LOC126653331[gene] - ClinVar

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Search results

Items: 46

	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 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC126653329, LOC130066449 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	C21orf91, LOC125387325 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	N6AMT1, NCAM2 +300 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	ADAMTS1, ADAMTS5 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	CCT8, CLDN17 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 150018	GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1	ADAMTS1, ADAMTS5 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 18104	NC_000021.9:g.(25431701_?)_(?_26466216)dup	JAM2, APP +41 more	Duplication	Alzheimer disease, early-onset, with cerebral amyloid angiopathy	GPathogenic
Select item 148411	GRCh38/hg38 21q21.3(chr21:26089149-26145977)x1	APP, LOC126653331	Copy number loss	See cases	GUncertain significance
Select item 1264878	NM_000484.4(APP):c.58-27773GTTT[8]	APP, LOC126653331	Microsatellite (intron variant)	not provided	GBenign
Select item 1234970	NM_000484.4(APP):c.58-27773GTTT[9]	APP, LOC126653331	Microsatellite (intron variant)	not provided	GBenign
Select item 1177937	NM_000484.4(APP):c.58-27857A>G	APP, LOC126653331	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272547	NM_000484.4(APP):c.58-27859T>C	APP, LOC126653331	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183631	NM_000484.4(APP):c.58-27864T>C	LOC126653331, APP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652574	NM_000484.4(APP):c.58-28004_58-28001del	APP, LOC126653331	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 1260572	NM_000484.4(APP):c.58-28119G>C	APP, LOC126653331	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

ClinVar

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Items: 46