GART[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC126653326, LOC126653327 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066833, LOC130066834 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	CBR1-AS1, CBR3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066700, LOC130066701 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066665, LOC130066666 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	ADAMTS1, ADAMTS5 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653316, LOC126653317 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066436, LOC130066437 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	KRTAP13-3, KRTAP13-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, MIR6814 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066541, LOC130066542 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066593, LOC130066594 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066830, LOC130066831 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 151383	GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1	ATP5PO, CRYZL1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 59003	GRCh38/hg38 21q22.11(chr21:33437186-33767838)x3	CRYZL1, DNAJC28 +16 more	Copy number gain	See cases	GUncertain significance
Select item 59012	GRCh38/hg38 21q22.11(chr21:33465408-33806416)x1	CRYZL1, DNAJC28 +15 more	Copy number loss	See cases	GPathogenic
Select item 2510280	NM_000819.5(GART):c.2957C>T (p.Ala986Val)	GART (A986V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312047	NM_000819.5(GART):c.2731A>T (p.Met911Leu)	GART (M911L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507865	NM_000819.5(GART):c.2536G>A (p.Ala846Thr)	GART (A846T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621295	NM_000819.5(GART):c.2513A>G (p.Asp838Gly)	GART (D838G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265332	NM_000819.5(GART):c.2494A>G (p.Asn832Asp)	GART (N832D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271125	NM_000819.5(GART):c.2476G>C (p.Asp826His)	GART (D826H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322554	NM_000819.5(GART):c.2450C>T (p.Thr817Ile)	GART (T817I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570254	NM_000819.5(GART):c.2417A>G (p.Lys806Arg)	GART (K806R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308087	NM_000819.5(GART):c.2393C>T (p.Thr798Ile)	GART (T798I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588930	NM_000819.5(GART):c.2368T>C (p.Ser790Pro)	GART (S790P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358944	NM_000819.5(GART):c.2345T>C (p.Ile782Thr)	GART (I782T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588937	NM_000819.5(GART):c.2323C>T (p.Arg775Cys)	GART (R775C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326417	NM_000819.5(GART):c.2012G>A (p.Arg671His)	GART (R671H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459385	NM_000819.5(GART):c.1963C>T (p.Leu655Phe)	GART (L655F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291241	NM_000819.5(GART):c.1915T>G (p.Ser639Ala)	GART (S639A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 916559	NM_000819.5(GART):c.1907T>G (p.Leu636Arg)	GART (L636R)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 2487885	NM_000819.5(GART):c.1829T>A (p.Val610Asp)	GART (V610D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607370	NM_000819.5(GART):c.1739C>A (p.Pro580His)	GART (P580H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487530	NM_000819.5(GART):c.1729A>G (p.Met577Val)	GART (M577V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348922	NM_000819.5(GART):c.1664T>C (p.Ile555Thr)	GART (I555T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255686	NM_000819.5(GART):c.1649C>T (p.Ala550Val)	GART (A550V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270800	NM_000819.5(GART):c.1520A>G (p.Asn507Ser)	GART (N507S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511254	NM_000819.5(GART):c.1406A>T (p.Asp469Val)	GART (D469V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245019	NM_000819.5(GART):c.1394G>A (p.Gly465Asp)	GART (G465D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491941	NM_000819.5(GART):c.1346T>C (p.Met449Thr)	GART (M449T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2225867	NM_000819.5(GART):c.1346T>G (p.Met449Arg)	GART (M449R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361912	NM_000819.5(GART):c.1331T>C (p.Ile444Thr)	GART (I444T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595741	NM_000819.5(GART):c.1315G>A (p.Glu439Lys)	GART (E439K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220547	NM_000819.5(GART):c.1250A>T (p.Tyr417Phe)	GART (Y417F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395046	NM_000819.5(GART):c.1180G>A (p.Glu394Lys)	GART (E394K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366646	NM_000819.5(GART):c.1180G>C (p.Glu394Gln)	GART (E394Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466004	NM_000819.5(GART):c.1178G>A (p.Arg393Gln)	GART (R393Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2258913	NM_000819.5(GART):c.859C>G (p.Leu287Val)	GART (L287V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291989	NM_000819.5(GART):c.692G>A (p.Gly231Glu)	GART (G231E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527944	NM_000819.5(GART):c.596C>T (p.Ser199Leu)	GART, LOC126653349 (S199L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318514	NM_000819.5(GART):c.469G>A (p.Gly157Arg)	GART (G157R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377916	NM_000819.5(GART):c.373A>C (p.Lys125Gln)	GART (K125Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672312	NC_000021.9:g.33542069_33544417del	GART, LOC130066566 +2 more	Deletion (genic upstream transcript variant)	Intellectual disability	GLikely pathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062422	GRCh37/hg19 21q22.11(chr21:34809971-34966753)x1	CRYZL1, DNAJC28 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 1807761	GRCh37/hg19 21q22.11(chr21:34909697-34931454)x1	GART, SON	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KCNJ6, ATP5PO +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	CRYZL1, CYYR1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	HUNK, IFNGR2 +48 more	Duplication	DYRK1A-related intellectual disability syndrome +1 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1340524	GRCh37/hg19 21q22.11(chr21:34909333-34931454)x1	GART, SON	Copy number loss	not provided	GPathogenic
Select item 1339970	GRCh37/hg19 21q22.11(chr21:32676376-35131913)x3	C21orf62, CFAP298 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 1072704	NC_000021.8:g.(?_34540717)_(35013574_?)del	CRYZL1, IL10RB +8 more	Deletion	not provided	GPathogenic
Select item 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	IFNGR2, IL10RB +33 more	Duplication	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980231	GRCh37/hg19 21q22.11(chr21:34379096-35572731)x1	ATP5PO, CRYZL1 +14 more	Copy number loss	not provided	GPathogenic
Select item 872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	CFAP298, ATP5PO +28 more	Copy number loss	21q22.11q22.12 microdeletion syndrome	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 625736	GRCh37/hg19 21q22.11(chr21:32589903-35359935)	ATP5PO, C21orf62 +25 more	Copy number loss	not provided	GPathogenic
Select item 585231	GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1	ATP5PO, CRYZL1 +16 more	Copy number loss	not provided	Gnot provided
Select item 564677	GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	ATP5PO, B3GALT5 +56 more	Copy number gain	not provided	GPathogenic
Select item 564662	GRCh37/hg19 21q22.11(chr21:34117564-34917877)x3	C21orf62, DNAJC28 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic

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