IBA57[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	LOC129932697, LOC129932698 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145605	GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4	GUK1, ARF1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 221378	GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1	GJC2, GUK1 +7 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1204165	NC_000001.11:g.228165437T>C	IBA57, IBA57-DT	Single nucleotide variant	not provided	GLikely benign
Select item 1203628	NC_000001.11:g.228165590G>A	IBA57	Single nucleotide variant	not provided	GLikely benign
Select item 507925	NM_001010867.3(IBA57):c.-45dup	IBA57	Duplication	not specified	GLikely benign
Select item 1722361	NM_001010867.4(IBA57):c.-10C>G	IBA57	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 512242	NM_001010867.4(IBA57):c.-9T>G	IBA57	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2402894	NM_001010867.4(IBA57):c.7A>G (p.Thr3Ala)	IBA57 (T3A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 651713	NM_001010867.4(IBA57):c.11C>T (p.Ala4Val)	IBA57 (A4V)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +3 more	GUncertain significance
Select item 1507732	NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln)	IBA57 (R8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2585593	NM_001010867.4(IBA57):c.24del (p.Gly9fs)	IBA57 (G9fs)	Deletion (frameshift variant)	Multiple mitochondrial dysfunctions syndrome 3	GLikely pathogenic
Select item 1936924	NM_001010867.4(IBA57):c.26G>T (p.Gly9Val)	IBA57 (G9V)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 1879115	NM_001010867.4(IBA57):c.27C>T (p.Gly9=)	IBA57	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2935584	NM_001010867.4(IBA57):c.30C>T (p.Ala10=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 1410916	NM_001010867.4(IBA57):c.31A>T (p.Thr11Ser)	IBA57 (T11S)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2921790	NM_001010867.4(IBA57):c.33T>A (p.Thr11=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 3053335	NM_001010867.4(IBA57):c.39G>C (p.Gly13=)	IBA57	Single nucleotide variant (synonymous variant)	IBA57-related condition	GLikely benign
Select item 2953023	NM_001010867.4(IBA57):c.39G>A (p.Gly13=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2193856	NM_001010867.4(IBA57):c.54C>T (p.Val18=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 1997279	NM_001010867.4(IBA57):c.74_75del (p.Ala25fs)	IBA57 (A25fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 74 +1 more	GPathogenic
Select item 2017506	NM_001010867.4(IBA57):c.79C>A (p.Pro27Thr)	IBA57 (P27T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 1946523	NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly)	IBA57 (R28G)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 2953199	NM_001010867.4(IBA57):c.84G>A (p.Arg28=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 662694	NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly)	IBA57 (C29G)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 1512645	NM_001010867.4(IBA57):c.89G>A (p.Arg30His)	IBA57 (R30H)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 2074055	NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr)	IBA57 (A32T)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2603010	NM_001010867.4(IBA57):c.104C>A (p.Ser35Tyr)	IBA57 (S35Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432684	NM_001010867.4(IBA57):c.104C>T (p.Ser35Phe)	IBA57 (S35F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2318661	NM_001010867.4(IBA57):c.109A>G (p.Ser37Gly)	IBA57 (S37G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1151046	NM_001010867.4(IBA57):c.114T>C (p.Pro38=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2093988	NM_001010867.4(IBA57):c.116G>A (p.Gly39Asp)	IBA57 (G39D)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2432687	NM_001010867.4(IBA57):c.121G>A (p.Asp41Asn)	IBA57 (D41N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380039	NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala)	IBA57 (G45A)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GBenign
Select item 1635285	NM_001010867.4(IBA57):c.138G>C (p.Ala46=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 2187516	NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter)	IBA57 (W48*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 74 +1 more	GPathogenic
Select item 2183288	NM_001010867.4(IBA57):c.147C>G (p.Ala49=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 707654	NM_001010867.4(IBA57):c.150C>T (p.Cys50=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GLikely benign
Select item 545654	NM_001010867.4(IBA57):c.150C>A (p.Cys50Ter)	IBA57 (C50*)	Single nucleotide variant (nonsense)	Multiple mitochondrial dysfunctions syndrome 3	GPathogenic
Select item 796503	NM_001010867.4(IBA57):c.156G>A (p.Arg52=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2036457	NM_001010867.4(IBA57):c.157C>T (p.Leu53=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 385811	NM_001010867.4(IBA57):c.162C>T (p.Asp54=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +3 more	GLikely benign
Select item 433545	NM_001010867.4(IBA57):c.167G>A (p.Arg56His)	IBA57 (R56H)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2051656	NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala)	IBA57 (T57A)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2128574	NM_001010867.4(IBA57):c.172C>G (p.Leu58Val)	IBA57 (L58V)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2135371	NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro)	IBA57 (L58P)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 1968141	NM_001010867.4(IBA57):c.193_203dup (p.Phe69fs)	IBA57 (F69fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 74 +1 more	GPathogenic
Select item 844143	NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr)	IBA57 (P64T)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 559320	NM_001010867.4(IBA57):c.192C>T (p.Pro64=)	IBA57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2933305	NM_001010867.4(IBA57):c.195C>T (p.Asp65=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 3051895	NM_001010867.4(IBA57):c.201G>C (p.Ala67=)	IBA57	Single nucleotide variant (synonymous variant)	IBA57-related condition	GLikely benign
Select item 386278	NM_001010867.4(IBA57):c.204C>T (p.Pro68=)	IBA57	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 541312	NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser)	IBA57 (F69S)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2008346	NM_001010867.4(IBA57):c.208C>T (p.Leu70=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 559321	NM_001010867.4(IBA57):c.210G>C (p.Leu70=)	IBA57	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2432688	NM_001010867.4(IBA57):c.212T>C (p.Leu71Pro)	IBA57 (L71P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 574590	NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala)	IBA57 (G72A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 1387025	NM_001010867.4(IBA57):c.227A>G (p.Asn76Ser)	IBA57 (N76S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 1028441	NM_001010867.4(IBA57):c.232C>G (p.Leu78Val)	IBA57 (L78V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74	GUncertain significance
Select item 2075438	NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)	IBA57 (S82T)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2508616	NM_001010867.4(IBA57):c.246T>A (p.Ser82Arg)	IBA57 (S82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050028	NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)	IBA57	Deletion (inframe_deletion)	Hereditary spastic paraplegia 74 +2 more	GConflicting classifications of pathogenicity
Select item 817492	NM_001010867.4(IBA57):c.257_260del (p.Ala86fs)	IBA57 (A86fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1064623	NM_001010867.4(IBA57):c.262dup (p.Ala88fs)	IBA57 (A88fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 74 +1 more	GPathogenic/Likely pathogenic
Select item 639514	NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg)	IBA57 (G87R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +2 more	GUncertain significance
Select item 655156	NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr)	IBA57 (A88T)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2953706	NM_001010867.4(IBA57):c.264C>T (p.Ala88=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 1073739	NM_001010867.4(IBA57):c.265_286dup (p.Tyr96fs)	IBA57 (Y96fs)	Duplication (frameshift variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GPathogenic
Select item 382792	NM_001010867.4(IBA57):c.264C>G (p.Ala88=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GBenign/Likely benign
Select item 1034361	NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu)	IBA57 (P89L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +2 more	GUncertain significance
Select item 2151069	NM_001010867.4(IBA57):c.269C>T (p.Pro90Leu)	IBA57 (P90L)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 1500706	NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly)	IBA57 (A91G)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 682558	NM_001010867.4(IBA57):c.279C>G (p.Arg93=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +2 more	GBenign/Likely benign
Select item 598321	NM_001010867.4(IBA57):c.283_284delinsAT (p.Gly95Ile)	IBA57 (G95I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2933389	NM_001010867.4(IBA57):c.284_285insT (p.Tyr96fs)	IBA57 (Y96fs)	Insertion (frameshift variant)	Hereditary spastic paraplegia 74 +1 more	GPathogenic
Select item 2933390	NM_001010867.4(IBA57):c.285C>A (p.Gly95=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2136152	NM_001010867.4(IBA57):c.285delinsTA (p.Tyr96fs)	IBA57 (Y96fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1129138	NM_001010867.4(IBA57):c.285C>T (p.Gly95=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 545649	NM_001010867.4(IBA57):c.286T>C (p.Tyr96His)	IBA57 (Y96H)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3	GPathogenic
Select item 1806117	NM_001010867.4(IBA57):c.292del (p.His98fs)	IBA57 (H98fs)	Deletion (frameshift variant)	Multiple mitochondrial dysfunctions syndrome 3	GPathogenic
Select item 1629675	NM_001010867.4(IBA57):c.298C>T (p.Leu100=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 390423	NM_001010867.4(IBA57):c.300G>C (p.Leu100=)	IBA57	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1380853	NM_001010867.4(IBA57):c.304G>A (p.Val102Met)	IBA57 (V102M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 1370283	NM_001010867.4(IBA57):c.304G>C (p.Val102Leu)	IBA57 (V102L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 1394488	NM_001010867.4(IBA57):c.305T>C (p.Val102Ala)	IBA57 (V102A)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 587628	NM_001010867.4(IBA57):c.305T>G (p.Val102Gly)	IBA57 (V102G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +2 more	GUncertain significance

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