C0393702[trait identifier] AND "GenomeConnect - Brain Gene Registry"[s - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444809	NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)	SCN2A (P70A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505111	NM_001040142.2(SCN2A):c.3671_3674dup (p.Ala1226fs)	SCN2A (A1226fs)	Microsatellite (frameshift variant)	West syndrome +8 more	Gnot provided
Select item 1327406	NM_003042.4(SLC6A1):c.104dup (p.Lys36fs)	SLC6A1, SLC6A1-AS1 (K36fs)	Duplication (frameshift variant +1 more)	Myoclonic-astatic epilepsy	Gnot provided
Select item 449654	NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp)	SLC6A1, SLC6A1-AS1 (R44W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 422549	NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg)	SLC6A1, SLC6A1-AS1 (G75R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 1327407	NM_003042.4(SLC6A1):c.583C>T (p.Arg195Cys)	SLC6A1 (R17C +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 475488	NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)	SLC6A1 (L36fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 192372	NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)	SLC6A1 (A288V +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy +3 more	GPathogenic/Likely pathogenic
Select item 684489	NM_003042.4(SLC6A1):c.884C>T (p.Ser295Leu)	SLC6A1 (S117L +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 192369	NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)	SLC6A1 (G297R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 542198	NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)	SLC6A1 (A357V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2505096	NM_003042.4(SLC6A1):c.1084G>C (p.Gly362Arg)	SLC6A1 (G184R +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	Gnot provided
Select item 429293	NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)	SLC6A1 (G362R +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy +3 more	GPathogenic/Likely pathogenic
Select item 684497	NM_003042.4(SLC6A1):c.1222del (p.Leu408fs)	SLC6A1 (L288fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 475470	NM_003042.4(SLC6A1):c.1255del (p.Arg419fs)	SLC6A1 (R299fs +2 more)	Deletion (frameshift variant)	Myoclonic-atonic epilepsy	GPathogenic
Select item 1802516	NM_003042.4(SLC6A1):c.1527+2T>C	SLC6A1	Single nucleotide variant (splice donor variant)	Myoclonic-astatic epilepsy	Gnot provided