ClinVar for Gene (Select 10166) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064872	NM_014252.4(SLC25A15):c.355_376del (p.Phe119fs)	SLC25A15 (F119fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	CCDC169-SOHLH2, CCDC70 +119 more	Copy number loss	not provided	GPathogenic
Select item 3022819	NM_014252.4(SLC25A15):c.1A>G (p.Met1Val)	SLC25A15 (M1V)	Single nucleotide variant (missense variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 3016770	NM_014252.4(SLC25A15):c.453-16C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 3014042	NM_014252.4(SLC25A15):c.354C>A (p.Ala118=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 3011369	NM_014252.4(SLC25A15):c.314+18A>G	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 3007472	NM_014252.4(SLC25A15):c.310C>T (p.Leu104=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2988368	NM_014252.4(SLC25A15):c.623-13T>C	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2973943	NM_014252.4(SLC25A15):c.489A>G (p.Lys163=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2963881	NM_014252.4(SLC25A15):c.423G>A (p.Glu141=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2919857	NM_014252.4(SLC25A15):c.55+11G>C	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2918921	NM_014252.4(SLC25A15):c.154C>T (p.Leu52=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2918660	NM_014252.4(SLC25A15):c.314+19_314+20del	SLC25A15	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2917539	NM_014252.4(SLC25A15):c.315-12G>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2917114	NM_014252.4(SLC25A15):c.55+17C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2914127	NM_014252.4(SLC25A15):c.453-2A>C	SLC25A15	Single nucleotide variant (splice acceptor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2912695	NM_014252.4(SLC25A15):c.453-12_453-11del	SLC25A15	Microsatellite (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2911421	NM_014252.4(SLC25A15):c.55+15C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2909955	NM_014252.4(SLC25A15):c.314+19C>T	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2908052	NM_014252.4(SLC25A15):c.315-17dup	SLC25A15	Duplication (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2907101	NM_014252.4(SLC25A15):c.541G>C (p.Val181Leu)	SLC25A15 (V181L)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 2902089	NM_014252.4(SLC25A15):c.207A>G (p.Pro69=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2900873	NM_014252.4(SLC25A15):c.714A>G (p.Gln238=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2900221	NM_014252.4(SLC25A15):c.56-17A>G	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2895588	NM_014252.4(SLC25A15):c.781+15G>A	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2895169	NM_014252.4(SLC25A15):c.314+12AC[3]	SLC25A15	Microsatellite (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2894895	NM_014252.4(SLC25A15):c.453-14G>C	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2892189	NM_014252.4(SLC25A15):c.781+12C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2890988	NM_014252.4(SLC25A15):c.782-20A>G	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2887832	NM_014252.4(SLC25A15):c.855G>A (p.Leu285=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2884716	NM_014252.4(SLC25A15):c.782-19C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2873399	NM_014252.4(SLC25A15):c.315-20G>C	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2862635	NM_014252.4(SLC25A15):c.693T>C (p.Asp231=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2860076	NM_014252.4(SLC25A15):c.727_730dup (p.Gly244fs)	SLC25A15 (G244fs)	Duplication (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2856575	NM_014252.4(SLC25A15):c.781+2T>A	SLC25A15	Single nucleotide variant (splice donor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2854833	NM_014252.4(SLC25A15):c.782-18C>G	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2847831	NM_014252.4(SLC25A15):c.776dup (p.Asn259fs)	SLC25A15 (N259fs)	Duplication (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2841375	NM_014252.4(SLC25A15):c.315-12G>A	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2838501	NM_014252.4(SLC25A15):c.755_756insA (p.Phe253fs)	SLC25A15 (F253fs)	Insertion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2835058	NM_014252.4(SLC25A15):c.50C>G (p.Ala17Gly)	SLC25A15 (A17G)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 2834971	NM_014252.4(SLC25A15):c.231G>A (p.Glu77=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2825343	NM_014252.4(SLC25A15):c.237A>C (p.Ser79=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2825162	NM_014252.4(SLC25A15):c.883A>G (p.Met295Val)	SLC25A15 (M295V)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 2821564	NM_014252.4(SLC25A15):c.225C>A (p.Ile75=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2821519	NM_014252.4(SLC25A15):c.624C>A (p.Gly208=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2821425	NM_014252.4(SLC25A15):c.623-9T>C	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2821010	NM_014252.4(SLC25A15):c.393G>A (p.Lys131=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2814767	NM_014252.4(SLC25A15):c.292T>C (p.Leu98=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2812395	NM_014252.4(SLC25A15):c.624C>T (p.Gly208=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2799389	NM_014252.4(SLC25A15):c.622+20C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2789319	NM_014252.4(SLC25A15):c.123T>C (p.Pro41=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2781551	NM_014252.4(SLC25A15):c.315-8G>A	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2776864	NM_014252.4(SLC25A15):c.657T>A (p.Gly219=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2768733	NM_014252.4(SLC25A15):c.56-1G>A	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2765178	NM_014252.4(SLC25A15):c.321G>T (p.Leu107=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2761658	NM_014252.4(SLC25A15):c.156G>A (p.Leu52=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2752511	NM_014252.4(SLC25A15):c.623-16T>C	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2752323	NM_014252.4(SLC25A15):c.452+19C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2750358	NM_014252.4(SLC25A15):c.56-16T>C	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2749333	NM_014252.4(SLC25A15):c.112C>T (p.Gln38Ter)	SLC25A15 (Q38*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2746768	NM_014252.4(SLC25A15):c.315-12G>C	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2743743	NM_014252.4(SLC25A15):c.201C>A (p.Thr67=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2743477	NM_014252.4(SLC25A15):c.42A>C (p.Thr14=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2740924	NM_014252.4(SLC25A15):c.623-7del	SLC25A15	Deletion (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GBenign
Select item 2738422	NM_014252.4(SLC25A15):c.55+18A>C	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2737483	NM_014252.4(SLC25A15):c.364C>T (p.Leu122=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2725329	NM_014252.4(SLC25A15):c.622+24_622+25insCATTTGCATTGACAGCA	SLC25A15	Insertion (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2724161	NM_014252.4(SLC25A15):c.669del (p.Trp224fs)	SLC25A15 (W224fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2718194	NM_014252.4(SLC25A15):c.93C>T (p.Asp31=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2713509	NM_014252.4(SLC25A15):c.594dup (p.Ala199fs)	SLC25A15 (A199fs)	Duplication (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2711196	NM_014252.4(SLC25A15):c.519C>T (p.Leu173=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2703695	NM_014252.4(SLC25A15):c.558C>T (p.Phe186=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2703544	NM_014252.4(SLC25A15):c.452+9C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2685055	GRCh37/hg19 13q14.11(chr13:41203615-41527048)x4	ELF1, FOXO1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2678860	NM_014252.4(SLC25A15):c.169C>T (p.Gln57Ter)	SLC25A15 (Q57*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678859	NM_014252.4(SLC25A15):c.265C>T (p.Gln89Ter)	SLC25A15 (Q89*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2678858	NM_014252.4(SLC25A15):c.530T>A (p.Leu177Ter)	SLC25A15 (L177*)	Single nucleotide variant (nonsense)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678857	NM_014252.4(SLC25A15):c.331_335del (p.Ala111fs)	SLC25A15 (A111fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678854	NM_014252.4(SLC25A15):c.315-2A>C	SLC25A15	Single nucleotide variant (splice acceptor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678853	NM_014252.4(SLC25A15):c.452+1del	SLC25A15	Deletion (splice donor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678852	NM_014252.4(SLC25A15):c.31_55del (p.Ile11fs)	SLC25A15 (I11fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678851	NM_014252.4(SLC25A15):c.172del (p.Val58fs)	SLC25A15 (V58fs)	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678850	NM_014252.4(SLC25A15):c.357del (p.Phe119fs)	SLC25A15 (F119fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678848	NM_014252.4(SLC25A15):c.525dup (p.Thr176fs)	SLC25A15 (T176fs)	Duplication (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2678847	NM_014252.4(SLC25A15):c.429_430del (p.Gly144fs)	SLC25A15 (G144fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678846	NM_014252.4(SLC25A15):c.95_96dup (p.Met33fs)	SLC25A15 (M33fs)	Microsatellite (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2643779	NM_014252.4(SLC25A15):c.98_101del (p.Met33fs)	SLC25A15 (M33fs)	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GPathogenic
Select item 2630601	NM_014252.4(SLC25A15):c.760_762delinsTG (p.Phe253_Ile254insTer)	SLC25A15	Indel (nonsense)	SLC25A15-related condition	GLikely pathogenic
Select item 2573729	NM_014252.4(SLC25A15):c.622+4A>G	SLC25A15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2505350	NM_014252.4(SLC25A15):c.391_395del (p.Lys131fs)	SLC25A15 (K131fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2501791	NM_014252.4(SLC25A15):c.-69-41_55+58del	SLC25A15	Deletion (splice acceptor variant +2 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2496482	NM_014252.4(SLC25A15):c.695G>T (p.Cys232Phe)	SLC25A15 (C232F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482807	NM_014252.4(SLC25A15):c.458T>C (p.Val153Ala)	SLC25A15 (V153A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435990	NM_014252.4(SLC25A15):c.584G>A (p.Arg195Gln)	SLC25A15 (R195Q)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GUncertain significance
Select item 2425929	NC_000013.10:g.(?_41379234)_(41383823_?)del	SLC25A15	Deletion	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2425928	NC_000013.10:g.(?_41367363)_(41383803_?)dup	SLC25A15	Duplication	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 2424733	NC_000013.10:g.(?_41367363)_(43181054_?)dup	AKAP11, DGKH +10 more	Duplication	not provided	GUncertain significance
Select item 2416896	NM_014252.4(SLC25A15):c.16G>C (p.Ala6Pro)	SLC25A15 (A6P)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance

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