View unique variants in gene RET

Information The variants shown are described using the NM_020975.4 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 c.73+9278G>A p.(=) - - - - r.(=) - 10 Unknown - g.43582057G>A - - - RET_000065 MSCV_0015785 - - ; clinvar; - - - -
./. 1 c.225G>A p.(=) - - - - r.(=) - 10 Unknown - g.43596058G>A - - - RET_000012 MSCV_0015786 - - ; clinvar; - - - -
./. 1 c.262A>G p.(Ile88Val) - - - - r.(?) - 10 Unknown - g.43596095A>G - - - RET_000013 MSCV_0015787 - - ; clinvar; - - - -
./. 1 c.308A>G p.(His103Arg) - - - - r.(?) - 10 Unknown - g.43596141A>G - - - RET_000014 MSCV_0015788 - - ; clinvar; - - - -
./. 1 c.335G>A p.(Arg112His) - - - - r.(?) - 10 Unknown - g.43596168G>A - - - RET_000015 MSCV_0015789 - - ; clinvar; - - - -
./. 1 c.337+12G>A p.(=) - - - - r.(=) - 10 Unknown - g.43596182G>A - - - RET_000016 MSCV_0015790 - - ; clinvar; - - - -
./. 1 c.337+29G>A p.(=) - - - - r.(=) - 10 Unknown - g.43596199G>A - - - RET_000017 MSCV_0015791 - - ; clinvar; - - - -
./. 1 c.337+34C>T p.(=) - - - - r.(=) - 10 Unknown - g.43596204C>T - - - RET_000018 MSCV_0015792 - - ; clinvar; - - - -
./. 1 c.509C>T p.(Thr170Ile) - - - - r.(?) - 10 Unknown - g.43597961C>T - - - RET_000019 MSCV_0015793 - - ; clinvar; - - - -
./. 1 c.604G>A p.(Val202Met) - - - - r.(?) - 10 Unknown - g.43598056G>A - - - RET_000020 MSCV_0015794 - - ; clinvar; - - - -
./. 1 c.667G>A p.(Val223Met) - - - - r.(?) - 10 Unknown - g.43600441G>A - - - RET_000021 MSCV_0015795 - - ; clinvar; - - - -
./. 1 c.868-18G>A p.(=) - - - - r.(=) - 10 Unknown - g.43601806G>A - - - RET_000022 MSCV_0015796 - - ; clinvar; - - - -
./. 1 c.972G>C p.(Trp324Cys) - - - - r.(?) - 10 Unknown - g.43601928G>C - - - RET_000023 MSCV_0015797 - - ; clinvar; - - - -
./. 1 c.1017G>A p.(=) - - - - r.(=) - 10 Unknown - g.43601973G>A - - - RET_000024 MSCV_0015798 - - ; clinvar; - - - -
./. 1 c.1063+9G>A p.(=) - - - - r.(=) - 10 Unknown - g.43602028G>A - - - RET_000025 MSCV_0015799 - - ; clinvar; - - - -
./. 1 c.1095G>A p.(=) - - - - r.(=) - 10 Unknown - g.43604510G>A - - - RET_000026 MSCV_0015800 - - ; clinvar; - - - -
./. 1 c.1150C>G p.(Pro384Ala) - - - - r.(?) - 10 Unknown - g.43604565C>G - - - RET_000027 MSCV_0015801 - - ; clinvar; - - - -
./. 1 c.1182C>T p.(=) - - - - r.(=) - 10 Unknown - g.43604597C>T - - - RET_000028 MSCV_0015802 - - ; clinvar; - - - -
./. 1 c.1187C>T p.(Ser396Leu) - - - - r.(?) - 10 Unknown - g.43604602C>T - - - RET_000029 MSCV_0015803 - - ; clinvar; - - - -
./. 1 c.1197G>A p.(=) - - - - r.(=) - 10 Unknown - g.43604612G>A - - - RET_000030 MSCV_0015804 - - ; clinvar; - - - -
./. 1 c.1264-4C>T p.? - - - - r.spl? - 10 Unknown - g.43606651C>T - - - RET_000031 MSCV_0015805 - - ; clinvar; - - - -
./. 1 c.1437C>T p.(=) - - - - r.(=) - 10 Unknown - g.43606828C>T - - - RET_000032 MSCV_0015806 - - ; clinvar; - - - -
./. 1 c.1438G>A p.(Glu480Lys) - - - - r.(?) - 10 Unknown - g.43606829G>A - - - RET_000033 MSCV_0015807 - - ; clinvar; - - - -
./. 1 c.1522+35C>T p.(=) - - - - r.(=) - 10 Unknown - g.43606948C>T - - - RET_000034 MSCV_0015808 - - ; clinvar; - - - -
./. 1 c.1530C>T p.(=) - - - - r.(=) - 10 Unknown - g.43607554C>T - - - RET_000035 MSCV_0015809 - - ; clinvar; - - - -
./. 1 c.1648+24G>A p.(=) - - - - r.(=) - 10 Unknown - g.43607696G>A - - - RET_000036 MSCV_0015810 - - ; clinvar; - - - -
./. 1 c.1879+13C>T p.(=) - - - - r.(=) - 10 Unknown - g.43609136C>T - - - RET_000066 MSCV_0015811 - - ; clinvar; - - - -
./. 1 c.1879+17C>T p.(=) - - - - r.(=) - 10 Unknown - g.43609140C>T - - - RET_000060 MSCV_0015812 - - ; clinvar; - - - -
./. 1 c.1894G>A p.(Glu632Lys) - - - - r.(?) - 10 Unknown - g.43609942G>A - - - RET_000061 MSCV_0015813 - - ; clinvar; - - - -
./. 1 c.1915G>A p.(Ala639Thr) - - - - r.(?) - 10 Unknown - g.43609963G>A - - - RET_000062 MSCV_0015814 - - ; clinvar; - - - -
./. 1 c.2110G>T p.(Val704Phe) - - - - r.(?) - 10 Unknown - g.43610158G>T - - - RET_000063 MSCV_0015815 - - ; clinvar; - - - -
./. 1 c.2116G>A p.(Val706Met) - - - - r.(?) - 10 Unknown - g.43610164G>A - - - RET_000064 MSCV_0015816 - - ; clinvar; - - - -
./. 1 c.2136+15G>A p.(=) - - - - r.(=) - 10 Unknown - g.43610199G>A - - - RET_000044 MSCV_0015817 - - ; clinvar; - - - -
./. 1 c.2225C>T p.(Thr742Met) - - - - r.(?) - 10 Unknown - g.43612120C>T - - - RET_000045 MSCV_0015818 - - ; clinvar; - - - -
./. 1 c.2226G>A p.(=) - - - - r.(=) - 10 Unknown - g.43612121G>A - - - RET_000046 MSCV_0015819 - - ; clinvar; - - - -
./. 1 c.2298G>A p.(=) - - - - r.(=) - 10 Unknown - g.43613834G>A - - - RET_000047 MSCV_0015820 - - ; clinvar; - - - -
./. 1 c.2304G>T p.(Glu768Asp) - - - - r.(?) - 10 Unknown - g.43613840G>T - - - RET_000048 MSCV_0015821 - - ; clinvar; - - - -
./. 1 c.2348A>C p.(Asn783Thr) - - - - r.(?) - 10 Unknown - g.43613884A>C - - - RET_000049 MSCV_0015822 - - ; clinvar; - - - -
./. 1 c.2393-14C>T p.(=) - - - - r.(=) - 10 Unknown - g.43614965C>T - - - RET_000050 MSCV_0015823 - - ; clinvar; - - - -
./. 1 c.2409C>T p.(=) - - - - r.(=) - 10 Unknown - g.43614995C>T - - - RET_000051 MSCV_0015824 - - ; clinvar; - - - -
+/+ 1 c.2410G>A p.(Val804Met) missense_variant - 14/19 probably_damaging(1) r.(?) deleterious(0.03) 10 Unknown subst g.43614996G>A - 5.360 - RET_000001 MSCV_0000191 rs79658334 - ; clinvar; 11589684;11932300;3697657;12694233;15741265;11788682;8797874;7784092 - - -
+/+ 1 c.2410G>C p.(Val804Leu) missense_variant - 14/19 probably_damaging(0.999) r.(?) deleterious(0.02) 10 Unknown subst g.43614996G>C - 5.360 - RET_000002 MSCV_0000193 rs79658334 - ; clinvar; 11589684;11932300;3697657;12694233;15741265;11788682;8797874;7784092 - - -
+/+ 1 c.2410G>T p.(Val804Leu) missense_variant - 14/19 probably_damaging(0.999) r.(?) deleterious(0.02) 10 Unknown subst g.43614996G>T - 5.360 - RET_000003 MSCV_0000194 rs79658334 - ; clinvar; 11589684;11932300;3697657;12694233;15741265;11788682;8797874;7784092 - - -
./. 1 c.2449C>T p.(Arg817Cys) - - - - r.(?) - 10 Unknown - g.43615035C>T - - - RET_000052 MSCV_0015825 - - ; clinvar; - - - -
./. 1 c.2477A>C p.(Tyr826Ser) - - - - r.(?) - 10 Unknown - g.43615063A>C - - - RET_000053 MSCV_0015826 - - ; clinvar; - - - -
./. 1 c.2488G>A p.(Gly830Arg) - - - - r.(?) - 10 Unknown - g.43615074G>A - - - RET_000054 MSCV_0015827 - - ; clinvar; - - - -
./. 1 c.2531G>T p.(Arg844Leu) - - - - r.(?) - 10 Unknown - g.43615117G>T - - - RET_000055 MSCV_0015828 - - ; clinvar; - - - -
./. 1 c.2607+4C>T p.? - - - - r.spl? - 10 Unknown - g.43615197C>T - - - RET_000056 MSCV_0015829 - - ; clinvar; - - - -
+/+ 1 c.2647_2648delinsTT p.(Ala883Phe) - - - - r.(?) - 10 Unknown delins g.43615568_43615569delinsTT - - - RET_000004 MSCV_0000195 rs377767429 - ; clinvar; 9294615 - - -
+/+, ./. 2 c.2711C>G p.(Ser904Cys) missense_variant - 15/19 probably_damaging(0.999) r.(?) -, deleterious(0.01) 10 Unknown subst g.43615632C>G - 5.580 - RET_000005 MSCV_0000197 rs267607011 - ; clinvar; 11788682;17895320 - - -
+/+ 1 c.2711C>T p.(Ser904Phe) missense_variant - 15/19 probably_damaging(1) r.(?) deleterious(0) 10 Unknown subst g.43615632C>T - 5.580 - RET_000006 MSCV_0000199 rs267607011 - ; clinvar; 11788682;17895320 - - -
+/+ 1 c.2753T>C p.(Met918Thr) missense_variant - 16/19 probably_damaging(1) r.(?) deleterious(0) 10 Unknown subst g.43617416T>C - 5.430 - RET_000007 MSCV_0000200 rs74799832 - ; clinvar; 1 more item - - -
./. 1 c.2875C>T p.(Arg959Trp) - - - - r.(?) - 10 Unknown - g.43619192C>T - - - RET_000057 MSCV_0015831 - - ; clinvar; - - - -
./. 1 c.2982A>C p.(Lys994Asn) - - - - r.(?) - 10 Unknown - g.43620373A>C - - - RET_000058 MSCV_0015832 - - ; clinvar; - - - -
./. 1 c.3040-11C>G p.(=) - - - - r.(=) - 10 Unknown - g.43622012C>G - - - RET_000059 MSCV_0015833 - - ; clinvar; - - - -
./. 1 c.3057G>A p.(=) - - - - r.(=) - 10 Unknown - g.43622040G>A - - - RET_000037 MSCV_0015834 - - ; clinvar; - - - -
./. 1 c.3116C>T p.(Pro1039Leu) - - - - r.(?) - 10 Unknown - g.43622099C>T - - - RET_000038 MSCV_0015835 - - ; clinvar; - - - -
./. 1 c.3142C>G p.(Leu1048Val) - - - - r.(?) - 10 Unknown - g.43622125C>G - - - RET_000039 MSCV_0015836 - - ; clinvar; - - - -
./. 1 c.3185A>G p.(Tyr1062Cys) - - - - r.(?) - 10 Unknown - g.43622168A>G - - - RET_000040 MSCV_0015837 - - ; clinvar; - - - -
./. 1 c.3188-9C>T p.(=) - - - - r.(=) - 10 Unknown - g.43623551C>T - - - RET_000041 MSCV_0015838 - - ; clinvar; - - - -
./. 1 c.3206G>C p.(Trp1069Ser) - - - - r.(?) - 10 Unknown - g.43623578G>C - - - RET_000042 MSCV_0015839 - - ; clinvar; - - - -
./. 1 c.3243T>C p.(=) - - - - r.(=) - 10 Unknown - g.43623615T>C - - - RET_000043 MSCV_0015840 - - ; clinvar; - - - -
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