ClinVar for MedGen (Select 1633749) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664175	NM_005458.8(GABBR2):c.2527T>G (p.Phe843Val)	GABBR2 (F843V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GUncertain significance
Select item 2476373	NM_005458.8(GABBR2):c.2777G>A (p.Arg926His)	GABBR2 (R926H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GUncertain significance
Select item 2444365	NM_005458.8(GABBR2):c.72_73insACCATGGTTCAGCCACATCTGTCACTTGCCAGTATTGGTACGCATTAAAGTAACTGGTCTGAAACGTTCTATCCAAGAACGCTTGAACTTCCAAGTTACTAATGAAGTAATTCAAC (p.Leu25delinsThrMetValGlnProHisLeuSerLeuAlaSerIleGlyThrHisTer)	GABBR2	Insertion (nonsense)	Developmental and epileptic encephalopathy, 59	GLikely pathogenic
Select item 2430201	NM_005458.8(GABBR2):c.2072A>G (p.Tyr691Cys)	GABBR2 (Y691C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GLikely pathogenic
Select item 2004414	NM_005458.8(GABBR2):c.1000-3C>T	GABBR2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with poor language and loss of hand skills +2 more	GConflicting classifications of pathogenicity
Select item 1709247	NM_005458.8(GABBR2):c.2206C>T (p.Leu736Phe)	GABBR2 (L736F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GUncertain significance
Select item 1709059	NM_005458.8(GABBR2):c.2195G>T (p.Ser732Ile)	GABBR2 (S732I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GUncertain significance
Select item 1708975	NM_005458.8(GABBR2):c.1065C>G (p.His355Gln)	GABBR2 (H355Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GUncertain significance
Select item 1708095	NM_005458.8(GABBR2):c.1684G>A (p.Val562Met)	GABBR2 (V562M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GLikely benign
Select item 1691275	NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn)	GABBR2 (S695N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1679636	NM_005458.8(GABBR2):c.*1906T>C	GABBR2	Single nucleotide variant (3 prime UTR variant)	Neurodevelopmental disorder with poor language and loss of hand skills +1 more	GUncertain significance
Select item 1496079	NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys)	GABBR2 (G41C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +3 more	GUncertain significance
Select item 1369304	NM_005458.8(GABBR2):c.2360G>A (p.Arg787His)	GABBR2 (R787H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59 +1 more	GUncertain significance
Select item 1325607	NM_005458.8(GABBR2):c.166C>G (p.Leu56Val)	GABBR2 (L56V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GUncertain significance
Select item 1268189	NM_005458.8(GABBR2):c.2005-22C>T	GABBR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1167958	NM_005458.8(GABBR2):c.375T>G (p.Pro125=)	GABBR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1167956	NM_005458.8(GABBR2):c.2052C>T (p.Pro684=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +3 more	GBenign
Select item 1167955	NM_005458.8(GABBR2):c.2413-4G>C	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy +3 more	GBenign
Select item 1023217	NM_005458.8(GABBR2):c.1662+1G>A	GABBR2	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 1015213	NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln)	GABBR2 (R44Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills +4 more	GUncertain significance
Select item 964550	NM_005458.8(GABBR2):c.2752_2763del (p.914CVSP[1])	GABBR2	Deletion (inframe_deletion)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 964522	NM_005458.8(GABBR2):c.2412+3A>G	GABBR2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with poor language and loss of hand skills +3 more	GConflicting classifications of pathogenicity
Select item 843039	NM_005458.8(GABBR2):c.68T>C (p.Leu23Pro)	GABBR2 (L23P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 833649	NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly)	GABBR2 (S913G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59 +2 more	GConflicting classifications of pathogenicity
Select item 571315	NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu)	GABBR2 (P19L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59 +2 more	GConflicting classifications of pathogenicity
Select item 496592	NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr)	GABBR2 (A707T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GLikely pathogenic
Select item 496590	NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn)	GABBR2 (I705N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GPathogenic
Select item 496589	NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile)	GABBR2 (S695I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GPathogenic
Select item 496588	NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)	GABBR2 (G693W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59 +1 more	GPathogenic/Likely pathogenic

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Items: 29