SLC25A16[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 2546563	NM_152707.4(SLC25A16):c.934A>C (p.Ile312Leu)	SLC25A16 (I178L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2616083	NM_152707.4(SLC25A16):c.905G>A (p.Arg302His)	SLC25A16 (R302H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226742	NM_152707.4(SLC25A16):c.888T>G (p.Ile296Met)	SLC25A16 (S306A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591592	NM_152707.4(SLC25A16):c.872A>G (p.Tyr291Cys)	SLC25A16 (Y157C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253331	NM_152707.4(SLC25A16):c.851G>A (p.Arg284Gln)	SLC25A16 (R186Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356146	NM_152707.4(SLC25A16):c.797G>A (p.Arg266Gln)	SLC25A16 (R132Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487774	NM_152707.4(SLC25A16):c.794G>A (p.Arg265His)	SLC25A16 (R167H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 224813	NM_152707.4(SLC25A16):c.793C>T (p.Arg265Cys)	SLC25A16 (R265C +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral visual impairment and intellectual disability	GLikely pathogenic
Select item 2233773	NM_152707.4(SLC25A16):c.772T>C (p.Ser258Pro)	SLC25A16 (S160P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163595	NM_152707.4(SLC25A16):c.757A>G (p.Ile253Val)	SLC25A16 (I155V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620479	NM_152707.4(SLC25A16):c.683C>T (p.Pro228Leu)	SLC25A16 (P228L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371146	NM_152707.4(SLC25A16):c.469C>T (p.Arg157Cys)	SLC25A16 (R59C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382397	NM_152707.4(SLC25A16):c.352A>G (p.Lys118Glu)	SLC25A16 (K20E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623624	NM_152707.4(SLC25A16):c.287A>G (p.Asn96Ser)	SLC25A16 (N96S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2492332	NM_152707.4(SLC25A16):c.209A>T (p.His70Leu)	SLC25A16 (H70L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364224	NM_152707.4(SLC25A16):c.178G>C (p.Val60Leu)	SLC25A16 (V60L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302710	NM_152707.4(SLC25A16):c.104A>G (p.Tyr35Cys)	LOC111982863, SLC25A16 (Y35C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 545498	NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu)	LOC111982863, SLC25A16 (R31L)	Single nucleotide variant (missense variant +1 more)	autosomal recessive isolated fingernail dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 3163594	NM_152707.4(SLC25A16):c.43C>T (p.Pro15Ser)	LOC111982863, SLC25A16 (P15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	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 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GUncertain significance
Select item 1340387	GRCh37/hg19 10q21.3(chr10:70190933-70280081)x1	DNA2, SLC25A16	Copy number loss	not provided	GUncertain significance
Select item 688894	GRCh37/hg19 10q21.3(chr10:70169551-70426424)x3	DNA2, SLC25A16 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563695	GRCh37/hg19 10q21.3(chr10:70213167-70275838)x1	DNA2, SLC25A16	Copy number loss	not provided	GUncertain significance
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 444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	HERC4, HNRNPH3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 442034	GRCh37/hg19 10q21.3(chr10:70202661-70266435)x3	DNA2, SLC25A16	Copy number gain	See cases	GLikely benign
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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253875	GRCh37/hg19 10q21.3(chr10:70178856-70396017)x3	DNA2, TET1 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 41