ClinVar for MedGen (Select 373280) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1319948	NM_002448.3(MSX1):c.519_525dup (p.Arg176Ter)	MSX1 (R176*)	Duplication (nonsense)	Orofacial cleft 5	GPathogenic
Select item 703022	NM_002448.3(MSX1):c.218C>T (p.Pro73Leu)	LOC129992137, MSX1 (P73L)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 1 +2 more	GBenign/Likely benign
Select item 225414	NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)	MSX1 (R157S)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 14885	NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)	MSX1 (P153Q)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GLikely benign
Select item 14884	NM_002448.3(MSX1):c.365G>A (p.Gly122Glu)	MSX1 (G122E)	Single nucleotide variant (missense variant)	Orofacial cleft 5	GPathogenic
Select item 14883	NM_002448.3(MSX1):c.251A>T (p.Glu84Val)	LOC129992137, MSX1 (E84V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GUncertain significance

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