"Revvity Omics, Revvity"[submitter] AND "KCNMA1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 971401	NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln)	KCNMA1 (R1170Q +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1712234	NM_001161352.2(KCNMA1):c.3625A>G (p.Ile1209Val)	KCNMA1 (I1000V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 642438	NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp)	KCNMA1 (R1128W +9 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2433009	NM_001161352.2(KCNMA1):c.3147+8A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2433008	NM_001161352.2(KCNMA1):c.2837C>T (p.Ala946Val)	KCNMA1, KCNMA1-AS1 (A737V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689290	NM_001161352.2(KCNMA1):c.2663G>A (p.Arg888Gln)	KCNMA1, KCNMA1-AS1 (R679Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433007	NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)	KCNMA1, KCNMA1-AS1 (N571S +6 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 1089077	NM_001161352.2(KCNMA1):c.1928+10C>T	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GLikely benign
Select item 1390435	NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly)	KCNMA1 (S554G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689291	NM_001161352.2(KCNMA1):c.1675A>G (p.Ile559Val)	KCNMA1 (I379V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433005	NM_001161352.2(KCNMA1):c.1595C>T (p.Ala532Val)	KCNMA1 (A352V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521128	NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)	KCNMA1 (G375R +2 more)	Single nucleotide variant (missense variant)	Liang-Wang syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2433006	NM_001161352.2(KCNMA1):c.358C>T (p.His120Tyr)	KCNMA1 (H120Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287558	NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg)	KCNMA1 (H30R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433010	NM_001161352.2(KCNMA1):c.36CGG[5] (p.Gly19_Gly20del)	KCNMA1	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 655940	NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del)	KCNMA1	Deletion (inframe_deletion)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 2180991	NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly)	KCNMA1	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 532940	NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)	KCNMA1 (G6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 300975	NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer)	KCNMA1	Insertion (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity