SLC39A4):c.192+19G>A	SLC39A4	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 362265	NM_130849.4(SLC39A4):c.172G>A (p.Ala58Thr)	SLC39A4 (A58T)	Single nucleotide variant (missense variant)	Hereditary acrodermatitis enteropathica +2 more	GBenign
Select item 362267	NM_130849.4(SLC39A4):c.63G>C (p.Thr21=)	SLC39A4	Single nucleotide variant (synonymous variant)	Hereditary acrodermatitis enteropathica +1 more	GBenign/Likely benign
Select item 253782	GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3	ADCK5, ARHGAP39 +15 more	Copy number gain	See cases	GUncertain significance

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Items: 22