LOC130060113[gene] - ClinVar

Search results

Items: 90

	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 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 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	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)	not provided +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
Select item 1520638	NM_000018.4(ACADVL):c.91C>T (p.Pro31Ser)	ACADVL, LOC130060113 (P31S +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1440456	NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs)	ACADVL, LOC130060113 (R60fs +1 more)	Microsatellite (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1707706	NM_000018.4(ACADVL):c.103_112dup (p.Arg38fs)	ACADVL, LOC130060113 (R38fs +1 more)	Duplication (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 570124	NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln)	ACADVL, LOC130060113 (R32Q +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1087851	NM_000018.4(ACADVL):c.96G>A (p.Arg32=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign FDA Recognized database
Select item 541714	NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)	ACADVL, LOC130060113 (P58fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 2758110	NM_000018.4(ACADVL):c.99C>T (p.Pro33=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 641979	NM_000018.4(ACADVL):c.100G>A (p.Gly34Ser)	ACADVL, LOC130060113 (G34S +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 550622	NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	ACADVL, LOC130060113 (R37fs +1 more)	Duplication (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2680267	NM_000018.4(ACADVL):c.105_109del (p.Arg37fs)	ACADVL, LOC130060113 (R37fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1565756	NM_000018.4(ACADVL):c.102C>T (p.Gly34=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 541718	NM_000018.4(ACADVL):c.104del (p.Pro35fs)	LOC130060113, ACADVL (P35fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 932738	NM_000018.4(ACADVL):c.107C>T (p.Ala36Val)	ACADVL, LOC130060113 (A36V +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2170542	NM_000018.4(ACADVL):c.108C>T (p.Ala36=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 324982	NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp)	ACADVL, LOC130060113 (R37W +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 1936372	NM_000018.4(ACADVL):c.110G>A (p.Arg37Gln)	ACADVL, LOC130060113 (R60Q +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 723783	NM_000018.4(ACADVL):c.111G>A (p.Arg37=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 892467	NM_000018.4(ACADVL):c.114G>C (p.Arg38=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 703885	NM_000018.4(ACADVL):c.117C>T (p.Pro39=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign FDA Recognized database
Select item 2093749	NM_000018.4(ACADVL):c.119A>G (p.Tyr40Cys)	ACADVL, LOC130060113 (Y40C +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 569736	NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)	ACADVL, LOC130060113 (A41T +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 794375	NM_000018.4(ACADVL):c.123C>T (p.Ala41=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 857574	NM_000018.4(ACADVL):c.128del (p.Gly43fs)	ACADVL, LOC130060113 (G43fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 3021407	NM_000018.4(ACADVL):c.126G>T (p.Gly42=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1904339	NM_000018.4(ACADVL):c.127G>A (p.Gly43Ser)	ACADVL, LOC130060113 (G43S +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 21015	NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp)	ACADVL, LOC130060113 (G43D +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 166639	NM_000018.4(ACADVL):c.129T>A (p.Gly43=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 932739	NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr)	ACADVL, LOC130060113 (A67T +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1150145	NM_000018.4(ACADVL):c.132C>G (p.Ala44=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 799004	NM_000018.4(ACADVL):c.132C>T (p.Ala44=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 860852	NM_000018.4(ACADVL):c.134C>T (p.Ala45Val)	ACADVL, LOC130060113 (A45V +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1397245	NM_000018.4(ACADVL):c.138G>A (p.Gln46=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 550796	NM_000018.4(ACADVL):c.138+1G>A	ACADVL, LOC130060113	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 449935	NM_000018.4(ACADVL):c.138+2dup	ACADVL, LOC130060113	Duplication (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 370856	NM_000018.4(ACADVL):c.138+2T>C	ACADVL, LOC130060113	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 932882	NM_000018.4(ACADVL):c.138+5G>A	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1581809	NM_000018.4(ACADVL):c.138+7C>T	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1085757	NM_000018.4(ACADVL):c.138+7C>A	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1644754	NM_000018.4(ACADVL):c.138+10C>T	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1538620	NM_000018.4(ACADVL):c.138+10C>A	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 388142	NM_000018.4(ACADVL):c.138+10C>G	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2420025	NM_000018.4(ACADVL):c.138+11G>T	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2908059	NM_000018.4(ACADVL):c.138+15C>T	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2830987	NM_000018.4(ACADVL):c.138+16C>A	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1670026	NM_000018.4(ACADVL):c.138+17T>C	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign

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Items: 90