ClinVar for Gene (Select 5108) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	DEFB134, DEFB135 +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 (inframe deletion +1 more)	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	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
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 +1 more	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
Select item 2609462	NM_006197.4(PCM1):c.395G>T (p.Arg132Leu)	PCM1 (R132L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603082	NM_006197.4(PCM1):c.506C>T (p.Ala169Val)	PCM1 (A169V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601954	NM_006197.4(PCM1):c.4294A>G (p.Arg1432Gly)	PCM1 (R1478G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601822	NM_006197.4(PCM1):c.5114A>G (p.Lys1705Arg)	PCM1 (K1650R +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601687	NM_006197.4(PCM1):c.1183G>C (p.Glu395Gln)	PCM1 (E395Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2596739	NM_006197.4(PCM1):c.1879G>A (p.Glu627Lys)	PCM1 (E667K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592455	NM_006197.4(PCM1):c.3517A>G (p.Lys1173Glu)	PCM1 (K1173E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590920	NM_006197.4(PCM1):c.1715A>G (p.Asn572Ser)	PCM1 (N572S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2568963	NM_006197.4(PCM1):c.3917A>G (p.Gln1306Arg)	PCM1 (Q1307R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559075	NM_006197.4(PCM1):c.1061G>C (p.Arg354Pro)	PCM1 (R393P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557046	NM_006197.4(PCM1):c.5096C>G (p.Thr1699Ser)	PCM1 (T1640S +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556637	NM_006197.4(PCM1):c.2938C>T (p.Arg980Trp)	PCM1 (R980W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553042	NM_006197.4(PCM1):c.3742G>A (p.Gly1248Arg)	PCM1 (G1287R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2535625	NM_006197.4(PCM1):c.3212A>C (p.Asn1071Thr)	PCM1 (N1110T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530374	NM_006197.4(PCM1):c.5462C>T (p.Ser1821Phe)	PCM1 (S1758F +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525607	NM_006197.4(PCM1):c.2213A>G (p.Lys738Arg)	PCM1 (K739R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525443	NM_006197.4(PCM1):c.3628C>T (p.Pro1210Ser)	PCM1 (P1210S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521816	NM_006197.4(PCM1):c.112C>A (p.Gln38Lys)	PCM1 (Q38K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515544	NM_006197.4(PCM1):c.4640T>C (p.Ile1547Thr)	PCM1 (I1532T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515415	NM_006197.4(PCM1):c.5567G>A (p.Arg1856Gln)	PCM1 (R1856Q +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2515414	NM_006197.4(PCM1):c.5524G>C (p.Asp1842His)	PCM1 (D1783H +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512425	NM_006197.4(PCM1):c.3805G>T (p.Asp1269Tyr)	PCM1 (D1309Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511224	NM_006197.4(PCM1):c.2516G>C (p.Arg839Thr)	PCM1 (R879T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511166	NM_006197.4(PCM1):c.2195A>G (p.Glu732Gly)	PCM1 (E732G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510435	NM_006197.4(PCM1):c.4625G>C (p.Cys1542Ser)	PCM1 (C1526S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508993	NM_006197.4(PCM1):c.4777C>A (p.Leu1593Met)	PCM1 (L1530M +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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