ClinVar for Gene (Select 9698) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239127	NM_001020658.2(PUM1):c.1245G>A (p.Pro415=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3238747	NM_001020658.2(PUM1):c.50C>T (p.Ser17Phe)	PUM1 (S17F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 47	GUncertain significance
Select item 3234478	NC_000001.11:g.31065768C>G	PUM1	Single nucleotide variant	not provided	GLikely benign
Select item 3149786	NM_001020658.2(PUM1):c.983C>G (p.Thr328Ser)	PUM1 (T328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149785	NM_001020658.2(PUM1):c.2975T>C (p.Ile992Thr)	PUM1 (I990T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149784	NM_001020658.2(PUM1):c.263A>C (p.Gln88Pro)	PUM1 (Q88P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3149783	NM_001020658.2(PUM1):c.2500G>T (p.Glu834Ter)	PUM1 (E834*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3149782	NM_001020658.2(PUM1):c.1534C>G (p.Pro512Ala)	PUM1 (P512A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068915	NM_001020658.2(PUM1):c.2881G>C (p.Gly961Arg)	PUM1 (G959R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064713	NM_001020658.2(PUM1):c.2342G>A (p.Ser781Asn)	PUM1 (S781N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism	GUncertain significance
Select item 3057277	NM_001020658.2(PUM1):c.60C>G (p.Pro20=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 3054980	NM_001020658.2(PUM1):c.3282G>A (p.Thr1094=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 3053274	NM_001020658.2(PUM1):c.3120+8A>T	PUM1	Single nucleotide variant (intron variant)	PUM1-related disorder	GBenign
Select item 3053019	NM_001020658.2(PUM1):c.3120+7G>T	PUM1	Single nucleotide variant (intron variant)	PUM1-related disorder	GBenign
Select item 3052957	NM_001020658.2(PUM1):c.3220T>C (p.Leu1074=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 3050789	NM_001020658.2(PUM1):c.1560G>A (p.Gln520=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 3049405	NM_001020658.2(PUM1):c.153T>C (p.Ala51=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 3046214	NM_001020658.2(PUM1):c.354A>G (p.Ala118=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 3044415	NM_001020658.2(PUM1):c.2323+10A>G	PUM1	Single nucleotide variant (intron variant)	PUM1-related disorder	GLikely benign
Select item 3041155	NM_001020658.2(PUM1):c.1018A>C (p.Met340Leu)	PUM1 (M340L)	Single nucleotide variant (missense variant)	PUM1-related disorder	GBenign
Select item 3038935	NM_001020658.2(PUM1):c.1803C>T (p.Ala601=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 3034237	NM_001020658.2(PUM1):c.1850A>G (p.Asn617Ser)	PUM1 (N617S)	Single nucleotide variant (missense variant)	PUM1-related disorder	GBenign
Select item 3034180	NM_001020658.2(PUM1):c.366G>A (p.Val122=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 3026832	NC_000001.11:g.31065735G>A	PUM1	Single nucleotide variant	not provided	GLikely benign
Select item 3026108	NM_001020658.2(PUM1):c.1134T>C (p.Leu378=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3025349	NM_001020658.2(PUM1):c.2648A>G (p.Asn883Ser)	LOC126805680, PUM1 (N883S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2901483	NM_001020658.2(PUM1):c.3365A>T (p.Tyr1122Phe)	PUM1 (Y1120F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682270	NM_001020658.2(PUM1):c.1876C>T (p.Gln626Ter)	PUM1 (Q626*)	Single nucleotide variant (nonsense)	PUM1-related disorder	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2664584	NM_001020658.2(PUM1):c.1676A>G (p.Tyr559Cys)	PUM1 (Y559C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663728	NM_001020658.2(PUM1):c.2669A>G (p.Tyr890Cys)	LOC126805680, PUM1 (Y890C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661933	NM_001020658.2(PUM1):c.1646-4del	PUM1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2661920	NM_001020658.2(PUM1):c.3106G>A (p.Glu1036Lys)	PUM1 (E1034K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638599	NM_001020658.2(PUM1):c.1182T>C (p.Leu394=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2638598	NM_001020658.2(PUM1):c.1248C>T (p.His416=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638597	NM_001020658.2(PUM1):c.1437C>T (p.Ala479=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638596	NM_001020658.2(PUM1):c.1938C>T (p.Tyr646=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638595	NM_001020658.2(PUM1):c.2722-8A>T	PUM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2638594	NM_001020658.2(PUM1):c.2976C>T (p.Ile992=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638593	NM_001020658.2(PUM1):c.3291T>C (p.Ala1097=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder +1 more	GBenign/Likely benign
Select item 2637542	NM_001020658.2(PUM1):c.1252+17A>G	PUM1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2636542	NM_001020658.2(PUM1):c.2615G>T (p.Arg872Leu)	LOC126805680, PUM1 (R872L)	Single nucleotide variant (missense variant)	PUM1-related disorder +1 more	GUncertain significance
Select item 2635719	NM_001020658.2(PUM1):c.1712C>T (p.Ala571Val)	PUM1 (A571V)	Single nucleotide variant (missense variant)	PUM1-related disorder	GUncertain significance
Select item 2634844	NM_001020658.2(PUM1):c.2519G>A (p.Arg840Gln)	PUM1 (R840Q)	Single nucleotide variant (missense variant)	PUM1-related disorder	GUncertain significance
Select item 2632420	NM_001020658.2(PUM1):c.2700C>G (p.Tyr900Ter)	LOC126805680, PUM1 (Y900*)	Single nucleotide variant (nonsense)	PUM1-related disorder	GUncertain significance
Select item 2631382	NM_001020658.2(PUM1):c.3301G>A (p.Asp1101Asn)	PUM1 (D1099N +1 more)	Single nucleotide variant (missense variant)	PUM1-related disorder	GUncertain significance
Select item 2628829	NM_001020658.2(PUM1):c.1303C>T (p.Pro435Ser)	PUM1 (P435S)	Single nucleotide variant (missense variant)	PUM1-related disorder	GUncertain significance
Select item 2628443	NM_001020658.2(PUM1):c.299G>T (p.Gly100Val)	PUM1 (G100V)	Single nucleotide variant (missense variant)	PUM1-related disorder	GUncertain significance
Select item 2610902	NM_001020658.2(PUM1):c.1145A>G (p.Asn382Ser)	PUM1 (N382S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582754	NM_001020658.2(PUM1):c.2592-5T>G	LOC126805680, PUM1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia 47	GUncertain significance
Select item 2580900	NM_001020658.2(PUM1):c.364-4A>G	PUM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2580519	NM_001020658.2(PUM1):c.1877AGC[1] (p.Gln627del)	PUM1 (Q627del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2580487	NM_001020658.2(PUM1):c.1855C>T (p.Pro619Ser)	PUM1 (P619S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579913	NM_001020658.2(PUM1):c.58C>T (p.Pro20Ser)	PUM1 (P20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579492	NM_001020658.2(PUM1):c.3548C>T (p.Pro1183Leu)	PUM1 (P1181L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578297	NM_001020658.2(PUM1):c.2813T>C (p.Ile938Thr)	PUM1 (I938T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576121	NM_001020658.2(PUM1):c.1025_1039del (p.Ser342_Pro346del)	PUM1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2576120	NM_001020658.2(PUM1):c.1738C>T (p.Arg580Ter)	PUM1 (R580*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2575648	NM_001020658.2(PUM1):c.1826C>T (p.Ala609Val)	PUM1 (A609V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575597	NM_001020658.2(PUM1):c.179C>G (p.Thr60Ser)	PUM1 (T60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574463	NM_001020658.2(PUM1):c.3422T>C (p.Ile1141Thr)	PUM1 (I1139T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571719	NM_001020658.2(PUM1):c.973C>G (p.Leu325Val)	PUM1 (L325V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570718	NM_001020658.2(PUM1):c.301G>A (p.Gly101Ser)	PUM1 (G101S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541553	NM_001020658.2(PUM1):c.1958G>A (p.Ser653Asn)	PUM1 (S653N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535824	NM_001020658.2(PUM1):c.185C>T (p.Ser62Phe)	PUM1 (S62F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517460	NM_001020658.2(PUM1):c.2528A>G (p.Asn843Ser)	PUM1 (N843S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505832	NM_001020658.2(PUM1):c.1921G>A (p.Ala641Thr)	PUM1 (A641T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499190	NM_001020658.2(PUM1):c.2637G>T (p.Gln879His)	LOC126805680, PUM1 (Q879H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491492	NM_001020658.2(PUM1):c.1244C>G (p.Pro415Arg)	PUM1 (P415R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483934	NM_001020658.2(PUM1):c.3167G>A (p.Arg1056His)	PUM1 (R1056H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2475871	NM_001020658.2(PUM1):c.1918C>G (p.Leu640Val)	PUM1 (L640V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466027	NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)	PUM1 (A433T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 47 +1 more	GUncertain significance
Select item 2446189	NM_001020658.2(PUM1):c.3325G>A (p.Gly1109Ser)	PUM1 (G1107S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429169	NM_001020658.2(PUM1):c.535A>G (p.Thr179Ala)	PUM1 (T179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367523	NM_001020658.2(PUM1):c.1280A>G (p.Asn427Ser)	PUM1 (N427S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363668	NM_001020658.2(PUM1):c.962_965dup (p.Ala323fs)	PUM1 (A323fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2347117	NM_001020658.2(PUM1):c.2087T>C (p.Val696Ala)	PUM1 (V696A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342728	NM_001020658.2(PUM1):c.2854A>G (p.Ile952Val)	PUM1 (I952V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2335213	NM_001020658.2(PUM1):c.2401G>A (p.Ala801Thr)	PUM1 (A801T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313627	NM_001020658.2(PUM1):c.1121C>T (p.Ala374Val)	PUM1 (A374V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306251	NM_001020658.2(PUM1):c.2333C>A (p.Thr778Lys)	PUM1 (T778K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301741	NM_001020658.2(PUM1):c.2258C>T (p.Pro753Leu)	PUM1 (P753L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267435	NM_001020658.2(PUM1):c.2402C>T (p.Ala801Val)	PUM1 (A801V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253655	NM_001020658.2(PUM1):c.3277C>T (p.Arg1093Cys)	PUM1 (R1093C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245690	NM_001020658.2(PUM1):c.874G>A (p.Val292Ile)	PUM1 (V292I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233933	NM_001020658.2(PUM1):c.739A>C (p.Ser247Arg)	PUM1 (S247R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232761	NM_001020658.2(PUM1):c.1237C>T (p.His413Tyr)	PUM1 (H413Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231114	NM_001020658.2(PUM1):c.1178C>T (p.Ala393Val)	PUM1 (A393V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227027	NM_001020658.2(PUM1):c.1360G>A (p.Ala454Thr)	PUM1 (A454T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214341	NM_001020658.2(PUM1):c.2033G>A (p.Ser678Asn)	PUM1 (S678N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879082	NM_001020658.2(PUM1):c.2043C>T (p.Leu681=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1806827	NM_001020658.2(PUM1):c.1414_1443del (p.Ser472_Ala481del)	PUM1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1806526	NM_001020658.2(PUM1):c.547T>A (p.Ser183Thr)	PUM1 (S183T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804548	NM_001020658.2(PUM1):c.185C>G (p.Ser62Cys)	PUM1 (S62C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804474	NM_001020658.2(PUM1):c.47A>G (p.Asp16Gly)	PUM1 (D16G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804428	NM_001020658.2(PUM1):c.251T>A (p.Phe84Tyr)	PUM1 (F84Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804268	NM_001020658.2(PUM1):c.1463C>G (p.Ala488Gly)	PUM1 (A488G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803448	NM_001020658.2(PUM1):c.1759G>A (p.Val587Ile)	PUM1 (V587I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710636	NM_001020658.2(PUM1):c.275A>G (p.Gln92Arg)	PUM1 (Q92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710470	NM_001020658.2(PUM1):c.1972A>C (p.Ser658Arg)	PUM1 (S658R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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