"Baylor Genetics"[submitter] AND "TWIST2"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208078	NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln)	TWIST2 (E75Q)	Single nucleotide variant (missense variant)	Barber-Say syndrome	GPathogenic
Select item 625781	GRCh37/hg19 2q37.3(chr2:239071623-243048760)	TWIST2, ANKMY1 +43 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 625780	GRCh37/hg19 2q37.3(chr2:238795602-242918203)	SCLY, SEPTIN2 +48 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	OR6B2, PASK +56 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic

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