SLC25A15[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009757, LOC130009758 +780 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	LOC130009739, LOC130009740 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	AKAP11, ALG11 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009911, LOC130009912 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	AKAP11, ALG11 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LRRC63, MED4 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	AKAP11, ARL11 +437 more	Copy number loss	See cases	GPathogenic
Select item 154825	GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3	LOC130009633, LOC130009634 +141 more	Copy number gain	See cases	GUncertain significance
Select item 1291267	NC_000013.11:g.40789301G>A	LOC130009616, SLC25A15	Single nucleotide variant	not provided	GBenign
Select item 312166	NM_014252.3(SLC25A15):c.-320G>C	LOC130009616, SLC25A15	Single nucleotide variant	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 312167	NM_014252.3(SLC25A15):c.-304C>G	LOC130009616, SLC25A15	Single nucleotide variant	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 312168	NM_014252.3(SLC25A15):c.-274T>C	LOC130009616, SLC25A15	Single nucleotide variant	not provided +1 more	GBenign
Select item 312169	NM_014252.3(SLC25A15):c.-273C>G	LOC130009616, SLC25A15	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312170	NM_014252.3(SLC25A15):c.-259G>C	LOC130009616, SLC25A15	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 312171	NM_014252.3(SLC25A15):c.-245C>T	LOC130009616, SLC25A15	Single nucleotide variant	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 312172	NM_014252.3(SLC25A15):c.-167G>A	LOC130009616, SLC25A15	Single nucleotide variant	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 880664	NM_014252.4(SLC25A15):c.-120C>G	LOC130009616, SLC25A15	Single nucleotide variant (5 prime UTR variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 312173	NM_014252.4(SLC25A15):c.-101C>G	LOC130009616, SLC25A15	Single nucleotide variant (5 prime UTR variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
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 387077	NM_014252.4(SLC25A15):c.-69-16T>A	SLC25A15	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 312174	NM_014252.4(SLC25A15):c.-67A>T	SLC25A15	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 312175	NM_014252.4(SLC25A15):c.-41G>A	SLC25A15	Single nucleotide variant (5 prime UTR variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 387766	NM_014252.4(SLC25A15):c.-32C>T	SLC25A15	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 2172603	NM_014252.4(SLC25A15):c.11A>G (p.Asn4Ser)	SLC25A15 (N4S)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	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
Select item 390265	NM_014252.4(SLC25A15):c.18T>C (p.Ala6=)	SLC25A15	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1646098	NM_014252.4(SLC25A15):c.21C>T (p.Ile7=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 489127	NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)	SLC25A15 (Q8*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 935342	NM_014252.4(SLC25A15):c.32T>C (p.Ile11Thr)	SLC25A15 (I11T)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
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 973537	NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val)	SLC25A15 (A15V)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 880665	NM_014252.4(SLC25A15):c.45G>A (p.Ala15=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GConflicting classifications of pathogenicity
Select item 1421431	NM_014252.4(SLC25A15):c.47G>A (p.Gly16Glu)	SLC25A15 (G16E)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
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 1538085	NM_014252.4(SLC25A15):c.55+6_55+9dup	SLC25A15	Duplication (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2230834	NM_014252.4(SLC25A15):c.55+5A>T	SLC25A15	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 509277	NM_014252.4(SLC25A15):c.55+6G>C	SLC25A15	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1624707	NM_014252.4(SLC25A15):c.55+8C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 1529167	NM_014252.4(SLC25A15):c.55+8C>A	SLC25A15	Single nucleotide variant (intron 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 382626	NM_014252.4(SLC25A15):c.55+12T>C	SLC25A15	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely 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 2917114	NM_014252.4(SLC25A15):c.55+17C>T	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 511204	NM_014252.4(SLC25A15):c.55+17C>G	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GLikely benign
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 1326205	NM_014252.4(SLC25A15):c.55+35G>A	SLC25A15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190995	NM_014252.4(SLC25A15):c.55+93G>A	SLC25A15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683871	NM_014252.4(SLC25A15):c.56-249C>T	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1270017	NM_014252.4(SLC25A15):c.56-235_56-234del	SLC25A15	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1180970	NM_014252.4(SLC25A15):c.56-233G>A	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 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 2139424	NM_014252.4(SLC25A15):c.56-15_56-14del	SLC25A15	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GBenign
Select item 1920826	NM_014252.4(SLC25A15):c.56-13G>T	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2115705	NM_014252.4(SLC25A15):c.56-9T>C	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 1151561	NM_014252.4(SLC25A15):c.56-8G>A	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 1907263	NM_014252.4(SLC25A15):c.56-6T>C	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	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 1951233	NM_014252.4(SLC25A15):c.56G>C (p.Gly19Ala)	SLC25A15 (G19A)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 857237	NM_014252.4(SLC25A15):c.59del (p.Gly20fs)	SLC25A15 (G20fs)	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 949296	NM_014252.4(SLC25A15):c.64G>A (p.Ala22Thr)	SLC25A15 (A22T)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 1627161	NM_014252.4(SLC25A15):c.69T>C (p.Cys23=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2110339	NM_014252.4(SLC25A15):c.70G>A (p.Val24Ile)	SLC25A15 (V24I)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 766177	NM_014252.4(SLC25A15):c.72A>T (p.Val24=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 1990042	NM_014252.4(SLC25A15):c.73C>T (p.Leu25=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 1534888	NM_014252.4(SLC25A15):c.75G>C (p.Leu25=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 1441193	NM_014252.4(SLC25A15):c.76del (p.Thr26fs)	SLC25A15 (T26fs)	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 1116211	NM_014252.4(SLC25A15):c.78C>T (p.Thr26=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 2251598	NM_014252.4(SLC25A15):c.81del (p.Gln28fs)	SLC25A15 (Q28fs)	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 5995	NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)	SLC25A15 (G27R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 1562168	NM_014252.4(SLC25A15):c.81G>A (p.Gly27=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
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 423570	NM_014252.4(SLC25A15):c.91G>C (p.Asp31His)	SLC25A15 (D31H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
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 2058972	NM_014252.4(SLC25A15):c.95C>T (p.Thr32Ile)	SLC25A15 (T32I)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 6000	NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg)	SLC25A15 (T32R)	Single nucleotide variant (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 1978187	NM_014252.4(SLC25A15):c.97del (p.Thr32_Met33insTer)	SLC25A15	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 1603939	NM_014252.4(SLC25A15):c.105G>T (p.Val35=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely benign
Select item 5997	NM_014252.4(SLC25A15):c.110T>G (p.Met37Arg)	SLC25A15 (M37R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 950666	NM_014252.4(SLC25A15):c.113_116dup (p.Phe40fs)	SLC25A15 (F40fs)	Duplication (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic

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