29957[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 144592	GRCh38/hg38 1p13.3(chr1:107395369-108383738)x3	LOC112577470, LOC120893149 +12 more	Copy number gain	See cases	GUncertain significance
Select item 1240581	NM_013386.5(SLC25A24):c.*124T>C	SLC25A24	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3067689	NM_013386.5(SLC25A24):c.1433G>T (p.Ter478Leu)	SLC25A24	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2539442	NM_013386.5(SLC25A24):c.1390G>T (p.Val464Phe)	SLC25A24 (V464F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2715730	NM_013386.5(SLC25A24):c.1389G>T (p.Val463=)	SLC25A24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312910	NM_013386.5(SLC25A24):c.1385A>G (p.Tyr462Cys)	SLC25A24 (Y443C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631572	NM_013386.5(SLC25A24):c.1360G>A (p.Val454Met)	SLC25A24 (V435M +1 more)	Single nucleotide variant (missense variant)	SLC25A24-related disorder	GUncertain significance
Select item 2585298	NM_013386.5(SLC25A24):c.1346C>T (p.Pro449Leu)	SLC25A24 (P430L +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome	GUncertain significance
Select item 3319212	NM_013386.5(SLC25A24):c.1343C>T (p.Thr448Ile)	SLC25A24 (T448I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287018	NM_013386.5(SLC25A24):c.1337G>A (p.Gly446Asp)	SLC25A24 (G427D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2978840	NM_013386.5(SLC25A24):c.1316G>T (p.Gly439Val)	SLC25A24 (G420V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2460250	NM_013386.5(SLC25A24):c.1298G>A (p.Arg433Gln)	SLC25A24 (R414Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198227	NM_013386.5(SLC25A24):c.1294C>T (p.Arg432Ter)	SLC25A24 (R413* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 1488142	NM_013386.5(SLC25A24):c.1286G>A (p.Gly429Asp)	SLC25A24 (G410D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 692156	NM_013386.5(SLC25A24):c.1273C>A (p.Leu425Met)	SLC25A24 (L406M +1 more)	Single nucleotide variant (missense variant)	Dementia +1 more	GUncertain significance
Select item 3163640	NM_013386.5(SLC25A24):c.1254G>T (p.Met418Ile)	SLC25A24 (M399I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3346280	NM_013386.5(SLC25A24):c.1250C>T (p.Ala417Val)	SLC25A24 (A398V +1 more)	Single nucleotide variant (missense variant)	SLC25A24-related disorder	GUncertain significance
Select item 1511499	NM_013386.5(SLC25A24):c.1250-1G>A	SLC25A24	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1013521	NM_013386.5(SLC25A24):c.1250-3T>C	SLC25A24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063980	NM_013386.5(SLC25A24):c.1250-10dup	SLC25A24	Duplication (intron variant)	not provided	GBenign
Select item 1287137	NM_013386.5(SLC25A24):c.1250-73G>A	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252212	NM_013386.5(SLC25A24):c.1249+198C>A	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276686	NM_013386.5(SLC25A24):c.1249+80A>G	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2781678	NM_013386.5(SLC25A24):c.1238_1247del (p.Met413fs)	SLC25A24 (M394fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3022169	NM_013386.5(SLC25A24):c.1235G>A (p.Arg412His)	SLC25A24 (R412H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033009	NM_013386.5(SLC25A24):c.1229G>A (p.Arg410Lys)	SLC25A24 (R391K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986026	NM_013386.5(SLC25A24):c.1211A>T (p.Tyr404Phe)	SLC25A24 (Y385F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319211	NM_013386.5(SLC25A24):c.1139C>G (p.Ser380Cys)	SLC25A24 (S380C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351803	NM_013386.5(SLC25A24):c.1134A>C (p.Lys378Asn)	SLC25A24 (K359N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2297038	NM_013386.5(SLC25A24):c.1124A>C (p.Asn375Thr)	SLC25A24 (N356T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 754041	NM_013386.5(SLC25A24):c.1104dup (p.Lys369fs)	SLC25A24 (K369fs +1 more)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 1312231	NM_013386.5(SLC25A24):c.1103T>C (p.Leu368Ser)	SLC25A24 (L349S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289104	NM_013386.5(SLC25A24):c.1099-114C>T	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282219	NM_013386.5(SLC25A24):c.1099-192T>C	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638961	NM_013386.5(SLC25A24):c.1076G>T (p.Gly359Val)	SLC25A24 (G340V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179023	NM_013386.5(SLC25A24):c.1072G>A (p.Ala358Thr)	SLC25A24 (A358T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163639	NM_013386.5(SLC25A24):c.1040A>G (p.Tyr347Cys)	SLC25A24 (Y347C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2993232	NM_013386.5(SLC25A24):c.1024G>C (p.Ala342Pro)	SLC25A24 (A323P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159958	NM_013386.5(SLC25A24):c.1022G>A (p.Gly341Glu)	SLC25A24 (G322E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254910	NM_013386.5(SLC25A24):c.931G>T (p.Val311Phe)	SLC25A24 (V292F +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome	GUncertain significance
Select item 737141	NM_013386.4(SLC25A24):c.931delG	SLC25A24	Deletion	not provided	GLikely benign
Select item 2069514	NM_013386.5(SLC25A24):c.931-9dup	SLC25A24	Duplication (intron variant)	not provided	GLikely benign
Select item 712421	NM_013386.5(SLC25A24):c.925A>G (p.Met309Val)	SLC25A24 (M290V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1473375	NM_013386.5(SLC25A24):c.918A>G (p.Ile306Met)	SLC25A24 (I287M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2964671	NM_013386.5(SLC25A24):c.903_904dup (p.Ala302fs)	SLC25A24 (A283fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2334335	NM_013386.5(SLC25A24):c.889A>G (p.Met297Val)	SLC25A24 (M297V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269574	NM_013386.5(SLC25A24):c.887C>G (p.Ser296Cys)	SLC25A24 (S277C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305985	NM_013386.5(SLC25A24):c.869A>G (p.Glu290Gly)	SLC25A24 (E271G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163652	NM_013386.5(SLC25A24):c.866T>C (p.Phe289Ser)	SLC25A24 (F270S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1310706	NM_013386.5(SLC25A24):c.848dup (p.Gln284fs)	SLC25A24 (Q265fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1675002	NM_013386.5(SLC25A24):c.842AAG[1] (p.Glu282del)	SLC25A24 (E263del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3163651	NM_013386.5(SLC25A24):c.846A>C (p.Glu282Asp)	SLC25A24 (E263D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2981708	NM_013386.5(SLC25A24):c.832T>C (p.Leu278=)	SLC25A24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163650	NM_013386.5(SLC25A24):c.830A>G (p.Lys277Arg)	SLC25A24 (K258R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319213	NM_013386.5(SLC25A24):c.829A>G (p.Lys277Glu)	SLC25A24 (K258E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2717480	NM_013386.5(SLC25A24):c.823-10G>T	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1899787	NM_013386.5(SLC25A24):c.823-18del	SLC25A24	Deletion (intron variant)	not provided	GBenign
Select item 2973347	NM_013386.5(SLC25A24):c.822+1G>A	SLC25A24	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1032578	NM_013386.5(SLC25A24):c.812_822+1del	SLC25A24	Deletion (splice donor variant)	Fontaine progeroid syndrome	GUncertain significance
Select item 1951356	NM_013386.5(SLC25A24):c.813A>G (p.Ala271=)	SLC25A24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045648	NM_013386.5(SLC25A24):c.766A>G (p.Thr256Ala)	SLC25A24 (T237A +1 more)	Single nucleotide variant (missense variant)	SLC25A24-related disorder	GUncertain significance
Select item 692155	NM_013386.5(SLC25A24):c.758G>C (p.Gly253Ala)	SLC25A24 (G234A +1 more)	Single nucleotide variant (missense variant)	Dementia +1 more	GLikely pathogenic
Select item 1175741	NM_013386.5(SLC25A24):c.742C>T (p.Arg248Cys)	SLC25A24 (R229C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2691636	NM_013386.5(SLC25A24):c.715C>T (p.Arg239Ter)	SLC25A24 (R220* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3163648	NM_013386.5(SLC25A24):c.707G>A (p.Gly236Asp)	SLC25A24 (G217D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163647	NM_013386.5(SLC25A24):c.701T>C (p.Ile234Thr)	SLC25A24 (I234T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163646	NM_013386.5(SLC25A24):c.696G>A (p.Met232Ile)	SLC25A24 (M213I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1287670	NM_013386.5(SLC25A24):c.670-88G>C	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261744	NM_013386.5(SLC25A24):c.670-143T>C	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042781	NM_013386.5(SLC25A24):c.669+6C>G	SLC25A24	Single nucleotide variant (intron variant)	SLC25A24-related disorder	GLikely benign
Select item 1908713	NM_013386.5(SLC25A24):c.657A>G (p.Lys219=)	SLC25A24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 370032	NM_013386.5(SLC25A24):c.650G>A (p.Arg217His)	SLC25A24 (R198H +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome +1 more	GPathogenic
Select item 369980	NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys)	SLC25A24 (R198C +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome +1 more	GPathogenic
Select item 2185156	NM_013386.5(SLC25A24):c.625C>T (p.Arg209Ter)	SLC25A24 (R190* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2408487	NM_013386.5(SLC25A24):c.613G>C (p.Gly205Arg)	SLC25A24 (G186R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1386632	NM_013386.5(SLC25A24):c.613G>A (p.Gly205Ser)	SLC25A24 (G186S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1986293	NM_013386.5(SLC25A24):c.574G>A (p.Gly192Arg)	SLC25A24 (G192R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273759	NM_013386.5(SLC25A24):c.511-74C>G	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2887975	NM_013386.5(SLC25A24):c.490C>T (p.Arg164Cys)	SLC25A24 (R164C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2663000	NM_013386.5(SLC25A24):c.484A>G (p.Ile162Val)	SLC25A24 (I143V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253707	NM_013386.5(SLC25A24):c.480G>A (p.Glu160=)	SLC25A24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2899726	NM_013386.5(SLC25A24):c.462T>G (p.Asn154Lys)	SLC25A24 (N135K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163644	NM_013386.5(SLC25A24):c.436G>A (p.Glu146Lys)	SLC25A24 (E146K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609644	NM_013386.5(SLC25A24):c.429C>A (p.Asp143Glu)	SLC25A24 (D143E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683655	NM_013386.5(SLC25A24):c.424G>A (p.Val142Met)	SLC25A24 (V123M +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome	GUncertain significance
Select item 1967008	NM_013386.5(SLC25A24):c.399-18A>G	SLC25A24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246080	NM_013386.5(SLC25A24):c.398+45T>C	SLC25A24	Single nucleotide variant (intron variant)	Fontaine progeroid syndrome +1 more	GBenign
Select item 1987233	NM_013386.5(SLC25A24):c.398+11C>T	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2894905	NM_013386.5(SLC25A24):c.373C>A (p.Gln125Lys)	SLC25A24 (Q125K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1963562	NM_013386.5(SLC25A24):c.357T>C (p.Gly119=)	SLC25A24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990153	NM_013386.5(SLC25A24):c.311-19C>T	SLC25A24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944038	NM_013386.5(SLC25A24):c.311-20C>T	SLC25A24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244598	NM_013386.5(SLC25A24):c.311-43C>T	SLC25A24	Single nucleotide variant (intron variant)	not provided	GBenign

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