37[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 1805210	NM_001321075.3(DLG4):c.10_13del (p.Leu4fs)	ACADVL, DLG4 (L4fs)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 1176656	NM_001321075.3(DLG4):c.-12A>G	ACADVL, DLG4 (L5P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3357092	NM_001270447.2(ACADVL):c.24G>A (p.Ala8=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	ACADVL-related disorder	GLikely benign
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)	Very long chain acyl-CoA dehydrogenase deficiency +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 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_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 2431848	NM_001365.5(DLG4):c.159+13G>A	ACADVL, DLG4	Single nucleotide variant (intron variant)	Intellectual developmental disorder 62	GUncertain significance
Select item 2285545	NM_001365.5(DLG4):c.154_155del (p.Gln53fs)	ACADVL, DLG4 (Q53fs)	Microsatellite (frameshift variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3359640	NM_001365.5(DLG4):c.125T>G (p.Leu42Arg)	ACADVL, DLG4 (L42R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2577802	NM_001365.5(DLG4):c.119A>T (p.Asp40Val)	ACADVL, DLG4 (D40V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1676574	NM_001365.5(DLG4):c.109G>A (p.Ala37Thr)	ACADVL, DLG4 (A37T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2647321	NM_001365.5(DLG4):c.94A>G (p.Ser32Gly)	ACADVL, DLG4 (S32G)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1311690	NM_001365.5(DLG4):c.67G>T (p.Ala23Ser)	ACADVL, DLG4 (A23S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 996785	NM_001365.5(DLG4):c.38G>A (p.Trp13Ter)	ACADVL, DLG4 (W13*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 3365149	NM_001365.5(DLG4):c.25A>G (p.Arg9Gly)	ACADVL, DLG4 (R9G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 996649	NM_001365.5(DLG4):c.20-1G>C	ACADVL, DLG4	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1895388	NM_001365.5(DLG4):c.2T>G (p.Met1Arg)	ACADVL, DLG4 (M1R)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1246043	NM_001270447.2(ACADVL):c.132-485G>A	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1205310	NM_001270447.2(ACADVL):c.132-431C>T	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1214579	NM_001270447.2(ACADVL):c.132-383A>G	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3059602	NM_001270447.2(ACADVL):c.132-277G>A	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	ACADVL-related disorder	GLikely benign
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	GBenignFDA Recognized database
Select item 166637	NM_000018.3(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 1247632	NM_000018.3(ACADVL):c.-49_-48insGGGCGTTCAGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1271648	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCTGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1227093	NM_000018.3(ACADVL):c.-51_-49CG[2][1]	ACADVL, DLG4	Microsatellite (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1298148	NM_000018.3(ACADVL):c.-49_-48insGGGCGGGCAGGACGG	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1244924	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGA	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
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)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 594363	NM_000018.4(ACADVL):c.-11G>T	ACADVL, DLG4	Single nucleotide variant (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 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 3380462	NM_000018.4(ACADVL):c.35G>T (p.Arg12Leu)	ACADVL, DLG4 (R12L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2481262	NM_000018.4(ACADVL):c.35G>A (p.Arg12Gln)	ACADVL, DLG4 (R12Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	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	GPathogenicFDA Recognized database
Select item 2608542	NM_000018.4(ACADVL):c.38A>T (p.Gln13Leu)	ACADVL, DLG4 (Q13L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
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	GBenignFDA 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)	Inborn genetic diseases +1 more	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)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome +1 more	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	GPathogenic/Likely 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)	Very long chain acyl-CoA dehydrogenase deficiency	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

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