"MSX1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050226	NM_002448.3(MSX1):c.-7G>T	LOC129992137, MSX1	Single nucleotide variant (5 prime UTR variant)	MSX1-related disorder	GLikely benign
Select item 800202	NM_002448.3(MSX1):c.151A>G (p.Lys51Glu)	LOC129992137, MSX1 (K51E)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +1 more	GBenign
Select item 2634175	NM_002448.3(MSX1):c.245C>T (p.Pro82Leu)	LOC129992137, MSX1 (P82L)	Single nucleotide variant (missense variant)	MSX1-related disorder	GUncertain significance
Select item 225414	NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)	MSX1 (R157S)	Single nucleotide variant (missense variant)	MSX1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2753327	NM_002448.3(MSX1):c.519T>C (p.Arg173=)	MSX1	Single nucleotide variant (synonymous variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +1 more	GLikely benign
Select item 3051849	NM_002448.3(MSX1):c.546G>A (p.Ala182=)	MSX1	Single nucleotide variant (synonymous variant)	MSX1-related disorder	GLikely benign
Select item 3061414	NM_002448.3(MSX1):c.547C>T (p.Gln183Ter)	MSX1 (Q183*)	Single nucleotide variant (nonsense)	MSX1-related disorder	GLikely pathogenic
Select item 461601	NM_002448.3(MSX1):c.561G>A (p.Leu187=)	MSX1	Single nucleotide variant (synonymous variant)	MSX1-related disorder +1 more	GBenign
Select item 1022700	NM_002448.3(MSX1):c.623C>G (p.Ser208Trp)	MSX1 (S208W)	Single nucleotide variant (missense variant)	MSX1-related disorder +1 more	GUncertain significance
Select item 14882	NM_002448.3(MSX1):c.623C>A (p.Ser208Ter)	MSX1 (S208*)	Single nucleotide variant (nonsense)	MSX1-related disorder	GPathogenic
Select item 2631265	NM_002448.3(MSX1):c.650A>G (p.Lys217Arg)	MSX1 (K217R)	Single nucleotide variant (missense variant)	MSX1-related disorder	GUncertain significance