"Counsyl"[submitter] AND "DLG4"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557558	NC_000017.11:g.7217174G>A	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_001270447.2(ACADVL):c.55GAAGCA[3] (p.Ala22_Gln23insGluAla)	ACADVL, DLG4	Microsatellite (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 550899	NM_000018.3(ACADVL):c.-2231C>T	ACADVL, DLG4 (Q23*)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 557044	NM_000018.3(ACADVL):c.-2216C>T	ACADVL, DLG4 (Q28*)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 553100	NM_000018.3(ACADVL):c.-2209G>A	ACADVL, DLG4 (W30*)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 549973	NM_001270447.2(ACADVL):c.111_116dup (p.Thr39_Ala40insMetThr)	ACADVL, DLG4	Duplication (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 557073	NM_001270447.2(ACADVL):c.116_120del (p.Thr39fs)	ACADVL, DLG4 (T39fs)	Deletion (frameshift variant +1 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 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)	not provided +1 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 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 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