23287[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60276	GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3	CD177, ETHE1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 145905	GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3	CD177, ETHE1 +14 more	Copy number gain	See cases	GLikely benign
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	CADM4, CD177 +55 more	Copy number gain	See cases	GUncertain significance
Select item 894208	NM_014297.5(ETHE1):c.*92A>C	ETHE1	Single nucleotide variant (3 prime UTR variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 329439	NM_014297.5(ETHE1):c.*55G>T	ETHE1	Single nucleotide variant (3 prime UTR variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 894209	NM_014297.5(ETHE1):c.*48G>A	ETHE1	Single nucleotide variant (3 prime UTR variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 329440	NM_014297.5(ETHE1):c.*31A>G	ETHE1	Single nucleotide variant (3 prime UTR variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 646397	NC_000019.10:g.(?_43506840)_(43511576_?)del	ETHE1	Deletion	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2194552	NM_014297.5(ETHE1):c.762C>T (p.Ala254=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1615457	NM_014297.5(ETHE1):c.762C>A (p.Ala254=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 658833	NM_014297.5(ETHE1):c.761C>T (p.Ala254Val)	ETHE1 (A131V +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance FDA Recognized database
Select item 2637783	NM_014297.5(ETHE1):c.760G>A (p.Ala254Thr)	ETHE1 (A131T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1611761	NM_014297.5(ETHE1):c.759T>C (p.Thr253=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1606159	NM_014297.5(ETHE1):c.759T>G (p.Thr253=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 959249	NM_014297.5(ETHE1):c.757A>G (p.Thr253Ala)	ETHE1 (T253A +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2755780	NM_014297.5(ETHE1):c.756C>T (p.Pro252=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 752698	NM_014297.5(ETHE1):c.747G>A (p.Val249=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 623957	NM_014297.5(ETHE1):c.742G>A (p.Gly248Arg)	ETHE1 (G248R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2009639	NM_014297.5(ETHE1):c.741T>C (p.Cys247=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2525174	NM_014297.5(ETHE1):c.737G>A (p.Arg246His)	ETHE1 (R148H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1442283	NM_014297.5(ETHE1):c.734T>G (p.Met245Arg)	ETHE1 (M122R +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2093181	NM_014297.5(ETHE1):c.732C>T (p.Asn244=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 894210	NM_014297.5(ETHE1):c.725C>T (p.Pro242Leu)	ETHE1 (P119L +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 1801827	NM_014297.5(ETHE1):c.717del (p.Phe239fs)	ETHE1 (F116fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2169275	NM_014297.5(ETHE1):c.713-7C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2884877	NM_014297.5(ETHE1):c.713-8C>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1260599	NM_014297.5(ETHE1):c.712+199G>A	ETHE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671647	NM_014297.5(ETHE1):c.712+181A>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 1248611	NM_014297.5(ETHE1):c.712+144_712+180del	ETHE1	Deletion (intron variant)	not provided	GBenign
Select item 1175507	NM_014297.5(ETHE1):c.712+154A>G	ETHE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243607	NM_014297.5(ETHE1):c.712+91C>T	ETHE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673475	NM_014297.5(ETHE1):c.712+88G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 3000203	NM_014297.5(ETHE1):c.712+17C>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2801389	NM_014297.5(ETHE1):c.712+15A>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2838655	NM_014297.5(ETHE1):c.712+13G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1077463	NM_014297.5(ETHE1):c.712+7A>C	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 581157	NM_014297.5(ETHE1):c.712+6C>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 968220	NM_014297.5(ETHE1):c.708G>T (p.Gln236His)	ETHE1 (Q138H +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2864753	NM_014297.5(ETHE1):c.706C>T (p.Gln236Ter)	ETHE1 (Q138* +3 more)	Single nucleotide variant (nonsense)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2675142	NM_014297.5(ETHE1):c.703C>T (p.Gln235Ter)	ETHE1 (Q112* +3 more)	Single nucleotide variant (nonsense)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 1722427	NM_014297.5(ETHE1):c.702_703del (p.Gln235fs)	ETHE1 (Q112fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2052483	NM_014297.5(ETHE1):c.695C>T (p.Pro232Leu)	ETHE1 (P221L +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 780071	NM_014297.5(ETHE1):c.684C>T (p.Asn228=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy +1 more	GLikely benign
Select item 2127564	NM_014297.5(ETHE1):c.675C>A (p.Ile225=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1965823	NM_014297.5(ETHE1):c.663G>A (p.Glu221=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 797622	NM_014297.5(ETHE1):c.660G>A (p.Glu220=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1412035	NM_014297.5(ETHE1):c.645_655del (p.Leu215_Thr216insTer)	ETHE1	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GPathogenic
Select item 1134156	NM_014297.5(ETHE1):c.648C>T (p.Thr216=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1656414	NM_014297.5(ETHE1):c.645C>T (p.Leu215=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2756882	NM_014297.5(ETHE1):c.644T>G (p.Leu215Arg)	ETHE1 (L117R +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 1106809	NM_014297.5(ETHE1):c.642G>A (p.Arg214=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1415082	NM_014297.5(ETHE1):c.640C>A (p.Arg214=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2753955	NM_014297.5(ETHE1):c.639T>C (p.Pro213=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1933388	NM_014297.5(ETHE1):c.637C>T (p.Pro213Ser)	ETHE1 (P202S +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 1627493	NM_014297.5(ETHE1):c.633G>A (p.Leu211=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2757690	NM_014297.5(ETHE1):c.630T>G (p.Thr210=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2185448	NM_014297.5(ETHE1):c.624G>A (p.Glu208=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1709780	NM_014297.5(ETHE1):c.622G>A (p.Glu208Lys)	ETHE1 (E110K +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 1361099	NM_014297.5(ETHE1):c.622G>T (p.Glu208Ter)	ETHE1 (E197* +3 more)	Single nucleotide variant (nonsense)	Ethylmalonic encephalopathy	GPathogenic
Select item 2040174	NM_014297.5(ETHE1):c.621G>A (p.Glu207=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2693920	NM_014297.5(ETHE1):c.618G>A (p.Glu206=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2142595	NM_014297.5(ETHE1):c.612C>T (p.Thr204=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1117309	NM_014297.5(ETHE1):c.612C>G (p.Thr204=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2827738	NM_014297.5(ETHE1):c.609C>T (p.Ser203=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2152318	NM_014297.5(ETHE1):c.608C>T (p.Ser203Phe)	ETHE1 (S203F +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 1327828	NM_014297.5(ETHE1):c.605T>G (p.Val202Gly)	ETHE1 (V104G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504504	NM_014297.5(ETHE1):c.604dup (p.Val202fs)	ETHE1 (V79fs +3 more)	Duplication (frameshift variant)	Ethylmalonic encephalopathy	GPathogenic FDA Recognized database
Select item 214325	NM_014297.5(ETHE1):c.602_603del (p.Thr201fs)	ETHE1 (T103fs +3 more)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1102197	NM_014297.5(ETHE1):c.597G>A (p.Gly199=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1936675	NM_014297.5(ETHE1):c.596-1G>A	ETHE1	Single nucleotide variant (splice acceptor variant)	Ethylmalonic encephalopathy	GPathogenic/Likely pathogenic
Select item 1481779	NM_014297.5(ETHE1):c.596-2A>T	ETHE1	Single nucleotide variant (splice acceptor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 214320	NM_014297.5(ETHE1):c.596-2A>G	ETHE1	Single nucleotide variant (splice acceptor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2904940	NM_014297.5(ETHE1):c.596-4C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 808594	NM_014297.5(ETHE1):c.596-6C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 1160543	NM_014297.5(ETHE1):c.596-7C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1456601	NM_014297.5(ETHE1):c.596-8G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2778600	NM_014297.5(ETHE1):c.596-13C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2869801	NM_014297.5(ETHE1):c.596-17C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2891130	NM_014297.5(ETHE1):c.596-18C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1296935	NM_014297.5(ETHE1):c.596-305dup	ETHE1	Duplication (intron variant)	not provided	GBenign
Select item 1287232	NM_014297.5(ETHE1):c.596-305_596-304dup	ETHE1	Duplication (intron variant)	not provided	GBenign
Select item 1242436	NM_014297.5(ETHE1):c.596-305_596-301dup	ETHE1	Duplication (intron variant)	not provided	GBenign
Select item 1228941	NM_014297.5(ETHE1):c.596-305_596-302dup	ETHE1	Duplication (intron variant)	not provided	GBenign
Select item 1209421	NM_014297.5(ETHE1):c.595+142del	ETHE1	Deletion (intron variant)	not provided	GLikely benign
Select item 1184668	NM_014297.5(ETHE1):c.595+47T>C	ETHE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1644829	NM_014297.5(ETHE1):c.595+19A>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 3013236	NM_014297.5(ETHE1):c.595+18G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2845670	NM_014297.5(ETHE1):c.595+15G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 3018667	NM_014297.5(ETHE1):c.595+14G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2877042	NM_014297.5(ETHE1):c.595+1_595+9dup	ETHE1	Duplication (splice donor variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1606748	NM_014297.5(ETHE1):c.595+10T>C	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 1556392	NM_014297.5(ETHE1):c.595+7G>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 2050512	NM_014297.5(ETHE1):c.595+2T>A	ETHE1	Single nucleotide variant (splice donor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 577939	NM_014297.5(ETHE1):c.595+2T>G	ETHE1	Single nucleotide variant (splice donor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 504503	NM_014297.5(ETHE1):c.592dup (p.His198fs)	ETHE1 (H100fs +3 more)	Duplication (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2163752	NM_014297.5(ETHE1):c.588T>C (p.Asp196=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GLikely benign
Select item 969644	NM_014297.5(ETHE1):c.587A>T (p.Asp196Val)	ETHE1 (D73V +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 2675146	NM_014297.5(ETHE1):c.586G>C (p.Asp196His)	ETHE1 (D185H +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GLikely pathogenic

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