3040[HGNC] - ClinVar

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Items: 88

	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 154734	GRCh38/hg38 21q22.12(chr21:34507402-34693381)x1	CLIC6, KCNE1 +13 more	Copy number loss	See cases	GUncertain significance
Select item 2490499	NM_004414.7(RCAN1):c.745A>G (p.Ile249Val)	RCAN1 (I249V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268031	NM_004414.7(RCAN1):c.719A>G (p.Gln240Arg)	RCAN1 (Q105R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539484	NM_004414.7(RCAN1):c.618C>A (p.Asp206Glu)	RCAN1 (D151E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152677	NM_004414.7(RCAN1):c.593A>C (p.Lys198Thr)	RCAN1 (K117T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313399	NM_004414.7(RCAN1):c.568A>G (p.Ile190Val)	RCAN1 (I109V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313398	NM_004414.7(RCAN1):c.496G>A (p.Ala166Thr)	RCAN1 (A191T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279489	NM_004414.7(RCAN1):c.458C>T (p.Pro153Leu)	RCAN1 (P178L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313397	NM_004414.7(RCAN1):c.448C>T (p.His150Tyr)	RCAN1 (H69Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374680	NM_004414.7(RCAN1):c.368G>A (p.Arg123Lys)	RCAN1 (R68K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152676	NM_004414.7(RCAN1):c.353C>T (p.Ser118Phe)	RCAN1 (S143F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049345	NM_004414.7(RCAN1):c.101C>A (p.Ala34Glu)	RCAN1 (A34E)	Single nucleotide variant (missense variant)	RCAN1-related disorder	GLikely benign
Select item 2238772	NM_004414.7(RCAN1):c.71C>T (p.Ala24Val)	LOC130066584, RCAN1 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
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 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +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	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 1809035	GRCh37/hg19 21q22.12(chr21:35938726-36255103)x3	CLIC6, RCAN1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526716	GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)	CLIC6, KCNE1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	EVA1C, CBR1 +48 more	Duplication	DYRK1A-related intellectual disability syndrome +3 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	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	ATP5PO, CFAP298 +33 more	Duplication	Early-onset Parkinson disease 20 +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 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 812914	NC_000021.8:g.35304355_36865958del	KCNE1, KCNE2 +6 more	Deletion	Thrombocytopenia	GLikely pathogenic
Select item 812913	NC_000021.8:g.35304341_36865875del	CLIC6, KCNE1 +6 more	Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 689273	GRCh37/hg19 21q22.11-22.12(chr21:35725728-35906042)x3	KCNE1, KCNE2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 689055	GRCh37/hg19 21q22.11-22.12(chr21:35716793-35900319)x3	KCNE1, KCNE2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686959	GRCh37/hg19 21q22.11-22.12(chr21:35725728-35906868)x3	KCNE1, KCNE2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 685844	GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)x1	CLIC6, KCNE1 +6 more	Copy number loss	not provided	GPathogenic
Select item 685269	GRCh37/hg19 21q22.11-22.12(chr21:35716793-35906868)x3	KCNE1, KCNE2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 584413	NC_000021.8:g.(?_35742772)_(36421202_?)del	CLIC6, KCNE1 +4 more	Deletion	Long QT syndrome 6	GUncertain significance
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 564670	GRCh37/hg19 21q22.11-22.12(chr21:35313088-36864916)x3	RCAN1, CLIC6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564651	GRCh37/hg19 21q22.12(chr21:35938310-36260994)x3	RCAN1, RUNX1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564647	GRCh37/hg19 21q22.11-22.12(chr21:35717016-35904974)x3	SMIM11, RCAN1 +2 more	Copy number gain	not provided	GLikely benign
Select item 493571	GRCh37/hg19 21q22.11-22.12(chr21:35726628-35905168)x3	KCNE1, KCNE2 +2 more	Copy number gain	not provided	GLikely benign
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443399	GRCh37/hg19 21q22.11-22.12(chr21:35726225-35906612)x3	KCNE1, KCNE2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441067	GRCh37/hg19 21q22.11-22.12(chr21:35734654-35908414)x3	KCNE1, KCNE2 +2 more	Copy number gain	not provided	Gnot provided
Select item 441051	GRCh37/hg19 21q22.11-22.12(chr21:35734654-35905168)x3	KCNE1, KCNE2 +2 more	Copy number gain	not provided	Gnot provided
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 268070	GRCh37/hg19 21q22.11-22.12(chr21:35733290-35904053)x3	KCNE1, KCNE2 +2 more	Copy number gain	See cases	GLikely benign
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 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic
Select item 147666	GRCh37/hg19 21q22.11-22.12(chr21:34997018-36118212)x3	ATP5PO, CLIC6 +8 more	Copy number gain	See cases	GPathogenic
Select item 59248	GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3	CLIC6, KCNE1 +6 more	Copy number gain	See cases	GPathogenic
Select item 59013	GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	ABCG1, B3GALT5 +56 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 88