ACSF2[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 2609844	NM_025149.6(ACSF2):c.21G>A (p.Met7Ile)	ACSF2 (M7I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139577	NM_025149.6(ACSF2):c.43G>C (p.Ala15Pro)	ACSF2 (A15P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139533	NM_025149.6(ACSF2):c.106T>A (p.Leu36Met)	ACSF2 (L36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258431	NM_025149.6(ACSF2):c.145C>T (p.Arg49Cys)	ACSF2 (R49C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139551	NM_025149.6(ACSF2):c.150G>T (p.Met50Ile)	ACSF2 (M50I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328738	NM_025149.6(ACSF2):c.152T>G (p.Val51Gly)	ACSF2 (V51G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391631	NM_025149.6(ACSF2):c.158C>T (p.Thr53Met)	ACSF2 (T53M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604396	NM_025149.6(ACSF2):c.181G>A (p.Val61Ile)	ACSF2 (V61I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3139571	NM_025149.6(ACSF2):c.208A>G (p.Asn70Asp)	ACSF2 (N95D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139579	NM_025149.6(ACSF2):c.503A>T (p.Lys168Met)	ACSF2 (K193M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300241	NM_025149.6(ACSF2):c.646G>A (p.Val216Ile)	ACSF2 (V173I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595606	NM_025149.6(ACSF2):c.653C>T (p.Ser218Leu)	ACSF2 (S205L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352638	NM_025149.6(ACSF2):c.694G>A (p.Val232Met)	ACSF2 (V219M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514415	NM_025149.6(ACSF2):c.701C>T (p.Ala234Val)	ACSF2 (A191V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290257	NM_025149.6(ACSF2):c.932A>G (p.His311Arg)	ACSF2 (H151R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367422	NM_025149.6(ACSF2):c.959T>C (p.Met320Thr)	ACSF2 (M277T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367366	NM_025149.6(ACSF2):c.1104C>A (p.Asp368Glu)	ACSF2 (D208E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274404	NM_025149.6(ACSF2):c.1124C>T (p.Ser375Leu)	ACSF2 (S362L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779024	NM_001267.3(CHAD):c.1049C>T (p.Thr350Ile)	ACSF2, CHAD (T350I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 786655	NM_001267.3(CHAD):c.1047C>T (p.Pro349=)	ACSF2, CHAD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3143992	NM_001267.3(CHAD):c.1031G>A (p.Arg344His)	ACSF2, CHAD (R344H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463519	NM_001267.3(CHAD):c.1030C>T (p.Arg344Cys)	ACSF2, CHAD (R344C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535215	NM_001267.3(CHAD):c.937C>T (p.Arg313Trp)	ACSF2, CHAD (R313W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378108	NM_001267.3(CHAD):c.796G>A (p.Gly266Ser)	ACSF2, CHAD (G266S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778715	NM_001267.3(CHAD):c.676C>T (p.Leu226=)	ACSF2, CHAD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2525076	NM_001267.3(CHAD):c.623C>T (p.Ser208Phe)	ACSF2, CHAD (S208F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462344	NM_001267.3(CHAD):c.592G>A (p.Ala198Thr)	ACSF2, CHAD (A198T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727559	NM_001267.3(CHAD):c.571C>G (p.Leu191Val)	ACSF2, CHAD (L191V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2509568	NM_001267.3(CHAD):c.488G>A (p.Arg163His)	ACSF2, CHAD (R163H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527129	NM_001267.3(CHAD):c.472A>G (p.Lys158Glu)	ACSF2, CHAD (K158E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509587	NM_001267.3(CHAD):c.360C>A (p.Asp120Glu)	ACSF2, CHAD (D120E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533199	NM_001267.3(CHAD):c.218C>A (p.Ala73Asp)	ACSF2, CHAD (A73D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143993	NM_001267.3(CHAD):c.215G>A (p.Arg72Gln)	ACSF2, CHAD (R72Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319200	NM_001267.3(CHAD):c.115G>A (p.Asp39Asn)	ACSF2, CHAD (D39N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559427	NM_001267.3(CHAD):c.75G>T (p.Gln25His)	ACSF2, CHAD (Q25H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778716	NM_001267.3(CHAD):c.73C>A (p.Gln25Lys)	ACSF2, CHAD (Q25K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3139541	NM_025149.6(ACSF2):c.1259A>C (p.His420Pro)	ACSF2 (H407P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605114	NM_025149.6(ACSF2):c.1264C>T (p.Pro422Ser)	ACSF2 (P447S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139544	NM_025149.6(ACSF2):c.1342G>A (p.Glu448Lys)	ACSF2 (E288K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139547	NM_025149.6(ACSF2):c.1456G>A (p.Asp486Asn)	ACSF2 (D443N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557331	NM_025149.6(ACSF2):c.1516G>A (p.Val506Met)	ACSF2 (V346M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280787	NM_025149.6(ACSF2):c.1523G>A (p.Arg508His)	ACSF2 (R495H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232158	NM_025149.6(ACSF2):c.1547G>A (p.Gly516Asp)	ACSF2 (G473D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402594	NM_025149.6(ACSF2):c.1669C>T (p.Arg557Trp)	ACSF2 (R514W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139567	NM_025149.6(ACSF2):c.1828G>A (p.Glu610Lys)	ACSF2 (E567K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139569	NM_025149.6(ACSF2):c.1832G>T (p.Arg611Leu)	ACSF2 (R568L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2692406	Single allele	ACSF2, COL1A1 +8 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 56