ClinVar for Gene (Select 386679) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	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 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	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 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 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 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
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 2591399	NM_198693.4(KRTAP10-2):c.382C>G (p.Pro128Ala)	KRTAP10-2, TSPEAR (P128A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2394978	NM_198693.4(KRTAP10-2):c.266G>A (p.Cys89Tyr)	TSPEAR, KRTAP10-2 (C89Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357825	NM_198693.4(KRTAP10-2):c.154T>C (p.Cys52Arg)	TSPEAR, KRTAP10-2 (C52R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356581	NM_198693.4(KRTAP10-2):c.35C>T (p.Ala12Val)	KRTAP10-2, TSPEAR (A12V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2341154	NM_198693.4(KRTAP10-2):c.196G>A (p.Ala66Thr)	KRTAP10-2, TSPEAR (A66T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332470	NM_198693.4(KRTAP10-2):c.712G>A (p.Val238Met)	TSPEAR, KRTAP10-2 (V238M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317675	NM_198693.4(KRTAP10-2):c.179C>A (p.Ala60Glu)	TSPEAR, KRTAP10-2 (A60E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266521	NM_198693.4(KRTAP10-2):c.640A>G (p.Ser214Gly)	KRTAP10-2, TSPEAR (S214G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224018	NM_198693.4(KRTAP10-2):c.224G>A (p.Cys75Tyr)	TSPEAR, KRTAP10-2 (C75Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209168	NM_198693.4(KRTAP10-2):c.730T>G (p.Ser244Ala)	TSPEAR, KRTAP10-2 (S244A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204995	NM_198693.4(KRTAP10-2):c.664T>A (p.Ser222Thr)	KRTAP10-2, TSPEAR (S222T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1809303	GRCh37/hg19 21q22.3(chr21:45843864-46176026)x3	KRTAP10-1, KRTAP10-10 +17 more	Copy number gain	not provided	GUncertain significance
Select item 1809073	GRCh37/hg19 21q22.3(chr21:45727195-46161988)x4	CFAP410, KRTAP10-1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1710511	GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1	SUMO3, TRPM2 +32 more	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 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1695030	NM_198693.4(KRTAP10-2):c.693G>C (p.Val231=)	TSPEAR, KRTAP10-2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1526725	GRCh37/hg19 21q22.3(chr21:45773272-48097372)	ADARB1, C21orf58 +42 more	Copy number loss	not specified	GPathogenic
Select item 1526724	GRCh37/hg19 21q22.3(chr21:45265857-47057233)	ADARB1, AGPAT3 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
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 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	AGPAT3, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP10-2, SIK1 +74 more	Duplication	Developmental and epileptic encephalopathy, 30 +2 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 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
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 833483	NC_000021.8:g.(?_45725202)_(46234019_?)dup	CFAP410, KRTAP10-1 +21 more	Duplication	not provided	GUncertain significance
Select item 833361	NC_000021.8:g.(?_45725202)_(46131429_?)dup	KRTAP10-6, KRTAP10-7 +19 more	Duplication	not provided	GUncertain significance
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	AGPAT3, AIRE +47 more	Duplication	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816180	GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1	ADARB1, C21orf58 +41 more	Copy number loss	not provided	GUncertain significance
Select item 816179	GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1	ADARB1, AIRE +50 more	Copy number loss	not provided	GLikely pathogenic
Select item 816178	GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1	ADARB1, AGPAT3 +54 more	Copy number loss	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 688323	GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1	AGPAT3, AIRE +47 more	Copy number loss	not provided	GPathogenic
Select item 686963	GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1	ADARB1, AGPAT3 +51 more	Copy number loss	not provided	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 684975	GRCh37/hg19 21q22.3(chr21:45966645-46077563)x1	KRTAP10-10, KRTAP10-11 +10 more	Copy number loss	not provided	GUncertain significance
Select item 635900	Single allele	ADARB1, AGPAT3 +43 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 545245	Single allele	AATBC, ADARB1 +245 more	Duplication	Autism	GLikely pathogenic
Select item 528316	NC_000021.8:g.(?_45629566)_(46330717_?)dup	KRTAP10-5, KRTAP10-6 +26 more	Duplication	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443781	GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3	AGPAT3, AIRE +37 more	Copy number gain	See cases	GUncertain significance
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443167	GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	DSCAM, FAM3B +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	SPATC1L, SUMO3 +217 more	Copy number gain	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 221356	chr21:45970718..47545826 complex variant	ADARB1, COL18A1 +29 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	AATBC, ABCG1 +340 more	Copy number loss	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 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	LOC130066817, LOC130066818 +276 more	Copy number loss	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 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	LOC130066848, LOC130066849 +482 more	Copy number loss	See cases	GPathogenic
Select item 154064	GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1	ADARB1, BNAT1 +69 more	Copy number loss	See cases	GUncertain significance
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 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	LOC108254685, LOC108281139 +429 more	Copy number loss	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 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AGPAT3, AIRE +516 more	Copy number loss	See cases	GPathogenic
Select item 148857	GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1	KRTAP10-1, KRTAP10-10 +20 more	Copy number loss	See cases	GUncertain significance
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	LOC130066823, LOC130066824 +376 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 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LOC130066733, LOC130066734 +643 more	Copy number loss	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	LOC130066879, LOC130066880 +568 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 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	AATBC, ABCG1 +586 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

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