115286[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 152120	GRCh38/hg38 3p14.1(chr3:65485083-67218667)x3	KBTBD8, LOC105377143 +31 more	Copy number gain	See cases	GUncertain significance
Select item 148873	GRCh38/hg38 3p14.1(chr3:65536355-66319200)x3	LOC123000067, LOC123000068 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57732	GRCh38/hg38 3p14.1(chr3:65790274-66728325)x3	LOC111562376, LOC123000067 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146835	GRCh38/hg38 3p14.1(chr3:65939499-66269258)x3	LOC123000069, LOC126806705 +6 more	Copy number gain	See cases	GLikely benign
Select item 683875	NM_173471.4(SLC25A26):c.-353-217G>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683876	NM_173471.4(SLC25A26):c.-353-207C>T	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673256	NM_173471.4(SLC25A26):c.-353-199G>A	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673257	NM_173471.4(SLC25A26):c.-352T>A	LOC129936985, SLC25A26	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 672649	NM_173471.4(SLC25A26):c.-274C>G	SLC25A26	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1225345	NM_173471.4(SLC25A26):c.-223C>A	SLC25A26	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1315924	NM_173471.4(SLC25A26):c.-198C>G	SLC25A26	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1316778	NM_173471.4(SLC25A26):c.-150G>T	LOC129936986, SLC25A26	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 673777	NM_001379210.1(SLC25A26):c.-48C>T	SLC25A26	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2637851	NM_001379210.1(SLC25A26):c.-13G>A	SLC25A26	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2377618	NM_001379210.1(SLC25A26):c.4G>T (p.Asp2Tyr)	SLC25A26 (D2Y)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1316806	NM_001379210.1(SLC25A26):c.33G>A (p.Val11=)	SLC25A26	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 222009	NM_001379210.1(SLC25A26):c.33+1G>A	SLC25A26	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 673258	NM_001379210.1(SLC25A26):c.33+37C>T	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316865	NM_001379210.1(SLC25A26):c.33+48C>T	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673805	NM_001379210.1(SLC25A26):c.33+50T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671577	NM_001379210.1(SLC25A26):c.33+64=	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317015	NM_001379210.1(SLC25A26):c.33+192C>T	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671578	NM_001379210.1(SLC25A26):c.33+231=	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683877	NM_001379210.1(SLC25A26):c.34-310G>A	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683879	NM_001379210.1(SLC25A26):c.34-291G>A	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316695	NM_001379210.1(SLC25A26):c.34-271T>G	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320563	NM_001379210.1(SLC25A26):c.34-220A>G	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673259	NM_001379210.1(SLC25A26):c.34-160G>A	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683880	NM_001379210.1(SLC25A26):c.34-137G>T	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683881	NM_001379210.1(SLC25A26):c.34-136C>G	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1334372	NM_001379210.1(SLC25A26):c.34-4A>G	SLC25A26	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3045209	NM_001379210.1(SLC25A26):c.42G>A (p.Gly14=)	SLC25A26	Single nucleotide variant (synonymous variant +3 more)	SLC25A26-related disorder	GLikely benign
Select item 1317386	NM_001379210.1(SLC25A26):c.45A>G (p.Val15=)	SLC25A26	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3163662	NM_001379210.1(SLC25A26):c.69A>G (p.Ile23Met)	SLC25A26 (I23M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2471250	NM_001379210.1(SLC25A26):c.88A>G (p.Ile30Val)	SLC25A26 (I30V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3163657	NM_001379210.1(SLC25A26):c.108T>A (p.Ser36Arg)	SLC25A26 (S36R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 683883	NM_001379210.1(SLC25A26):c.122G>A (p.Ser41Asn)	SLC25A26 (S41N)	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation deficiency 28 +1 more	GBenign
Select item 2472208	NM_001379210.1(SLC25A26):c.148T>C (p.Tyr50His)	SLC25A26 (Y50H)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2231724	NM_001379210.1(SLC25A26):c.155G>A (p.Gly52Asp)	SLC25A26 (G52D)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3054590	NM_001379210.1(SLC25A26):c.156C>T (p.Gly52=)	SLC25A26	Single nucleotide variant (synonymous variant +3 more)	SLC25A26-related disorder	GLikely benign
Select item 2606065	NM_001379210.1(SLC25A26):c.157G>A (p.Val53Ile)	SLC25A26 (V53I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2534004	NM_001379210.1(SLC25A26):c.172A>G (p.Ile58Val)	SLC25A26 (I58V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 1316753	NM_001379210.1(SLC25A26):c.190+10T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683884	NM_001379210.1(SLC25A26):c.190+210A>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683886	NM_001379210.1(SLC25A26):c.190+239A>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683888	NM_001379210.1(SLC25A26):c.190+293T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683890	NM_001379210.1(SLC25A26):c.191-147G>A	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671600	NM_001379210.1(SLC25A26):c.191-45T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2637850	NM_001379210.1(SLC25A26):c.191-1G>T	SLC25A26	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 28	GLikely pathogenic
Select item 2238671	NM_001379210.1(SLC25A26):c.196G>A (p.Ala66Thr)	SLC25A26 (A66T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 672596	NM_001379210.1(SLC25A26):c.252A>G (p.Ser84=)	SLC25A26	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2469606	NM_001379210.1(SLC25A26):c.265A>G (p.Met89Val)	SLC25A26 (M89V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2053502	NM_001379210.1(SLC25A26):c.285C>G (p.Ala95=)	SLC25A26	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1723103	NM_001379210.1(SLC25A26):c.287C>G (p.Ser96Cys)	SLC25A26 (S8C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1430019	NM_001379210.1(SLC25A26):c.298G>A (p.Val100Met)	SLC25A26 (V100M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 683892	NM_001379210.1(SLC25A26):c.300+30T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683893	NM_001379210.1(SLC25A26):c.300+50A>G	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683896	NM_001379210.1(SLC25A26):c.300+115T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281588	NM_001379210.1(SLC25A26):c.301-307T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683897	NM_001379210.1(SLC25A26):c.301-157C>A	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316216	NM_001379210.1(SLC25A26):c.301-129del	SLC25A26	Deletion (intron variant)	not provided	GLikely benign
Select item 522130	NM_001379210.1(SLC25A26):c.301G>A (p.Val101Ile)	SLC25A26 (V101I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 222007	NM_001379210.1(SLC25A26):c.305C>T (p.Ala102Val)	SLC25A26 (A102V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 28	GPathogenic
Select item 3163658	NM_001379210.1(SLC25A26):c.313A>C (p.Ile105Leu)	SLC25A26 (I105L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1346874	NM_001379210.1(SLC25A26):c.362C>T (p.Ser121Phe)	SLC25A26 (S33F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049218	NM_001379210.1(SLC25A26):c.367A>G (p.Arg123Gly)	SLC25A26 (R123G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1424598	NM_001379210.1(SLC25A26):c.370A>G (p.Thr124Ala)	SLC25A26 (T124A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2018181	NM_001379210.1(SLC25A26):c.377A>C (p.Gln126Pro)	SLC25A26 (Q38P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2246226	NM_001379210.1(SLC25A26):c.386C>G (p.Ser129Cys)	SLC25A26 (S41C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1677970	NM_001379210.1(SLC25A26):c.386C>A (p.Ser129Tyr)	SLC25A26 (S129Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3163659	NM_001379210.1(SLC25A26):c.401A>T (p.Glu134Val)	SLC25A26 (E134V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1932321	NM_001379210.1(SLC25A26):c.405+11T>G	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907004	NM_001379210.1(SLC25A26):c.405+11T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674166	NM_001379210.1(SLC25A26):c.405+260G>A	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174317	NM_001379210.1(SLC25A26):c.406-156C>A	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631538	NM_001379210.1(SLC25A26):c.406-20C>T	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896368	NM_001379210.1(SLC25A26):c.406-19G>A	SLC25A26	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 743052	NM_001379210.1(SLC25A26):c.406-7G>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756061	NM_001379210.1(SLC25A26):c.417G>T (p.Gly139=)	SLC25A26	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2284160	NM_001379210.1(SLC25A26):c.424C>T (p.Arg142Ter)	SLC25A26 (R54* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2231371	NM_001379210.1(SLC25A26):c.425G>A (p.Arg142Gln)	SLC25A26 (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1700559	NM_001379210.1(SLC25A26):c.431A>G (p.Tyr144Cys)	SLC25A26 (Y144C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 222006	NM_001379210.1(SLC25A26):c.443T>G (p.Val148Gly)	SLC25A26 (V148G +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 28	GPathogenic
Select item 723980	NM_001379210.1(SLC25A26):c.445T>G (p.Leu149Val)	SLC25A26 (L149V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 669569	NM_001379210.1(SLC25A26):c.453+283TTTG[3]	SLC25A26	Microsatellite (intron variant)	not provided	GBenign
Select item 673403	NM_001379210.1(SLC25A26):c.453+310C>T	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683903	NM_001379210.1(SLC25A26):c.454-308G>T	SLC25A26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2969745	NM_001379210.1(SLC25A26):c.454-12T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747568	NM_001379210.1(SLC25A26):c.454-7T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821404	NM_001379210.1(SLC25A26):c.454-4T>C	SLC25A26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2548379	NM_001379210.1(SLC25A26):c.485G>C (p.Trp162Ser)	SLC25A26 (W162S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3319219	NM_001379210.1(SLC25A26):c.487G>A (p.Glu163Lys)	SLC25A26 (E163K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 683906	NM_001379210.1(SLC25A26):c.498+13G>A	SLC25A26	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 672597	NM_001379210.1(SLC25A26):c.498+68_498+76dup	SLC25A26	Duplication (intron variant)	not provided	GBenign
Select item 1318363	NM_001379210.1(SLC25A26):c.498+308GT[25]	SLC25A26	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1174475	NM_001379210.1(SLC25A26):c.498+308GT[24]	SLC25A26	Microsatellite (intron variant)	not provided	GBenign
Select item 1283584	NM_001379210.1(SLC25A26):c.498+308GT[22]	SLC25A26	Microsatellite (intron variant)	not provided	GBenign

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