LOC126806807[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 57792	GRCh38/hg38 3q21.3(chr3:128735053-128967179)x3	ACAD9, ACAD9-DT +9 more	Copy number gain	See cases	GUncertain significance
Select item 665056	NC_000003.11:g.(?_128514201)_(128631967_?)dup	ACAD9-DT, CFAP92 +8 more	Duplication	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 671703	NM_014049.5(ACAD9):c.883-33A>G	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2171415	NM_014049.5(ACAD9):c.883-16C>T	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028461	NM_014049.5(ACAD9):c.883-15C>T	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2161897	NM_014049.5(ACAD9):c.883-14T>G	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2913319	NM_014049.5(ACAD9):c.883-13G>A	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981962	NM_014049.5(ACAD9):c.883-10C>T	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1152706	NM_014049.5(ACAD9):c.883-10C>G	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091190	NM_014049.5(ACAD9):c.883-8C>T	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031266	NM_014049.5(ACAD9):c.883-6C>T	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617422	NM_014049.5(ACAD9):c.883-5T>G	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648100	NM_014049.5(ACAD9):c.883-4G>A	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2196171	NM_014049.5(ACAD9):c.883G>A (p.Val295Met)	ACAD9, LOC126806807 (V172M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428100	NM_014049.5(ACAD9):c.889A>G (p.Met297Val)	ACAD9, LOC126806807 (M174V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1137542	NM_014049.5(ACAD9):c.894C>T (p.Asn298=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1708989	NM_014049.5(ACAD9):c.898C>G (p.Leu300Val)	ACAD9, LOC126806807 (L177V +1 more)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GUncertain significance
Select item 2221227	NM_014049.5(ACAD9):c.899T>G (p.Leu300Arg)	ACAD9, LOC126806807 (L300R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2850171	NM_014049.5(ACAD9):c.900C>T (p.Leu300=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1420898	NM_014049.5(ACAD9):c.902A>G (p.Asn301Ser)	ACAD9, LOC126806807 (N301S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2743993	NM_014049.5(ACAD9):c.903C>T (p.Asn301=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920095	NM_014049.5(ACAD9):c.904A>G (p.Ser302Gly)	ACAD9, LOC126806807 (S179G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 901179	NM_014049.5(ACAD9):c.906C>T (p.Ser302=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1466516	NM_014049.5(ACAD9):c.907G>T (p.Gly303Cys)	ACAD9, LOC126806807 (G303C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 901180	NM_014049.5(ACAD9):c.907G>A (p.Gly303Ser)	ACAD9, LOC126806807 (G303S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2704684	NM_014049.5(ACAD9):c.909C>A (p.Gly303=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1912066	NM_014049.5(ACAD9):c.910C>T (p.Arg304Trp)	ACAD9, LOC126806807 (R181W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049334	NM_014049.5(ACAD9):c.911G>A (p.Arg304Gln)	ACAD9, LOC126806807 (R181Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1151213	NM_014049.5(ACAD9):c.912G>T (p.Arg304=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1151067	NM_014049.5(ACAD9):c.912G>A (p.Arg304=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1112588	NM_014049.5(ACAD9):c.927C>T (p.Ser309=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 213989	NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)	ACAD9, LOC126806807 (V310I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 390070	NM_014049.5(ACAD9):c.930C>T (p.Val310=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 213990	NM_014049.5(ACAD9):c.931G>A (p.Val311Met)	LOC126806807, ACAD9 (V311M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 381285	NM_014049.5(ACAD9):c.933G>T (p.Val311=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	ACAD9-related disorder +2 more	GLikely benign
Select item 1148420	NM_014049.5(ACAD9):c.936T>G (p.Ala312=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2189630	NM_014049.5(ACAD9):c.942G>C (p.Leu314=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2849590	NM_014049.5(ACAD9):c.946_947del (p.Lys316fs)	ACAD9, LOC126806807 (K193fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2109814	NM_014049.5(ACAD9):c.951_954ATTG[1] (p.Ile319fs)	ACAD9, LOC126806807 (I319fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1456169	NM_014049.5(ACAD9):c.957del (p.Ile319fs)	ACAD9, LOC126806807 (I319fs)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2679729	NM_014049.5(ACAD9):c.958+2T>C	ACAD9, LOC126806807	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1099157	NM_014049.5(ACAD9):c.958+9G>A	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758942	NM_014049.5(ACAD9):c.958+12dup	ACAD9, LOC126806807	Duplication (intron variant)	not provided	GLikely benign
Select item 2741071	NM_014049.5(ACAD9):c.958+16A>T	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008580	NM_014049.5(ACAD9):c.958+21del	ACAD9, LOC126806807	Deletion (intron variant)	not provided	GLikely benign
Select item 1207288	NM_014049.5(ACAD9):c.958+169G>A	LOC126806807, ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202260	NM_014049.5(ACAD9):c.958+175G>C	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290274	NM_014049.5(ACAD9):c.958+267T>C	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 54