10950[Gene ID] - ClinVar

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Items: 96

	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 59220	GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3	ASMER1, BTG3 +118 more	Copy number gain	See cases	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 153628	GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1	ASMER1, BTG3 +107 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 59225	GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3	ASMER1, BTG3 +129 more	Copy number gain	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 59006	GRCh38/hg38 21q11.2-21.1(chr21:14019847-18125051)x1	ASMER1, BTG3 +101 more	Copy number loss	See cases	GPathogenic
Select item 149825	GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1	ASMER1, BTG3 +121 more	Copy number loss	See cases	GPathogenic
Select item 59007	GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1	LOC130066455, LOC130066456 +102 more	Copy number loss	See cases	GPathogenic
Select item 147792	GRCh38/hg38 21q21.1-21.2(chr21:15341716-22826315)x1	BTG3, BTG3-AS1 +76 more	Copy number loss	See cases	GPathogenic
Select item 1696614	Single allele	C21orf91, BTG3 +46 more	Deletion	not provided	GUncertain significance
Select item 146349	GRCh38/hg38 21q21.1-21.2(chr21:16872635-24024990)x3	BTG3, BTG3-AS1 +64 more	Copy number gain	See cases	GUncertain significance
Select item 3135480	NM_006806.5(BTG3):c.718C>T (p.Arg240Trp)	BTG3, CXADR (R284W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283094	NM_006806.5(BTG3):c.698C>T (p.Pro233Leu)	BTG3, CXADR (P277L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135479	NM_006806.5(BTG3):c.598G>A (p.Gly200Ser)	BTG3, CXADR (G244S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262043	NM_006806.5(BTG3):c.559C>G (p.Pro187Ala)	BTG3, CXADR (P231A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605740	NM_006806.5(BTG3):c.535T>A (p.Phe179Ile)	BTG3, CXADR (F179I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262042	NM_006806.5(BTG3):c.508C>G (p.Pro170Ala)	BTG3, CXADR (P214A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482257	NM_006806.5(BTG3):c.491T>C (p.Val164Ala)	BTG3, CXADR (V164A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271209	NM_006806.5(BTG3):c.488C>T (p.Ser163Leu)	BTG3, CXADR (S207L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528034	NM_006806.5(BTG3):c.347G>C (p.Ser116Thr)	BTG3, CXADR (S116T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612305	NM_006806.5(BTG3):c.311+706T>C	BTG3, CXADR (F145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135478	NM_006806.5(BTG3):c.311+696G>A	BTG3, CXADR (A142T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135477	NM_006806.5(BTG3):c.311+694C>T	BTG3, CXADR (P141L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2681627	NM_006806.5(BTG3):c.311+688T>C	BTG3, CXADR (L139P)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2283034	NM_006806.5(BTG3):c.311+646C>T	BTG3, CXADR (P125L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242043	NM_006806.5(BTG3):c.311+603T>C	BTG3, CXADR (C111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528033	NM_006806.5(BTG3):c.295T>C (p.Cys99Arg)	BTG3, CXADR (C99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591105	NM_006806.5(BTG3):c.28T>G (p.Phe10Val)	BTG3, CXADR (F10V)	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 2685655	GRCh37/hg19 21q11.2-21.1(chr21:15006458-19950207)x1	BTG3, C21orf91 +13 more	Copy number loss	not provided	GUncertain significance
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 1808396	GRCh37/hg19 21q11.2-21.1(chr21:15006458-21778529)x1	MIRLET7C, NRIP1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1808191	GRCh37/hg19 21q21.1(chr21:18599500-19253537)x3	BTG3, C21orf91 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808090	GRCh37/hg19 21q21.1(chr21:18965618-19018155)x1	BTG3, CXADR	Copy number loss	not provided	GUncertain significance
Select item 1708465	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29046428)x3	ADAMTS1, MIR125B2 +23 more	Copy number gain	See cases	GPathogenic
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 1526708	GRCh37/hg19 21q21.1(chr21:18710760-19411176)	BTG3, C21orf91 +2 more	Copy number loss	not specified	GUncertain significance
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 1526703	GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)	MRPL39, NCAM2 +23 more	Copy number gain	not specified	GPathogenic
Select item 1526702	GRCh37/hg19 21q11.2-21.3(chr21:15006457-27430623)	APP, ATP5PF +20 more	Copy number gain	not specified	GPathogenic
Select item 1526701	GRCh37/hg19 21q11.2-21.2(chr21:15006457-26760450)	BTG3, C21orf91 +14 more	Copy number gain	not specified	GPathogenic
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 1340198	GRCh37/hg19 21q21.1(chr21:18650817-19125717)x3	BTG3, CXADR	Copy number gain	not provided	GLikely benign
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 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816145	GRCh37/hg19 21q21.1(chr21:18769495-19611264)x3	BTG3, CXADR +2 more	Copy number gain	not provided	GUncertain significance
Select item 816144	GRCh37/hg19 21q21.1(chr21:17724268-22219850)x3	BTG3, C21orf91 +6 more	Copy number gain	not provided	GUncertain significance
Select item 816143	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	not provided	GPathogenic
Select item 816142	GRCh37/hg19 21q11.2-21.2(chr21:15006457-24522577)x1	BTG3, C21orf91 +14 more	Copy number loss	not provided	GPathogenic
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 635905	Single allele	ADAMTS1, ADAMTS5 +23 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625662	GRCh37/hg19 21p11.1-q21.2(chr21:10944001-25730963)	HSPA13, SAMSN1 +17 more	Copy number gain	not provided	GPathogenic
Select item 564678	GRCh37/hg19 21q11.2-21.2(chr21:15006457-25292671)x1	BTG3, C21orf91 +14 more	Copy number loss	not provided	GPathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443575	GRCh37/hg19 21q21.1(chr21:17049083-22765034)x3	BTG3, C21orf91 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442418	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29225300)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	See cases	GPathogenic
Select item 441969	GRCh37/hg19 21q11.2-21.1(chr21:15006861-23651121)x3	BTG3, C21orf91 +14 more	Copy number gain	See cases	GUncertain significance
Select item 395680	GRCh37/hg19 21q11.2-21.1(chr21:15442582-20723130)	CXADR, HSPA13 +12 more	Copy number gain	See cases	GPathogenic
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 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 127268	NC_000021.7:g.13636378_28138533dup	SAMSN1, ADAMTS1 +23 more	Duplication	Alzheimer disease +1 more	GPathogenic

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Items: 96