"GeneDx"[submitter] AND "IBA57"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
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 512242	NM_001010867.4(IBA57):c.-9T>G	IBA57	Single nucleotide variant (5 prime UTR variant)	not specified	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 380039	NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala)	IBA57 (G45A)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +3 more	GBenign
Select item 385811	NM_001010867.4(IBA57):c.162C>T (p.Asp54=)	IBA57	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 386278	NM_001010867.4(IBA57):c.204C>T (p.Pro68=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 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 817492	NM_001010867.4(IBA57):c.257_260del (p.Ala86fs)	IBA57 (A86fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 382792	NM_001010867.4(IBA57):c.264C>G (p.Ala88=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +3 more	GBenign/Likely benign
Select item 682558	NM_001010867.4(IBA57):c.279C>G (p.Arg93=)	IBA57	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2136152	NM_001010867.4(IBA57):c.285delinsTA (p.Tyr96fs)	IBA57 (Y96fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 390423	NM_001010867.4(IBA57):c.300G>C (p.Leu100=)	IBA57	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1202371	NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter)	IBA57 (Q103*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 74 +2 more	GPathogenic
Select item 522951	NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)	IBA57 (R105W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +2 more	GConflicting classifications of pathogenicity
Select item 541311	NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp)	IBA57 (L112W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426240	NM_001010867.4(IBA57):c.337T>C (p.Tyr113His)	IBA57 (Y113H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373413	NM_001010867.4(IBA57):c.340G>T (p.Gly114Trp)	IBA57 (G114W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008432	NM_001010867.4(IBA57):c.341+4A>G	IBA57	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 684212	NM_001010867.4(IBA57):c.342-180C>G	IBA57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288892	NM_001010867.4(IBA57):c.342-87G>A	IBA57	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1195621	NM_001010867.4(IBA57):c.342-29G>A	IBA57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 705605	NM_001010867.4(IBA57):c.342-7C>A	IBA57	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GBenign
Select item 2507209	NM_001010867.4(IBA57):c.449C>T (p.Thr150Met)	IBA57 (T150M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 381420	NM_001010867.4(IBA57):c.462C>T (p.His154=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 387370	NM_001010867.4(IBA57):c.471G>A (p.Leu157=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GLikely benign
Select item 1804483	NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)	IBA57 (A169V)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +3 more	GUncertain significance
Select item 1382888	NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu)	IBA57 (P189L)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 1037759	NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr)	IBA57 (A192T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 559322	NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile)	IBA57 (T200I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3373061	NM_001010867.4(IBA57):c.613C>T (p.Pro205Ser)	IBA57 (P12S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817063	NM_001010867.4(IBA57):c.625_650del (p.Pro209fs)	IBA57 (P16fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 379988	NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser)	IBA57 (G211S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 541313	NM_001010867.4(IBA57):c.645C>T (p.Asp215=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +2 more	GBenign/Likely benign
Select item 429652	NM_001010867.4(IBA57):c.664C>G (p.His222Asp)	IBA57 (H222D +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 1064622	NM_001010867.4(IBA57):c.679+3A>G	IBA57	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 74 +2 more	GConflicting classifications of pathogenicity
Select item 704824	NM_001010867.4(IBA57):c.680-5T>A	IBA57	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 2505971	NM_001010867.4(IBA57):c.695T>C (p.Val232Ala)	IBA57 (V232A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521723	NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala)	IBA57 (P236A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +3 more	GUncertain significance
Select item 1005540	NM_001010867.4(IBA57):c.748A>G (p.Met250Val)	IBA57 (M250V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +3 more	GUncertain significance
Select item 508383	NM_001010867.4(IBA57):c.780C>T (p.Tyr260=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GLikely benign
Select item 474297	NM_001010867.4(IBA57):c.801C>T (p.Ala267=)	IBA57	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 426236	NM_001010867.4(IBA57):c.833G>T (p.Arg278Leu)	IBA57 (R278L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559323	NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr)	IBA57 (I327T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 514789	NM_001010867.4(IBA57):c.1032C>T (p.Ala344=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GLikely benign
Select item 1162908	NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser)	IBA57 (A152S +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 572919	NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr)	IBA57 (A345T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1219055	NM_001010867.4(IBA57):c.*3C>T	IBA57	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 386037	NM_001010867.4(IBA57):c.*19G>A	IBA57	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1216363	NM_001010867.4(IBA57):c.*31G>A	IBA57	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54