"Ambry Genetics"[submitter] AND "SLC25A46"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 422422	NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs)	SLC25A46 (R5fs)	Insertion (frameshift variant +2 more)	not provided +3 more	GPathogenic
Select item 2607326	NM_138773.4(SLC25A46):c.26T>A (p.Phe9Tyr)	SLC25A46 (F9Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2613173	NM_138773.4(SLC25A46):c.44G>C (p.Arg15Pro)	SLC25A46 (R15P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 542449	NM_138773.4(SLC25A46):c.44G>A (p.Arg15Gln)	SLC25A46 (R15Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 542454	NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser)	SLC25A46 (A18S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 580231	NM_138773.4(SLC25A46):c.55C>A (p.Arg19=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GConflicting classifications of pathogenicity
Select item 542456	NM_138773.4(SLC25A46):c.81C>T (p.Ala27=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GLikely benign
Select item 542451	NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr)	SLC25A46 (P50T)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +2 more	GUncertain significance
Select item 1776355	NM_138773.4(SLC25A46):c.160A>G (p.Asn54Asp)	SLC25A46 (N54D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2543181	NM_138773.4(SLC25A46):c.179A>G (p.Lys60Arg)	SLC25A46 (K60R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 859673	NM_138773.4(SLC25A46):c.230C>T (p.Thr77Met)	SLC25A46 (T77M)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +2 more	GUncertain significance
Select item 3163780	NM_138773.4(SLC25A46):c.235G>C (p.Glu79Gln)	SLC25A46 (E79Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 542455	NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys)	SLC25A46 (E79K)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +2 more	GConflicting classifications of pathogenicity
Select item 1791321	NM_138773.4(SLC25A46):c.244_245delinsAT (p.Ser82Ile)	SLC25A46 (S82I)	Indel (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1792515	NM_138773.4(SLC25A46):c.251G>A (p.Gly84Asp)	SLC25A46 (G84D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2273168	NM_138773.4(SLC25A46):c.259G>A (p.Gly87Ser)	SLC25A46 (G87S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2526300	NM_138773.4(SLC25A46):c.263G>A (p.Ser88Asn)	SLC25A46 (S88N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1443021	NM_138773.4(SLC25A46):c.265G>C (p.Val89Leu)	SLC25A46 (V89L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 502218	NM_138773.4(SLC25A46):c.273del (p.Gln92fs)	SLC25A46 (Q92fs)	Deletion (frameshift variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 706462	NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn)	SLC25A46 (S93N)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely benign
Select item 836468	NM_138773.4(SLC25A46):c.314T>C (p.Ile105Thr)	SLC25A46 (I14T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1044829	NM_138773.4(SLC25A46):c.315T>G (p.Ile105Met)	SLC25A46 (I105M +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 1731554	NM_138773.4(SLC25A46):c.344T>C (p.Val115Ala)	SLC25A46 (V24A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 653726	NM_138773.4(SLC25A46):c.359G>T (p.Cys120Phe)	SLC25A46 (C120F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1733297	NM_138773.4(SLC25A46):c.361A>G (p.Ile121Val)	SLC25A46 (I30V +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 1734458	NM_138773.4(SLC25A46):c.373C>T (p.Arg125Cys)	SLC25A46 (R125C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 475794	NM_138773.4(SLC25A46):c.385-4A>G	SLC25A46	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 570160	NM_138773.4(SLC25A46):c.410A>G (p.His137Arg)	SLC25A46 (H137R +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 475795	NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn)	SLC25A46 (T139N +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A46-related condition +3 more	GConflicting classifications of pathogenicity
Select item 644523	NM_138773.4(SLC25A46):c.463-3del	SLC25A46	Deletion (intron variant)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 3163781	NM_138773.4(SLC25A46):c.482A>C (p.Lys161Thr)	SLC25A46 (K161T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531668	NM_138773.4(SLC25A46):c.493A>G (p.Ser165Gly)	SLC25A46 (S165G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1746351	NM_138773.4(SLC25A46):c.524G>T (p.Gly175Val)	SLC25A46 (G175V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1751665	NM_138773.4(SLC25A46):c.610C>G (p.Leu204Val)	SLC25A46 (L113V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1010046	NM_138773.4(SLC25A46):c.620+2dup	SLC25A46	Duplication (splice donor variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475798	NM_138773.4(SLC25A46):c.630C>T (p.Tyr210=)	SLC25A46	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GBenign/Likely benign
Select item 475799	NM_138773.4(SLC25A46):c.631G>A (p.Val211Met)	SLC25A46 (V211M +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A46-related condition +3 more	GLikely benign
Select item 1408968	NM_138773.4(SLC25A46):c.632T>C (p.Val211Ala)	SLC25A46 (V120A +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 1040456	NM_138773.4(SLC25A46):c.661C>A (p.Leu221Met)	SLC25A46 (L221M +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +2 more	GUncertain significance
Select item 1362909	NM_138773.4(SLC25A46):c.722A>C (p.Lys241Thr)	SLC25A46 (K241T +1 more)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 1758310	NM_138773.4(SLC25A46):c.731T>C (p.Ile244Thr)	SLC25A46 (I244T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1376548	NM_138773.4(SLC25A46):c.733G>A (p.Gly245Arg)	SLC25A46 (G245R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 429566	NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu)	SLC25A46 (I248L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 372238	NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp)	SLC25A46 (G249D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475800	NM_138773.4(SLC25A46):c.767A>G (p.Lys256Arg)	SLC25A46 (K256R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely benign
Select item 475801	NM_138773.4(SLC25A46):c.776T>G (p.Leu259Arg)	SLC25A46 (L259R +1 more)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +2 more	GUncertain significance
Select item 1761758	NM_138773.4(SLC25A46):c.803C>A (p.Thr268Lys)	SLC25A46 (T268K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 475802	NM_138773.4(SLC25A46):c.804G>A (p.Thr268=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GLikely benign
Select item 1764207	NM_138773.4(SLC25A46):c.865A>G (p.Ile289Val)	SLC25A46 (I198V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2180318	NM_138773.4(SLC25A46):c.892C>T (p.His298Tyr)	SLC25A46 (H298Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3163782	NM_138773.4(SLC25A46):c.922A>G (p.Ser308Gly)	SLC25A46 (S217G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 542458	NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)	SLC25A46	Duplication (inframe_insertion +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 644999	NM_138773.4(SLC25A46):c.938_940del (p.Tyr313del)	SLC25A46 (Y222del +2 more)	Deletion (inframe_deletion +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 1767688	NM_138773.4(SLC25A46):c.965C>A (p.Ala322Asp)	SLC25A46 (A241D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 651223	NM_138773.4(SLC25A46):c.977G>T (p.Cys326Phe)	SLC25A46 (C235F +2 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 1768819	NM_138773.4(SLC25A46):c.998del (p.Pro333fs)	SLC25A46 (P242fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2292572	NM_138773.4(SLC25A46):c.1001T>C (p.Leu334Ser)	SLC25A46 (L243S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1037241	NM_138773.4(SLC25A46):c.1019G>A (p.Arg340His)	SLC25A46 (R249H +2 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 1470045	NM_138773.4(SLC25A46):c.1039C>T (p.Arg347Cys)	SLC25A46 (R347C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 655429	NM_138773.4(SLC25A46):c.1063C>G (p.Leu355Val)	SLC25A46 (L274V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1437699	NM_138773.4(SLC25A46):c.1078_1087dup (p.Asn363delinsThrSerAsnTer)	SLC25A46	Duplication (nonsense +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3163779	NM_138773.4(SLC25A46):c.1095A>C (p.Gln365His)	SLC25A46 (Q284H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 542457	NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=)	SLC25A46	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1741334	NM_138773.4(SLC25A46):c.1178T>C (p.Ile393Thr)	SLC25A46 (I393T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1746002	NM_138773.4(SLC25A46):c.1196A>G (p.His399Arg)	SLC25A46 (H399R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 475789	NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=)	SLC25A46	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GLikely benign
Select item 1760558	NM_138773.4(SLC25A46):c.1250A>G (p.Asn417Ser)	SLC25A46 (N417S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 67