Related gene-specific medical variations for Gene (Select 2554) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361733	NM_001127644.2(GABRA1):c.202G>A (p.Val68Met)	GABRA1 (V68M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065400	NM_001127644.2(GABRA1):c.1235C>A (p.Thr412Asn)	GABRA1 (T412N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 2575932	NM_001127644.2(GABRA1):c.1003A>C (p.Asn335His)	GABRA1 (N335H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2573039	NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)	GABRA1 (P124L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GLikely pathogenic
Select item 2431996	NM_001127644.2(GABRA1):c.730T>C (p.Phe244Leu)	GABRA1 (F244L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 2431995	NM_001127644.2(GABRA1):c.71G>C (p.Arg24Thr)	GABRA1 (R24T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 2431994	NM_001127644.2(GABRA1):c.842C>A (p.Ala281Glu)	GABRA1 (A281E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 2431993	NM_001127644.2(GABRA1):c.187+8G>A	GABRA1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 1803030	NM_001127644.2(GABRA1):c.84G>T (p.Gln28His)	GABRA1 (Q28H)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GLikely pathogenic
Select item 1803029	NM_001127644.2(GABRA1):c.839C>T (p.Pro280Leu)	GABRA1 (P280L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GLikely pathogenic
Select item 1803028	NM_001127644.2(GABRA1):c.134T>C (p.Ile45Thr)	GABRA1 (I45T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GLikely pathogenic
Select item 1342612	NM_001127644.2(GABRA1):c.586T>C (p.Tyr196His)	GABRA1 (Y196H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 994885	NM_001127644.2(GABRA1):c.1283C>T (p.Pro428Leu)	GABRA1 (P428L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816609	GRCh37/hg19 5q34(chr5:161249860-161316596)x1	GABRA1	Copy number loss	not provided	GUncertain significance
Select item 809835	NM_001127644.2(GABRA1):c.499C>T (p.Pro167Ser)	GABRA1 (P167S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445414	NM_001127644.2(GABRA1):c.560-20T>C	GABRA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 443198	GRCh37/hg19 5q34(chr5:161247252-161321960)x3	GABRA1	Copy number gain	See cases	GLikely benign
Select item 127231	NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC	GABRA1	Insertion	Epilepsy, idiopathic generalized, susceptibility to, 13	Grisk factor