ClinVar for Gene (Select 54464) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333568	NM_001282857.2(XRN1):c.14A>G (p.Lys5Arg)	LOC129937702, XRN1 (K5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333567	NM_001282857.2(XRN1):c.7G>A (p.Val3Ile)	LOC129937702, XRN1 (V3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333566	NM_001282857.2(XRN1):c.370A>G (p.Thr124Ala)	XRN1 (T124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333565	NM_001282857.2(XRN1):c.3159T>G (p.Asp1053Glu)	XRN1 (D1053E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333564	NM_001282857.2(XRN1):c.3549G>C (p.Gln1183His)	XRN1 (Q1183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333563	NM_001282857.2(XRN1):c.412G>A (p.Glu138Lys)	XRN1 (E138K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333562	NM_001282857.2(XRN1):c.4180G>A (p.Glu1394Lys)	XRN1 (E1393K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333560	NM_001282857.2(XRN1):c.2435G>A (p.Gly812Asp)	XRN1 (G812D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333559	NM_001282857.2(XRN1):c.887A>C (p.His296Pro)	XRN1 (H296P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333558	NM_001282857.2(XRN1):c.2011T>A (p.Leu671Met)	XRN1 (L671M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333557	NM_001282857.2(XRN1):c.3411T>G (p.Asp1137Glu)	XRN1 (D1137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333556	NM_001282857.2(XRN1):c.1502A>G (p.His501Arg)	XRN1 (H501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333555	NM_001282857.2(XRN1):c.235A>G (p.Lys79Glu)	XRN1 (K79E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333554	NM_001282857.2(XRN1):c.3058A>G (p.Asn1020Asp)	XRN1 (N1020D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252049	NM_001282857.2(XRN1):c.624C>A (p.Asp208Glu)	XRN1 (D208E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3247002	NC_000003.11:g.(?_141102833)_(142184102_?)del	ATP1B3, ATR +7 more	Deletion	not provided	GUncertain significance
Select item 3191325	NM_001282857.2(XRN1):c.4964A>C (p.Gln1655Pro)	XRN1 (Q1655P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191324	NM_001282857.2(XRN1):c.4948C>T (p.Pro1650Ser)	XRN1 (P1650S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191323	NM_001282857.2(XRN1):c.4903C>T (p.Arg1635Trp)	XRN1 (R1635W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191322	NM_001282857.2(XRN1):c.4735G>A (p.Ala1579Thr)	XRN1 (A1579T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191321	NM_001282857.2(XRN1):c.4723A>G (p.Thr1575Ala)	XRN1 (T1575A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191320	NM_001282857.2(XRN1):c.4633C>G (p.Pro1545Ala)	XRN1 (P1545A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191319	NM_001282857.2(XRN1):c.4073G>A (p.Arg1358Gln)	XRN1 (R1358Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191318	NM_001282857.2(XRN1):c.3919C>G (p.Gln1307Glu)	XRN1 (Q1307E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191317	NM_001282857.2(XRN1):c.3001A>G (p.Ile1001Val)	XRN1 (I1001V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191316	NM_001282857.2(XRN1):c.2941T>C (p.Ser981Pro)	XRN1 (S981P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191315	NM_001282857.2(XRN1):c.2308T>A (p.Trp770Arg)	XRN1 (W770R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191313	NM_001282857.2(XRN1):c.2272A>G (p.Lys758Glu)	XRN1 (K758E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191312	NM_001282857.2(XRN1):c.2269T>C (p.Ser757Pro)	XRN1 (S757P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191311	NM_001282857.2(XRN1):c.2186C>G (p.Ala729Gly)	XRN1 (A729G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191310	NM_001282857.2(XRN1):c.1859C>T (p.Pro620Leu)	XRN1 (P620L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191308	NM_001282857.2(XRN1):c.1476A>G (p.Ile492Met)	XRN1 (I492M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654203	NM_001282857.2(XRN1):c.228A>G (p.Lys76=)	XRN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607338	NM_001282857.2(XRN1):c.3927G>T (p.Met1309Ile)	XRN1 (M1309I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602630	NM_001282857.2(XRN1):c.3809A>G (p.His1270Arg)	XRN1 (H1270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597025	NM_001282857.2(XRN1):c.715T>C (p.Cys239Arg)	XRN1 (C239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595942	NM_001282857.2(XRN1):c.3676C>T (p.Pro1226Ser)	XRN1 (P1226S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595743	NM_001282857.2(XRN1):c.4057G>A (p.Ala1353Thr)	XRN1 (A1353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594996	NM_001282857.2(XRN1):c.3359T>C (p.Val1120Ala)	XRN1 (V1120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590690	NM_001282857.2(XRN1):c.1043G>A (p.Arg348Gln)	XRN1 (R348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567166	NM_001282857.2(XRN1):c.1112A>G (p.Asn371Ser)	XRN1 (N371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552125	NM_001282857.2(XRN1):c.3530G>A (p.Arg1177His)	XRN1 (R1177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550979	NM_001282857.2(XRN1):c.2668A>C (p.Ser890Arg)	XRN1 (S890R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549970	NM_001282857.2(XRN1):c.995A>G (p.Asn332Ser)	XRN1 (N332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547788	NM_001282857.2(XRN1):c.3835A>G (p.Ser1279Gly)	XRN1 (S1279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538790	NM_001282857.2(XRN1):c.4622-385G>C	XRN1 (L1550F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533077	NM_001282857.2(XRN1):c.346A>T (p.Ile116Leu)	XRN1 (I116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526842	NM_001282857.2(XRN1):c.4585C>T (p.Pro1529Ser)	XRN1 (P1529S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516630	NM_001282857.2(XRN1):c.1319C>T (p.Thr440Met)	XRN1 (T440M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513198	NM_001282857.2(XRN1):c.3466T>G (p.Cys1156Gly)	XRN1 (C1156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495967	NM_001282857.2(XRN1):c.782A>C (p.Glu261Ala)	XRN1 (E261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493246	NM_001282857.2(XRN1):c.3593A>G (p.His1198Arg)	XRN1 (H1198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492823	NM_001282857.2(XRN1):c.2107G>A (p.Val703Ile)	XRN1 (V703I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491888	NM_001282857.2(XRN1):c.5068T>G (p.Ser1690Ala)	XRN1 (S1690A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475603	NM_001282857.2(XRN1):c.1403A>C (p.His468Pro)	XRN1 (H468P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471690	NM_001282857.2(XRN1):c.4801G>A (p.Ala1601Thr)	XRN1 (A1601T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465952	NM_001282857.2(XRN1):c.709C>T (p.Arg237Trp)	XRN1 (R237W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460476	NM_001282857.2(XRN1):c.4949C>T (p.Pro1650Leu)	XRN1 (P1650L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458103	NM_001282857.2(XRN1):c.2066T>C (p.Met689Thr)	XRN1 (M689T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456853	NM_001282857.2(XRN1):c.170A>T (p.Asp57Val)	XRN1 (D57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410072	NM_001282857.2(XRN1):c.4414G>A (p.Val1472Ile)	XRN1 (V1471I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406734	NM_001282857.2(XRN1):c.973A>G (p.Ile325Val)	XRN1 (I325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382354	NM_001282857.2(XRN1):c.151G>A (p.Val51Ile)	XRN1 (V51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363766	NM_001282857.2(XRN1):c.173A>G (p.Asp58Gly)	XRN1 (D58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352777	NM_001282857.2(XRN1):c.3989A>C (p.Glu1330Ala)	XRN1 (E1330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344539	NM_001282857.2(XRN1):c.4676C>T (p.Ser1559Leu)	XRN1 (S1559L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343971	NM_001282857.2(XRN1):c.1903G>C (p.Asp635His)	XRN1 (D635H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341741	NM_001282857.2(XRN1):c.1562C>T (p.Ala521Val)	XRN1 (A521V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337479	NM_001282857.2(XRN1):c.2639T>C (p.Ile880Thr)	XRN1 (I880T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333613	NM_001282857.2(XRN1):c.2740G>A (p.Gly914Arg)	XRN1 (G914R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330105	NM_001282857.2(XRN1):c.2518G>A (p.Asp840Asn)	XRN1 (D840N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315579	NM_001282857.2(XRN1):c.698A>G (p.Lys233Arg)	XRN1 (K233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294297	NM_001282857.2(XRN1):c.4648C>A (p.Leu1550Ile)	XRN1 (L1550I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285097	NM_001282857.2(XRN1):c.1403A>G (p.His468Arg)	XRN1 (H468R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279095	NM_001282857.2(XRN1):c.3639C>A (p.Asn1213Lys)	XRN1 (N1213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255193	NM_001282857.2(XRN1):c.938C>T (p.Thr313Ile)	XRN1 (T313I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252219	NM_001282857.2(XRN1):c.1273C>G (p.Leu425Val)	XRN1 (L425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251520	NM_001282857.2(XRN1):c.2569A>T (p.Ser857Cys)	XRN1 (S857C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236565	NM_001282857.2(XRN1):c.4018G>A (p.Glu1340Lys)	XRN1 (E1340K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233274	NM_001282857.2(XRN1):c.4610C>T (p.Pro1537Leu)	XRN1 (P1536L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224807	NM_001282857.2(XRN1):c.4658C>T (p.Ser1553Leu)	XRN1 (S1565L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221114	NM_001282857.2(XRN1):c.1159A>G (p.Lys387Glu)	XRN1 (K387E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218811	NM_001282857.2(XRN1):c.2139A>C (p.Lys713Asn)	XRN1 (K713N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1330552	NM_001282857.2(XRN1):c.4277T>C (p.Met1426Thr)	XRN1 (M1425T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814484	GRCh37/hg19 3q23(chr3:142098452-142306659)x3	ATR, XRN1	Copy number gain	not provided	GUncertain significance
Select item 774607	NM_001282857.2(XRN1):c.2617-9T>C	XRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717836	NM_001282857.2(XRN1):c.4230T>C (p.Tyr1410=)	XRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393964	GRCh37/hg19 3q23(chr3:141867689-142051761)x3	GK5, TFDP2 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic

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