LOC130008523[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 9149	NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu)	LOC130008523, SLC25A3 (G72E)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy-hypotonia-lactic acidosis syndrome	GPathogenic
Select item 2808834	NM_005888.4(SLC25A3):c.231C>T (p.Gly77=)	LOC130008523, SLC25A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1431083	NM_005888.4(SLC25A3):c.241dup (p.Thr81fs)	LOC130008523, SLC25A3 (T81fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2271310	NM_005888.4(SLC25A3):c.244G>A (p.Ala82Thr)	LOC130008523, SLC25A3 (A82T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2085785	NM_005888.4(SLC25A3):c.259G>A (p.Asp87Asn)	LOC130008523, SLC25A3 (D87N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790332	NM_005888.4(SLC25A3):c.261T>G (p.Asp87Glu)	LOC130008523, SLC25A3 (D87E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2981102	NM_005888.4(SLC25A3):c.276A>G (p.Arg92=)	LOC130008523, SLC25A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 215162	NM_005888.4(SLC25A3):c.279G>T (p.Met93Ile)	LOC130008523, SLC25A3 (M93I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2859817	NM_002635.4(SLC25A3):c.158-161T>C	LOC130008523, SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947009	NM_002635.4(SLC25A3):c.158-158A>G	LOC130008523, SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178577	NM_002635.4(SLC25A3):c.158-150C>A	LOC130008523, SLC25A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215897	NM_002635.4(SLC25A3):c.158-118G>A	SLC25A3, LOC130008523	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675485	NM_002635.4(SLC25A3):c.158-102A>G	LOC130008523, SLC25A3	Single nucleotide variant (intron variant)	not provided	GBenign