SLC25A20[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 345927	NM_000387.6(SLC25A20):c.*782T>C	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 901689	NM_000387.6(SLC25A20):c.*710G>C	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 345931	NM_000387.6(SLC25A20):c.*698G>A	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GBenign
Select item 345932	NM_000387.6(SLC25A20):c.*577dup	SLC25A20	Duplication (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 345933	NM_000387.6(SLC25A20):c.*577del	SLC25A20	Deletion (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 345934	NM_000387.6(SLC25A20):c.*476G>T	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 901690	NM_000387.6(SLC25A20):c.*371T>G	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 345935	NM_000387.6(SLC25A20):c.*359C>T	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 345936	NM_000387.6(SLC25A20):c.*357C>T	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GBenign
Select item 903638	NM_000387.6(SLC25A20):c.*311C>T	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 345937	NM_000387.6(SLC25A20):c.*274C>T	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 903639	NM_000387.6(SLC25A20):c.*235T>C	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 903640	NM_000387.6(SLC25A20):c.*211T>C	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 345938	NM_000387.6(SLC25A20):c.*115G>A	SLC25A20	Single nucleotide variant (3 prime UTR variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 3036568	NM_000387.6(SLC25A20):c.*9G>T	SLC25A20	Single nucleotide variant (3 prime UTR variant)	SLC25A20-related disorder	GLikely benign
Select item 1474065	NM_000387.6(SLC25A20):c.906A>G (p.Ter302Trp)	SLC25A20	Single nucleotide variant (stop lost)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2970640	NM_000387.6(SLC25A20):c.901T>C (p.Leu301=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2861659	NM_000387.6(SLC25A20):c.899A>G (p.Asn300Ser)	SLC25A20 (N300S)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 12132	NM_000387.6(SLC25A20):c.897dup (p.Asn300fs)	SLC25A20 (N300fs)	Duplication (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2147495	NM_000387.6(SLC25A20):c.895C>G (p.Pro299Ala)	SLC25A20 (P299A)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 903641	NM_000387.6(SLC25A20):c.894C>A (p.Thr298=)	SLC25A20	Single nucleotide variant (synonymous variant)	SLC25A20-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2740814	NM_000387.6(SLC25A20):c.882T>C (p.Leu294=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2414178	NM_000387.6(SLC25A20):c.881T>C (p.Leu294Pro)	SLC25A20 (L294P)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 1970522	NM_000387.6(SLC25A20):c.868G>A (p.Ala290Thr)	SLC25A20 (A290T)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2847648	NM_000387.6(SLC25A20):c.861T>C (p.Phe287=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2066617	NM_000387.6(SLC25A20):c.854T>G (p.Leu285Arg)	SLC25A20 (L285R)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2737395	NM_000387.6(SLC25A20):c.844-5C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 1555173	NM_000387.6(SLC25A20):c.844-6T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 1628477	NM_000387.6(SLC25A20):c.844-11T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2783828	NM_000387.6(SLC25A20):c.844-12A>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 385409	NM_000387.6(SLC25A20):c.844-19C>T	SLC25A20	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 676199	NM_000387.6(SLC25A20):c.844-34G>T	SLC25A20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2678867	NM_000387.6(SLC25A20):c.843+4_843+50del	SLC25A20	Deletion (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3016642	NM_000387.6(SLC25A20):c.843+20G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GBenign
Select item 1484944	NM_000387.6(SLC25A20):c.843+4A>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 1723815	NM_000387.6(SLC25A20):c.842C>T (p.Ala281Val)	SLC25A20 (A281V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2048133	NM_000387.6(SLC25A20):c.832C>T (p.Pro278Ser)	SLC25A20 (P278S)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 903642	NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)	SLC25A20 (R275Q)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GConflicting classifications of pathogenicity
Select item 1722350	NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)	SLC25A20 (R275*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic/Likely pathogenic
Select item 2743558	NM_000387.6(SLC25A20):c.816G>A (p.Val272=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 1958211	NM_000387.6(SLC25A20):c.812C>T (p.Ala271Val)	SLC25A20 (A271V)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 639496	NM_000387.6(SLC25A20):c.804del (p.Phe269fs)	SLC25A20 (F269fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2173688	NM_000387.6(SLC25A20):c.803G>C (p.Gly268Ala)	SLC25A20 (G268A)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 639497	NM_000387.6(SLC25A20):c.803G>T (p.Gly268Val)	SLC25A20 (G268V)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2693870	NM_000387.6(SLC25A20):c.783A>C (p.Gly261=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 345940	NM_000387.6(SLC25A20):c.779_781del (p.Glu260del)	SLC25A20 (E260del)	Deletion (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 235366	NM_000387.6(SLC25A20):c.773G>A (p.Arg258Gln)	SLC25A20 (R258Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2047973	NM_000387.6(SLC25A20):c.772C>T (p.Arg258Trp)	SLC25A20 (R258W)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2701078	NM_000387.6(SLC25A20):c.771C>T (p.Ile257=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2608612	NM_000387.6(SLC25A20):c.769A>C (p.Ile257Leu)	SLC25A20 (I257L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306887	NM_000387.6(SLC25A20):c.763_764delinsAT (p.Glu255Met)	SLC25A20 (E255M)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 900044	NM_000387.6(SLC25A20):c.761G>A (p.Arg254Lys)	SLC25A20 (R254K)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 949534	NM_000387.6(SLC25A20):c.752A>G (p.Asp251Gly)	SLC25A20 (D251G)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2771088	NM_000387.6(SLC25A20):c.738T>C (p.Pro246=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2787313	NM_000387.6(SLC25A20):c.729del (p.Lys244fs)	SLC25A20 (K244fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 900045	NM_000387.6(SLC25A20):c.722C>T (p.Pro241Leu)	SLC25A20 (P241L)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 1001568	NM_000387.6(SLC25A20):c.721C>A (p.Pro241Thr)	SLC25A20 (P241T)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 378588	NM_000387.6(SLC25A20):c.720A>G (p.Ala240=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency +1 more	GLikely benign
Select item 2970301	NM_000387.6(SLC25A20):c.719-5C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 512087	NM_000387.6(SLC25A20):c.719-9G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency +1 more	GLikely benign
Select item 900046	NM_000387.6(SLC25A20):c.719-10T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GConflicting classifications of pathogenicity
Select item 2076524	NM_000387.6(SLC25A20):c.719-18T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2998717	NM_000387.6(SLC25A20):c.718+12G>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2754617	NM_000387.6(SLC25A20):c.718+12G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2734532	NM_000387.6(SLC25A20):c.718+1G>C	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2895760	NM_000387.6(SLC25A20):c.715A>G (p.Thr239Ala)	SLC25A20 (T239A)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 635295	NM_000387.6(SLC25A20):c.715A>C (p.Thr239Pro)	SLC25A20 (T239P)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 12138	NM_000387.6(SLC25A20):c.713A>G (p.Gln238Arg)	SLC25A20 (Q238R)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency +1 more	GPathogenic
Select item 2272638	NM_000387.6(SLC25A20):c.707G>A (p.Arg236Gln)	SLC25A20 (R236Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2785107	NM_000387.6(SLC25A20):c.706C>A (p.Arg236=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2678861	NM_000387.6(SLC25A20):c.706C>T (p.Arg236Ter)	SLC25A20 (R236*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2616795	NM_000387.6(SLC25A20):c.704C>T (p.Ser235Phe)	SLC25A20 (S235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 646763	NM_000387.6(SLC25A20):c.691G>C (p.Asp231His)	SLC25A20 (D231H)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 646646	NM_000387.6(SLC25A20):c.689C>T (p.Pro230Leu)	SLC25A20 (P230L)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 1035987	NM_000387.6(SLC25A20):c.682A>G (p.Ile228Val)	SLC25A20 (I228V)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2678868	NM_000387.6(SLC25A20):c.671G>A (p.Trp224Ter)	SLC25A20 (W224*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2180046	NM_000387.6(SLC25A20):c.669C>T (p.Asn223=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 656680	NM_000387.6(SLC25A20):c.668A>G (p.Asn223Ser)	SLC25A20 (N223S)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 932184	NM_000387.6(SLC25A20):c.658G>A (p.Gly220Arg)	SLC25A20 (G220R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2823995	NM_000387.6(SLC25A20):c.654T>A (p.Ile218=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2678873	NM_000387.6(SLC25A20):c.650dup (p.Ile218fs)	SLC25A20 (I218fs)	Duplication (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2023224	NM_000387.6(SLC25A20):c.647G>T (p.Gly216Val)	SLC25A20 (G216V)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2581195	NM_000387.6(SLC25A20):c.646G>T (p.Gly216Trp)	SLC25A20 (G216W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2133196	NM_000387.6(SLC25A20):c.645dup (p.Gly216fs)	SLC25A20 (G216fs)	Duplication (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2428403	NM_000387.6(SLC25A20):c.632G>A (p.Arg211Gln)	SLC25A20 (R211Q)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency +1 more	GUncertain significance
Select item 1696129	NM_000387.6(SLC25A20):c.625del (p.Ala209fs)	SLC25A20 (A209fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2140776	NM_000387.6(SLC25A20):c.619C>T (p.Leu207Phe)	SLC25A20 (L207F)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2988688	NM_000387.6(SLC25A20):c.612C>T (p.Val204=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 1990602	NM_000387.6(SLC25A20):c.611T>C (p.Val204Ala)	SLC25A20 (V204A)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2772930	NM_000387.6(SLC25A20):c.609-5T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2696590	NM_000387.6(SLC25A20):c.609-12G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2859192	NM_000387.6(SLC25A20):c.609-14T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2851242	NM_000387.6(SLC25A20):c.609-19T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 508212	NM_000387.6(SLC25A20):c.608+13_608+14del	SLC25A20	Deletion (intron variant)	not specified	GLikely benign
Select item 682522	NM_000387.6(SLC25A20):c.608+12A>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency +1 more	GLikely benign
Select item 2678871	NM_000387.6(SLC25A20):c.608+1G>A	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2897813	NM_000387.6(SLC25A20):c.600G>A (p.Glu200=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 681472	NM_000387.6(SLC25A20):c.597G>A (p.Pro199=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency +1 more	GLikely benign
Select item 655551	NM_000387.6(SLC25A20):c.596C>T (p.Pro199Leu)	SLC25A20 (P199L)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance

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