"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SLC39A4"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 731046	NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 709222	NM_130849.4(SLC39A4):c.1659G>C (p.Leu553=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 752533	NM_130849.4(SLC39A4):c.1149+8C>T	SLC39A4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 810335	NM_130849.4(SLC39A4):c.1004_1020dup (p.Ala341fs)	SLC39A4 (A316fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1154383	NM_130849.4(SLC39A4):c.987C>T (p.Tyr329=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335722	NM_130849.4(SLC39A4):c.805-24T>C	SLC39A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 722133	NM_130849.4(SLC39A4):c.744C>T (p.Ala248=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3537	NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)	SLC39A4 (P200L +1 more)	Single nucleotide variant (missense variant)	SLC39A4-related condition +2 more	GPathogenic/Likely pathogenic
Select item 719022	NM_130849.4(SLC39A4):c.339C>T (p.Asp113=)	SLC39A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 810336	NM_130849.4(SLC39A4):c.295G>A (p.Ala99Thr)	SLC39A4 (A99T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 362262	NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)	SLC39A4 (P86L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 734265	NM_130849.4(SLC39A4):c.87G>A (p.Leu29=)	SLC39A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776397	NM_130849.4(SLC39A4):c.66G>A (p.Ala22=)	SLC39A4	Single nucleotide variant (synonymous variant)	SLC39A4-related condition +1 more	GBenign/Likely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	LY6E, LY6H +173 more	Copy number gain	not provided	GPathogenic