"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC6A1-AS - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546929	NM_003042.4(SLC6A1):c.-5G>A	SLC6A1, SLC6A1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 542214	NM_003042.4(SLC6A1):c.6G>A (p.Ala2=)	SLC6A1-AS1, SLC6A1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 475481	NM_003042.4(SLC6A1):c.45C>T (p.Thr15=)	SLC6A1-AS1, SLC6A1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy +3 more	GLikely benign
Select item 2634574	NM_003042.4(SLC6A1):c.85A>G (p.Thr29Ala)	SLC6A1, SLC6A1-AS1 (T29A)	Single nucleotide variant (missense variant +1 more)	SLC6A1-related disorder	GUncertain significance
Select item 2633957	NM_003042.4(SLC6A1):c.99G>T (p.Lys33Asn)	SLC6A1-AS1, SLC6A1 (K33N)	Single nucleotide variant (missense variant +1 more)	SLC6A1-related disorder	GUncertain significance
Select item 475471	NM_003042.4(SLC6A1):c.138G>A (p.Thr46=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy +3 more	GBenign
Select item 1157523	NM_003042.4(SLC6A1):c.258T>C (p.Tyr86=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +2 more)	SLC6A1-related disorder +1 more	GLikely benign
Select item 851177	NM_003042.4(SLC6A1):c.313G>T (p.Gly105Cys)	SLC6A1, SLC6A1-AS1 (G105C)	Single nucleotide variant (missense variant +2 more)	Myoclonic-atonic epilepsy +1 more	GUncertain significance
Select item 572893	NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg)	SLC6A1, SLC6A1-AS1 (G111R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1083485	NM_003042.4(SLC6A1):c.378C>T (p.Gly126=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy +2 more	GLikely benign
Select item 475480	NM_003042.4(SLC6A1):c.411C>T (p.Asn137=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy +3 more	GBenign
Select item 978926	NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys)	SLC6A1-AS1, SLC6A1 (Y140C +1 more)	Single nucleotide variant (missense variant +1 more)	SLC6A1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2889713	NM_003042.4(SLC6A1):c.423C>T (p.Ile141=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	SLC6A1-related disorder +1 more	GLikely benign
Select item 3029016	NM_003042.4(SLC6A1):c.426C>T (p.Val142=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	SLC6A1-related disorder	GLikely benign