ClinVar for MedGen (Select 1684869) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627066	NM_001161352.2(KCNMA1):c.1546C>G (p.His516Asp)	KCNMA1 (H336D +2 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 16	GUncertain significance
Select item 2500048	NM_001161352.2(KCNMA1):c.2484+1746C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome +3 more	GUncertain significance
Select item 2444543	NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)	KCNMA1, KCNMA1-AS1 (P1040R +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +2 more	GUncertain significance
Select item 1696560	NM_001161352.2(KCNMA1):c.379-51304del	KCNMA1	Deletion (intron variant)	Liang-Wang syndrome +3 more	GUncertain significance
Select item 1679731	NM_001161352.2(KCNMA1):c.379-114292C>G	KCNMA1	Single nucleotide variant (intron variant)	Liang-Wang syndrome +2 more	GUncertain significance
Select item 1342465	NM_001161352.2(KCNMA1):c.1332C>T (p.His444=)	KCNMA1	Single nucleotide variant (synonymous variant)	Cerebellar atrophy, developmental delay, and seizures +2 more	GConflicting classifications of pathogenicity
Select item 1341845	NM_001161352.2(KCNMA1):c.378+5538T>G	KCNMA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 16	GUncertain significance
Select item 1211802	NM_001161352.2(KCNMA1):c.1441-11C>T	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +4 more	GLikely benign
Select item 1008876	NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp)	KCNMA1 (R517W +3 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +3 more	GUncertain significance
Select item 983014	NM_001161352.2(KCNMA1):c.1127G>A (p.Gly376Glu)	KCNMA1 (G196E +2 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 16	GUncertain significance
Select item 638907	NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup)	KCNMA1	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 626124	NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg)	KCNMA1, KCNMA1-AS1 (K833R +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +3 more	GUncertain significance
Select item 581229	NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup)	KCNMA1	Microsatellite (inframe_insertion)	Generalized epilepsy-paroxysmal dyskinesia syndrome +4 more	GUncertain significance
Select item 532948	NM_001161352.2(KCNMA1):c.2484+7G>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +4 more	GBenign/Likely benign
Select item 464297	NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly)	KCNMA1	Indel (inframe_indel)	not specified +5 more	GUncertain significance
Select item 444227	NM_001161352.2(KCNMA1):c.2165C>T (p.Ser722Leu)	KCNMA1 (S722L)	Single nucleotide variant (missense variant +1 more)	Epilepsy, idiopathic generalized, susceptibility to, 16 +2 more	GUncertain significance
Select item 300971	NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala)	KCNMA1 (V61A)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +5 more	GUncertain significance
Select item 300962	NM_001161352.2(KCNMA1):c.1749+11G>A	KCNMA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 16 +4 more	GBenign/Likely benign