"GeneDx"[submitter] AND "SLC1A4"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 1182299	NM_001193493.2(SLC1A4):c.-134+630del	LOC129933945, SLC1A4	Deletion (intron variant)	not provided	GBenign
Select item 1280863	NM_001193493.2(SLC1A4):c.-134+633_-134+644del	LOC129933945, SLC1A4	Deletion (intron variant)	not provided	GBenign
Select item 1259866	NM_001193493.2(SLC1A4):c.-134+691C>G	LOC129933945, SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288310	NM_003038.3(SLC1A4):c.-291T>C	LOC129933945, SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226632	NM_003038.5(SLC1A4):c.-131C>G	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1274353	NM_003038.5(SLC1A4):c.-130G>C	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1288873	NM_003038.5(SLC1A4):c.-35C>T	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1243304	NM_003038.5(SLC1A4):c.21C>A (p.Thr7=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1167160	NM_003038.5(SLC1A4):c.109G>C (p.Gly37Arg)	SLC1A4 (G37R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1170224	NM_003038.5(SLC1A4):c.312G>C (p.Ser104=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1260910	NM_003038.5(SLC1A4):c.528-123C>T	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372341	NM_003038.5(SLC1A4):c.544A>C (p.Asn182His)	SLC1A4 (N182H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2435983	NM_003038.5(SLC1A4):c.570G>A (p.Thr190=)	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1268081	NM_003038.5(SLC1A4):c.570+82G>A	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256904	NM_003038.5(SLC1A4):c.571-128G>A	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290582	NM_003038.5(SLC1A4):c.633+96A>G	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265259	NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys)	SLC1A4 (E256K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1238451	NM_003038.5(SLC1A4):c.800+153G>A	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372351	NM_003038.5(SLC1A4):c.928G>A (p.Gly310Arg)	SLC1A4 (G310R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1280454	NM_003038.5(SLC1A4):c.1034+192C>T	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294985	NM_003038.5(SLC1A4):c.1034+242T>G	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167921	NM_003038.5(SLC1A4):c.1195G>A (p.Val399Ile)	SLC1A4 (V101I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1265301	NM_003038.5(SLC1A4):c.1364+104C>T	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294955	NM_003038.5(SLC1A4):c.1364+310G>A	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235074	NM_003038.5(SLC1A4):c.1365-241G>T	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286005	NM_003038.5(SLC1A4):c.1365-163A>G	SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372158	NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)	SLC1A4 (R457W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1685441	NM_003038.5(SLC1A4):c.1370G>A (p.Arg457Gln)	SLC1A4 (R159Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1170081	NM_003038.5(SLC1A4):c.1590G>A (p.Ser530=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Items: 30