2108[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 550

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	LOC121530589, LOC121530590 +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	ACSBG1, ADAMTS7 +175 more	Copy number loss	See cases	GPathogenic
Select item 317151	NM_000126.4(ETFA):c.*268A>G	ETFA	Single nucleotide variant (3 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 317152	NM_000126.4(ETFA):c.*216A>T	ETFA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 317153	NM_000126.4(ETFA):c.*99G>A	ETFA	Single nucleotide variant (3 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 317154	NM_000126.4(ETFA):c.*55C>G	ETFA	Single nucleotide variant (3 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 888285	NM_000126.4(ETFA):c.*46C>T	ETFA	Single nucleotide variant (3 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1252024	NM_000126.4(ETFA):c.27_30del	ETFA	Deletion (3 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1401821	NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu)	ETFA	Single nucleotide variant (stop lost)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1950324	NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)	ETFA (K283E +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 742713	NM_000126.4(ETFA):c.988T>C (p.Leu330=)	ETFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 379937	NM_000126.4(ETFA):c.985A>C (p.Ile329Leu)	ETFA (I329L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1111899	NM_000126.4(ETFA):c.981T>G (p.Thr327=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2084138	NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)	ETFA (T327N +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2009024	NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)	ETFA (E276G +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1470135	NM_000126.4(ETFA):c.973G>A (p.Glu325Lys)	ETFA (E276K +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1669624	NM_000126.4(ETFA):c.972T>C (p.Pro324=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 849799	NM_000126.4(ETFA):c.967G>A (p.Val323Ile)	ETFA (V274I +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 590832	NM_000126.4(ETFA):c.964-1G>C	ETFA	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2807135	NM_000126.4(ETFA):c.964-4G>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1533603	NM_000126.4(ETFA):c.964-4G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1089000	NM_000126.4(ETFA):c.964-10T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2721522	NM_000126.4(ETFA):c.964-18T>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2894860	NM_000126.4(ETFA):c.964-20C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 509665	NM_000126.4(ETFA):c.964-20C>G	ETFA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1279723	NM_000126.4(ETFA):c.964-266dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1251280	NM_000126.4(ETFA):c.964-266_964-264dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1241673	NM_000126.4(ETFA):c.964-266_964-265dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1223904	NM_000126.4(ETFA):c.964-266_964-263dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1217790	NM_000126.4(ETFA):c.964-266_964-262dup	ETFA	Duplication (intron variant)	not provided	GLikely benign
Select item 1288440	NM_000126.4(ETFA):c.963+296A>G	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202690	NM_000126.4(ETFA):c.963+260C>T	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194204	NM_000126.4(ETFA):c.963+208A>G	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696227	NM_000126.4(ETFA):c.963+17A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2738664	NM_000126.4(ETFA):c.963+14G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1620803	NM_000126.4(ETFA):c.963+14G>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1122983	NM_000126.4(ETFA):c.963+9del	ETFA	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1980583	NM_000126.4(ETFA):c.963+8G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2597	NM_000126.4(ETFA):c.963+1del	ETFA	Deletion (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2078293	NM_000126.4(ETFA):c.960T>C (p.Phe320=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2166690	NM_000126.4(ETFA):c.955T>C (p.Leu319=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1674121	NM_000126.4(ETFA):c.951A>G (p.Ala317=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1396433	NM_000126.4(ETFA):c.946G>C (p.Val316Leu)	ETFA (V267L +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 583317	NM_000126.4(ETFA):c.946G>T (p.Val316Phe)	ETFA (V316F +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1540497	NM_000126.4(ETFA):c.945A>C (p.Ile315=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1615330	NM_000126.4(ETFA):c.942A>C (p.Gly314=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2006734	NM_000126.4(ETFA):c.939T>C (p.Tyr313=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2157632	NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)	ETFA (D263N +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1378921	NM_000126.4(ETFA):c.932C>T (p.Ala311Val)	ETFA (A311V +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 451737	NM_000126.4(ETFA):c.931G>T (p.Ala311Ser)	ETFA (A311S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2833167	NM_000126.4(ETFA):c.927A>G (p.Gln309=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1057077	NM_000126.4(ETFA):c.919A>G (p.Ile307Val)	ETFA (I258V +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1982992	NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)	ETFA (P306L +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2280352	NM_000126.4(ETFA):c.914C>T (p.Ala305Val)	ETFA (A305V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1533927	NM_000126.4(ETFA):c.909A>G (p.Pro303=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1137255	NM_000126.4(ETFA):c.891G>C (p.Val297=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 917936	NM_000126.4(ETFA):c.884_886del (p.Thr295del)	ETFA (T246del +1 more)	Deletion (inframe_deletion)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 989854	NM_000126.4(ETFA):c.883-3C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1672927	NM_000126.4(ETFA):c.883-4A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2144510	NM_000126.4(ETFA):c.883-5C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1088358	NM_000126.4(ETFA):c.883-6T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1582569	NM_000126.4(ETFA):c.883-9dup	ETFA	Duplication (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1619193	NM_000126.4(ETFA):c.883-9A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1150244	NM_000126.4(ETFA):c.883-10T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1657152	NM_000126.4(ETFA):c.883-14T>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2912648	NM_000126.4(ETFA):c.883-17_883-16del	ETFA	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2730908	NM_000126.4(ETFA):c.883-18T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1896060	NM_000126.4(ETFA):c.883-18T>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1272456	NM_000126.4(ETFA):c.883-76_883-75insGGTAA	ETFA	Insertion (intron variant)	not provided	GBenign
Select item 1243687	NM_000126.4(ETFA):c.883-77_883-76insGTAAG	ETFA	Insertion (intron variant)	not provided	GBenign
Select item 1195187	NM_000126.4(ETFA):c.883-269T>A	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673762	NM_000126.4(ETFA):c.882+54G>T	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513093	NM_000126.4(ETFA):c.882+20del	ETFA	Deletion (intron variant)	not specified	GLikely benign
Select item 2063262	NM_000126.4(ETFA):c.882+15G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2965103	NM_000126.4(ETFA):c.882+14A>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 885178	NM_000126.4(ETFA):c.882+10C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 758328	NM_000126.4(ETFA):c.882+9A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1132932	NM_000126.4(ETFA):c.882+8T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1645754	NM_000126.4(ETFA):c.882+7G>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1118536	NM_000126.4(ETFA):c.882+7G>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1106162	NM_000126.4(ETFA):c.882+7G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 644693	NM_000126.4(ETFA):c.882+6T>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 513614	NM_000126.4(ETFA):c.882+5T>C	ETFA	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2202508	NM_000126.4(ETFA):c.882+3A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989855	NM_000126.4(ETFA):c.876C>A (p.Asp292Glu)	ETFA (D243E +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 577009	NM_000126.4(ETFA):c.871A>C (p.Lys291Gln)	ETFA (K291Q +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3000420	NM_000126.4(ETFA):c.867G>A (p.Gly289=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2165603	NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)	ETFA (G289A +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2872948	NM_000126.4(ETFA):c.864T>G (p.Ala288=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2428239	NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)	ETFA (I231L +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1090478	NM_000126.4(ETFA):c.837A>C (p.Gly279=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 796188	NM_000126.4(ETFA):c.837A>G (p.Gly279=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1924837	NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)	ETFA (G230fs +1 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1635014	NM_000126.4(ETFA):c.831T>C (p.Ala277=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 203692	NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)	ETFA (I276L +1 more)	Single nucleotide variant (missense variant)	ETFA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1569255	NM_000126.4(ETFA):c.822T>A (p.Leu274=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1147453	NM_000126.4(ETFA):c.822T>C (p.Leu274=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign

<< First< Prev

Page of 6