Related gene-specific medical variations for Gene (Select 788) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246867	NC_000003.11:g.(?_48895920)_(48897080_?)dup	SLC25A20	Duplication	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3246866	NC_000003.11:g.(?_48921410)_(48921577_?)dup	SLC25A20	Duplication	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3246865	NC_000003.11:g.(?_48895143)_(48897080_?)del	SLC25A20	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3246863	NC_000003.11:g.(?_48929393)_(48936227_?)del	SLC25A20	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3246861	NC_000003.11:g.(?_48921410)_(48921577_?)del	SLC25A20	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3240488	NM_000387.6(SLC25A20):c.297del (p.Gln100fs)	SLC25A20 (Q100fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3240487	NM_000387.6(SLC25A20):c.608+2T>C	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3240486	NM_000387.6(SLC25A20):c.500del (p.Gly167fs)	SLC25A20 (G167fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2678873	NM_000387.6(SLC25A20):c.650dup (p.Ile218fs)	SLC25A20 (I218fs)	Duplication (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2678872	NM_000387.6(SLC25A20):c.427dup (p.Ser143fs)	SLC25A20 (S143fs)	Duplication (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
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 2678870	NM_000387.6(SLC25A20):c.510del (p.Thr172fs)	SLC25A20 (T172fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2678869	NM_000387.6(SLC25A20):c.306dup (p.His103fs)	SLC25A20 (H103fs)	Duplication (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
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 2678867	NM_000387.6(SLC25A20):c.843+4_843+50del	SLC25A20	Deletion (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2678865	NM_000387.6(SLC25A20):c.342del (p.Phe114fs)	SLC25A20 (F114fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2678864	NM_000387.6(SLC25A20):c.105+2T>G	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2678862	NM_000387.6(SLC25A20):c.121C>T (p.Gln41Ter)	SLC25A20 (Q41*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 1208834	NM_000387.6(SLC25A20):c.105+210C>T	LOC129936722, SLC25A20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 374472	NM_000387.6(SLC25A20):c.138T>C (p.Pro46=)	SLC25A20	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 12134	SLC25A20, 110-BP DEL	SLC25A20	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic

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Links from Gene

Items: 21