"GeneDx"[submitter] AND "LOC126807125"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 1271175	NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr)	LOC126807125, SLC39A8 (A324T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 424603	NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser)	LOC126807125, SLC39A8 (N389S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 432927	NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)	LOC126807125, SLC39A8 (L366fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 429636	NM_001135146.2(SLC39A8):c.1091A>G (p.Gln364Arg)	SLC39A8, LOC126807125 (Q364R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810718	NM_001135146.2(SLC39A8):c.1075G>A (p.Gly359Arg)	LOC126807125, SLC39A8 (G359R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 672166	NM_001135146.2(SLC39A8):c.1049-17TCT[4]	LOC126807125, SLC39A8	Microsatellite (intron variant)	not provided	GBenign
Select item 1196818	NM_001135146.2(SLC39A8):c.1049-44dup	LOC126807125, SLC39A8	Duplication (intron variant)	not provided	GLikely benign
Select item 1175666	NM_001135146.2(SLC39A8):c.1049-44_1049-43dup	LOC126807125, SLC39A8	Duplication (intron variant)	not provided	GBenign
Select item 1242477	NM_001135146.2(SLC39A8):c.1041C>T (p.His347=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 218896	NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)	LOC126807125, SLC39A8 (I340N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 383789	NM_001135146.2(SLC39A8):c.978C>A (p.Cys326Ter)	LOC126807125, SLC39A8 (C326* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1181411	NM_001135146.2(SLC39A8):c.966del (p.Ile322fs)	LOC126807125, SLC39A8 (I255fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1810741	NM_001135146.2(SLC39A8):c.940_948dup (p.Phe316_Ile317insHisAsnPhe)	LOC126807125, SLC39A8	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3253444	NM_001135146.2(SLC39A8):c.876G>C (p.Leu292Phe)	LOC126807125, SLC39A8 (L225F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364874	NM_001135146.2(SLC39A8):c.863del (p.Ser288fs)	LOC126807125, SLC39A8 (S221fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1278196	NM_001135146.2(SLC39A8):c.841-109T>C	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265547	NM_001135146.2(SLC39A8):c.841-180C>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266911	NM_001135146.2(SLC39A8):c.841-186G>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218602	NM_001135146.2(SLC39A8):c.841-201G>A	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 20