ClinVar for Gene (Select 1468) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319185	NM_012140.5(SLC25A10):c.833G>T (p.Arg278Leu)	SLC25A10 (R278L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319184	NM_012140.5(SLC25A10):c.65G>A (p.Cys22Tyr)	LOC130061967, SLC25A10 (C22Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319183	NM_012140.5(SLC25A10):c.76C>T (p.Pro26Ser)	LOC130061967, SLC25A10 (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250599	NM_012140.5(SLC25A10):c.214-6C>A	SLC25A10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3239049	NM_012140.5(SLC25A10):c.321C>T (p.Ser107=)	SLC25A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163577	NM_012140.5(SLC25A10):c.856C>G (p.Pro286Ala)	SLC25A10 (A258G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163576	NM_012140.5(SLC25A10):c.662A>G (p.Asp221Gly)	SLC25A10 (D221G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163575	NM_012140.5(SLC25A10):c.476G>A (p.Arg159Lys)	SLC25A10 (R159K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163573	NM_012140.5(SLC25A10):c.301G>A (p.Glu101Lys)	SLC25A10 (E101K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163572	NM_012140.5(SLC25A10):c.300C>G (p.His100Gln)	SLC25A10 (H100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065487	NM_012140.5(SLC25A10):c.534+5G>T	SLC25A10	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 19	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2648466	NM_012140.5(SLC25A10):c.*325G>T	SLC25A10 (G369V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2648465	NM_012140.5(SLC25A10):c.724G>A (p.Val242Met)	SLC25A10 (R214H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2648464	NM_012140.5(SLC25A10):c.628-16C>T	SLC25A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2578805	NM_012140.5(SLC25A10):c.486G>A (p.Ser162=)	SLC25A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578804	NM_012140.5(SLC25A10):c.170T>C (p.Ile57Thr)	SLC25A10 (I57T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2565818	NM_012140.5(SLC25A10):c.187G>A (p.Gly63Ser)	SLC25A10 (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547176	NM_012140.5(SLC25A10):c.457C>T (p.Arg153Cys)	SLC25A10 (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544477	NM_012140.5(SLC25A10):c.218C>T (p.Thr73Ile)	SLC25A10 (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513188	NM_012140.5(SLC25A10):c.257G>A (p.Arg86Gln)	SLC25A10 (R86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2406270	NM_012140.5(SLC25A10):c.107C>T (p.Thr36Met)	SLC25A10 (T36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401468	NM_012140.5(SLC25A10):c.166G>A (p.Gly56Ser)	SLC25A10 (G56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376994	NM_012140.5(SLC25A10):c.416G>A (p.Arg139His)	SLC25A10 (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365137	NM_012140.5(SLC25A10):c.455C>T (p.Ala152Val)	SLC25A10 (A152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362683	NM_012140.5(SLC25A10):c.784C>T (p.Arg262Cys)	SLC25A10 (R262C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345782	NM_012140.5(SLC25A10):c.279C>G (p.Ser93Arg)	SLC25A10 (S93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338049	NM_012140.5(SLC25A10):c.77C>G (p.Pro26Arg)	LOC130061967, SLC25A10 (P26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320849	NM_012140.5(SLC25A10):c.269C>T (p.Ala90Val)	SLC25A10 (A90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309377	NM_012140.5(SLC25A10):c.232C>T (p.Arg78Trp)	SLC25A10 (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298358	NM_012140.5(SLC25A10):c.407G>T (p.Gly136Val)	SLC25A10 (G136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286306	NM_012140.5(SLC25A10):c.391G>A (p.Val131Met)	SLC25A10 (V131M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261201	NM_012140.5(SLC25A10):c.19G>A (p.Val7Met)	LOC130061967, SLC25A10 (V7M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250347	NM_012140.5(SLC25A10):c.325A>G (p.Ser109Gly)	SLC25A10 (S109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708415	NM_012140.5(SLC25A10):c.762+1G>A	SLC25A10	Single nucleotide variant (splice donor variant)	See cases	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 974801	NM_012140.5(SLC25A10):c.[657C>T;763-37G>A]	SLC25A10 (P192S)	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome 19	GPathogenic
Select item 789234	NM_012140.5(SLC25A10):c.*28G>A	SLC25A10 (R270K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 780471	NM_012140.5(SLC25A10):c.*236G>A	SLC25A10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 771770	NM_012140.5(SLC25A10):c.*38G>A	SLC25A10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 768922	NM_012140.5(SLC25A10):c.*111G>A	SLC25A10 (V298I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 730939	NM_012140.5(SLC25A10):c.458G>A (p.Arg153His)	SLC25A10 (R153H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712222	NM_012140.5(SLC25A10):c.372C>T (p.Asn124=)	SLC25A10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687541	GRCh37/hg19 17q25.3(chr17:79496613-79693150)x3	ARL16, CCDC137 +9 more	Copy number gain	not provided	GUncertain significance
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 686094	GRCh37/hg19 17q25.3(chr17:79531886-79685043)x1	ARL16, CCDC137 +7 more	Copy number loss	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 446188	NM_012140.5(SLC25A10):c.763-37G>A	SLC25A10	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 19 +1 more	GBenign/Likely benign
Select item 446183	NM_012140.5(SLC25A10):c.657C>T (p.Pro219=)	SLC25A10 (P192S)	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 446176	NM_001270888.1(SLC25A10):c.[684C>T;790-37G>A]	SLC25A10 (P192S)	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex I deficiency	GLikely pathogenic
Select item 446175	NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter)	SLC25A10 (K102*)	Single nucleotide variant (nonsense)	Mitochondrial complex I deficiency +1 more	GLikely pathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 70