5075[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 2380123	NM_001257096.2(PAX1):c.8T>C (p.Phe3Ser)	PAX1 (F3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2003620	NM_001257096.2(PAX1):c.18C>A (p.Gly6=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805524	NM_001257096.2(PAX1):c.24del (p.Ser9fs)	PAX1 (S9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1716509	NM_001257096.2(PAX1):c.23G>A (p.Gly8Glu)	PAX1 (G8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406650	NM_001257096.2(PAX1):c.29G>A (p.Arg10Gln)	PAX1 (R10Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466106	NM_001257096.2(PAX1):c.32C>G (p.Ala11Gly)	PAX1 (A11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168697	NM_001257096.2(PAX1):c.32C>T (p.Ala11Val)	PAX1 (A11V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2156570	NM_001257096.2(PAX1):c.33G>T (p.Ala11=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250148	NM_001257096.2(PAX1):c.44C>G (p.Ser15Cys)	PAX1 (S15C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1460324	NM_001257096.2(PAX1):c.47G>A (p.Trp16Ter)	PAX1 (W16*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2268517	NM_001257096.2(PAX1):c.48G>T (p.Trp16Cys)	PAX1 (W16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1440551	NM_001257096.2(PAX1):c.52G>C (p.Gly18Arg)	PAX1 (G18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425417	NM_001257096.2(PAX1):c.53G>C (p.Gly18Ala)	PAX1 (G18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 793592	NM_001257096.2(PAX1):c.54G>A (p.Gly18=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495567	NM_001257096.2(PAX1):c.55G>A (p.Ala19Thr)	PAX1 (A19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386395	NM_001257096.2(PAX1):c.62C>G (p.Ala21Gly)	PAX1 (A21G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943377	NM_001257096.2(PAX1):c.63G>A (p.Ala21=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721776	NM_001257096.2(PAX1):c.63G>T (p.Ala21=)	PAX1	Single nucleotide variant (synonymous variant)	PAX1-related disorder +1 more	GLikely benign
Select item 2908883	NM_001257096.2(PAX1):c.69G>A (p.Ala23=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980573	NM_001257096.2(PAX1):c.69G>C (p.Ala23=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959561	NM_001257096.2(PAX1):c.72A>C (p.Ala24=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884764	NM_001257096.2(PAX1):c.75C>T (p.Gly25=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475574	NM_001257096.2(PAX1):c.77C>T (p.Pro26Leu)	PAX1 (P26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884765	NM_001257096.2(PAX1):c.78T>C (p.Pro26=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730360	NM_001257096.2(PAX1):c.84G>C (p.Ala28=)	PAX1	Single nucleotide variant (synonymous variant)	PAX1-related disorder +1 more	GBenign/Likely benign
Select item 726728	NM_001257096.2(PAX1):c.84G>T (p.Ala28=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886537	NM_001257096.2(PAX1):c.90C>T (p.Gly30=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371856	NM_001257096.2(PAX1):c.93C>T (p.Ser31=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3208971	NM_001257096.2(PAX1):c.94G>C (p.Ala32Pro)	PAX1 (A32P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031025	NM_001257096.2(PAX1):c.95C>T (p.Ala32Val)	PAX1 (A32V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2197474	NM_001257096.2(PAX1):c.96G>C (p.Ala32=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509045	NM_001257096.2(PAX1):c.97C>T (p.Leu33Phe)	PAX1 (L33F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168698	NM_001257096.2(PAX1):c.98T>C (p.Leu33Pro)	PAX1 (L33P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1924468	NM_001257096.2(PAX1):c.104G>A (p.Cys35Tyr)	PAX1 (C35Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729035	NM_001257096.2(PAX1):c.106C>G (p.Arg36Gly)	PAX1 (R36G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1485639	NM_001257096.2(PAX1):c.107G>A (p.Arg36His)	PAX1 (R36H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355743	NM_001257096.2(PAX1):c.112C>T (p.Gln38Ter)	PAX1 (Q38*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 423294	NM_001257096.2(PAX1):c.115C>T (p.Arg39Cys)	PAX1 (R39C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1445903	NM_001257096.2(PAX1):c.116G>A (p.Arg39His)	PAX1 (R39H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863425	NM_001257096.2(PAX1):c.120C>T (p.Val40=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480127	NM_001257096.2(PAX1):c.131G>A (p.Arg44Gln)	PAX1 (R44Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959800	NM_001257096.2(PAX1):c.132G>T (p.Arg44=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144827	NM_001257096.2(PAX1):c.136_149dup (p.Arg51fs)	PAX1 (R51fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2260958	NM_001257096.2(PAX1):c.137G>C (p.Gly46Ala)	PAX1 (G46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1451400	NM_001257096.2(PAX1):c.154_160dup (p.Gly54fs)	PAX1 (G54fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2981473	NM_001257096.2(PAX1):c.153G>A (p.Arg51=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052447	NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)	PAX1 (S53*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1413708	NM_001257096.2(PAX1):c.158C>T (p.Ser53Leu)	PAX1 (S53L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442688	NM_001257096.2(PAX1):c.159G>A (p.Ser53=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2598453	NM_001257096.2(PAX1):c.164C>T (p.Ala55Val)	PAX1 (A55V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1499679	NM_001257096.2(PAX1):c.169C>T (p.Pro57Ser)	PAX1 (P57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960511	NM_001257096.2(PAX1):c.172C>T (p.Leu58=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000586	NM_001257096.2(PAX1):c.177C>A (p.Cys59Ter)	PAX1 (C59*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2792599	NM_001257096.2(PAX1):c.182C>T (p.Ser61Leu)	PAX1 (S61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910830	NM_001257096.2(PAX1):c.185GCG[8] (p.Gly66_Ala67insGlyGlyGly)	PAX1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1019280	NM_001257096.2(PAX1):c.185GCG[6] (p.Gly66dup)	PAX1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1964787	NM_001257096.2(PAX1):c.185G>C (p.Arg62Pro)	PAX1 (R62P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394670	NM_001257096.2(PAX1):c.185G>A (p.Arg62His)	PAX1 (R62H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3208968	NM_001257096.2(PAX1):c.191G>A (p.Gly64Asp)	PAX1 (G64D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1552599	NM_001257096.2(PAX1):c.192C>T (p.Gly64=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481623	NM_001257096.2(PAX1):c.193G>A (p.Gly65Ser)	PAX1 (G65S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143501	NM_001257096.2(PAX1):c.197dup (p.Ala67fs)	PAX1 (A67fs)	Duplication (frameshift variant)	Otofaciocervical syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1391894	NM_001257096.2(PAX1):c.197G>C (p.Gly66Ala)	PAX1 (G66A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004531	NM_001257096.2(PAX1):c.201_202del (p.Gln68fs)	PAX1 (Q68fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1552099	NM_001257096.2(PAX1):c.204A>G (p.Gln68=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1448652	NM_001257096.2(PAX1):c.209T>C (p.Leu70Pro)	PAX1 (L70P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118238	NM_001257096.2(PAX1):c.210C>T (p.Leu70=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959570	NM_001257096.2(PAX1):c.213G>C (p.Pro71=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514163	NM_001257096.2(PAX1):c.217T>G (p.Cys73Gly)	PAX1 (C73G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462455	NM_001257096.2(PAX1):c.218G>C (p.Cys73Ser)	PAX1 (C73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577176	NM_001257096.2(PAX1):c.219C>T (p.Cys73=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000543	NM_001257096.2(PAX1):c.225del (p.Ser77fs)	PAX1 (S77fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1609560	NM_001257096.2(PAX1):c.225G>A (p.Gly75=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992047	NM_001257096.2(PAX1):c.230_238dup (p.Gly79_His80insArgProGly)	PAX1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1973609	NM_001257096.2(PAX1):c.229A>C (p.Ser77Arg)	PAX1 (S77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497388	NM_001257096.2(PAX1):c.238CACCCCGGC[3] (p.80HPG[3])	PAX1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2794383	NM_001257096.2(PAX1):c.231C>T (p.Ser77=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1397731	NM_001257096.2(PAX1):c.238CACCCCGGC[1] (p.80HPG[1])	PAX1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1899282	NM_001257096.2(PAX1):c.234C>T (p.Pro78=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2296264	NM_001257096.2(PAX1):c.235G>C (p.Gly79Arg)	PAX1 (G79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1503047	NM_001257096.2(PAX1):c.235G>A (p.Gly79Ser)	PAX1 (G79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380558	NM_001257096.2(PAX1):c.244G>C (p.Gly82Arg)	PAX1 (G82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1433280	NM_001257096.2(PAX1):c.247C>T (p.His83Tyr)	PAX1 (H83Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177209	NM_001257096.2(PAX1):c.248A>G (p.His83Arg)	PAX1 (H83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396691	NM_001257096.2(PAX1):c.255C>T (p.Gly85=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946370	NM_001257096.2(PAX1):c.261G>A (p.Arg87=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543344	NM_001257096.2(PAX1):c.269C>T (p.Ala90Val)	PAX1 (A90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1938207	NM_001257096.2(PAX1):c.270C>T (p.Ala90=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182404	NM_001257096.2(PAX1):c.271G>T (p.Gly91Cys)	PAX1 (G91C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593423	NM_001257096.2(PAX1):c.273C>A (p.Gly91=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973826	NM_001257096.2(PAX1):c.275C>A (p.Pro92Gln)	PAX1 (P92Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643336	NM_001257096.2(PAX1):c.276G>T (p.Pro92=)	PAX1	Single nucleotide variant (synonymous variant)	PAX1-related disorder +1 more	GLikely benign
Select item 2378080	NM_001257096.2(PAX1):c.280G>C (p.Ala94Pro)	PAX1 (A94P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1483184	NM_001257096.2(PAX1):c.286+9C>T	PAX1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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