"GeneDx"[submitter] AND "SLC12A5"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1296825	NC_000020.11:g.46021442ATGA[5]	SLC12A5, SLC12A5-AS1	Microsatellite	not provided	GBenign
Select item 1260003	NR_147699.1(SLC12A5-AS1):n.395T>A	LOC130065979, SLC12A5 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1183011	NM_001134771.2(SLC12A5):c.121+293A>G	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283605	NM_020708.5(SLC12A5):c.52+261G>A	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245054	NM_020708.5(SLC12A5):c.53-112T>C	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260076	NM_020708.5(SLC12A5):c.279+39C>T	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274178	NM_020708.5(SLC12A5):c.280-45C>T	SLC12A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 475656	NM_020708.5(SLC12A5):c.355C>A (p.Arg119=)	SLC12A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1248198	NM_020708.5(SLC12A5):c.427-285G>A	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 963985	NM_020708.5(SLC12A5):c.428C>T (p.Thr143Met)	SLC12A5 (T143M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 475658	NM_020708.5(SLC12A5):c.534T>C (p.Gly178=)	SLC12A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1314970	NM_020708.5(SLC12A5):c.559G>T (p.Gly187Cys)	SLC12A5 (G187C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452646	NM_020708.5(SLC12A5):c.692G>A (p.Arg231His)	SLC12A5 (R231H +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 14 +2 more	GUncertain significance
Select item 1305509	NM_020708.5(SLC12A5):c.983A>G (p.Asn328Ser)	SLC12A5 (N328S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 392601	NM_020708.5(SLC12A5):c.1006A>G (p.Thr336Ala)	SLC12A5 (T336A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475640	NM_020708.5(SLC12A5):c.1155C>T (p.Ile385=)	SLC12A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1281470	NM_020708.5(SLC12A5):c.1570-316del	SLC12A5	Deletion (intron variant)	not provided	GBenign
Select item 1278132	NM_020708.5(SLC12A5):c.1570-234C>T	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392106	NM_020708.5(SLC12A5):c.1645A>G (p.Ile549Val)	SLC12A5 (I549V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308278	NM_020708.5(SLC12A5):c.1688+4C>T	SLC12A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1179801	NM_020708.5(SLC12A5):c.1688+108A>C	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275432	NM_020708.5(SLC12A5):c.1787+61T>C	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253299	NM_020708.5(SLC12A5):c.2788-263T>A	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 23