ClinVar for Gene (Select 5108) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350298	NM_006197.4(PCM1):c.2959G>A (p.Val987Met)	PCM1 (V1026M +3 more)	Single nucleotide variant (missense variant +1 more)	PCM1-related disorder	GLikely benign
Select item 3348996	NM_006197.4(PCM1):c.905C>T (p.Ala302Val)	PCM1 (A302V +1 more)	Single nucleotide variant (missense variant +1 more)	PCM1-related disorder	GUncertain significance
Select item 3345435	NM_006197.4(PCM1):c.5657C>T (p.Ala1886Val)	PCM1 (A1823V +15 more)	Single nucleotide variant (missense variant +2 more)	PCM1-related disorder	GUncertain significance
Select item 3341619	NM_006197.4(PCM1):c.808A>G (p.Met270Val)	PCM1 (M270V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3305188	NM_006197.4(PCM1):c.4024G>A (p.Val1342Ile)	PCM1 (V1381I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305187	NM_006197.4(PCM1):c.2867A>G (p.Asn956Ser)	PCM1 (N956S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305186	NM_006197.4(PCM1):c.6046C>T (p.Pro2016Ser)	PCM1 (P1962S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305185	NM_006197.4(PCM1):c.3971C>T (p.Thr1324Ile)	PCM1 (T1324I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305184	NM_006197.4(PCM1):c.2345A>G (p.Asn782Ser)	PCM1 (N783S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305183	NM_006197.4(PCM1):c.3166C>T (p.His1056Tyr)	PCM1 (H1095Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305182	NM_006197.4(PCM1):c.340C>G (p.Gln114Glu)	PCM1 (Q114E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305181	NM_006197.4(PCM1):c.1826G>A (p.Gly609Glu)	PCM1 (G609E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305180	NM_006197.4(PCM1):c.4326A>T (p.Glu1442Asp)	PCM1 (E1481D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305178	NM_006197.4(PCM1):c.3248T>A (p.Met1083Lys)	PCM1 (M1123K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305177	NM_006197.4(PCM1):c.241C>T (p.His81Tyr)	PCM1 (H81Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305176	NM_006197.4(PCM1):c.3464A>C (p.Asn1155Thr)	PCM1 (N1155T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305175	NM_006197.4(PCM1):c.5689T>G (p.Ser1897Ala)	PCM1 (S1846A +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3305174	NM_006197.4(PCM1):c.5860A>T (p.Ile1954Leu)	PCM1 (I1892L +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305173	NM_006197.4(PCM1):c.2435C>G (p.Pro812Arg)	PCM1 (P812R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305172	NM_006197.4(PCM1):c.266T>A (p.Met89Lys)	PCM1 (M89K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305171	NM_006197.4(PCM1):c.65A>C (p.Asn22Thr)	PCM1 (N22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305170	NM_006197.4(PCM1):c.4090T>A (p.Ser1364Thr)	PCM1 (S1364T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305168	NM_006197.4(PCM1):c.3326G>C (p.Ser1109Thr)	PCM1 (S1148T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305167	NM_006197.4(PCM1):c.5605G>C (p.Val1869Leu)	PCM1 (V1810L +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3305166	NM_006197.4(PCM1):c.4075A>G (p.Ile1359Val)	PCM1 (I1360V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305165	NM_006197.4(PCM1):c.65A>G (p.Asn22Ser)	PCM1 (N22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257921	NM_006197.4(PCM1):c.3496T>G (p.Leu1166Val)	PCM1 (L1167V +3 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3210343	NM_006197.4(PCM1):c.998G>A (p.Ser333Asn)	PCM1 (S372N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210342	NM_006197.4(PCM1):c.6068G>A (p.Ser2023Asn)	PCM1 (S1960N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210341	NM_006197.4(PCM1):c.5855G>A (p.Gly1952Asp)	PCM1 (G1889D +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210340	NM_006197.4(PCM1):c.5840A>G (p.Tyr1947Cys)	PCM1 (Y1940C +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210339	NM_006197.4(PCM1):c.5728G>A (p.Glu1910Lys)	PCM1 (E1848K +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210338	NM_006197.4(PCM1):c.5659G>T (p.Ala1887Ser)	PCM1 (A1824S +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3210337	NM_006197.4(PCM1):c.5521C>T (p.Arg1841Cys)	PCM1 (R1778C +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210336	NM_006197.4(PCM1):c.5260T>G (p.Ser1754Ala)	PCM1 (S1700A +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210335	NM_006197.4(PCM1):c.5132C>G (p.Thr1711Ser)	PCM1 (T1648S +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210334	NM_006197.4(PCM1):c.5029T>C (p.Ser1677Pro)	PCM1 (S1623P +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210333	NM_006197.4(PCM1):c.494C>T (p.Thr165Met)	PCM1 (T165M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210331	NM_006197.4(PCM1):c.4745C>G (p.Thr1582Ser)	PCM1 (T1520S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210330	NM_006197.4(PCM1):c.4744A>G (p.Thr1582Ala)	PCM1 (T1519A +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210328	NM_006197.4(PCM1):c.4526A>T (p.Asp1509Val)	PCM1 (D1455V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210327	NM_006197.4(PCM1):c.4506T>G (p.Phe1502Leu)	PCM1 (F1447L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210326	NM_006197.4(PCM1):c.430T>A (p.Leu144Met)	PCM1 (L144M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210325	NM_006197.4(PCM1):c.4288G>A (p.Val1430Ile)	PCM1 (V1375I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210324	NM_006197.4(PCM1):c.4183C>G (p.Gln1395Glu)	PCM1 (Q1379E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210323	NM_006197.4(PCM1):c.4085A>G (p.Asn1362Ser)	PCM1 (N1408S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210322	NM_006197.4(PCM1):c.4034A>C (p.Lys1345Thr)	PCM1 (K1384T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210321	NM_006197.4(PCM1):c.3662A>T (p.Lys1221Ile)	PCM1 (K1222I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210320	NM_006197.4(PCM1):c.3157T>C (p.Phe1053Leu)	PCM1 (F1092L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210319	NM_006197.4(PCM1):c.307C>G (p.Leu103Val)	PCM1 (L103V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210318	NM_006197.4(PCM1):c.3007A>G (p.Ile1003Val)	PCM1 (I1042V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210317	NM_006197.4(PCM1):c.2965G>A (p.Glu989Lys)	PCM1 (E989K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210316	NM_006197.4(PCM1):c.2932A>G (p.Met978Val)	PCM1 (M979V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210315	NM_006197.4(PCM1):c.2786A>T (p.Asp929Val)	PCM1 (D930V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210314	NM_006197.4(PCM1):c.2609A>G (p.Asp870Gly)	PCM1 (D871G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210313	NM_006197.4(PCM1):c.2582C>G (p.Ser861Cys)	PCM1 (S861C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210312	NM_006197.4(PCM1):c.2485C>T (p.His829Tyr)	PCM1 (H868Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210311	NM_006197.4(PCM1):c.2153A>G (p.Asn718Ser)	PCM1 (N718S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210310	NM_006197.4(PCM1):c.2098T>C (p.Tyr700His)	PCM1 (Y739H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210309	NM_006197.4(PCM1):c.2019A>C (p.Gln673His)	PCM1 (Q673H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210308	NM_006197.4(PCM1):c.1869G>C (p.Glu623Asp)	PCM1 (E624D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210307	NM_006197.4(PCM1):c.1727G>A (p.Arg576Gln)	PCM1 (R576Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210306	NM_006197.4(PCM1):c.1642A>G (p.Ile548Val)	PCM1 (I548V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210304	NM_006197.4(PCM1):c.1306G>T (p.Val436Phe)	PCM1 (V436F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210303	NM_006197.4(PCM1):c.1306G>A (p.Val436Ile)	PCM1 (V436I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210301	NM_006197.4(PCM1):c.122C>T (p.Ala41Val)	PCM1 (A41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210300	NM_006197.4(PCM1):c.1214A>G (p.Glu405Gly)	PCM1 (E405G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210299	NM_006197.4(PCM1):c.1210C>G (p.Gln404Glu)	PCM1 (Q404E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210298	NM_006197.4(PCM1):c.1138A>C (p.Ser380Arg)	PCM1 (S380R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3051302	NM_006197.4(PCM1):c.2168A>T (p.Asp723Val)	PCM1 (D723V +3 more)	Single nucleotide variant (missense variant +1 more)	PCM1-related disorder	GLikely benign
Select item 3048257	NM_006197.4(PCM1):c.2655-4C>G	PCM1	Single nucleotide variant (intron variant)	PCM1-related disorder	GLikely benign
Select item 3042966	NM_006197.4(PCM1):c.1866GGA[3] (p.Glu627del)	PCM1 (E627del +3 more)	Microsatellite (non-coding transcript variant)	PCM1-related disorder	GLikely benign
Select item 3039177	NM_006197.4(PCM1):c.3391A>C (p.Asn1131His)	PCM1 (N1131H +3 more)	Single nucleotide variant (missense variant +1 more)	PCM1-related disorder	GLikely benign
Select item 2689672	NM_006197.4(PCM1):c.4996A>C (p.Lys1666Gln)	PCM1 (K1603Q +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689671	NM_006197.4(PCM1):c.1489C>T (p.Arg497Ter)	PCM1 (R497* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684532	GRCh37/hg19 8p22(chr8:17782821-18519318)x3	ASAH1, ASAH1-AS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2681471	NM_006197.4(PCM1):c.2365A>G (p.Met789Val)	PCM1 (M789V +3 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658454	NM_006197.4(PCM1):c.6037C>G (p.Leu2013Val)	PCM1 (L1848V +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2658453	NM_006197.4(PCM1):c.4908T>C (p.Asp1636=)	PCM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658452	NM_006197.4(PCM1):c.4257A>G (p.Arg1419=)	PCM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658451	NM_006197.4(PCM1):c.3741C>T (p.Asn1247=)	PCM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658450	NM_006197.4(PCM1):c.3688G>C (p.Val1230Leu)	PCM1 (V1230L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2658449	NM_006197.4(PCM1):c.1364A>G (p.Asn455Ser)	PCM1 (N455S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2658448	NM_006197.4(PCM1):c.507A>C (p.Ala169=)	PCM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636642	NM_006197.4(PCM1):c.5527T>C (p.Phe1843Leu)	PCM1 (F1780L +15 more)	Single nucleotide variant (missense variant +2 more)	PCM1-related disorder	GUncertain significance
Select item 2623805	NM_006197.4(PCM1):c.2401C>T (p.His801Tyr)	PCM1 (H802Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622221	NM_006197.4(PCM1):c.2800T>C (p.Cys934Arg)	PCM1 (C934R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620472	NM_006197.4(PCM1):c.302A>G (p.Glu101Gly)	PCM1 (E101G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614080	NM_006197.4(PCM1):c.1433G>A (p.Ser478Asn)	PCM1 (S517N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613167	NM_006197.4(PCM1):c.5605G>A (p.Val1869Met)	PCM1 (V1814M +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611457	NM_006197.4(PCM1):c.3226A>G (p.Lys1076Glu)	PCM1 (K1116E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611178	NM_006197.4(PCM1):c.500G>A (p.Gly167Glu)	PCM1 (G167E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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