C0342791[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678867	NM_000387.6(SLC25A20):c.843+4_843+50del	SLC25A20	Deletion (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 903642	NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)	SLC25A20 (R275Q)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic/Likely pathogenic
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 2678861	NM_000387.6(SLC25A20):c.706C>T (p.Arg236Ter)	SLC25A20 (R236*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 646763	NM_000387.6(SLC25A20):c.691G>C (p.Asp231His)	SLC25A20 (D231H)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic/Likely 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 2678873	NM_000387.6(SLC25A20):c.650dup (p.Ile218fs)	SLC25A20 (I218fs)	Duplication (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 2678871	NM_000387.6(SLC25A20):c.608+1G>A	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2678863	NM_000387.6(SLC25A20):c.542del (p.Pro181fs)	SLC25A20 (P181fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic/Likely pathogenic
Select item 596613	NM_000387.6(SLC25A20):c.536A>G (p.Asp179Gly)	SLC25A20 (D179G)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1348719	NM_000387.6(SLC25A20):c.533G>A (p.Arg178Gln)	SLC25A20 (R178Q)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic/Likely pathogenic
Select item 545967	NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter)	SLC25A20 (R178*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1301321	NM_000387.6(SLC25A20):c.528del (p.Met177fs)	SLC25A20 (M177fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2678870	NM_000387.6(SLC25A20):c.510del (p.Thr172fs)	SLC25A20 (T172fs)	Deletion (frameshift 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 12135	NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter)	SLC25A20 (R166*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency +1 more	GPathogenic
Select item 2678872	NM_000387.6(SLC25A20):c.427dup (p.Ser143fs)	SLC25A20 (S143fs)	Duplication (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 932183	NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)	SLC25A20 (R133W)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic/Likely pathogenic
Select item 2678865	NM_000387.6(SLC25A20):c.342del (p.Phe114fs)	SLC25A20 (F114fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 345943	NM_000387.6(SLC25A20):c.326+1del	SLC25A20	Deletion (splice donor variant)	Carnitine acylcarnitine translocase deficiency +1 more	GPathogenic
Select item 2678869	NM_000387.6(SLC25A20):c.306dup (p.His103fs)	SLC25A20 (H103fs)	Duplication (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2918004	NM_000387.6(SLC25A20):c.301C>T (p.Gln101Ter)	SLC25A20 (Q101*)	Single nucleotide variant (nonsense)	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 830060	NM_000387.6(SLC25A20):c.270del (p.Phe91fs)	SLC25A20 (F91fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 12137	NM_000387.6(SLC25A20):c.199-10T>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency +1 more	GPathogenic
Select item 936127	NM_000387.6(SLC25A20):c.198+2T>C	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2678875	NM_000387.6(SLC25A20):c.191_192del (p.Leu63_Phe64insTer)	SLC25A20	Deletion (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2678874	NM_000387.6(SLC25A20):c.125del (p.Pro42fs)	SLC25A20 (P42fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic/Likely 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 2678864	NM_000387.6(SLC25A20):c.105+2T>G	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 1067105	NM_000387.6(SLC25A20):c.105+1G>T	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 1302740	NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)	SLC25A20 (G28C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203941	NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)	SLC25A20 (Q4*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency +1 more	GPathogenic/Likely pathogenic

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Items: 34