SLC25A28[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 3163665	NM_031212.4(SLC25A28):c.1025C>T (p.Ala342Val)	SLC25A28 (A342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514985	NM_031212.4(SLC25A28):c.1006A>G (p.Ile336Val)	SLC25A28 (I336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163672	NM_031212.4(SLC25A28):c.964A>G (p.Thr322Ala)	SLC25A28 (T322A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290453	NM_031212.4(SLC25A28):c.952G>A (p.Val318Ile)	SLC25A28 (V318I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282524	NM_031212.4(SLC25A28):c.820G>A (p.Val274Ile)	SLC25A28 (V274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346983	NM_031212.4(SLC25A28):c.178G>A (p.Gly60Ser)	SLC25A28 (G60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163669	NM_031212.4(SLC25A28):c.151C>G (p.Pro51Ala)	SLC25A28 (P51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365394	NM_031212.4(SLC25A28):c.134A>T (p.Glu45Val)	SLC25A28 (E45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360321	NM_031212.4(SLC25A28):c.134A>G (p.Glu45Gly)	SLC25A28 (E45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358954	NM_031212.4(SLC25A28):c.134A>C (p.Glu45Ala)	SLC25A28 (E45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163668	NM_031212.4(SLC25A28):c.122C>G (p.Ala41Gly)	SLC25A28 (A41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163667	NM_031212.4(SLC25A28):c.121G>A (p.Ala41Thr)	SLC25A28 (A41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163666	NM_031212.4(SLC25A28):c.116G>T (p.Arg39Leu)	SLC25A28 (R39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358925	NM_031212.4(SLC25A28):c.110T>G (p.Val37Gly)	SLC25A28 (V37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337905	NM_031212.4(SLC25A28):c.80C>T (p.Ala27Val)	SLC25A28 (A27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163671	NM_031212.4(SLC25A28):c.43C>T (p.Pro15Ser)	SLC25A28 (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163670	NM_031212.4(SLC25A28):c.35C>T (p.Ala12Val)	SLC25A28 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206708	NM_031212.4(SLC25A28):c.32T>G (p.Val11Gly)	SLC25A28 (V11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 1460184	NC_000010.10:g.(?_100177321)_(101611388_?)del	SLC25A28, HPS1 +8 more	Deletion	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 36