ClinVar for MedGen (Select 816730) - ClinVar

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

Links from MedGen

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065400	NM_001127644.2(GABRA1):c.1235C>A (p.Thr412Asn)	GABRA1 (T412N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 2431996	NM_001127644.2(GABRA1):c.730T>C (p.Phe244Leu)	GABRA1 (F244L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 2431995	NM_001127644.2(GABRA1):c.71G>C (p.Arg24Thr)	GABRA1 (R24T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 2431994	NM_001127644.2(GABRA1):c.842C>A (p.Ala281Glu)	GABRA1 (A281E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 2431993	NM_001127644.2(GABRA1):c.187+8G>A	GABRA1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 1803975	NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)	GABRA1 (N216I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GLikely pathogenic
Select item 1803029	NM_001127644.2(GABRA1):c.839C>T (p.Pro280Leu)	GABRA1 (P280L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GLikely pathogenic
Select item 1801718	NM_001127644.2(GABRA1):c.269A>T (p.Asp90Val)	GABRA1 (D90V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GLikely pathogenic
Select item 1801345	NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)	GABRA1 (M263*)	Duplication (nonsense)	Epilepsy, idiopathic generalized, susceptibility to, 13 +1 more	GLikely pathogenic
Select item 1696503	NM_001127644.2(GABRA1):c.781T>C (p.Cys261Arg)	GABRA1 (C261R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19 +1 more	GUncertain significance
Select item 1378537	NM_001127644.2(GABRA1):c.955G>A (p.Val319Met)	GABRA1 (V319M)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1342612	NM_001127644.2(GABRA1):c.586T>C (p.Tyr196His)	GABRA1 (Y196H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 1333783	NM_001127643.2(GABRA1):c.-248+1G>T	GABRA1	Single nucleotide variant (intron variant +1 more)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 1333738	NM_001127644.2(GABRA1):c.1032G>A (p.Trp344Ter)	GABRA1 (W344*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 1329481	NM_001127644.2(GABRA1):c.1350A>T (p.Lys450Asn)	GABRA1 (K450N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 997693	NM_001127644.2(GABRA1):c.1015A>G (p.Lys339Glu)	GABRA1 (K339E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GPathogenic
Select item 992951	NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val)	GABRA1 (A332V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GPathogenic
Select item 985886	NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala)	GABRA1 (V270A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 982025	NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe)	GABRA1 (I255F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GLikely pathogenic
Select item 951254	NM_001127644.2(GABRA1):c.611G>A (p.Arg204His)	GABRA1 (R204H)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +3 more	GUncertain significance
Select item 930252	NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser)	GABRA1 (P370S)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +3 more	GUncertain significance
Select item 870352	NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)	GABRA1 (L215I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GLikely pathogenic
Select item 870210	NM_001127644.2(GABRA1):c.406G>T (p.Ala136Ser)	GABRA1 (A136S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 833861	NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val)	GABRA1 (L386V)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +5 more	GConflicting classifications of pathogenicity
Select item 813796	NM_001127644.2(GABRA1):c.787A>G (p.Met263Val)	GABRA1 (M263V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GPathogenic
Select item 807607	NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)	GABRA1 (R147Q)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 800850	NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu)	GABRA1 (S423L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 626110	NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu)	GABRA1 (G27E)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +1 more	GUncertain significance
Select item 568345	NM_001127644.2(GABRA1):c.869_888del (p.Val290fs)	GABRA1 (V290fs)	Deletion (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GPathogenic/Likely pathogenic
Select item 516091	NM_001127644.2(GABRA1):c.-258T>C	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 19 +1 more	GConflicting classifications of pathogenicity
Select item 468875	NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly)	GABRA1 (V162G)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GUncertain significance
Select item 430503	NM_001127644.2(GABRA1):c.859G>T (p.Val287Leu)	GABRA1 (V287L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19 +1 more	GPathogenic
Select item 424394	NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)	GABRA1 (E403Q)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +4 more	GUncertain significance
Select item 421667	NM_001127644.2(GABRA1):c.940G>A (p.Asp314Asn)	GABRA1 (D314N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 402327	NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile)	GABRA1 (M263I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GLikely pathogenic
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 265161	NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)	GABRA1 (R214C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 242830	NM_001127644.2(GABRA1):c.1200del (p.Lys401fs)	GABRA1 (K401fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 19	GPathogenic
Select item 224145	NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter)	GABRA1 (Q32*)	Single nucleotide variant (nonsense)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 217878	NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys)	GABRA1 (R301K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GPathogenic
Select item 205525	NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)	GABRA1 (T295I)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 205521	NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)	GABRA1 (L267I)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 197167	NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)	GABRA1 (P29S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +4 more	GConflicting classifications of pathogenicity
Select item 129123	NM_001127644.2(GABRA1):c.156T>C (p.Gly52=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +6 more	GBenign
Select item 127075	NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr)	GABRA1 (K306T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GPathogenic
Select item 127074	NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)	GABRA1 (R112Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 127073	NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser)	GABRA1 (G251S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GPathogenic
Select item 93431	NM_001127644.2(GABRA1):c.1059+15G>A	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +5 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 48