"Ambry Genetics"[submitter] AND "SLC25A26"[gene] - ClinVar

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

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2377618	NM_001379210.1(SLC25A26):c.4G>T (p.Asp2Tyr)	SLC25A26 (D2Y)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1334372	NM_001379210.1(SLC25A26):c.34-4A>G	SLC25A26	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3163662	NM_001379210.1(SLC25A26):c.69A>G (p.Ile23Met)	SLC25A26 (I23M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2471250	NM_001379210.1(SLC25A26):c.88A>G (p.Ile30Val)	SLC25A26 (I30V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3163657	NM_001379210.1(SLC25A26):c.108T>A (p.Ser36Arg)	SLC25A26 (S36R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2472208	NM_001379210.1(SLC25A26):c.148T>C (p.Tyr50His)	SLC25A26 (Y50H)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2231724	NM_001379210.1(SLC25A26):c.155G>A (p.Gly52Asp)	SLC25A26 (G52D)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2606065	NM_001379210.1(SLC25A26):c.157G>A (p.Val53Ile)	SLC25A26 (V53I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2534004	NM_001379210.1(SLC25A26):c.172A>G (p.Ile58Val)	SLC25A26 (I58V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2238671	NM_001379210.1(SLC25A26):c.196G>A (p.Ala66Thr)	SLC25A26 (A66T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2469606	NM_001379210.1(SLC25A26):c.265A>G (p.Met89Val)	SLC25A26 (M89V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1430019	NM_001379210.1(SLC25A26):c.298G>A (p.Val100Met)	SLC25A26 (V100M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 522130	NM_001379210.1(SLC25A26):c.301G>A (p.Val101Ile)	SLC25A26 (V101I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163658	NM_001379210.1(SLC25A26):c.313A>C (p.Ile105Leu)	SLC25A26 (I105L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2049218	NM_001379210.1(SLC25A26):c.367A>G (p.Arg123Gly)	SLC25A26 (R123G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2246226	NM_001379210.1(SLC25A26):c.386C>G (p.Ser129Cys)	SLC25A26 (S41C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163659	NM_001379210.1(SLC25A26):c.401A>T (p.Glu134Val)	SLC25A26 (E134V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284160	NM_001379210.1(SLC25A26):c.424C>T (p.Arg142Ter)	SLC25A26 (R54* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2231371	NM_001379210.1(SLC25A26):c.425G>A (p.Arg142Gln)	SLC25A26 (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1700559	NM_001379210.1(SLC25A26):c.431A>G (p.Tyr144Cys)	SLC25A26 (Y144C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2548379	NM_001379210.1(SLC25A26):c.485G>C (p.Trp162Ser)	SLC25A26 (W162S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230912	NM_001379210.1(SLC25A26):c.634-3C>A	SLC25A26	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3163660	NM_001379210.1(SLC25A26):c.650C>A (p.Ala217Asp)	SLC25A26 (A202D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521054	NM_001379210.1(SLC25A26):c.689G>A (p.Arg230Gln)	SLC25A26 (R127Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3163661	NM_001379210.1(SLC25A26):c.694C>A (p.Gln232Lys)	SLC25A26 (Q232K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478552	NM_001379210.1(SLC25A26):c.727C>A (p.Pro243Thr)	SLC25A26 (P228T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2262733	NM_001379210.1(SLC25A26):c.746G>T (p.Ser249Ile)	SLC25A26 (S234I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 377066	NM_001379210.1(SLC25A26):c.803_809del (p.Glu268fs)	SLC25A26 (E268fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2549098	NM_001379210.1(SLC25A26):c.814A>G (p.Lys272Glu)	SLC25A26 (K184E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign

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: 29