LOC126653330[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +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	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +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	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +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	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC125418053, LOC125418054 +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)	HSPA13, JAM2 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +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 2083582	NM_000484.4(APP):c.1612T>C (p.Tyr538His)	APP, LOC126653330 (Y428H +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 1292894	NM_000484.4(APP):c.1588-83dup	APP, LOC126653330	Duplication (intron variant)	not provided	GBenign
Select item 1238118	NM_000484.4(APP):c.1588-97C>T	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178502	NM_000484.4(APP):c.1588-167del	APP, LOC126653330	Deletion (intron variant)	not provided	GBenign
Select item 1290089	NM_000484.4(APP):c.1588-184del	APP, LOC126653330	Deletion (intron variant)	not provided	GBenign
Select item 1267631	NM_000484.4(APP):c.1588-245del	APP, LOC126653330	Deletion (intron variant)	not provided	GBenign
Select item 1178906	NM_000484.4(APP):c.1588-269del	APP, LOC126653330	Deletion (intron variant)	not provided	GBenign
Select item 1255359	NM_000484.4(APP):c.1588-275C>T	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229347	NM_000484.4(APP):c.1587+79C>G	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706724	NM_000484.4(APP):c.1587+26T>G	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270785	NM_000484.4(APP):c.1587+23T>C	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1963228	NM_000484.4(APP):c.1587+14A>G	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 784763	NM_000484.4(APP):c.1587+7G>A	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 2914083	NM_000484.4(APP):c.1587+6C>T	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	GUncertain significance
Select item 1372949	NM_000484.4(APP):c.1580G>A (p.Arg527Gln)	APP, LOC126653330 (R417Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2162880	NM_000484.4(APP):c.1570G>A (p.Ala524Thr)	APP, LOC126653330 (A393T +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2891584	NM_000484.4(APP):c.1569C>T (p.Ala523=)	APP, LOC126653330	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 2691466	NM_000484.4(APP):c.1549A>C (p.Met517Leu)	APP, LOC126653330 (M386L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348586	NM_000484.4(APP):c.1546C>T (p.Arg516Cys)	APP, LOC126653330 (R385C +6 more)	Single nucleotide variant (missense variant)	APP-related disorder	GUncertain significance
Select item 894932	NM_000484.4(APP):c.1530G>C (p.Lys510Asn)	APP, LOC126653330 (K379N +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 521455	NM_000484.4(APP):c.1505A>C (p.Gln502Pro)	APP, LOC126653330 (Q502P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2153729	NM_000484.4(APP):c.1498G>A (p.Ala500Thr)	APP, LOC126653330 (A390T +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease +1 more	GUncertain significance
Select item 1594048	NM_000484.4(APP):c.1491T>C (p.Tyr497=)	APP, LOC126653330	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 3234597	NM_000484.4(APP):c.1479G>C (p.Met493Ile)	APP, LOC126653330 (M362I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2277113	NM_000484.4(APP):c.1479G>A (p.Met493Ile)	APP, LOC126653330 (M383I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201605	NM_000484.4(APP):c.1475A>G (p.Asn492Ser)	APP, LOC126653330 (N436S +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 1589890	NM_000484.4(APP):c.1467C>T (p.His489=)	APP, LOC126653330	Single nucleotide variant (synonymous variant)	Alzheimer disease	GLikely benign
Select item 1412556	NM_000484.4(APP):c.1463G>A (p.Arg488His)	APP, LOC126653330 (R464H +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 1525891	NM_000484.4(APP):c.1462C>T (p.Arg488Cys)	APP, LOC126653330 (R432C +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 2136593	NM_000484.4(APP):c.1459-15A>T	APP, LOC126653330	Single nucleotide variant (intron variant)	Alzheimer disease	GLikely benign
Select item 1250029	NM_000484.4(APP):c.1459-106A>G	APP, LOC126653330	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 69