Related gene-specific medical variations for Gene (Select 4488) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433809	NM_002449.5(MSX2):c.745A>C (p.Ile249Leu)	MSX2 (I249L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1340495	GRCh37/hg19 5q35.2(chr5:174147094-174200503)x1	MSX2	Copy number loss	not provided	GUncertain significance
Select item 980753	GRCh37/hg19 5q35.2(chr5:173830823-174344055)x3	MSX2	Copy number gain	not provided	GUncertain significance
Select item 931411	NM_002449.5(MSX2):c.793C>T (p.His265Tyr)	MSX2 (H265Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis 2	GUncertain significance
Select item 931029	NM_002449.5(MSX2):c.698dup (p.Ser234fs)	MSX2 (S234fs)	Duplication (3 prime UTR variant +1 more)	Craniosynostosis 2	GUncertain significance
Select item 563124	GRCh37/hg19 5q35.2(chr5:174070065-174601039)x3	MSX2	Copy number gain	not provided	GUncertain significance

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