"Baylor Genetics"[submitter] AND "GABRB3"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 839250	NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys)	GABRB3 (Y217C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43 +3 more	GPathogenic/Likely pathogenic
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 209156	NM_000814.6(GABRB3):c.695G>C (p.Arg232Pro)	GABRB3 (R232P +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5	GLikely pathogenic
Select item 1028380	NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro)	GABRB3 (T142P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 1028379	NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly)	GABRB3 (R95G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
Select item 2098861	NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)	GABRB3 (L52V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 43 +2 more	GPathogenic/Likely pathogenic
Select item 625833	GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)	ATP10A, CYFIP1 +26 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625832	GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)	ATP10A, CYFIP1 +26 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 625746	GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505)	ATP10A, GABRA5 +21 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625745	GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896)	APBA2, ATP10A +23 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625718	GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)	ATP10A, GABRA5 +21 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 625717	GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625716	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625715	GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432)	ATP10A, CYFIP1 +26 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625714	GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)	APBA2, ARHGAP11A +47 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625713	GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)	NIPA1, NIPA2 +27 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625712	GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)	APBA2, ARHGAP11B +44 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625711	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)	APBA2, ARHGAP11A +50 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625710	GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)	ATP10A, CYFIP1 +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625709	GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)	IPW, GABRG3 +37 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 209214	NC_000015.9:g.(?_23730704)_(28530182_?)del	PWRN2, OCA2 +21 more	Deletion	Angelman syndrome	GPathogenic

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Items: 21