ClinVar for MedGen (Select 91000) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3730261	NM_000387.6(SLC25A20):c.207G>A (p.Thr69=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3721804	NM_000387.6(SLC25A20):c.199-15T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3714833	NM_000387.6(SLC25A20):c.418-11C>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3703085	NM_000387.6(SLC25A20):c.33C>G (p.Leu11=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3702695	NM_000387.6(SLC25A20):c.326+16T>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3702467	NM_000387.6(SLC25A20):c.198+14G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3688751	NM_000387.6(SLC25A20):c.417+19G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3683385	NM_000387.6(SLC25A20):c.39C>T (p.Asn13=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3666591	NM_000387.6(SLC25A20):c.608+9A>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3651079	NM_000387.6(SLC25A20):c.210G>T (p.Gly70=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3643244	NM_000387.6(SLC25A20):c.296del (p.Leu99fs)	SLC25A20 (L99fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3642483	NM_000387.6(SLC25A20):c.536-1G>C	SLC25A20	Single nucleotide variant (splice acceptor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3642146	NM_000387.6(SLC25A20):c.532C>A (p.Arg178=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3641423	NM_000387.6(SLC25A20):c.114G>A (p.Leu38=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3639858	NM_000387.6(SLC25A20):c.417+18G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3638993	NM_000387.6(SLC25A20):c.219G>A (p.Arg73=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3637882	NM_000387.6(SLC25A20):c.432A>G (p.Ser144=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3624330	NM_000387.6(SLC25A20):c.541C>T (p.Pro181Ser)	SLC25A20 (P181S)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 3623161	NM_000387.6(SLC25A20):c.535+10C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3621142	NM_000387.6(SLC25A20):c.536-18T>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3603616	NM_000387.6(SLC25A20):c.587T>C (p.Ile196Thr)	SLC25A20 (I196T)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 3589301	NM_000387.6(SLC25A20):c.329_348del	SLC25A20	Deletion	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3589300	NM_000387.6(SLC25A20):c.417+2T>A	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3589299	NM_000387.6(SLC25A20):c.418-1G>T	SLC25A20	Single nucleotide variant (splice acceptor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3589297	NM_000387.6(SLC25A20):c.700_703dup (p.Ser235Ter)	SLC25A20 (S235*)	Duplication (nonsense)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3589296	NM_000387.6(SLC25A20):c.719-7_719dup	SLC25A20	Duplication (splice acceptor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3589295	NM_000387.6(SLC25A20):c.862G>T (p.Glu288Ter)	SLC25A20 (E288*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
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 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	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 3246860	NC_000003.11:g.(?_48895143)_(49213234_?)del	ARIH2, ARIH2OS +13 more	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 3021547	NM_000387.6(SLC25A20):c.109C>T (p.Arg37Ter)	SLC25A20 (R37*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic/Likely pathogenic
Select item 3020950	NM_000387.6(SLC25A20):c.129G>A (p.Pro43=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3016642	NM_000387.6(SLC25A20):c.843+20G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GBenign
Select item 3011714	NM_000387.6(SLC25A20):c.326+15G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3011441	NM_000387.6(SLC25A20):c.106-11T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3010093	NM_000387.6(SLC25A20):c.418-8C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3009589	NM_000387.6(SLC25A20):c.90T>G (p.Pro30=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3008625	NM_000387.6(SLC25A20):c.72G>T (p.Leu24=)	SLC25A20	Single nucleotide variant (synonymous 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 2998031	NM_000387.6(SLC25A20):c.402C>T (p.Ile134=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2996682	NM_000387.6(SLC25A20):c.199-14G>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2991203	NM_000387.6(SLC25A20):c.516T>C (p.Thr172=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2989230	NM_000387.6(SLC25A20):c.244del (p.Val82fs)	SLC25A20 (V82fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic/Likely pathogenic
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 2987815	NM_000387.6(SLC25A20):c.183G>A (p.Lys61=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2981788	NM_000387.6(SLC25A20):c.198+7A>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2972720	NM_000387.6(SLC25A20):c.363C>T (p.Gly121=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2971204	NM_000387.6(SLC25A20):c.199-6T>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
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 2970543	NM_000387.6(SLC25A20):c.288G>A (p.Gly96=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	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 2968316	NM_000387.6(SLC25A20):c.261C>T (p.Ala87=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency +1 more	GLikely benign
Select item 2956298	NM_000387.6(SLC25A20):c.327-20G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2955112	NM_000387.6(SLC25A20):c.326+11A>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2954997	NM_000387.6(SLC25A20):c.326+8C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
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 2897813	NM_000387.6(SLC25A20):c.600G>A (p.Glu200=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
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 2894019	NM_000387.6(SLC25A20):c.306_315del (p.His103fs)	SLC25A20 (H103fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2893178	NM_000387.6(SLC25A20):c.411A>G (p.Leu137=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2892342	NM_000387.6(SLC25A20):c.30G>A (p.Pro10=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2887092	NM_000387.6(SLC25A20):c.105+18G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2882395	NM_000387.6(SLC25A20):c.213A>G (p.Leu71=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2879918	NM_000387.6(SLC25A20):c.536-13_536-3del	SLC25A20	Deletion (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2878707	NM_000387.6(SLC25A20):c.106-8G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2871198	NM_000387.6(SLC25A20):c.415C>T (p.Gln139Ter)	SLC25A20 (Q139*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2864344	NM_000387.6(SLC25A20):c.540C>G (p.Val180=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2862419	NM_000387.6(SLC25A20):c.492G>C (p.Gly164=)	SLC25A20	Single nucleotide variant (synonymous variant)	not provided +1 more	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 2860718	NM_000387.6(SLC25A20):c.106-20A>C	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 2851643	NM_000387.6(SLC25A20):c.363C>G (p.Gly121=)	SLC25A20	Single nucleotide variant (synonymous 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 2847648	NM_000387.6(SLC25A20):c.861T>C (p.Phe287=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2845583	NM_000387.6(SLC25A20):c.432A>C (p.Ser144=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2842850	NM_000387.6(SLC25A20):c.201C>T (p.Gly67=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2842438	NM_000387.6(SLC25A20):c.525C>T (p.Thr175=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2842375	NM_000387.6(SLC25A20):c.199-5del	SLC25A20	Deletion (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2841658	NM_000387.6(SLC25A20):c.294A>G (p.Lys98=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2840955	NM_000387.6(SLC25A20):c.105+15G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2838550	NM_000387.6(SLC25A20):c.51C>A (p.Gly17=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
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 2822351	NM_000387.6(SLC25A20):c.211del (p.Leu71fs)	SLC25A20 (L71fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2813880	NM_000387.6(SLC25A20):c.486G>A (p.Glu162=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2813053	NM_000387.6(SLC25A20):c.106-4T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2805560	NM_000387.6(SLC25A20):c.198G>A (p.Glu66=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2794711	NM_000387.6(SLC25A20):c.106-7T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2790312	NM_000387.6(SLC25A20):c.199-7C>T	SLC25A20	Single nucleotide variant (intron 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 2785107	NM_000387.6(SLC25A20):c.706C>A (p.Arg236=)	SLC25A20	Single nucleotide variant (synonymous 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 2782335	NM_000387.6(SLC25A20):c.237C>T (p.Ile79=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2781289	NM_000387.6(SLC25A20):c.394G>T (p.Glu132Ter)	SLC25A20 (E132*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic

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