"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GABRA1"[ge - ClinVar

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

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352580	NM_000806.5(GABRA1):c.-442dup	GABRA1	Duplication (5 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 352581	NM_000806.5(GABRA1):c.-449G>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +1 more	GConflicting classifications of pathogenicity
Select item 907501	NM_000806.5(GABRA1):c.-447G>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +1 more	GConflicting classifications of pathogenicity
Select item 352584	NM_000806.5(GABRA1):c.-438del	GABRA1	Deletion (5 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 352593	NM_001127644.2(GABRA1):c.-117GACTCG[3]	GABRA1	Microsatellite (5 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1701491	NM_001127644.2(GABRA1):c.-113C>T	GABRA1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 809834	NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)	GABRA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 579311	NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)	GABRA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 205529	NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)	GABRA1 (P29L)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 381108	NM_001127644.2(GABRA1):c.87G>A (p.Pro29=)	GABRA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 590144	NM_001127644.2(GABRA1):c.231C>T (p.Phe77=)	GABRA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 1796428	NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)	GABRA1 (R94H)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +4 more	GUncertain significance
Select item 127074	NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)	GABRA1 (R112Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 373654	NM_001127644.2(GABRA1):c.378A>G (p.Thr126=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +3 more	GLikely benign
Select item 588228	NM_001127644.2(GABRA1):c.384C>T (p.Phe128=)	GABRA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 137409	NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)	GABRA1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 137410	NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)	GABRA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 3026633	NM_001127644.2(GABRA1):c.614C>T (p.Ser205Leu)	GABRA1 (S205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137411	NM_001127644.2(GABRA1):c.633T>C (p.Asp211=)	GABRA1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 265162	NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)	GABRA1 (R214H)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +4 more	GPathogenic/Likely pathogenic
Select item 425363	NM_001127644.2(GABRA1):c.829G>C (p.Glu277Gln)	GABRA1 (E277Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853851	NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala)	GABRA1 (T289A)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 379161	NM_001127644.2(GABRA1):c.873C>T (p.Leu291=)	GABRA1	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 205524	NM_001127644.2(GABRA1):c.881C>T (p.Thr294Ile)	GABRA1 (T294I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 137412	NM_001127644.2(GABRA1):c.954C>T (p.Ala318=)	GABRA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 757342	NM_001127644.2(GABRA1):c.966C>T (p.Ala322=)	GABRA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 916347	NM_001127644.2(GABRA1):c.991T>A (p.Phe331Ile)	GABRA1 (F331I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 536750	NM_001127644.2(GABRA1):c.1104C>T (p.Tyr368=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +4 more	GLikely benign
Select item 3027323	NM_001127644.2(GABRA1):c.1105G>T (p.Ala369Ser)	GABRA1 (A369S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 137414	NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)	GABRA1	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2656020	NM_001127644.2(GABRA1):c.1159G>A (p.Ala387Thr)	GABRA1 (A387T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 453024	NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser)	GABRA1 (T412S)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +3 more	GUncertain significance
Select item 1176496	NM_001127644.2(GABRA1):c.1280T>C (p.Phe427Ser)	GABRA1 (F427S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137415	NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=)	GABRA1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2578987	NM_001127644.2(GABRA1):c.1292T>C (p.Phe431Ser)	GABRA1 (F431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93432	NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)	GABRA1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 137416	NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=)	GABRA1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 352609	NM_001127644.2(GABRA1):c.*771C>T	GABRA1	Single nucleotide variant (3 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +1 more	GConflicting classifications of pathogenicity
Select item 907625	NM_001127644.2(GABRA1):c.*988A>G	GABRA1	Single nucleotide variant (3 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +1 more	GConflicting classifications of pathogenicity
Select item 352612	NM_001127644.2(GABRA1):c.*1381T>C	GABRA1	Single nucleotide variant (3 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +1 more	GConflicting classifications of pathogenicity
Select item 352619	NM_001127644.2(GABRA1):c.*1752G>T	GABRA1	Single nucleotide variant (3 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +1 more	GConflicting classifications of pathogenicity
Select item 2571238	NM_001127644.2(GABRA1):c.*1823del	GABRA1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45