"GeneDx"[submitter] AND "SLC38A8"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 60063	GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3	CDH13, CDH13-AS2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 1222039	NC_000016.10:g.84009524T>C	SLC38A8	Single nucleotide variant	not provided	GBenign
Select item 1261175	NM_001080442.3(SLC38A8):c.*9T>C	SLC38A8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1311856	NM_001080442.3(SLC38A8):c.1256G>T (p.Gly419Val)	SLC38A8 (G419V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273027	NM_001080442.3(SLC38A8):c.1214+204C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255060	NM_001080442.3(SLC38A8):c.1214+194A>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278504	NM_001080442.3(SLC38A8):c.1214+174T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255227	NM_001080442.3(SLC38A8):c.1214+116C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241075	NM_001080442.3(SLC38A8):c.1214+107G>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286782	NM_001080442.3(SLC38A8):c.1162+262T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255180	NM_001080442.3(SLC38A8):c.1162+215A>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363935	NM_001080442.3(SLC38A8):c.1003C>T (p.Pro335Ser)	SLC38A8 (P335S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383461	NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)	SLC38A8 (S305P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 372508	NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)	SLC38A8 (D283A)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 817244	NM_001080442.3(SLC38A8):c.837del (p.Val280fs)	SLC38A8 (V280fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1232445	NM_001080442.3(SLC38A8):c.805+53_805+54del	SLC38A8	Deletion (intron variant)	not provided	GBenign
Select item 1700279	NM_001080442.3(SLC38A8):c.803C>T (p.Thr268Met)	SLC38A8 (T268M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 125446	NM_001080442.3(SLC38A8):c.697G>A (p.Glu233Lys)	SLC38A8 (E233K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1248998	NM_001080442.3(SLC38A8):c.691-245C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230808	NM_001080442.3(SLC38A8):c.659G>C (p.Ser220Thr)	SLC38A8 (S220T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1308889	NM_001080442.3(SLC38A8):c.633-5T>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1279236	NM_001080442.3(SLC38A8):c.633-59C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281772	NM_001080442.3(SLC38A8):c.633-63C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265507	NM_001080442.3(SLC38A8):c.633-165_633-164insTCCTCT	SLC38A8	Insertion (intron variant)	not provided	GBenign
Select item 1238038	NM_001080442.3(SLC38A8):c.633-264C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264548	NM_001080442.3(SLC38A8):c.632+265T>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1878796	NM_001080442.3(SLC38A8):c.538G>C (p.Gly180Arg)	SLC38A8 (G180R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224278	NM_001080442.3(SLC38A8):c.531-137T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264928	NM_001080442.3(SLC38A8):c.531-147C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264415	NM_001080442.3(SLC38A8):c.531-220_531-209del	SLC38A8	Deletion (intron variant)	not provided	GBenign
Select item 1181942	NM_001080442.3(SLC38A8):c.531-232CAA[4]	SLC38A8	Microsatellite (intron variant)	not provided	GBenign
Select item 1289449	NM_001080442.3(SLC38A8):c.459G>A (p.Leu153=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 817539	NM_001080442.3(SLC38A8):c.445C>T (p.Gln149Ter)	SLC38A8 (Q149*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1700530	NM_001080442.3(SLC38A8):c.425C>T (p.Pro142Leu)	SLC38A8 (P142L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699718	NM_001080442.3(SLC38A8):c.389-9C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1231372	NM_001080442.3(SLC38A8):c.388+271T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271010	NM_001080442.3(SLC38A8):c.388+254G>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248422	NM_001080442.3(SLC38A8):c.388+164G>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261542	NM_001080442.3(SLC38A8):c.388+69G>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383962	NM_001080442.3(SLC38A8):c.388+5G>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2444709	NM_001080442.3(SLC38A8):c.269G>T (p.Gly90Val)	SLC38A8 (G90V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1235112	NM_001080442.3(SLC38A8):c.195G>C (p.Ser65=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1291132	NM_001080442.3(SLC38A8):c.190-5C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768800	NM_001080442.3(SLC38A8):c.190-9T>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246940	NM_001080442.3(SLC38A8):c.190-123T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 291145	NM_001080442.3(SLC38A8):c.189+11G>T	SLC38A8	Single nucleotide variant (intron variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome +2 more	GBenign
Select item 253901	GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1	LOC654780, OSGIN1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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Items: 50