ClinVar for Gene (Select 5075) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357711	NM_001257096.2(PAX1):c.501dup (p.Ser168fs)	PAX1 (S168fs)	Duplication (frameshift variant)	PAX1-related disorder	GLikely pathogenic
Select item 3304464	NM_001257096.2(PAX1):c.1128C>A (p.His376Gln)	PAX1 (H376Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3208970	NM_001257096.2(PAX1):c.787A>T (p.Thr263Ser)	PAX1 (T263S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208969	NM_001257096.2(PAX1):c.322G>A (p.Val108Met)	PAX1 (V108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3208966	NM_001257096.2(PAX1):c.1344C>T (p.His448=)	PAX1 (T445M)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3208965	NM_001257096.2(PAX1):c.1226C>G (p.Ala409Gly)	PAX1 (A409G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208964	NM_001257096.2(PAX1):c.1207C>T (p.Pro403Ser)	PAX1 (P403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208963	NM_001257096.2(PAX1):c.1207C>A (p.Pro403Thr)	PAX1 (P403T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3028981	NM_001257096.2(PAX1):c.*235G>A	PAX1	Single nucleotide variant (3 prime UTR variant +1 more)	PAX1-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3010281	NM_001257096.2(PAX1):c.918G>A (p.Gly306=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004531	NM_001257096.2(PAX1):c.201_202del (p.Gln68fs)	PAX1 (Q68fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3001382	NM_001257096.2(PAX1):c.*130C>T	PAX1	Single nucleotide variant (3 prime UTR variant +1 more)	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 2997243	NM_001257096.2(PAX1):c.1282+10G>T	PAX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995060	NM_001257096.2(PAX1):c.*79A>T	PAX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2992091	NM_001257096.2(PAX1):c.294G>C (p.Thr98=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981473	NM_001257096.2(PAX1):c.153G>A (p.Arg51=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975438	NM_001257096.2(PAX1):c.*49G>A	PAX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2974549	NM_001257096.2(PAX1):c.805A>T (p.Ser269Cys)	PAX1 (S269C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966115	NM_001257096.2(PAX1):c.287-5C>G	PAX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965253	NM_001257096.2(PAX1):c.1104C>T (p.Cys368=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965225	NM_001257096.2(PAX1):c.459C>T (p.Arg153=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964880	NM_001257096.2(PAX1):c.1010T>A (p.Val337Glu)	PAX1 (V337E)	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 2959561	NM_001257096.2(PAX1):c.72A>C (p.Ala24=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959423	NM_001257096.2(PAX1):c.1282+14G>A	PAX1	Single nucleotide variant (intron variant)	not provided	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 2905590	NM_001257096.2(PAX1):c.561A>T (p.Gly187=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899967	NM_001257096.2(PAX1):c.1113G>A (p.Pro371=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886677	NM_001257096.2(PAX1):c.1116C>G (p.Ala372=)	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 2886357	NM_001257096.2(PAX1):c.1060-9T>C	PAX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884765	NM_001257096.2(PAX1):c.78T>C (p.Pro26=)	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 2878701	NM_001257096.2(PAX1):c.1170C>T (p.Gly390=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878105	NM_001257096.2(PAX1):c.1029T>A (p.Pro343=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875186	NM_001257096.2(PAX1):c.354C>T (p.Ala118=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863425	NM_001257096.2(PAX1):c.120C>T (p.Val40=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862849	NM_001257096.2(PAX1):c.483G>A (p.Leu161=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857970	NM_001257096.2(PAX1):c.1215G>T (p.Gly405=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842544	NM_001257096.2(PAX1):c.*37G>T	PAX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2837230	NM_001257096.2(PAX1):c.917-9C>T	PAX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835505	NM_001257096.2(PAX1):c.735G>A (p.Thr245=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826767	NM_001257096.2(PAX1):c.790G>A (p.Gly264Ser)	PAX1 (G264S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818810	NM_001257096.2(PAX1):c.972C>T (p.Ala324=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809608	NM_001257096.2(PAX1):c.1083G>A (p.Val361=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2807430	NM_001257096.2(PAX1):c.1038G>A (p.Glu346=)	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 2805382	NM_001257096.2(PAX1):c.287-17G>A	PAX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803234	NM_001257096.2(PAX1):c.450C>T (p.Ile150=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794507	NM_001257096.2(PAX1):c.*25C>A	PAX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2794383	NM_001257096.2(PAX1):c.231C>T (p.Ser77=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2789787	NM_001257096.2(PAX1):c.917-15CT[2]	PAX1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2789531	NM_001257096.2(PAX1):c.939C>T (p.Gly313=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787323	NM_001257096.2(PAX1):c.849G>A (p.Pro283=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785071	NM_001257096.2(PAX1):c.*112G>A	PAX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2771424	NM_001257096.2(PAX1):c.846C>A (p.Ile282=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756073	NM_001257096.2(PAX1):c.864G>T (p.Ser288=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748551	NM_001257096.2(PAX1):c.747C>T (p.Asn249=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748518	NM_001257096.2(PAX1):c.579C>T (p.Ala193=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748304	NM_001257096.2(PAX1):c.987G>C (p.Thr329=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746813	NM_001257096.2(PAX1):c.1233T>C (p.His411=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744161	NM_001257096.2(PAX1):c.822G>T (p.Pro274=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716634	NM_001257096.2(PAX1):c.1248G>T (p.Ala416=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695611	NM_001257096.2(PAX1):c.756C>T (p.Tyr252=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2584919	NM_001257096.2(PAX1):c.395G>A (p.Arg132Gln)	PAX1 (R132Q)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 2	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2548199	NM_001257096.2(PAX1):c.797A>G (p.Lys266Arg)	PAX1 (K266R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2529858	NM_001257096.2(PAX1):c.983G>C (p.Arg328Pro)	PAX1 (R328P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525635	NM_001257096.2(PAX1):c.902T>G (p.Phe301Cys)	PAX1 (F301C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470385	NM_001257096.2(PAX1):c.805A>G (p.Ser269Gly)	PAX1 (S269G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434579	NM_001257096.2(PAX1):c.1117T>G (p.Ser373Ala)	PAX1 (S373A)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 2	GUncertain significance
Select item 2430416	NM_001257096.2(PAX1):c.*152A>C	PAX1 (S506R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2425521	NC_000020.10:g.(?_21686351)_(21695441_?)dup	PAX1	Duplication	not provided	GUncertain significance
Select item 2421996	NM_001257096.2(PAX1):c.384G>A (p.Gln128=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420144	NM_001257096.2(PAX1):c.*11C>T	PAX1 (P459S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2413548	NM_001257096.2(PAX1):c.794C>T (p.Ala265Val)	PAX1 (A265V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409975	NM_001257096.2(PAX1):c.870C>G (p.His290Gln)	PAX1 (H290Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407855	NM_001257096.2(PAX1):c.695G>A (p.Gly232Glu)	PAX1 (G232E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2378080	NM_001257096.2(PAX1):c.280G>C (p.Ala94Pro)	PAX1 (A94P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334538	NM_001257096.2(PAX1):c.689A>G (p.Gln230Arg)	PAX1 (Q230R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309560	NM_001257096.2(PAX1):c.1219G>C (p.Gly407Arg)	PAX1 (G407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308968	NM_001257096.2(PAX1):c.817G>A (p.Val273Ile)	PAX1 (V273I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2278866	NM_001257096.2(PAX1):c.*65G>A	PAX1 (A477T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2260958	NM_001257096.2(PAX1):c.137G>C (p.Gly46Ala)	PAX1 (G46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250148	NM_001257096.2(PAX1):c.44C>G (p.Ser15Cys)	PAX1 (S15C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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