C0393702[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801934	NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)	SLC6A1, SLC6A1-AS1 (G11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 421676	NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg)	SLC6A1, SLC6A1-AS1 (Q106R)	Single nucleotide variant (missense variant +2 more)	Myoclonic-astatic epilepsy +1 more	GLikely pathogenic
Select item 1307944	NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)	SLC6A1, SLC6A1-AS1 (Y139C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 475488	NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)	SLC6A1 (L36fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1685444	NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro)	SLC6A1 (L149P +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 433100	NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)	SLC6A1 (R277H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 801935	NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del)	SLC6A1 (F116del +2 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1685445	NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del)	SLC6A1 (F208del +2 more)	Microsatellite (inframe_deletion)	Myoclonic-astatic epilepsy	GLikely pathogenic
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