"GeneDx"[submitter] AND "SLC22A4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 1249318	NC_000005.10:g.132294369C>G	LOC129994566, SLC22A4	Single nucleotide variant	not provided	GBenign
Select item 1239763	NM_003059.3(SLC22A4):c.393+150A>C	SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220625	NM_003059.3(SLC22A4):c.498-121A>G	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280356	NM_003059.3(SLC22A4):c.498-85G>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280672	NM_003059.3(SLC22A4):c.653-93G>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248387	NM_003059.3(SLC22A4):c.824+37=	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270019	NM_003059.3(SLC22A4):c.917T>C (p.Ile306Thr)	MIR3936HG, SLC22A4 (I306T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248012	NM_003059.3(SLC22A4):c.952-96A>G	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297325	NM_003059.3(SLC22A4):c.1046+5G>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272280	NM_003059.3(SLC22A4):c.1047-196G>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285781	NM_003059.3(SLC22A4):c.1182C>G (p.Thr394=)	MIR3936HG, SLC22A4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1273252	NM_003059.3(SLC22A4):c.1444+76T>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5750	NM_003059.3(SLC22A4):c.1507C>T (p.Leu503Phe)	MIR3936HG, SLC22A4 (L503F)	Single nucleotide variant (missense variant)	not provided	GBenign