C4013473[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1510625	NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys)	GABRA1 (R2K)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely pathogenic
Select item 1053587	NM_001127644.2(GABRA1):c.8A>G (p.Lys3Arg)	GABRA1 (K3R)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +2 more	GBenign
Select item 205514	NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn)	GABRA1 (S4N)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GBenign/Likely benign
Select item 1482052	NM_001127644.2(GABRA1):c.13C>T (p.Pro5Ser)	GABRA1 (P5S)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +2 more	GUncertain significance
Select item 2087365	NM_001127644.2(GABRA1):c.20T>G (p.Leu7Arg)	GABRA1 (L7R)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 196289	NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu)	GABRA1 (D9E)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1170287	NM_001127644.2(GABRA1):c.28T>C (p.Cys10Arg)	GABRA1 (C10R)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +2 more	GBenign
Select item 1114069	NM_001127644.2(GABRA1):c.32T>C (p.Leu11Pro)	GABRA1 (L11P)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GLikely benign
Select item 759315	NM_001127644.2(GABRA1):c.33T>C (p.Leu11=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 2011538	NM_001127644.2(GABRA1):c.35G>T (p.Trp12Leu)	GABRA1 (W12L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GUncertain significance
Select item 2924396	NM_001127644.2(GABRA1):c.37G>A (p.Ala13Thr)	GABRA1 (A13T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 809834	NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)	GABRA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2945986	NM_001127644.2(GABRA1):c.42G>T (p.Trp14Cys)	GABRA1 (W14C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 468876	NM_001127644.2(GABRA1):c.48C>T (p.Leu16=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 546090	NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile)	GABRA1 (T20I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2923865	NM_001127644.2(GABRA1):c.67G>A (p.Gly23Arg)	GABRA1 (G23R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 969559	NM_001127644.2(GABRA1):c.74+3_74+4delinsAT	GABRA1	Indel (intron variant)	Epilepsy, childhood absence 4 +2 more	GUncertain significance
Select item 2931664	NM_001127644.2(GABRA1):c.74+5G>A	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1061852	NM_001127644.2(GABRA1):c.74+6G>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2078149	NM_001127644.2(GABRA1):c.74+9A>C	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 129124	NM_001127644.2(GABRA1):c.74+9A>T	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +4 more	GBenign/Likely benign
Select item 1570870	NM_001127644.2(GABRA1):c.74+10C>G	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 706522	NM_001127644.2(GABRA1):c.74+10C>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2933433	NM_001127644.2(GABRA1):c.74+16del	GABRA1	Deletion (intron variant)	Idiopathic generalized epilepsy +2 more	GBenign
Select item 1980366	NM_001127644.2(GABRA1):c.74+13T>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2177868	NM_001127644.2(GABRA1):c.74+16T>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 385750	NM_001127644.2(GABRA1):c.74+19A>G	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GBenign/Likely benign
Select item 2103100	NM_001127644.2(GABRA1):c.75-18C>G	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 2147428	NM_001127644.2(GABRA1):c.75-17T>G	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1957891	NM_001127644.2(GABRA1):c.75-14_75-13del	GABRA1	Deletion (intron variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 1964237	NM_001127644.2(GABRA1):c.75-13T>C	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 1243206	NM_001127644.2(GABRA1):c.75-4dup	GABRA1	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 2147942	NM_001127644.2(GABRA1):c.75-11T>C	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2954435	NM_001127644.2(GABRA1):c.75-8T>G	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2051568	NM_001127644.2(GABRA1):c.75-7T>C	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 579311	NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)	GABRA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 377902	NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=)	GABRA1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2951351	NM_001127644.2(GABRA1):c.79G>A (p.Gly27Arg)	GABRA1 (G27R)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2950849	NM_001127644.2(GABRA1):c.85C>A (p.Pro29Thr)	GABRA1 (P29T)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 197167	NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)	GABRA1 (P29S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19 +4 more	GConflicting classifications of pathogenicity
Select item 205529	NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)	GABRA1 (P29L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 381108	NM_001127644.2(GABRA1):c.87G>A (p.Pro29=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +4 more	GLikely benign
Select item 906545	NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe)	GABRA1 (L31F)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 536749	NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys)	GABRA1 (Q32K)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +3 more	GUncertain significance
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 129125	NM_001127644.2(GABRA1):c.96A>G (p.Gln32=)	GABRA1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2947383	NM_001127644.2(GABRA1):c.97G>A (p.Asp33Asn)	GABRA1 (D33N)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1944676	NM_001127644.2(GABRA1):c.103C>A (p.Leu35Ile)	GABRA1 (L35I)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GUncertain significance
Select item 1066045	NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu)	GABRA1 (F42L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely pathogenic
Select item 2100315	NM_001127644.2(GABRA1):c.138G>T (p.Leu46Phe)	GABRA1 (L46F)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 1666771	NM_001127644.2(GABRA1):c.147C>A (p.Leu49=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1124114	NM_001127644.2(GABRA1):c.148C>T (p.Leu50=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 468873	NM_001127644.2(GABRA1):c.150A>G (p.Leu50=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2031007	NM_001127644.2(GABRA1):c.153T>C (p.Asp51=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 129123	NM_001127644.2(GABRA1):c.156T>C (p.Gly52=)	GABRA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign
Select item 2036958	NM_001127644.2(GABRA1):c.167G>A (p.Arg56His)	GABRA1 (R56H)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 423472	NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu)	GABRA1 (P59L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1555295	NM_001127644.2(GABRA1):c.187+5G>T	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1966057	NM_001127644.2(GABRA1):c.187+16G>T	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2932748	NM_001127644.2(GABRA1):c.188-19C>T	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2020369	NM_001127644.2(GABRA1):c.188-15T>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2088653	NM_001127644.2(GABRA1):c.188-14T>C	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1943133	NM_001127644.2(GABRA1):c.188-12C>G	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 2941410	NM_001127644.2(GABRA1):c.188-9C>A	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 452188	NM_001127644.2(GABRA1):c.188A>C (p.Glu63Ala)	GABRA1 (E63A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 951092	NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys)	GABRA1 (R64C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1123486	NM_001127644.2(GABRA1):c.197C>A (p.Thr66Asn)	GABRA1 (T66N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19 +3 more	GConflicting classifications of pathogenicity
Select item 518109	NM_001127644.2(GABRA1):c.198C>T (p.Thr66=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GLikely benign
Select item 1720708	NM_001127644.2(GABRA1):c.200A>T (p.Glu67Val)	GABRA1 (E67V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1088529	NM_001127644.2(GABRA1):c.201A>G (p.Glu67=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 1715983	NM_001127644.2(GABRA1):c.214A>C (p.Ile72Leu)	GABRA1 (I72L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2946934	NM_001127644.2(GABRA1):c.216C>G (p.Ile72Met)	GABRA1 (I72M)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2181400	NM_001127644.2(GABRA1):c.216C>A (p.Ile72=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 468874	NM_001127644.2(GABRA1):c.216C>T (p.Ile72=)	GABRA1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1022351	NM_001127644.2(GABRA1):c.217T>A (p.Phe73Ile)	GABRA1 (F73I)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 1157708	NM_001127644.2(GABRA1):c.219C>T (p.Phe73=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 943742	NM_001127644.2(GABRA1):c.226A>G (p.Ser76Gly)	GABRA1 (S76G)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2953336	NM_001127644.2(GABRA1):c.227G>A (p.Ser76Asn)	GABRA1 (S76N)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 590144	NM_001127644.2(GABRA1):c.231C>T (p.Phe77=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +4 more	GLikely benign
Select item 625850	NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg)	GABRA1 (G78R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 1609477	NM_001127644.2(GABRA1):c.235C>A (p.Pro79Thr)	GABRA1 (P79T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GBenign
Select item 742645	NM_001127644.2(GABRA1):c.237C>T (p.Pro79=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 1713908	NM_001127644.2(GABRA1):c.250G>C (p.Asp84His)	GABRA1 (D84H)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2950941	NM_001127644.2(GABRA1):c.253A>G (p.Met85Val)	GABRA1 (M85V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2142266	NM_001127644.2(GABRA1):c.255+8G>A	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2940329	NM_001127644.2(GABRA1):c.255+9A>T	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2930299	NM_001127644.2(GABRA1):c.255+10C>A	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 137408	NM_001127644.2(GABRA1):c.255+12C>T	GABRA1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1672046	NM_001127644.2(GABRA1):c.256-9A>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2931571	NM_001127644.2(GABRA1):c.256-4C>T	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 422478	NM_001127644.2(GABRA1):c.256-2A>G	GABRA1	Single nucleotide variant (splice acceptor variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GLikely pathogenic
Select item 2059505	NM_001127644.2(GABRA1):c.258A>G (p.Glu86=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 390316	NM_001127644.2(GABRA1):c.261T>C (p.Tyr87=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GLikely benign
Select item 834116	NM_001127644.2(GABRA1):c.268G>T (p.Asp90Tyr)	GABRA1 (D90Y)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1978165	NM_001127644.2(GABRA1):c.269A>G (p.Asp90Gly)	GABRA1 (D90G)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1506120	NM_001127644.2(GABRA1):c.275T>C (p.Phe92Ser)	GABRA1 (F92S)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GPathogenic
Select item 1796428	NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)	GABRA1 (R94H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2948205	NM_001127644.2(GABRA1):c.287G>T (p.Ser96Ile)	GABRA1 (S96I)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2933602	NM_001127644.2(GABRA1):c.288C>T (p.Ser96=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GLikely benign
Select item 938214	NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly)	GABRA1 (D99G)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GConflicting classifications of pathogenicity

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