"Baylor Genetics"[submitter] AND "RNF135"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032948	NM_032322.4(RNF135):c.575C>T (p.Thr192Ile)	RNF135 (T192I)	Single nucleotide variant (missense variant +1 more)	Chromosome 17q11.2 deletion syndrome, 1.4Mb	GUncertain significance
Select item 625731	GRCh37/hg19 17q11.2(chr17:29111368-30183819)	ADAP2, ATAD5 +10 more	Copy number gain	not provided	GPathogenic
Select item 374370	Single allele	ADAP2, ATAD5 +10 more	Duplication	Intellectual disability +2 more	GLikely pathogenic

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