ClinVar for Gene (Select 1525) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270395	NM_001338.5(CXADR):c.295A>G (p.Lys99Glu)	CXADR (K99E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270394	NM_001338.5(CXADR):c.220T>C (p.Tyr74His)	CXADR (Y74H)	Single nucleotide variant (missense variant +1 more)	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 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 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
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 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 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 3079164	NM_001338.5(CXADR):c.983G>A (p.Arg328His)	CXADR (A189T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079163	NM_001338.5(CXADR):c.964C>T (p.Pro322Ser)	CXADR (P322S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3079162	NM_001338.5(CXADR):c.885C>T (p.Ile295=)	CXADR (S156L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079161	NM_001338.5(CXADR):c.870T>A (p.Thr290=)	CXADR (C83S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079160	NM_001338.5(CXADR):c.763C>T (p.Leu255Phe)	CXADR (L255F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079159	NM_001338.5(CXADR):c.748C>G (p.Leu250Val)	CXADR (L250V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079158	NM_001338.5(CXADR):c.677G>C (p.Arg226Pro)	CXADR (R226P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079157	NM_001338.5(CXADR):c.357G>T (p.Gln119His)	CXADR (Q119H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079156	NM_001338.5(CXADR):c.155C>T (p.Pro52Leu)	CXADR (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079155	NM_001338.5(CXADR):c.142G>A (p.Glu48Lys)	CXADR (E48K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079154	NM_001338.5(CXADR):c.1081G>A (p.Asp361Asn)	CXADR (D361N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3079153	NM_001338.5(CXADR):c.1002T>G (p.Thr334=)	CXADR (L195R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
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 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 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 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 2604904	NM_001338.5(CXADR):c.1061T>C (p.Met354Thr)	CXADR (M354T)	Single nucleotide variant (3 prime UTR variant +2 more)	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 2546062	NM_001338.5(CXADR):c.230A>G (p.Asp77Gly)	CXADR (D77G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536460	NM_001338.5(CXADR):c.869C>T (p.Thr290Ile)	CXADR (T290I)	Single nucleotide variant (synonymous variant +1 more)	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 2528033	NM_006806.5(BTG3):c.295T>C (p.Cys99Arg)	BTG3, CXADR (C99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494018	NM_001338.5(CXADR):c.137G>A (p.Ser46Asn)	CXADR (S46N)	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 2479466	NM_001338.5(CXADR):c.790C>T (p.Arg264Cys)	CXADR (R264C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387686	NM_001338.5(CXADR):c.25C>T (p.Leu9Phe)	CXADR, LOC130066464 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363991	NM_001338.5(CXADR):c.886G>A (p.Gly296Ser)	CXADR (G296S +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2339035	NM_001338.5(CXADR):c.323C>T (p.Thr108Met)	CXADR (T108M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331783	NM_001338.5(CXADR):c.1088C>T (p.Ser363Phe)	CXADR (S363F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2331782	NM_001338.5(CXADR):c.1083T>G (p.Asp361Glu)	CXADR (D361E)	Single nucleotide variant (3 prime UTR variant +2 more)	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 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 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 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 2241035	NM_001338.5(CXADR):c.349A>T (p.Thr117Ser)	CXADR (T117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219762	NM_001338.5(CXADR):c.782G>A (p.Arg261His)	CXADR (R261H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2208976	NM_001338.5(CXADR):c.495A>C (p.Lys165Asn)	CXADR (K165N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1696614	Single allele	C21orf91, BTG3 +46 more	Deletion	not provided	GUncertain significance
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 979746	GRCh37/hg19 21q21.1(chr21:18132804-18945757)x3	CXADR	Copy number gain	not provided	GLikely benign
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 730361	NM_001338.5(CXADR):c.579T>A (p.Thr193=)	CXADR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	HSPA13, JAM2 +209 more	Copy number loss	Monosomy 21	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 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	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 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 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 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 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 149825	GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1	ASMER1, BTG3 +121 more	Copy number loss	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

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