ClinVar for MedGen (Select 1726802) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17035471.	GRCh37/hg19 17q11.2(chr17:28993036-30412788) GRCh37: Chr17:28993036-30412788	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6		Neurofibromatosis, type 1, Chromosome 17q11.2 deletion syndrome, 1.4Mb	Pathogenic	no assertion criteria provided
Select item 10329482.	NM_032322.4(RNF135):c.575C>T (p.Thr192Ile) GRCh37: Chr17:29315020 GRCh38: Chr17:30988002	RNF135	T192I	Chromosome 17q11.2 deletion syndrome, 1.4Mb	Uncertain significance (Nov 8, 2018)	criteria provided, single submitter
Select item 6664413.	GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1 GRCh37: Chr17:28941066-30326958	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6		Chromosome 17q11.2 deletion syndrome, 1.4Mb	Pathogenic (Jan 1, 2019)	criteria provided, single submitter

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