C0342708[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320836	NM_020686.5(ABAT):c.-150C>A	ABAT	Single nucleotide variant	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 884597	NM_020686.6(ABAT):c.-127C>G	ABAT	Single nucleotide variant (5 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 320837	NM_020686.6(ABAT):c.-107G>A	ABAT	Single nucleotide variant (5 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 320838	NM_020686.6(ABAT):c.-52G>T	ABAT	Single nucleotide variant (5 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 460325	NM_020686.6(ABAT):c.25C>T (p.Arg9Cys)	ABAT (R9C)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 320839	NM_020686.6(ABAT):c.26G>A (p.Arg9His)	ABAT (R9H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 281798	NM_020686.6(ABAT):c.30G>A (p.Leu10=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	ABAT-related condition +3 more	GBenign/Likely benign
Select item 235649	NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)	ABAT (R19C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500579	NM_020686.6(ABAT):c.109G>A (p.Val37Ile)	ABAT (V37I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 320840	NM_020686.6(ABAT):c.129G>A (p.Gly43=)	ABAT	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 320841	NM_020686.6(ABAT):c.167A>G (p.Gln56Arg)	ABAT (Q56R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 320842	NM_020686.6(ABAT):c.168+12A>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 885529	NM_020686.6(ABAT):c.168+13C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 320843	NM_020686.6(ABAT):c.169-5T>C	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 320844	NM_020686.6(ABAT):c.267C>T (p.Asp89=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 886554	NM_020686.6(ABAT):c.285T>C (p.Asp95=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 320845	NM_020686.6(ABAT):c.309C>T (p.Val103=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321068	NM_020686.6(ABAT):c.317-5C>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 321069	NM_020686.6(ABAT):c.366+11G>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 887435	NM_020686.6(ABAT):c.387C>T (p.Pro129=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 321070	NM_020686.6(ABAT):c.419T>C (p.Val140Ala)	ABAT (V140A +3 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321071	NM_020686.6(ABAT):c.448-15T>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321074	NM_020686.6(ABAT):c.540+14CA[14]	ABAT	Microsatellite (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 321073	NM_020686.6(ABAT):c.540+14CA[13]	ABAT	Microsatellite (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 321072	NM_020686.6(ABAT):c.540+14CA[12]	ABAT	Microsatellite (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign/Likely benign
Select item 321075	NM_020686.6(ABAT):c.555G>A (p.Gly185=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 321076	NM_020686.6(ABAT):c.561G>C (p.Arg187Ser)	ABAT (R187S +4 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 887620	NM_020686.6(ABAT):c.592A>G (p.Met198Val)	ABAT (M198V +4 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 235392	NM_020686.6(ABAT):c.603+3G>A	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 887621	NM_020686.6(ABAT):c.603+6T>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 283525	NM_020686.6(ABAT):c.641T>C (p.Met214Thr)	ABAT (M214T +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 321077	NM_020686.6(ABAT):c.645C>A (p.Gly215=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 321078	NM_020686.6(ABAT):c.667+7_667+8dup	ABAT	Duplication (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 193917	NM_020686.6(ABAT):c.684G>A (p.Thr228=)	ABAT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 321079	NM_020686.6(ABAT):c.708C>T (p.Ile236=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 193919	NM_020686.6(ABAT):c.816+7C>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +2 more	GBenign/Likely benign
Select item 884468	NM_020686.6(ABAT):c.830T>C (p.Ile277Thr)	ABAT (I277T +6 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321080	NM_020686.6(ABAT):c.864C>T (p.Ala288=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 884469	NM_020686.6(ABAT):c.916G>A (p.Asp306Asn)	ABAT (D306N +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321081	NM_020686.6(ABAT):c.957T>G (p.His319Gln)	ABAT (H319Q +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 460331	NM_020686.6(ABAT):c.978C>T (p.Asp326=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 321082	NM_020686.6(ABAT):c.984C>A (p.Val328=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 321083	NM_020686.6(ABAT):c.1054G>A (p.Val352Met)	ABAT (V352M +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 321084	NM_020686.6(ABAT):c.1123-15C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 885406	NM_020686.6(ABAT):c.1123-14G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 885407	NM_020686.6(ABAT):c.1140C>T (p.Asn380=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 321085	NM_020686.6(ABAT):c.1147C>T (p.Leu383=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 321086	NM_020686.6(ABAT):c.1158G>A (p.Pro386=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 321087	NM_020686.6(ABAT):c.1269+4A>C	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 321088	NM_020686.6(ABAT):c.1270-4A>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321089	NM_020686.6(ABAT):c.1270G>A (p.Ala424Thr)	ABAT (A424T +7 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321090	NM_020686.6(ABAT):c.1381+9T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 887491	NM_020686.6(ABAT):c.1389G>A (p.Val463=)	ABAT (C426Y +1 more)	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 887492	NM_020686.6(ABAT):c.1431G>A (p.Thr477=)	ABAT (R440H +1 more)	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 321091	NM_020686.6(ABAT):c.1452C>T (p.His484=)	ABAT (T447M +1 more)	Single nucleotide variant (synonymous variant +1 more)	ABAT-related condition +2 more	GBenign
Select item 887493	NM_020686.6(ABAT):c.*31C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 887494	NM_020686.6(ABAT):c.*32G>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321092	NM_020686.6(ABAT):c.*99G>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321093	NM_020686.6(ABAT):c.*165A>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 887484	NM_020686.6(ABAT):c.*204A>G	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321094	NM_020686.6(ABAT):c.*242G>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321095	NM_020686.6(ABAT):c.*244C>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321096	NM_020686.6(ABAT):c.*258G>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321097	NM_020686.6(ABAT):c.*259G>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 887679	NM_020686.6(ABAT):c.*283T>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321098	NM_020686.6(ABAT):c.*298C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 884531	NM_020686.6(ABAT):c.*316A>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321099	NM_020686.6(ABAT):c.*318T>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 884532	NM_020686.6(ABAT):c.*416C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 884533	NM_020686.6(ABAT):c.*426C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321100	NM_020686.6(ABAT):c.*430C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 884534	NM_020686.6(ABAT):c.*435G>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321101	NM_020686.6(ABAT):c.*476T>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321102	NM_020686.6(ABAT):c.*479C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321103	NM_020686.6(ABAT):c.*493C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321104	NM_020686.6(ABAT):c.*512G>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 885468	NM_020686.6(ABAT):c.*539C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 321105	NM_020686.6(ABAT):c.*571A>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321106	NM_020686.6(ABAT):c.*574A>G	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 885469	NM_020686.6(ABAT):c.*578G>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 885470	NM_020686.6(ABAT):c.*717G>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321107	NM_020686.6(ABAT):c.*915C>G	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321108	NM_020686.6(ABAT):c.*942C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 886489	NM_020686.6(ABAT):c.*959T>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 886490	NM_020686.6(ABAT):c.*989T>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 321109	NM_020686.6(ABAT):c.*990G>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 886491	NM_020686.6(ABAT):c.*1051C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 886492	NM_020686.6(ABAT):c.*1075C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 321110	NM_020686.6(ABAT):c.*1110A>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321111	NM_020686.6(ABAT):c.*1131G>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321112	NM_020686.6(ABAT):c.*1133G>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 321113	NM_020686.6(ABAT):c.*1142G>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 887740	NM_020686.6(ABAT):c.*1193G>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321114	NM_020686.6(ABAT):c.*1202G>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 321115	NM_020686.6(ABAT):c.*1210T>C	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 887741	NM_020686.6(ABAT):c.*1311C>A	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 321116	NM_020686.6(ABAT):c.*1319C>G	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321117	NM_020686.6(ABAT):c.*1333A>G	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 884598	NM_020686.6(ABAT):c.*1393C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 321118	NM_020686.6(ABAT):c.*1405C>T	ABAT	Single nucleotide variant (3 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign

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