"FOXN1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379390	NM_001369369.1(FOXN1):c.124-20G>A	FOXN1	Single nucleotide variant (intron variant)	FOXN1-related disorder +2 more	GBenign
Select item 1111495	NM_001369369.1(FOXN1):c.183C>T (p.Pro61=)	FOXN1	Single nucleotide variant (synonymous variant)	FOXN1-related disorder +1 more	GLikely benign
Select item 322416	NM_001369369.1(FOXN1):c.279C>G (p.Leu93=)	FOXN1	Single nucleotide variant (synonymous variant)	FOXN1-related disorder +1 more	GBenign
Select item 712831	NM_001369369.1(FOXN1):c.362C>T (p.Ala121Val)	FOXN1 (A121V)	Single nucleotide variant (missense variant)	FOXN1-related disorder +1 more	GBenign/Likely benign
Select item 2630881	NM_001369369.1(FOXN1):c.437G>A (p.Gly146Glu)	FOXN1 (G146E)	Single nucleotide variant (missense variant)	FOXN1-related disorder	GUncertain significance
Select item 1093038	NM_001369369.1(FOXN1):c.492C>T (p.Asp164=)	FOXN1	Single nucleotide variant (synonymous variant)	FOXN1-related disorder +1 more	GLikely benign
Select item 392577	NM_001369369.1(FOXN1):c.573T>C (p.His191=)	FOXN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1591586	NM_001369369.1(FOXN1):c.735C>T (p.Tyr245=)	FOXN1	Single nucleotide variant (synonymous variant)	FOXN1-related disorder +1 more	GBenign/Likely benign
Select item 468554	NM_001369369.1(FOXN1):c.930A>G (p.Thr310=)	FOXN1	Single nucleotide variant (synonymous variant)	FOXN1-related disorder +1 more	GLikely benign
Select item 2636000	NM_001369369.1(FOXN1):c.1190T>G (p.Leu397Arg)	FOXN1 (L397R)	Single nucleotide variant (missense variant)	FOXN1-related disorder	GUncertain significance
Select item 322431	NM_001369369.1(FOXN1):c.1443G>T (p.Leu481=)	FOXN1	Single nucleotide variant (synonymous variant)	FOXN1-related disorder +1 more	GBenign/Likely benign
Select item 888886	NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=)	FOXN1	Single nucleotide variant (synonymous variant)	FOXN1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 536430	NM_001369369.1(FOXN1):c.1697C>T (p.Pro566Leu)	FOXN1 (P566L)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +1 more	GUncertain significance
Select item 2628400	NM_001369369.1(FOXN1):c.1700C>A (p.Thr567Lys)	FOXN1 (T567K)	Single nucleotide variant (missense variant)	FOXN1-related disorder	GUncertain significance
Select item 654443	NM_001369369.1(FOXN1):c.1709C>T (p.Ser570Leu)	FOXN1 (S570L)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +1 more	GUncertain significance
Select item 1026952	NM_001369369.1(FOXN1):c.1855G>C (p.Ala619Pro)	FOXN1 (A619P)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +2 more	GUncertain significance