ACSF3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 57288	GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1	ACSF3, ANKRD11 +77 more	Copy number loss	See cases	GPathogenic
Select item 151121	GRCh38/hg38 16q24.3(chr16:89079074-89287677)x3	ACSF3, ANKRD11 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1329720	NC_000016.10:g.89093708C>T	ACSF3, LOC130059789	Single nucleotide variant	not provided	GLikely benign
Select item 1703310	NC_000016.10:g.89093730G>A	ACSF3, LOC130059789	Single nucleotide variant	not provided	GLikely benign
Select item 1266611	NC_000016.10:g.89093750G>C	ACSF3, LOC130059789	Single nucleotide variant	not provided	GBenign
Select item 1234159	NC_000016.10:g.89093755G>A	ACSF3, LOC130059789	Single nucleotide variant	not provided	GBenign
Select item 1294308	NC_000016.10:g.89093807C>A	ACSF3, LOC130059789	Single nucleotide variant	not provided	GBenign
Select item 1296438	NM_001243279.3(ACSF3):c.-315C>G	ACSF3, LOC130059789	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248015	NM_001243279.3(ACSF3):c.-269C>G	ACSF3, LOC130059789	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 516974	NM_001243279.3(ACSF3):c.-194+14G>C	ACSF3, LOC130059789	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379938	NM_001243279.3(ACSF3):c.-194+20C>G	ACSF3, LOC130059789	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177766	NM_001243279.3(ACSF3):c.-194+48A>G	ACSF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329765	NM_001243279.3(ACSF3):c.-194+57G>A	ACSF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1687680	NM_001243279.3(ACSF3):c.-194+84T>A	ACSF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294332	NM_001243279.3(ACSF3):c.-193-25C>A	ACSF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377429	NM_001243279.3(ACSF3):c.-193-14A>G	ACSF3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 380080	NM_001243279.3(ACSF3):c.-193-5G>C	ACSF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383042	NM_001243279.3(ACSF3):c.-187C>T	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 682547	NM_001243279.3(ACSF3):c.-36C>T	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 682214	NM_001243279.3(ACSF3):c.-30C>G	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 506787	NM_001243279.3(ACSF3):c.-30C>A	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 389189	NM_001243279.3(ACSF3):c.-29G>C	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 388732	NM_001243279.3(ACSF3):c.-23T>C	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 386917	NM_001243279.3(ACSF3):c.-22G>C	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1271277	NM_001243279.3(ACSF3):c.-20-263A>G	ACSF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269527	NM_001243279.3(ACSF3):c.-20-238G>A	ACSF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188936	NM_001243279.3(ACSF3):c.-20-129C>T	ACSF3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290484	NM_001243279.3(ACSF3):c.-20-82G>A	ACSF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250952	NM_001243279.3(ACSF3):c.-20-21C>A	ACSF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514446	NM_001243279.3(ACSF3):c.-20-11C>A	ACSF3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 387143	NM_001243279.3(ACSF3):c.-20-6C>G	ACSF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136268	NM_001243279.3(ACSF3):c.-20-4C>G	ACSF3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 377430	NM_001243279.3(ACSF3):c.-15C>G	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 203598	NM_001243279.3(ACSF3):c.-14_-13insCCAGGAGGCTCCCGGGAGC	ACSF3	Insertion (5 prime UTR variant +2 more)	not specified	GBenign
Select item 990410	NM_001243279.3(ACSF3):c.-10T>G	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 990411	NM_001243279.3(ACSF3):c.-8T>A	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 203603	NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)	ACSF3 (M1V)	Single nucleotide variant (missense variant +3 more)	ACSF3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1083859	NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)	ACSF3 (L2P)	Inversion (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 136269	NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro)	ACSF3 (L2P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 2165712	NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)	ACSF3 (H4R)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1130710	NM_001243279.3(ACSF3):c.12T>C (p.His4=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1455778	NM_001243279.3(ACSF3):c.16del (p.Val6fs)	ACSF3 (V6fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1518438	NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu)	ACSF3 (V6L)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 990412	NM_001243279.3(ACSF3):c.18G>A (p.Val6=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2851353	NM_001243279.3(ACSF3):c.24C>G (p.Thr8=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2861624	NM_001243279.3(ACSF3):c.27C>T (p.Phe9=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 203604	NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)	ACSF3 (R10W)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 203599	NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln)	ACSF3 (R10Q)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 397622	NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)	ACSF3 (R11C)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 1411950	NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu)	ACSF3 (R11L)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2803959	NM_001243279.3(ACSF3):c.33C>G (p.Arg11=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2157910	NM_001243279.3(ACSF3):c.33C>T (p.Arg11=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2097426	NM_001243279.3(ACSF3):c.36G>T (p.Leu12=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GLikely benign
Select item 737532	NM_001243279.3(ACSF3):c.42C>T (p.Cys14=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 990413	NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)	ACSF3 (A15T)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 2188073	NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)	ACSF3 (A15D)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2129628	NM_001243279.3(ACSF3):c.45C>T (p.Ala15=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 713962	NM_001243279.3(ACSF3):c.45C>G (p.Ala15=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1977983	NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)	ACSF3 (A17T)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 136270	NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro)	ACSF3 (A17P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 1141109	NM_001243279.3(ACSF3):c.51G>A (p.Ala17=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1120432	NM_001243279.3(ACSF3):c.51G>T (p.Ala17=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 136271	NM_001243279.3(ACSF3):c.51G>C (p.Ala17=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 1638411	NM_001243279.3(ACSF3):c.54C>T (p.Ser18=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2145215	NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)	ACSF3 (R20W)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1109412	NM_001243279.3(ACSF3):c.60G>A (p.Arg20=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 515105	NM_001243279.3(ACSF3):c.60G>T (p.Arg20=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GLikely benign
Select item 2536929	NM_001243279.3(ACSF3):c.62T>C (p.Leu21Pro)	ACSF3 (L21P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2575577	NM_001243279.3(ACSF3):c.65C>T (p.Ala22Val)	ACSF3 (A22V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1125114	NM_001243279.3(ACSF3):c.66G>T (p.Ala22=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1089766	NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1541485	NM_001243279.3(ACSF3):c.72G>C (p.Ala24=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1085511	NM_001243279.3(ACSF3):c.72G>A (p.Ala24=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign

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