acadvld %5bgene%5d and %22single gene%22%5bproperties%5d - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1808

<< First< Prev

Page of 19

The following terms were not found in ClinVar: %5bgene%5d, %22single, gene%22%5bproperties%5d.
Showing results for ACADVL%5Bgene%5D and %22single gene%22%5Bproperties%5D. Your search for ACADVL%5Bgene%5D and %22single gene%22%5Bproperties%5D retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333988	NM_001608.4(ACADL):c.*621G>A	ACADL	Single nucleotide variant (3 prime UTR variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 632339	NM_001608.4(ACADL):c.928_933delinsCATGAATGTTATGTTT (p.Thr310fs)	ACADL (T310fs)	Indel (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 632340	NM_001608.4(ACADL):c.24dup (p.Ser9fs)	ACADL (S9fs)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 557558	NM_001321075.3(DLG4):c.-27C>T	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 180253	NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val)	ACADVL, DLG4 (I18V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 550604	NM_001365.5(DLG4):c.159+489GCTTCT[3]	ACADVL, DLG4	Microsatellite (inframe_insertion +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 550899	NM_001365.5(DLG4):c.159+487G>A	ACADVL, DLG4 (Q23*)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 557044	NM_001365.5(DLG4):c.159+472G>A	ACADVL, DLG4 (Q28*)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 553100	NM_001365.5(DLG4):c.159+465C>T	ACADVL, DLG4 (W30*)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2428699	NM_001365.5(DLG4):c.159+455G>T	ACADVL, DLG4	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign
Select item 549973	NM_001365.5(DLG4):c.159+439_159+444dup	ACADVL, DLG4	Duplication (inframe_insertion +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 557073	NM_001365.5(DLG4):c.159+435_159+439del	ACADVL, DLG4 (T39fs)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 324979	NM_000018.3(ACADVL):c.-132C>T	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 552975	NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG	ACADVL, DLG4	Insertion (genic upstream transcript variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 552762	NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 558231	NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 555749	NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 554697	NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 324980	NM_000018.3(ACADVL):c.-64T>C	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 166637	NM_001033859.2(ACADVL):c.-63_-49dup	ACADVL, DLG4	Duplication (5 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 552316	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 553169	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 324981	NM_000018.4(ACADVL):c.-36A>G	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 555349	NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)	ACADVL, DLG4 (M1I)	Single nucleotide variant (5 prime UTR variant +4 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2011730	NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)	ACADVL, DLG4 (Q2*)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1915930	NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)	ACADVL, DLG4 (A3V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2149984	NM_000018.4(ACADVL):c.9G>A (p.Ala3=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2045321	NM_000018.4(ACADVL):c.9G>C (p.Ala3=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1369951	NM_000018.4(ACADVL):c.11C>A (p.Ala4Asp)	ACADVL, DLG4 (A4D)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1488809	NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly)	ACADVL, DLG4 (R5G)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 552503	NM_000018.4(ACADVL):c.16_32del (p.Met6fs)	ACADVL, DLG4 (M6fs)	Deletion (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1986204	NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)	ACADVL, DLG4 (M6T)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1977648	NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)	ACADVL, DLG4 (M6I)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1484230	NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp)	ACADVL, DLG4 (A7D)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2751868	NM_000018.4(ACADVL):c.24G>A (p.Ala8=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1135385	NM_000018.4(ACADVL):c.24G>C (p.Ala8=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2163945	NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)	ACADVL, DLG4 (S9T)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2817760	NM_000018.4(ACADVL):c.27C>T (p.Ser9=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1104345	NM_000018.4(ACADVL):c.28T>C (p.Leu10=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1084592	NM_000018.4(ACADVL):c.30G>A (p.Leu10=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 557638	NM_000018.4(ACADVL):c.33del (p.Arg12fs)	ACADVL, DLG4 (R12fs)	Deletion (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1094008	NM_000018.4(ACADVL):c.33G>A (p.Gly11=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1412508	NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp)	ACADVL, DLG4 (R12W)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 812785	NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)	ACADVL, DLG4 (Q13*)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 1553465	NM_000018.4(ACADVL):c.39G>A (p.Gln13=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2980072	NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)	ACADVL, DLG4 (L14V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 21022	NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)	ACADVL, DLG4 (L17F)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 2995643	NM_000018.4(ACADVL):c.51C>G (p.Leu17=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 891273	NM_000018.4(ACADVL):c.51C>T (p.Leu17=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 474899	NM_000018.4(ACADVL):c.54G>A (p.Gly18=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2053220	NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)	ACADVL, DLG4 (G19V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2135798	NM_000018.4(ACADVL):c.57C>G (p.Gly19=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1969877	NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)	ACADVL, DLG4 (G20*)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2146837	NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)	ACADVL, DLG4 (G20E)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1330945	NM_000018.4(ACADVL):c.62G>A (p.Ser21Asn)	ACADVL, DLG4 (S21N)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2093923	NM_000018.4(ACADVL):c.62+1G>T	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 962673	NM_000018.4(ACADVL):c.62+1G>A	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2695874	NM_000018.4(ACADVL):c.62+2T>C	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2021497	NM_000018.4(ACADVL):c.62+4TG[2]	ACADVL, DLG4	Microsatellite (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1157538	NM_000018.4(ACADVL):c.62+4TG[3]	ACADVL, DLG4	Microsatellite (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 991125	NM_000018.4(ACADVL):c.62+5G>A	ACADVL	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 432072	NM_000018.4(ACADVL):c.62+6T>C	ACADVL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 555795	NM_000018.4(ACADVL):c.62+9G>A	ACADVL	Single nucleotide variant (5 prime UTR variant +1 more)	ACADVL-related condition +1 more	GConflicting classifications of pathogenicity
Select item 555421	NM_000018.4(ACADVL):c.62+10del	ACADVL	Deletion (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1565773	NM_000018.4(ACADVL):c.62+11G>A	ACADVL	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1543840	NM_000018.4(ACADVL):c.62+12_62+21del	ACADVL, LOC130060113	Deletion (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2761565	NM_000018.4(ACADVL):c.62+13C>T	ACADVL	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2080354	NM_000018.4(ACADVL):c.62+16G>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2959537	NM_000018.4(ACADVL):c.62+21_62+28del	ACADVL, LOC130060113	Deletion (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 555394	NM_000018.4(ACADVL):c.62+18G>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 932881	NM_000018.4(ACADVL):c.62+20G>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 811499	NM_000018.4(ACADVL):c.63-35G>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 439362	NM_000018.4(ACADVL):c.63-31C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 555135	NM_000018.4(ACADVL):c.63-18A>G	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 1582405	NM_000018.4(ACADVL):c.63-17A>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2893694	NM_000018.4(ACADVL):c.63-12del	ACADVL, LOC130060113	Deletion (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign
Select item 2812290	NM_000018.4(ACADVL):c.63-16C>G	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2808113	NM_000018.4(ACADVL):c.63-16C>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2079753	NM_000018.4(ACADVL):c.63-16C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1156270	NM_000018.4(ACADVL):c.63-10C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1121738	NM_000018.4(ACADVL):c.63-8C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2717071	NM_000018.4(ACADVL):c.63-7C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2757723	NM_000018.4(ACADVL):c.63-5C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1610031	NM_000018.4(ACADVL):c.63-4A>G	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 474900	NM_000018.4(ACADVL):c.63-2A>C	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 2156949	NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro)	ACADVL, LOC130060113 (S22P +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2415442	NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu)	ACADVL, LOC130060113 (S22L +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1525860	NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)	ACADVL, LOC130060113 (S22W +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 166638	NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	ACADVL, LOC130060113 (S22* +1 more)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 1515846	NM_000018.4(ACADVL):c.68G>T (p.Arg23Leu)	ACADVL, LOC130060113 (R23L +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 21023	NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)	ACADVL, LOC130060113 (R23Q +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 2723035	NM_000018.4(ACADVL):c.69G>A (p.Arg23=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1601932	NM_000018.4(ACADVL):c.75G>T (p.Thr25=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 932830	NM_000018.4(ACADVL):c.79_100del (p.Leu27fs)	ACADVL, LOC130060113 (L27fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 1606185	NM_000018.4(ACADVL):c.78G>C (p.Ala26=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 655628	NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe)	ACADVL, LOC130060113 (L27F +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2026735	NM_000018.4(ACADVL):c.81C>G (p.Leu27=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2983221	NM_000018.4(ACADVL):c.84G>A (p.Leu28=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 541722	NM_000018.4(ACADVL):c.86G>A (p.Gly29Glu)	ACADVL, LOC130060113 (G29E +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2680261	NM_000018.4(ACADVL):c.90del (p.Gln30fs)	ACADVL, LOC130060113 (Q30fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic

<< First< Prev

Page of 19