"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1296999	NM_003042.4(SLC6A1):c.182C>T (p.Ala61Val)	SLC6A1, SLC6A1-AS1 (A61V)	Single nucleotide variant (missense variant +1 more)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 2664089	NM_003042.4(SLC6A1):c.336del (p.Gly112_Leu113insTer)	SLC6A1, SLC6A1-AS1	Deletion (frameshift variant +2 more)	Myoclonic-atonic epilepsy	GPathogenic
Select item 2627574	NM_003042.4(SLC6A1):c.362del (p.Met121fs)	SLC6A1, SLC6A1-AS1 (M121fs +1 more)	Deletion (frameshift variant +2 more)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 1297000	NM_003042.4(SLC6A1):c.583C>A (p.Arg195Ser)	SLC6A1 (R17S +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 976262	NM_003042.4(SLC6A1):c.622G>C (p.Gly208Arg)	SLC6A1 (G208R +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 982839	NM_003042.4(SLC6A1):c.866C>T (p.Ala289Val)	SLC6A1 (A111V +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 1707546	NM_003042.4(SLC6A1):c.888C>G (p.Tyr296Ter)	SLC6A1 (Y118* +2 more)	Single nucleotide variant (nonsense)	Myoclonic-astatic epilepsy	GPathogenic
Select item 976158	NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr)	SLC6A1 (A127T +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 432150	NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)	SLC6A1 (G307R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2430275	NM_003042.4(SLC6A1):c.953G>T (p.Arg318Met)	SLC6A1 (R140M +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 1299344	NM_003042.4(SLC6A1):c.1070C>A (p.Ala357Glu)	SLC6A1 (A179E +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 429293	NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)	SLC6A1 (G362R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1299343	NM_003042.4(SLC6A1):c.1191+1G>A	SLC6A1	Single nucleotide variant (splice donor variant)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 1679152	NM_003042.4(SLC6A1):c.1307T>A (p.Leu436His)	SLC6A1 (L258H +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 280932	NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)	SLC6A1 (G550R +2 more)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GConflicting classifications of pathogenicity
Select item 2580292	GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1	ATG7, ATP2B2 +16 more	Copy number loss	See cases	GPathogenic