SLC25A31[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148326	GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1	ABHD18, HSPA4L +22 more	Copy number loss	See cases	GUncertain significance
Select item 152772	GRCh38/hg38 4q28.1(chr4:127699317-127837482)x1	HSPA4L, INTU +7 more	Copy number loss	See cases	GUncertain significance
Select item 3163684	NM_031291.4(SLC25A31):c.14C>T (p.Pro5Leu)	SLC25A31 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163683	NM_031291.4(SLC25A31):c.104A>G (p.Lys35Arg)	SLC25A31 (K35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546842	NM_031291.4(SLC25A31):c.127C>T (p.Arg43Trp)	SLC25A31 (R43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315792	NM_031291.4(SLC25A31):c.206G>A (p.Cys69Tyr)	SLC25A31 (C69Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345534	NM_031291.4(SLC25A31):c.208C>G (p.Leu70Val)	SLC25A31 (L70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357249	NM_031291.4(SLC25A31):c.278A>G (p.Tyr93Cys)	SLC25A31 (Y93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304125	NM_031291.4(SLC25A31):c.363C>G (p.Phe121Leu)	SLC25A31 (F121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375964	NM_031291.4(SLC25A31):c.366G>T (p.Trp122Cys)	SLC25A31 (W122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557738	NM_031291.4(SLC25A31):c.403G>T (p.Ala135Ser)	SLC25A31 (A135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163685	NM_031291.4(SLC25A31):c.466G>A (p.Asp156Asn)	SLC25A31 (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328540	NM_031291.4(SLC25A31):c.523A>C (p.Lys175Gln)	SLC25A31 (K175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366131	NM_031291.4(SLC25A31):c.662C>T (p.Pro221Leu)	SLC25A31 (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163686	NM_031291.4(SLC25A31):c.715C>T (p.Leu239Phe)	SLC25A31 (L239F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371966	NM_031291.4(SLC25A31):c.734C>T (p.Thr245Ile)	SLC25A31 (T245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349605	NM_031291.4(SLC25A31):c.775C>T (p.Arg259Trp)	SLC25A31 (R259W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3319224	NM_031291.4(SLC25A31):c.859A>G (p.Asn287Asp)	SLC25A31 (N287D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2204130	NM_031291.4(SLC25A31):c.926A>G (p.His309Arg)	SLC25A31 (H309R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1069575	NC_000004.11:g.(?_128544537)_(129131208_?)del	LARP1B, INTU +5 more	Deletion	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 1042914	NC_000004.11:g.(?_128554190)_(128886288_?)dup	HSPA4L, INTU +3 more	Duplication	not provided	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 686604	GRCh37/hg19 4q28.1(chr4:128597686-128681332)x3	INTU, SLC25A31	Copy number gain	not provided	GUncertain significance
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 47