ClinVar for OMIM (Select 616451) - ClinVar - NCBI

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

Links from OMIM

Items: 1 to 100 of 183

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2949838	NM_001010867.4(IBA57):c.948C>T (p.Asn316=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2946362	NM_001010867.4(IBA57):c.680-15del	IBA57	Deletion (intron variant)	Hereditary spastic paraplegia 74 +1 more	GBenign
Select item 2940634	NM_001010867.4(IBA57):c.987T>G (p.Gly329=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2940344	NM_001010867.4(IBA57):c.341+2T>G	IBA57	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 74 +1 more	GLikely pathogenic
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 2934330	NM_001010867.4(IBA57):c.372C>T (p.Phe124=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2933787	NM_001010867.4(IBA57):c.315G>A (p.Arg105=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2933506	NM_001010867.4(IBA57):c.612C>G (p.Gly204=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
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 2933389	NM_001010867.4(IBA57):c.284_285insT (p.Tyr96fs)	IBA57 (Y96fs)	Insertion (frameshift variant)	Hereditary spastic paraplegia 74 +1 more	GPathogenic
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 2932001	NM_001010867.4(IBA57):c.680-6C>T	IBA57	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2927891	NM_001010867.4(IBA57):c.483G>T (p.Ala161=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2927607	NM_001010867.4(IBA57):c.1005C>T (p.Ala335=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2924666	NM_001010867.4(IBA57):c.594C>T (p.Leu198=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2924447	NM_001010867.4(IBA57):c.680-16C>A	IBA57	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2923914	NM_001010867.4(IBA57):c.399G>A (p.Gln133=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
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 2584814	NM_001010867.4(IBA57):c.931A>G (p.Arg311Gly)	IBA57 (R118G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74	GUncertain significance
Select item 2420249	NM_001010867.4(IBA57):c.522G>A (p.Ser174=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2418793	NM_001010867.4(IBA57):c.696C>A (p.Val232=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 2414114	NM_001010867.4(IBA57):c.535G>T (p.Ala179Ser)	IBA57 (A179S)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2200257	NM_001010867.4(IBA57):c.753C>T (p.Asn251=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2194134	NM_001010867.4(IBA57):c.1041G>T (p.Val347=)	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 2190281	NM_001010867.4(IBA57):c.720C>T (p.Ala240=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +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 2186221	NM_001010867.4(IBA57):c.851T>C (p.Phe284Ser)	IBA57 (F284S +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
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 2180702	NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe)	IBA57 (L125F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 2179577	NM_001010867.4(IBA57):c.511G>A (p.Gly171Arg)	IBA57 (G171R)	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2171676	NM_001010867.4(IBA57):c.668G>A (p.Arg223Gln)	IBA57 (R30Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 2169224	NM_001010867.4(IBA57):c.1042C>G (p.Pro348Ala)	IBA57 (P348A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 2169086	NM_001010867.4(IBA57):c.693G>A (p.Gly231=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 2165127	NM_001010867.4(IBA57):c.465G>C (p.Pro155=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2157550	NM_001010867.4(IBA57):c.494G>A (p.Ser165Asn)	IBA57 (S165N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 74 +1 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 2149096	NM_001010867.4(IBA57):c.640G>A (p.Gly214Arg)	IBA57 (G214R +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2145316	NM_001010867.4(IBA57):c.680-18C>G	IBA57	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
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 2130852	NM_001010867.4(IBA57):c.342-488_361del	IBA57	Deletion (splice acceptor variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely pathogenic
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 2112293	NM_001010867.4(IBA57):c.341+20G>A	IBA57	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 2110588	NM_001010867.4(IBA57):c.790G>A (p.Glu264Lys)	IBA57 (E264K +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2095976	NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala)	IBA57 (S131A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
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 2079443	NM_001010867.4(IBA57):c.935del (p.Ala312fs)	IBA57 (A119fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 2077045	NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs)	IBA57 (A161fs)	Duplication (frameshift variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2075438	NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)	IBA57 (S82T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +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 2070682	NM_001010867.4(IBA57):c.316A>T (p.Thr106Ser)	IBA57 (T106S)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2067940	NM_001010867.4(IBA57):c.376C>T (p.Leu126=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 2062660	NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter)	IBA57 (E152*)	Single nucleotide variant (nonsense +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GPathogenic
Select item 2054747	NM_001010867.4(IBA57):c.906C>G (p.Ala302=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 2053083	NM_001010867.4(IBA57):c.439C>T (p.Arg147Trp)	IBA57 (R147W)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
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 2050674	NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)	IBA57 (I327F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2050028	NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)	IBA57	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2049522	NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser)	IBA57 (N53S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 2047774	NM_001010867.4(IBA57):c.342-15C>T	IBA57	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 2039734	NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg)	IBA57 (S130R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 2037054	NM_001010867.4(IBA57):c.493A>G (p.Ser165Gly)	IBA57 (S165G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
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 2024128	NM_001010867.4(IBA57):c.341+4A>C	IBA57	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 2017980	NM_001010867.4(IBA57):c.459G>A (p.Pro153=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
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 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 1997279	NM_001010867.4(IBA57):c.74_75del (p.Ala25fs)	IBA57 (A25fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 74 +1 more	GPathogenic
Select item 1989838	NM_001010867.4(IBA57):c.814A>G (p.Met272Val)	IBA57 (M272V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 1982533	NM_001010867.4(IBA57):c.402C>A (p.Gly134=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 1980517	NM_001010867.4(IBA57):c.339C>T (p.Tyr113=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +2 more	GLikely benign
Select item 1977619	NM_001010867.4(IBA57):c.739C>T (p.Leu247=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 1969652	NM_001010867.4(IBA57):c.342G>C (p.Gly114=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 1968441	NM_001010867.4(IBA57):c.537A>C (p.Ala179=)	IBA57	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
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 1963040	NM_001010867.4(IBA57):c.326A>G (p.Asp109Gly)	IBA57 (D109G)	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 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 1932671	NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu)	IBA57 (I261L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 1929708	NM_001010867.4(IBA57):c.1055C>T (p.Pro352Leu)	IBA57 (P159L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +1 more	GUncertain significance
Select item 1928582	NM_001010867.4(IBA57):c.825C>T (p.Ile275=)	IBA57	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 74 +1 more	GLikely benign
Select item 1918051	NM_001010867.4(IBA57):c.319C>T (p.Leu107Phe)	IBA57 (L107F)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GUncertain significance
Select item 1907601	NM_001010867.4(IBA57):c.680-11A>G	IBA57	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
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 1804483	NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)	IBA57 (A169V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1722360	NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)	IBA57 (Q112* +1 more)	Single nucleotide variant (nonsense)	C1orf69/IBA57-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 1662893	NM_001010867.4(IBA57):c.342-14C>T	IBA57	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
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 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 1621891	NM_001010867.4(IBA57):c.341+9G>A	IBA57	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 74 +2 more	GLikely benign
Select item 1610716	NM_001010867.4(IBA57):c.585G>A (p.Gly195=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 1596661	NM_001010867.4(IBA57):c.680-14T>G	IBA57	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 1589424	NM_001010867.4(IBA57):c.567G>T (p.Pro189=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 3 +1 more	GLikely benign
Select item 1522338	NM_001010867.4(IBA57):c.488T>C (p.Leu163Ser)	IBA57 (L163S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 74 +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 1507732	NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln)	IBA57 (R8Q)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 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

<< First< Prev

Page of 2