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16 records found for search term Cldn11
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401922980CV2825056single nucleotide variantNM_005602.6(CLDN11):c.153G>T (p.Gly51=)not provided [RCV003434792]likely benign3170419219170419219Humanname
152102753CV1667319single nucleotide variantNM_005602.6(CLDN11):c.336C>T (p.Pro112=)not provided [RCV002214306]likely benign3170423272170423272Humanname
401927581CV2825058single nucleotide variantNM_005602.6(CLDN11):c.615C>G (p.Ala205=)not provided [RCV003439051]likely benign3170432747170432747Humanname
405852927CV3393355single nucleotide variantNM_005602.6(CLDN11):c.606G>A (p.Ala202=)not provided [RCV004546085]benign3170432738170432738Humanname
401963836CV2844877single nucleotide variantNM_005602.6(CLDN11):c.232G>A (p.Val78Met)Leukodystrophy, hypomyelinating, 22 [RCV003484454]uncertain significance3170423168170423168Human1name
405706829CV3225212single nucleotide variantNM_005602.6(CLDN11):c.179C>G (p.Thr60Arg)Leukodystrophy, hypomyelinating, 22 [RCV003990266]uncertain significance3170419245170419245Human1name
127273022CV1108676single nucleotide variantNM_005602.6(CLDN11):c.622T>C (p.Ter208Gln)Leukodystrophy, hypomyelinating, 22 [RCV001431513]pathogenic3170432754170432754Human1name
127273028CV1108677single nucleotide variantNM_005602.6(CLDN11):c.622T>G (p.Ter208Glu)Leukodystrophy, hypomyelinating, 22 [RCV001431515]pathogenic3170432754170432754Human1name
156304107CV2308569single nucleotide variantNM_005602.6(CLDN11):c.563A>G (p.Asn188Ser)not specified [RCV004166844]uncertain significance3170432695170432695Humanname
329366563CV2441712single nucleotide variantNM_005602.6(CLDN11):c.508G>A (p.Val170Met)not specified [RCV004259881]uncertain significance3170432640170432640Humanname
329390492CV2459291single nucleotide variantNM_005602.6(CLDN11):c.508G>C (p.Val170Leu)not specified [RCV004274718]uncertain significance3170432640170432640Humanname
401927578CV2825057single nucleotide variantNM_005602.6(CLDN11):c.601C>T (p.His201Tyr)not provided [RCV003439050]uncertain significance3170432733170432733Humanname
598228172CV3894598single nucleotide variantNM_005602.6(CLDN11):c.319C>G (p.Arg107Gly)not provided [RCV005257842]uncertain significance3170423255170423255Humanname
598242726CV3948431single nucleotide variantNM_005602.6(CLDN11):c.349T>C (p.Tyr117His)not specified [RCV005321790]uncertain significance3170423285170423285Humanname
598242731CV3948432single nucleotide variantNM_005602.6(CLDN11):c.581C>T (p.Ala194Val)not specified [RCV005321791]uncertain significance3170432713170432713Humanname
14978456CV677351deletionNM_005602.6(CLDN11):c.93_104del (p.Val32_Gly35del)Marfanoid habitus and intellectual disability [RCV000850417]uncertain significance3170419159170419170Human1name