Related gene-specific medical variations for Gene (Select 2562) - ClinVar

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

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361190	NM_000814.6(GABRB3):c.767T>C (p.Leu256Pro)	GABRB3 (L171P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359062	NM_000814.6(GABRB3):c.845C>G (p.Thr282Ser)	GABRB3 (T197S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
Select item 3358979	NM_000814.6(GABRB3):c.880C>T (p.Arg294Trp)	GABRB3 (R209W +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5	GUncertain significance
Select item 3258097	NM_000814.6(GABRB3):c.728T>C (p.Ile243Thr)	GABRB3 (I158T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 3251936	NM_000814.6(GABRB3):c.76C>T (p.Gln26Ter)	GABRB3 (Q26*)	Single nucleotide variant (nonsense +2 more)	Developmental and epileptic encephalopathy, 43	GPathogenic
Select item 3243816	NC_000015.9:g.(?_26866441)_(27018109_?)dup	GABRB3	Duplication	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 3243815	NC_000015.9:g.(?_26792940)_(26828581_?)del	GABRB3	Deletion	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GPathogenic
Select item 3243813	NC_000015.9:g.(?_26792940)_(26866701_?)del	GABRB3	Deletion	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GPathogenic
Select item 3243812	NC_000015.9:g.(?_27017529)_(27018109_?)del	GABRB3	Deletion	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GPathogenic
Select item 3243811	NC_000015.9:g.(?_26792940)_(27018109_?)del	GABRB3	Deletion	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GPathogenic
Select item 3063392	GRCh37/hg19 15q12(chr15:26716284-27065938)x1	GABRB3	Copy number loss	not specified	GUncertain significance
Select item 3025521	NC_000015.10:g.26939427G>A	GABRA5, GABRB3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2645027	NC_000015.10:g.26939253C>T	GABRA5, GABRB3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2645023	NC_000015.10:g.26883159C>G	GABRA5, GABRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801424	NM_000814.6(GABRB3):c.240+8206_240+8254del	GABRB3	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1701763	NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe)	GABRB3 (S179F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43 +1 more	GUncertain significance
Select item 1694735	NC_000015.10:g.26939341T>C	GABRA5, GABRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977442	NM_021912.5(GABRB3):c.11G>T (p.Gly4Val)	GABRB3 (G4V)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 975243	NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser)	GABRB3 (P216S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GPathogenic
Select item 930710	NM_000814.6(GABRB3):c.461+15T>G	GABRB3	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 786628	NM_000810.4(GABRA5):c.610G>A (p.Val204Ile)	GABRA5, GABRB3 (V204I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730013	NM_000810.4(GABRA5):c.222G>A (p.Gln74=)	GABRA5, GABRB3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 548619	NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala)	GABRB3 (T196A +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 445708	NM_000814.6(GABRB3):c.241-20887TA[5]	GABRB3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 442631	GRCh37/hg19 15q12(chr15:26179690-26934492)x3	GABRB3	Copy number gain	See cases	GLikely benign
Select item 393933	GRCh37/hg19 15q12(chr15:26906501-26970177)x1	GABRB3	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26