ClinVar for MedGen (Select 82815) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25053501.	NM_014252.4(SLC25A15):c.391_395del (p.Lys131fs) GRCh37: Chr13:41379327-41379331 GRCh38: Chr13:40805191-40805195	SLC25A15	K131fs	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 25017912.	NM_014252.4(SLC25A15):c.-69-41_55+58del GRCh37: Chr13:41367252-41367474 GRCh38: Chr13:40793116-40793338	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely pathogenic (May 8, 2023)	criteria provided, single submitter
Select item 24359903.	NM_014252.4(SLC25A15):c.584G>A (p.Arg195Gln) GRCh37: Chr13:41381561 GRCh38: Chr13:40807425	SLC25A15	R195Q	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Inborn genetic diseases	Uncertain significance (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24259294.	NC_000013.10:g.(?_41379234)_(41383823_?)del GRCh37: Chr13:41379234-41383823	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 24259285.	NC_000013.10:g.(?_41367363)_(41383803_?)dup GRCh37: Chr13:41367363-41383803	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 24168966.	NM_014252.4(SLC25A15):c.16G>C (p.Ala6Pro) GRCh37: Chr13:41367378 GRCh38: Chr13:40793242	SLC25A15	A6P	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 22010127.	NM_014252.4(SLC25A15):c.782-6del GRCh37: Chr13:41383671 GRCh38: Chr13:40809535	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 21781958.	NM_014252.4(SLC25A15):c.623-5del GRCh37: Chr13:41382569 GRCh38: Chr13:40808433	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 21726039.	NM_014252.4(SLC25A15):c.11A>G (p.Asn4Ser) GRCh37: Chr13:41367373 GRCh38: Chr13:40793237	SLC25A15	N4S	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 216640210.	NM_014252.4(SLC25A15):c.294G>A (p.Leu98=) GRCh37: Chr13:41373431 GRCh38: Chr13:40799295	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 216283911.	NM_014252.4(SLC25A15):c.443A>T (p.Lys148Met) GRCh37: Chr13:41379382 GRCh38: Chr13:40805246	SLC25A15	K148M	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Mar 30, 2022)	criteria provided, single submitter
Select item 216231712.	NM_014252.4(SLC25A15):c.387C>G (p.Leu129=) GRCh37: Chr13:41379326 GRCh38: Chr13:40805190	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 216156513.	NM_014252.4(SLC25A15):c.631C>T (p.Pro211Ser) GRCh37: Chr13:41382582 GRCh38: Chr13:40808446	SLC25A15	P211S	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 216036214.	NM_014252.4(SLC25A15):c.512A>G (p.His171Arg) GRCh37: Chr13:41381489 GRCh38: Chr13:40807353	SLC25A15	H171R	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 213942415.	NM_014252.4(SLC25A15):c.56-15_56-14del GRCh37: Chr13:41373177-41373178 GRCh38: Chr13:40799041-40799042	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Benign (Oct 3, 2022)	criteria provided, single submitter
Select item 213749016.	NM_014252.4(SLC25A15):c.781+1G>A GRCh37: Chr13:41382733 GRCh38: Chr13:40808597	SLC25A15		SLC25A15-related condition, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213497917.	NM_014252.4(SLC25A15):c.258C>T (p.Gly86=) GRCh37: Chr13:41373395 GRCh38: Chr13:40799259	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 212292918.	NM_014252.4(SLC25A15):c.900A>T (p.Ala300=) GRCh37: Chr13:41383797 GRCh38: Chr13:40809661	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212290419.	NM_014252.4(SLC25A15):c.403C>T (p.Gln135Ter) GRCh37: Chr13:41379342 GRCh38: Chr13:40805206	SLC25A15	Q135*	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 212231420.	NM_014252.4(SLC25A15):c.213A>G (p.Leu71=) GRCh37: Chr13:41373350 GRCh38: Chr13:40799214	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 211570521.	NM_014252.4(SLC25A15):c.56-9T>C GRCh37: Chr13:41373184 GRCh38: Chr13:40799048	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 211504122.	NM_014252.4(SLC25A15):c.363A>C (p.Ala121=) GRCh37: Chr13:41379302 GRCh38: Chr13:40805166	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 211033923.	NM_014252.4(SLC25A15):c.70G>A (p.Val24Ile) GRCh37: Chr13:41373207 GRCh38: Chr13:40799071	SLC25A15	V24I	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 206976224.	NM_014252.4(SLC25A15):c.172G>A (p.Val58Met) GRCh37: Chr13:41373309 GRCh38: Chr13:40799173	SLC25A15	V58M	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 206699125.	NM_014252.4(SLC25A15):c.866A>G (p.Tyr289Cys) GRCh37: Chr13:41383763 GRCh38: Chr13:40809627	SLC25A15	Y289C	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 205897226.	NM_014252.4(SLC25A15):c.95C>T (p.Thr32Ile) GRCh37: Chr13:41373232 GRCh38: Chr13:40799096	SLC25A15	T32I	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 204486227.	NM_014252.4(SLC25A15):c.800C>G (p.Ser267Cys) GRCh37: Chr13:41383697 GRCh38: Chr13:40809561	SLC25A15	S267C	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 204451028.	NM_014252.4(SLC25A15):c.453-19T>C GRCh37: Chr13:41381411 GRCh38: Chr13:40807275	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 203871229.	NM_014252.4(SLC25A15):c.715G>A (p.Val239Ile) GRCh37: Chr13:41382666 GRCh38: Chr13:40808530	SLC25A15	V239I	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 203440030.	NM_014252.4(SLC25A15):c.699C>T (p.Ile233=) GRCh37: Chr13:41382650 GRCh38: Chr13:40808514	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 202909331.	NM_014252.4(SLC25A15):c.391A>C (p.Lys131Gln) GRCh37: Chr13:41379330 GRCh38: Chr13:40805194	SLC25A15	K131Q	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 202886332.	NM_014252.4(SLC25A15):c.326_452+374del GRCh37: Chr13:41379262-41379762 GRCh38: Chr13:40805126-40805626	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 202231433.	NM_014252.4(SLC25A15):c.623-5T>C GRCh37: Chr13:41382569 GRCh38: Chr13:40808433	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202206134.	NM_014252.4(SLC25A15):c.303G>A (p.Gln101=) GRCh37: Chr13:41373440 GRCh38: Chr13:40799304	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 202041735.	NM_014252.4(SLC25A15):c.315-14T>G GRCh37: Chr13:41379240 GRCh38: Chr13:40805104	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 201885836.	NM_014252.4(SLC25A15):c.120C>T (p.Phe40=) GRCh37: Chr13:41373257 GRCh38: Chr13:40799121	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201580837.	NM_014252.4(SLC25A15):c.891G>A (p.Gln297=) GRCh37: Chr13:41383788 GRCh38: Chr13:40809652	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 201175138.	NM_014252.4(SLC25A15):c.633T>G (p.Pro211=) GRCh37: Chr13:41382584 GRCh38: Chr13:40808448	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 201018139.	NM_014252.4(SLC25A15):c.286G>T (p.Ala96Ser) GRCh37: Chr13:41373423 GRCh38: Chr13:40799287	SLC25A15	A96S	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200503940.	NM_014252.4(SLC25A15):c.339T>A (p.Gly113=) GRCh37: Chr13:41379278 GRCh38: Chr13:40805142	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 200351841.	NM_014252.4(SLC25A15):c.300G>A (p.Lys100=) GRCh37: Chr13:41373437 GRCh38: Chr13:40799301	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 199406742.	NM_014252.4(SLC25A15):c.554T>C (p.Phe185Ser) GRCh37: Chr13:41381531 GRCh38: Chr13:40807395	SLC25A15	F185S	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 199182643.	NM_014252.4(SLC25A15):c.507C>T (p.Phe169=) GRCh37: Chr13:41381484 GRCh38: Chr13:40807348	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 199004244.	NM_014252.4(SLC25A15):c.73C>T (p.Leu25=) GRCh37: Chr13:41373210 GRCh38: Chr13:40799074	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 197939045.	NM_014252.4(SLC25A15):c.217G>T (p.Ala73Ser) GRCh37: Chr13:41373354 GRCh38: Chr13:40799218	SLC25A15	A73S	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 197818746.	NM_014252.4(SLC25A15):c.97del (p.Thr32_Met33insTer) GRCh37: Chr13:41373233 GRCh38: Chr13:40799097	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 197674447.	NM_014252.4(SLC25A15):c.326del (p.Asn109fs) GRCh37: Chr13:41379264 GRCh38: Chr13:40805128	SLC25A15	N109fs	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 195797248.	NM_014252.4(SLC25A15):c.723C>T (p.Ser241=) GRCh37: Chr13:41382674 GRCh38: Chr13:40808538	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 195123349.	NM_014252.4(SLC25A15):c.56G>C (p.Gly19Ala) GRCh37: Chr13:41373193 GRCh38: Chr13:40799057	SLC25A15	G19A	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 193113050.	NM_014252.4(SLC25A15):c.248T>C (p.Met83Thr) GRCh37: Chr13:41373385 GRCh38: Chr13:40799249	SLC25A15	M83T	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 192136751.	NM_014252.4(SLC25A15):c.191A>T (p.Tyr64Phe) GRCh37: Chr13:41373328 GRCh38: Chr13:40799192	SLC25A15	Y64F	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 192082652.	NM_014252.4(SLC25A15):c.56-13G>T GRCh37: Chr13:41373180 GRCh38: Chr13:40799044	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 191067953.	NM_014252.4(SLC25A15):c.585G>A (p.Arg195=) GRCh37: Chr13:41381562 GRCh38: Chr13:40807426	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 190726354.	NM_014252.4(SLC25A15):c.56-6T>C GRCh37: Chr13:41373187 GRCh38: Chr13:40799051	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 172242655.	NM_014252.4(SLC25A15):c.862dup (p.Glu288fs) GRCh37: Chr13:41383758-41383759 GRCh38: Chr13:40809622-40809623	SLC25A15	E288fs	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Sep 8, 2022)	criteria provided, single submitter
Select item 167353056.	NM_014252.4(SLC25A15):c.760A>C (p.Ile254Leu) GRCh37: Chr13:41382711 GRCh38: Chr13:40808575	SLC25A15	I254L	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 167219657.	NM_014252.4(SLC25A15):c.216C>A (p.Ile72=) GRCh37: Chr13:41373353 GRCh38: Chr13:40799217	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Oct 3, 2021)	criteria provided, single submitter
Select item 165868858.	NM_014252.4(SLC25A15):c.905G>A (p.Ter302=) GRCh37: Chr13:41383802 GRCh38: Chr13:40809666	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Dec 7, 2020)	criteria provided, single submitter
Select item 164738659.	NM_014252.4(SLC25A15):c.588C>T (p.Ser196=) GRCh37: Chr13:41381565 GRCh38: Chr13:40807429	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Nov 2, 2020)	criteria provided, single submitter
Select item 164609860.	NM_014252.4(SLC25A15):c.21C>T (p.Ile7=) GRCh37: Chr13:41367383 GRCh38: Chr13:40793247	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Dec 25, 2020)	criteria provided, single submitter
Select item 164484761.	NM_014252.4(SLC25A15):c.314+17C>A GRCh37: Chr13:41373468 GRCh38: Chr13:40799332	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Sep 18, 2021)	criteria provided, single submitter
Select item 163572362.	NM_014252.4(SLC25A15):c.243C>T (p.Leu81=) GRCh37: Chr13:41373380 GRCh38: Chr13:40799244	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Feb 21, 2021)	criteria provided, single submitter
Select item 162716163.	NM_014252.4(SLC25A15):c.69T>C (p.Cys23=) GRCh37: Chr13:41373206 GRCh38: Chr13:40799070	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Aug 6, 2021)	criteria provided, single submitter
Select item 162470764.	NM_014252.4(SLC25A15):c.55+8C>T GRCh37: Chr13:41367425 GRCh38: Chr13:40793289	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 160571665.	NM_014252.4(SLC25A15):c.452+7A>G GRCh37: Chr13:41379398 GRCh38: Chr13:40805262	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Sep 19, 2021)	criteria provided, single submitter
Select item 160393966.	NM_014252.4(SLC25A15):c.105G>T (p.Val35=) GRCh37: Chr13:41373242 GRCh38: Chr13:40799106	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 6, 2021)	criteria provided, single submitter
Select item 159782467.	NM_014252.4(SLC25A15):c.782-18C>T GRCh37: Chr13:41383661 GRCh38: Chr13:40809525	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jul 25, 2021)	criteria provided, single submitter
Select item 159237668.	NM_014252.4(SLC25A15):c.597A>G (p.Ala199=) GRCh37: Chr13:41381574 GRCh38: Chr13:40807438	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 159234669.	NM_014252.4(SLC25A15):c.623-17A>T GRCh37: Chr13:41382557 GRCh38: Chr13:40808421	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 158274470.	NM_014252.4(SLC25A15):c.681A>G (p.Val227=) GRCh37: Chr13:41382632 GRCh38: Chr13:40808496	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 157995571.	NM_014252.4(SLC25A15):c.246C>T (p.Phe82=) GRCh37: Chr13:41373383 GRCh38: Chr13:40799247	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 157500572.	NM_014252.4(SLC25A15):c.400C>T (p.Leu134=) GRCh37: Chr13:41379339 GRCh38: Chr13:40805203	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jul 30, 2021)	criteria provided, single submitter
Select item 157069673.	NM_014252.4(SLC25A15):c.372C>T (p.Leu124=) GRCh37: Chr13:41379311 GRCh38: Chr13:40805175	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 156817674.	NM_014252.4(SLC25A15):c.452+11C>G GRCh37: Chr13:41379402 GRCh38: Chr13:40805266	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 156799175.	NM_014252.4(SLC25A15):c.363A>G (p.Ala121=) GRCh37: Chr13:41379302 GRCh38: Chr13:40805166	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 25, 2021)	criteria provided, single submitter
Select item 156654676.	NM_014252.4(SLC25A15):c.453-7C>T GRCh37: Chr13:41381423 GRCh38: Chr13:40807287	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 156216877.	NM_014252.4(SLC25A15):c.81G>A (p.Gly27=) GRCh37: Chr13:41373218 GRCh38: Chr13:40799082	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (May 29, 2021)	criteria provided, single submitter
Select item 155988378.	NM_014252.4(SLC25A15):c.831C>T (p.Phe277=) GRCh37: Chr13:41383728 GRCh38: Chr13:40809592	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (May 2, 2021)	criteria provided, single submitter
Select item 155647879.	NM_014252.4(SLC25A15):c.321G>A (p.Leu107=) GRCh37: Chr13:41379260 GRCh38: Chr13:40805124	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (May 4, 2021)	criteria provided, single submitter
Select item 155583180.	NM_014252.4(SLC25A15):c.792C>G (p.Ala264=) GRCh37: Chr13:41383689 GRCh38: Chr13:40809553	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 155471281.	NM_014252.4(SLC25A15):c.678G>C (p.Ala226=) GRCh37: Chr13:41382629 GRCh38: Chr13:40808493	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Nov 4, 2021)	criteria provided, single submitter
Select item 154616482.	NM_014252.4(SLC25A15):c.805C>T (p.Leu269=) GRCh37: Chr13:41383702 GRCh38: Chr13:40809566	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 30, 2021)	criteria provided, single submitter
Select item 154109483.	NM_014252.4(SLC25A15):c.228T>C (p.Ala76=) GRCh37: Chr13:41373365 GRCh38: Chr13:40799229	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 153808584.	NM_014252.4(SLC25A15):c.55+6_55+9dup GRCh37: Chr13:41367420-41367421 GRCh38: Chr13:40793284-40793285	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 153488885.	NM_014252.4(SLC25A15):c.75G>C (p.Leu25=) GRCh37: Chr13:41373212 GRCh38: Chr13:40799076	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Feb 23, 2021)	criteria provided, single submitter
Select item 153015586.	NM_014252.4(SLC25A15):c.314+24_314+26del GRCh37: Chr13:41373471-41373473 GRCh38: Chr13:40799335-40799337	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 152916787.	NM_014252.4(SLC25A15):c.55+8C>A GRCh37: Chr13:41367425 GRCh38: Chr13:40793289	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 150351088.	NM_014252.4(SLC25A15):c.315-1G>A GRCh37: Chr13:41379253 GRCh38: Chr13:40805117	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 147820089.	NM_014252.4(SLC25A15):c.646G>A (p.Gly216Ser) GRCh37: Chr13:41382597 GRCh38: Chr13:40808461	SLC25A15	G216S	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 147620690.	NM_014252.4(SLC25A15):c.182G>C (p.Arg61Pro) GRCh37: Chr13:41373319 GRCh38: Chr13:40799183	SLC25A15	R61P	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 146676991.	NM_014252.4(SLC25A15):c.338G>T (p.Gly113Val) GRCh37: Chr13:41379277 GRCh38: Chr13:40805141	SLC25A15	G113V	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 146405592.	NM_014252.4(SLC25A15):c.530T>C (p.Leu177Ser) GRCh37: Chr13:41381507 GRCh38: Chr13:40807371	SLC25A15	L177S	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 146251893.	NM_014252.4(SLC25A15):c.536G>T (p.Arg179Leu) GRCh37: Chr13:41381513 GRCh38: Chr13:40807377	SLC25A15	R179L	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 146100294.	NM_014252.4(SLC25A15):c.158A>G (p.Lys53Arg) GRCh37: Chr13:41373295 GRCh38: Chr13:40799159	SLC25A15	K53R	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Nov 23, 2021)	criteria provided, single submitter
Select item 146056995.	NM_014252.4(SLC25A15):c.789G>T (p.Thr263=) GRCh37: Chr13:41383686 GRCh38: Chr13:40809550	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Likely benign (Sep 18, 2021)	criteria provided, single submitter
Select item 145992396.	NC_000013.10:g.(?_41381410)_(41381619_?)del GRCh37: Chr13:41381410-41381619	SLC25A15		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 145299897.	NM_014252.4(SLC25A15):c.570del (p.Tyr191fs) GRCh37: Chr13:41381547 GRCh38: Chr13:40807411	SLC25A15	Y191fs	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 145249498.	NM_014252.4(SLC25A15):c.639_640del (p.Met213fs) GRCh37: Chr13:41382589-41382590 GRCh38: Chr13:40808453-40808454	SLC25A15	M213fs	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 144315399.	NM_014252.4(SLC25A15):c.688G>A (p.Val230Met) GRCh37: Chr13:41382639 GRCh38: Chr13:40808503	SLC25A15	V230M	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 1441193100.	NM_014252.4(SLC25A15):c.76del (p.Thr26fs) GRCh37: Chr13:41373213 GRCh38: Chr13:40799077	SLC25A15	T26fs	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Pathogenic (Nov 6, 2021)	criteria provided, single submitter

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