Related gene-specific medical variations for Gene (Select 32) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260531	NM_001093.4(ACACB):c.6934G>A (p.Val2312Ile)	ACACB, LOC130008714 (V2047I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260511	NM_001093.4(ACACB):c.6867C>G (p.Ile2289Met)	ACACB, LOC130008714 (I2087M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064854	NM_001093.4(ACACB):c.653+8177G>T	ACACB	Single nucleotide variant (intron variant)	High density lipoprotein cholesterol level quantitative trait locus 6	GLikely benign
Select item 3039357	NM_001093.4(ACACB):c.6903T>C (p.His2301=)	ACACB, LOC130008714	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3031470	NM_001093.4(ACACB):c.6933C>T (p.Gly2311=)	ACACB, LOC130008714	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 2473617	NM_001093.4(ACACB):c.6908C>T (p.Thr2303Ile)	ACACB, LOC130008714 (T2303I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320281	NM_001093.4(ACACB):c.6938T>A (p.Ile2313Lys)	ACACB, LOC130008714 (I2313K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1159845	NM_001093.4(ACACB):c.6913G>A (p.Gly2305Ser)	ACACB, LOC130008714 (G2305S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 806936	NM_001093.4(ACACB):c.6084C>T (p.Asp2028=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 806934	NM_001093.4(ACACB):c.2890G>A (p.Asp964Asn)	ACACB (D964N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782566	NM_001093.4(ACACB):c.6917G>A (p.Arg2306Gln)	ACACB, LOC130008714 (R2306Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770610	NM_001093.4(ACACB):c.6891C>T (p.Phe2297=)	ACACB, LOC130008714	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730711	NM_001093.4(ACACB):c.6942+9C>T	ACACB, LOC130008714	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 686882	GRCh37/hg19 12q24.11(chr12:109595535-109642371)x1	ACACB	Copy number loss	not provided	GUncertain significance
Select item 226220	GRCh37/hg19 12q24.11(chr12:109549884-109667024)	ACACB	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 156431	NM_001093.4(ACACB):c.6964G>A (p.Ala2322Thr)	ACACB (A2322T)	Single nucleotide variant (missense variant)	not provided	Gnot provided