SLC25A23[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 3163628	NM_024103.3(SLC25A23):c.1376T>C (p.Met459Thr)	SLC25A23 (M459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615108	NM_024103.3(SLC25A23):c.1358A>G (p.Tyr453Cys)	SLC25A23 (Y453C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163627	NM_024103.3(SLC25A23):c.1333G>T (p.Val445Phe)	SLC25A23 (V445F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616755	NM_024103.3(SLC25A23):c.1306C>T (p.Arg436Trp)	SLC25A23 (R436W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358272	NM_024103.3(SLC25A23):c.1294C>T (p.Arg432Trp)	SLC25A23 (R432W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397972	NM_024103.3(SLC25A23):c.1258G>T (p.Gly420Cys)	SLC25A23 (G420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319210	NM_024103.3(SLC25A23):c.1189C>G (p.Leu397Val)	SLC25A23 (L397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529670	NM_024103.3(SLC25A23):c.1163C>A (p.Thr388Asn)	SLC25A23 (T388N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550357	NM_024103.3(SLC25A23):c.1126A>G (p.Ile376Val)	SLC25A23 (I376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712231	NM_024103.3(SLC25A23):c.1068C>T (p.Tyr356=)	SLC25A23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2621527	NM_024103.3(SLC25A23):c.1030G>T (p.Gly344Cys)	SLC25A23 (G344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163624	NM_024103.3(SLC25A23):c.1009G>A (p.Gly337Ser)	SLC25A23 (G337S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516761	NM_024103.3(SLC25A23):c.970C>T (p.Arg324Cys)	SLC25A23 (R324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319207	NM_024103.3(SLC25A23):c.935C>T (p.Thr312Met)	SLC25A23 (T312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313932	NM_024103.3(SLC25A23):c.929G>A (p.Arg310His)	SLC25A23 (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163638	NM_024103.3(SLC25A23):c.928C>T (p.Arg310Cys)	SLC25A23 (R310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163637	NM_024103.3(SLC25A23):c.850G>A (p.Val284Met)	SLC25A23 (V284M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163636	NM_024103.3(SLC25A23):c.827C>T (p.Thr276Ile)	SLC25A23 (T276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163635	NM_024103.3(SLC25A23):c.783G>A (p.Met261Ile)	SLC25A23 (M261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163634	NM_024103.3(SLC25A23):c.763G>A (p.Glu255Lys)	SLC25A23 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973008	NM_024103.3(SLC25A23):c.757G>A (p.Ala253Thr)	SLC25A23 (A253T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2269214	NM_024103.3(SLC25A23):c.730G>A (p.Gly244Ser)	SLC25A23 (G244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508717	NM_024103.3(SLC25A23):c.728G>A (p.Arg243His)	SLC25A23 (R243H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2649135	NM_024103.3(SLC25A23):c.678T>C (p.Leu226=)	SLC25A23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2339924	NM_024103.3(SLC25A23):c.665G>A (p.Arg222Gln)	SLC25A23 (R222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564317	NM_024103.3(SLC25A23):c.664C>T (p.Arg222Trp)	SLC25A23 (R222W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318904	NM_024103.3(SLC25A23):c.658A>G (p.Thr220Ala)	SLC25A23 (T220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163632	NM_024103.3(SLC25A23):c.649G>T (p.Ala217Ser)	SLC25A23 (A217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475246	NM_024103.3(SLC25A23):c.631G>T (p.Val211Phe)	SLC25A23 (V211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163631	NM_024103.3(SLC25A23):c.623G>A (p.Arg208His)	SLC25A23 (R208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320759	NM_024103.3(SLC25A23):c.611C>G (p.Ala204Gly)	SLC25A23 (A204G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163630	NM_024103.3(SLC25A23):c.608C>T (p.Thr203Met)	SLC25A23 (T203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550514	NM_024103.3(SLC25A23):c.503G>A (p.Cys168Tyr)	SLC25A23 (C168Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295983	NM_024103.3(SLC25A23):c.499G>A (p.Glu167Lys)	SLC25A23 (E167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280547	NM_024103.3(SLC25A23):c.482C>T (p.Thr161Met)	SLC25A23 (T161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484146	NM_024103.3(SLC25A23):c.416G>A (p.Arg139His)	SLC25A23 (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777386	NM_024103.3(SLC25A23):c.342G>A (p.Ser114=)	SLC25A23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2325810	NM_024103.3(SLC25A23):c.320G>A (p.Arg107Gln)	SLC25A23 (R107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204515	NM_024103.3(SLC25A23):c.256T>G (p.Phe86Val)	SLC25A23 (F86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373572	NM_024103.3(SLC25A23):c.242G>A (p.Arg81His)	SLC25A23 (R81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163629	NM_024103.3(SLC25A23):c.218G>A (p.Arg73His)	SLC25A23 (R73H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569716	NM_024103.3(SLC25A23):c.199G>A (p.Asp67Asn)	SLC25A23 (D67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319208	NM_024103.3(SLC25A23):c.193G>A (p.Gly65Arg)	SLC25A23 (G65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777387	NM_024103.3(SLC25A23):c.192C>T (p.Gly64=)	SLC25A23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3319209	NM_024103.3(SLC25A23):c.148G>A (p.Ala50Thr)	SLC25A23 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163626	NM_024103.3(SLC25A23):c.124G>A (p.Gly42Ser)	SLC25A23 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163625	NM_024103.3(SLC25A23):c.121C>G (p.Leu41Val)	SLC25A23 (L41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475211	NM_024103.3(SLC25A23):c.83G>A (p.Arg28His)	LOC130063290, SLC25A23 (R28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 1526654	GRCh37/hg19 19p13.3(chr19:6394117-6469834)	SLC25A41, CRB3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 62