ClinVar for MedGen (Select 1680535) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663882	NM_198904.4(GABRG2):c.947C>A (p.Thr316Asn)	GABRG2 (T176N +8 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 74	Gnot provided
Select item 2627049	NM_198904.4(GABRG2):c.875T>C (p.Val292Ala)	GABRG2 (V152A +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 74	GLikely pathogenic
Select item 1803032	NM_198904.4(GABRG2):c.631+4A>G	GABRG2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 74	GLikely pathogenic
Select item 1709541	NM_198904.4(GABRG2):c.737_740del (p.Arg246fs)	GABRG2 (R106fs +6 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 74	GLikely pathogenic
Select item 1679139	NM_198904.4(GABRG2):c.416G>A (p.Ser139Asn)	GABRG2 (S110N +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 74	GUncertain significance
Select item 1341757	NM_198904.4(GABRG2):c.108-3373G>A	GABRG2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 74	GUncertain significance
Select item 1325835	NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val)	GABRG2 (A305V +13 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +2 more	GUncertain significance
Select item 1320172	NM_198904.4(GABRG2):c.666G>A (p.Trp222Ter)	GABRG2 (W127* +6 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 74	GLikely pathogenic
Select item 1309068	NM_198904.4(GABRG2):c.1403A>G (p.Tyr468Cys)	GABRG2 (Y320C +13 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 74 +1 more	GUncertain significance
Select item 1057064	NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn)	GABRG2 (S101N +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 74 +2 more	GUncertain significance
Select item 1028382	NM_198904.4(GABRG2):c.770-12G>A	GABRG2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 74	GUncertain significance
Select item 1028381	NM_198904.4(GABRG2):c.632-5G>A	GABRG2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 74	GUncertain significance
Select item 975991	NM_198903.2:c.-61_889+60del	GABRG2	Deletion	Developmental and epileptic encephalopathy, 74	GLikely pathogenic
Select item 934755	NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter)	GABRG2 (R82* +5 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 74 +3 more	GPathogenic
Select item 931825	NM_198904.4(GABRG2):c.787T>C (p.Ser263Pro)	GABRG2 (S168P +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 74	GUncertain significance
Select item 794672	NM_198904.4(GABRG2):c.1153-8C>G	GABRG2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 74 +2 more	GConflicting classifications of pathogenicity
Select item 626111	NM_198904.4(GABRG2):c.690C>A (p.Gly230=)	GABRG2	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 2 +2 more	GUncertain significance
Select item 625863	NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser)	GABRG2 (P282S +8 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 2 +2 more	GPathogenic
Select item 585903	NM_198904.4(GABRG2):c.631+1248A>G	GABRG2 (I215V)	Single nucleotide variant (intron variant +1 more)	Epilepsy, childhood absence 2 +2 more	GBenign
Select item 581040	NM_198904.4(GABRG2):c.353C>T (p.Ala118Val)	GABRG2 (A118V +4 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +3 more	GUncertain significance
Select item 521954	NM_198904.4(GABRG2):c.853C>G (p.Leu285Val)	GABRG2 (L285V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 408211	NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val)	GABRG2 (G354V +8 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 74 +2 more	GLikely pathogenic
Select item 205549	NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)	GABRG2 (R323W +8 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +4 more	GConflicting classifications of pathogenicity
Select item 205541	NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	GABRG2 (A106T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 60708	NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln)	GABRG2 (R323Q +8 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +3 more	GPathogenic

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Items: 25