219285[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 148490	GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1	BET1, BET1-AS1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 1216669	NM_152703.5(SAMD9L):c.*99C>T	SAMD9L	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2443255	NM_152703.5(SAMD9L):c.4736A>G (p.Tyr1579Cys)	SAMD9L (Y1579C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2060239	NM_152703.5(SAMD9L):c.4734A>G (p.Ala1578=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3372956	NM_152703.5(SAMD9L):c.4730T>C (p.Leu1577Pro)	SAMD9L (L1577P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336548	NM_152703.5(SAMD9L):c.4718T>C (p.Ile1573Thr)	SAMD9L (I1573T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1320475	NM_152703.5(SAMD9L):c.4718T>A (p.Ile1573Asn)	SAMD9L (I1573N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1365581	NM_152703.5(SAMD9L):c.4708G>T (p.Gly1570Ter)	SAMD9L (G1570*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1993059	NM_152703.5(SAMD9L):c.4689_4692del (p.Arg1564fs)	SAMD9L (R1564fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2754990	NM_152703.5(SAMD9L):c.4679G>T (p.Arg1560Met)	SAMD9L (R1560M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2422110	NM_152703.5(SAMD9L):c.4677T>C (p.Gly1559=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947449	NM_152703.5(SAMD9L):c.4668C>T (p.Leu1556=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662854	NM_152703.5(SAMD9L):c.4665A>T (p.Pro1555=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633730	NM_152703.5(SAMD9L):c.4661G>C (p.Gly1554Ala)	SAMD9L (G1554A)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +1 more	GUncertain significance
Select item 1320284	NM_152703.5(SAMD9L):c.4654T>A (p.Tyr1552Asn)	SAMD9L (Y1552N)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1	GLikely pathogenic
Select item 1520277	NM_152703.5(SAMD9L):c.4646T>C (p.Ile1549Thr)	SAMD9L (I1549T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943513	NM_152703.5(SAMD9L):c.4642G>A (p.Val1548Ile)	SAMD9L (V1548I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574197	NM_152703.5(SAMD9L):c.4629A>C (p.Lys1543Asn)	SAMD9L (K1543N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991369	NM_152703.5(SAMD9L):c.4629A>G (p.Lys1543=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798020	NM_152703.5(SAMD9L):c.4624G>A (p.Glu1542Lys)	SAMD9L (E1542K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476631	NM_152703.5(SAMD9L):c.4621G>C (p.Glu1541Gln)	SAMD9L (E1541Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657672	NM_152703.5(SAMD9L):c.4616G>A (p.Gly1539Glu)	SAMD9L (G1539E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602536	NM_152703.5(SAMD9L):c.4614T>C (p.Tyr1538=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1397372	NM_152703.5(SAMD9L):c.4613A>G (p.Tyr1538Cys)	SAMD9L (Y1538C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943674	NM_152703.5(SAMD9L):c.4607T>C (p.Val1536Ala)	SAMD9L (V1536A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973346	NM_152703.5(SAMD9L):c.4599A>G (p.Leu1533=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181591	NM_152703.5(SAMD9L):c.4588G>A (p.Glu1530Lys)	SAMD9L (E1530K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373941	NM_152703.5(SAMD9L):c.4585G>T (p.Ala1529Ser)	SAMD9L (A1529S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784293	NM_152703.5(SAMD9L):c.4575A>G (p.Leu1525=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337478	NM_152703.5(SAMD9L):c.4571G>A (p.Arg1524His)	SAMD9L (R1524H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2172157	NM_152703.5(SAMD9L):c.4568G>A (p.Arg1523His)	SAMD9L (R1523H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1357387	NM_152703.5(SAMD9L):c.4567C>T (p.Arg1523Cys)	SAMD9L (R1523C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372633	NM_152703.5(SAMD9L):c.4560CCT[1] (p.Leu1522del)	SAMD9L (L1522del)	Microsatellite	not provided	GUncertain significance
Select item 1941863	NM_152703.5(SAMD9L):c.4564C>T (p.Leu1522=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997077	NM_152703.5(SAMD9L):c.4561C>T (p.Leu1521Phe)	SAMD9L (L1521F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442411	NM_152703.5(SAMD9L):c.4558G>C (p.Asp1520His)	SAMD9L (D1520H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343723	NM_152703.5(SAMD9L):c.4552G>C (p.Val1518Leu)	SAMD9L (V1518L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169095	NM_152703.5(SAMD9L):c.4547A>C (p.Asn1516Thr)	SAMD9L (N1516T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2136077	NM_152703.5(SAMD9L):c.4540A>G (p.Lys1514Glu)	SAMD9L (K1514E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632147	NM_152703.5(SAMD9L):c.4537T>C (p.Trp1513Arg)	SAMD9L (W1513R)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 988630	NM_152703.5(SAMD9L):c.4535T>C (p.Val1512Ala)	SAMD9L	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319843	NM_152703.5(SAMD9L):c.4534G>A (p.Val1512Met)	SAMD9L (V1512M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2126049	NM_152703.5(SAMD9L):c.4530G>A (p.Gly1510=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337093	NM_152703.5(SAMD9L):c.4512T>G (p.Asn1504Lys)	SAMD9L (N1504K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1327575	NM_152703.5(SAMD9L):c.4508C>T (p.Thr1503Ile)	SAMD9L (T1503I)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome +1 more	GUncertain significance
Select item 1715759	NM_152703.5(SAMD9L):c.4493A>G (p.Asp1498Gly)	SAMD9L (D1498G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727703	NM_152703.5(SAMD9L):c.4491T>C (p.Phe1497=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2010583	NM_152703.5(SAMD9L):c.4485G>C (p.Gln1495His)	SAMD9L (Q1495H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371610	NM_152703.5(SAMD9L):c.4483C>T (p.Gln1495Ter)	SAMD9L (Q1495*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2829549	NM_152703.5(SAMD9L):c.4483C>G (p.Gln1495Glu)	SAMD9L (Q1495E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985255	NM_152703.5(SAMD9L):c.4482G>A (p.Glu1494=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729527	NM_152703.5(SAMD9L):c.4462G>A (p.Val1488Ile)	SAMD9L (V1488I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2753012	NM_152703.5(SAMD9L):c.4461T>G (p.Ile1487Met)	SAMD9L (I1487M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336435	NM_152703.5(SAMD9L):c.4461T>C (p.Ile1487=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2758628	NM_152703.5(SAMD9L):c.4456_4457del (p.Ser1486fs)	SAMD9L (S1486fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2323273	NM_152703.5(SAMD9L):c.4455C>G (p.Asn1485Lys)	SAMD9L (N1485K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2903301	NM_152703.5(SAMD9L):c.4436G>C (p.Gly1479Ala)	SAMD9L (G1479A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061781	NM_152703.5(SAMD9L):c.4434G>A (p.Leu1478=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795567	NM_152703.5(SAMD9L):c.4430A>G (p.Tyr1477Cys)	SAMD9L (Y1477C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494688	NM_152703.5(SAMD9L):c.4430A>C (p.Tyr1477Ser)	SAMD9L (Y1477S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2872056	NM_152703.5(SAMD9L):c.4429T>C (p.Tyr1477His)	SAMD9L (Y1477H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338102	NM_152703.5(SAMD9L):c.4428C>T (p.Phe1476=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2959550	NM_152703.5(SAMD9L):c.4425T>C (p.Leu1475=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160742	NM_152703.5(SAMD9L):c.4422A>T (p.Thr1474=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2418948	NM_152703.5(SAMD9L):c.4418G>A (p.Ser1473Asn)	SAMD9L (S1473N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2829637	NM_152703.5(SAMD9L):c.4414G>A (p.Ala1472Thr)	SAMD9L (A1472T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518244	NM_152703.5(SAMD9L):c.4397T>C (p.Met1466Thr)	SAMD9L (M1466T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745430	NM_152703.5(SAMD9L):c.4395C>A (p.Arg1465=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741674	NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His)	SAMD9L (R1465H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1937504	NM_152703.5(SAMD9L):c.4393C>G (p.Arg1465Gly)	SAMD9L (R1465G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393033	NM_152703.5(SAMD9L):c.4393C>T (p.Arg1465Cys)	SAMD9L (R1465C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413097	NM_152703.5(SAMD9L):c.4390A>G (p.Lys1464Glu)	SAMD9L (K1464E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787078	NM_152703.5(SAMD9L):c.4386G>A (p.Gln1462=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337126	NM_152703.5(SAMD9L):c.4383A>C (p.Gly1461=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1667728	NM_152703.5(SAMD9L):c.4374C>A (p.Ser1458=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572820	NM_152703.5(SAMD9L):c.4371A>T (p.Arg1457Ser)	SAMD9L (R1457S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871430	NM_152703.5(SAMD9L):c.4368T>A (p.Asn1456Lys)	SAMD9L (N1456K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2663577	NM_152703.5(SAMD9L):c.4358C>T (p.Ser1453Leu)	SAMD9L (S1453L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656813	NM_152703.5(SAMD9L):c.4353T>C (p.Tyr1451=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662213	NM_152703.5(SAMD9L):c.4332T>A (p.Asp1444Glu)	SAMD9L (D1444E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793477	NM_152703.5(SAMD9L):c.4327C>G (p.Gln1443Glu)	SAMD9L (Q1443E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305466	NM_152703.5(SAMD9L):c.4326T>A (p.Asp1442Glu)	SAMD9L (D1442E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157722	NM_152703.5(SAMD9L):c.4324G>C (p.Asp1442His)	SAMD9L (D1442H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057841	NM_152703.5(SAMD9L):c.4308A>G (p.Pro1436=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 1809814	NM_152703.5(SAMD9L):c.4303T>C (p.Trp1435Arg)	SAMD9L (W1435R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842171	NM_152703.5(SAMD9L):c.4302C>G (p.Phe1434Leu)	SAMD9L (F1434L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519066	NM_152703.5(SAMD9L):c.4298T>C (p.Leu1433Pro)	SAMD9L (L1433P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1986332	NM_152703.5(SAMD9L):c.4296C>T (p.Leu1432=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3005331	NM_152703.5(SAMD9L):c.4293C>T (p.Cys1431=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861834	NM_152703.5(SAMD9L):c.4291T>C (p.Cys1431Arg)	SAMD9L (C1431R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013729	NM_152703.5(SAMD9L):c.4274G>A (p.Gly1425Asp)	SAMD9L (G1425D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713469	NM_152703.5(SAMD9L):c.4262A>G (p.His1421Arg)	SAMD9L (H1421R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903418	NM_152703.5(SAMD9L):c.4261C>T (p.His1421Tyr)	SAMD9L (H1421Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437441	NM_152703.5(SAMD9L):c.4259G>A (p.Ser1420Asn)	SAMD9L (S1420N)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1 +1 more	GUncertain significance
Select item 1957050	NM_152703.5(SAMD9L):c.4258A>T (p.Ser1420Cys)	SAMD9L (S1420C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880603	NM_152703.5(SAMD9L):c.4247T>C (p.Phe1416Ser)	SAMD9L (F1416S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699591	NM_152703.5(SAMD9L):c.4244A>T (p.Gln1415Leu)	SAMD9L (Q1415L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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