SLC25A34[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 3319229	NM_207348.3(SLC25A34):c.16C>T (p.Pro6Ser)	SLC25A34 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163701	NM_207348.3(SLC25A34):c.59C>G (p.Ala20Gly)	SLC25A34 (A20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394935	NM_207348.3(SLC25A34):c.157T>C (p.Phe53Leu)	SLC25A34 (F53L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228422	NM_207348.3(SLC25A34):c.172G>A (p.Ala58Thr)	SLC25A34 (A58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319228	NM_207348.3(SLC25A34):c.256G>A (p.Val86Ile)	SLC25A34 (V86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375151	NM_207348.3(SLC25A34):c.290C>A (p.Ala97Asp)	SLC25A34 (A97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319232	NM_207348.3(SLC25A34):c.304C>G (p.Gln102Glu)	SLC25A34 (Q102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474052	NM_207348.3(SLC25A34):c.386C>T (p.Thr129Met)	SLC25A34 (T129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163698	NM_207348.3(SLC25A34):c.436A>G (p.Asn146Asp)	SLC25A34 (N146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319231	NM_207348.3(SLC25A34):c.437A>G (p.Asn146Ser)	SLC25A34 (N146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163699	NM_207348.3(SLC25A34):c.439C>T (p.His147Tyr)	SLC25A34 (H147Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350441	NM_207348.3(SLC25A34):c.476G>A (p.Arg159Gln)	SLC25A34 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319230	NM_207348.3(SLC25A34):c.503A>G (p.Gln168Arg)	SLC25A34 (Q168R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344113	NM_207348.3(SLC25A34):c.508G>A (p.Val170Ile)	SLC25A34 (V170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537935	NM_207348.3(SLC25A34):c.524C>G (p.Pro175Arg)	SLC25A34 (P175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250949	NM_207348.3(SLC25A34):c.533T>C (p.Met178Thr)	SLC25A34 (M178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163700	NM_207348.3(SLC25A34):c.548C>T (p.Ala183Val)	SLC25A34 (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548658	NM_207348.3(SLC25A34):c.564C>G (p.Phe188Leu)	SLC25A34 (F188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524230	NM_207348.3(SLC25A34):c.565G>A (p.Ala189Thr)	SLC25A34 (A189T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377795	NM_207348.3(SLC25A34):c.682G>A (p.Asp228Asn)	SLC25A34 (D228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402590	NM_207348.3(SLC25A34):c.698G>A (p.Arg233Gln)	SLC25A34 (R233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227135	NM_207348.3(SLC25A34):c.755C>T (p.Thr252Ile)	SLC25A34 (T252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567589	NM_207348.3(SLC25A34):c.763A>G (p.Met255Val)	SLC25A34 (M255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392404	NM_207348.3(SLC25A34):c.778C>T (p.Arg260Trp)	SLC25A34 (R260W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163702	NM_207348.3(SLC25A34):c.820G>A (p.Ala274Thr)	SLC25A34 (A274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163703	NM_207348.3(SLC25A34):c.829C>T (p.Arg277Cys)	SLC25A34 (R277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163704	NM_207348.3(SLC25A34):c.830G>A (p.Arg277His)	SLC25A34 (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366638	NM_207348.3(SLC25A34):c.832C>A (p.Leu278Met)	SLC25A34 (L278M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317753	NM_207348.3(SLC25A34):c.877C>T (p.Arg293Trp)	SLC25A34 (R293W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596760	NM_207348.3(SLC25A34):c.887C>T (p.Ala296Val)	SLC25A34 (A296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584380	NC_000001.10:g.(?_15764961)_(16063358_?)del	AGMAT, CASP9 +8 more	Deletion	Hereditary pancreatitis	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395619	GRCh37/hg19 1p36.21(chr1:16049118-16074442)x3	PLEKHM2, SLC25A34 +1 more	Copy number gain	See cases	GUncertain significance
Select item 394955	GRCh37/hg19 1p36.21(chr1:16063224-16073441)x3	SLC25A34, TMEM82	Copy number gain	See cases	GLikely benign
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 61