ACSF3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Combined malonic and methylmalonic acidemia	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 condition +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 specified +1 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)	not specified +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)	Global developmental delay +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 specified +1 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 +1 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 +1 more	GLikely benign
Select item 1131226	NM_001243279.3(ACSF3):c.75A>G (p.Arg25=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2428228	NM_001243279.3(ACSF3):c.79A>C (p.Arg27=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 598385	NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)	ACSF3 (R27K)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2839167	NM_001243279.3(ACSF3):c.84A>G (p.Gly28=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 971632	NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)	ACSF3 (S29T)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 1361155	NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe)	ACSF3 (L31F)	Single nucleotide variant (non-coding transcript variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1994944	NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)	ACSF3 (L31P)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1548144	NM_001243279.3(ACSF3):c.105C>T (p.Ala35=)	ACSF3	Single nucleotide variant (non-coding transcript variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2835260	NM_001243279.3(ACSF3):c.108A>G (p.Pro36=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1908450	NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)	ACSF3 (V37E)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 990414	NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)	ACSF3 (R39H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1550994	NM_001243279.3(ACSF3):c.117C>T (p.Arg39=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2680438	NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)	ACSF3 (S40*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 203611	NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu)	ACSF3 (S40L)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2003491	NM_001243279.3(ACSF3):c.120G>T (p.Ser40=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 753510	NM_001243279.3(ACSF3):c.120G>A (p.Ser40=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GBenign
Select item 565935	NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val)	ACSF3 (D41V)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1091120	NM_001243279.3(ACSF3):c.123C>T (p.Asp41=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 990415	NM_001243279.3(ACSF3):c.123C>G (p.Asp41Glu)	ACSF3 (D41E)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 759856	NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 990416	NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)	ACSF3 (A44T)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1451748	NM_001243279.3(ACSF3):c.134del (p.Pro45fs)	ACSF3 (P45fs)	Deletion (non-coding transcript variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 1323845	NM_001243279.3(ACSF3):c.136_146del (p.Val46fs)	ACSF3 (V46fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1088589	NM_001243279.3(ACSF3):c.132C>T (p.Ala44=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 990417	NM_001243279.3(ACSF3):c.134C>T (p.Pro45Leu)	ACSF3 (P45L)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 1122855	NM_001243279.3(ACSF3):c.135G>C (p.Pro45=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 990418	NM_001243279.3(ACSF3):c.135G>A (p.Pro45=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 794197	NM_001243279.3(ACSF3):c.138G>A (p.Val46=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1631300	NM_001243279.3(ACSF3):c.141C>T (p.Phe47=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 990419	NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)	ACSF3 (R49C)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 2680491	NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs)	ACSF3 (A50fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1123820	NM_001243279.3(ACSF3):c.147T>A (p.Arg49=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1029289	NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)	ACSF3 (A50V)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2903198	NM_001243279.3(ACSF3):c.151C>T (p.Leu51=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1074603	NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)	ACSF3 (A52fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1990882	NM_001243279.3(ACSF3):c.156C>G (p.Ala52=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 763803	NM_001243279.3(ACSF3):c.156C>T (p.Ala52=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2183987	NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)	ACSF3 (F53L)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance

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