"GeneDx"[submitter] AND "FOXN1"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1706676	NM_001369369.1(FOXN1):c.-14-163TC[22]	FOXN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1242877	NM_001369369.1(FOXN1):c.-14-163TC[23]	FOXN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1266250	NM_001369369.1(FOXN1):c.-14-163TC[12]	FOXN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1241419	NM_001369369.1(FOXN1):c.-14-163TC[16]	FOXN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1206768	NM_001369369.1(FOXN1):c.-14-69G>T	FOXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216140	NM_001369369.1(FOXN1):c.-14-45del	FOXN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1182314	NM_001369369.1(FOXN1):c.-14-45A>C	FOXN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1204197	NM_001369369.1(FOXN1):c.-14-43T>C	FOXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 468555	NM_001369369.1(FOXN1):c.9G>A (p.Ser3=)	FOXN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 385949	NM_001369369.1(FOXN1):c.123+11G>A	FOXN1	Single nucleotide variant (intron variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +2 more	GBenign/Likely benign
Select item 379390	NM_001369369.1(FOXN1):c.124-20G>A	FOXN1	Single nucleotide variant (intron variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +2 more	GBenign
Select item 322414	NM_001369369.1(FOXN1):c.205C>T (p.Arg69Cys)	FOXN1 (R69C)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GBenign FDA Recognized database
Select item 468552	NM_001369369.1(FOXN1):c.321C>T (p.Ala107=)	FOXN1	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 322419	NM_001369369.1(FOXN1):c.546C>T (p.Asn182=)	FOXN1	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 392577	NM_001369369.1(FOXN1):c.573T>C (p.His191=)	FOXN1	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +1 more	GLikely benign
Select item 1296568	NM_001369369.1(FOXN1):c.588+166C>T	FOXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194378	NM_001369369.1(FOXN1):c.589-110A>T	FOXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321698	NM_001369369.1(FOXN1):c.699+22C>A	FOXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190990	NM_001369369.1(FOXN1):c.699+156C>T	FOXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707071	NM_001369369.1(FOXN1):c.699+184T>G	FOXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225027	NM_001369369.1(FOXN1):c.700-301G>A	FOXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288874	NM_001369369.1(FOXN1):c.700-141T>G	FOXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277256	NM_001369369.1(FOXN1):c.700-132G>A	FOXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180074	NM_001369369.1(FOXN1):c.700-114G>A	FOXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 322424	NM_001369369.1(FOXN1):c.714T>C (p.Gly238=)	FOXN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 379409	NM_001369369.1(FOXN1):c.830+19A>G	FOXN1	Single nucleotide variant (intron variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +2 more	GBenign
Select item 1239937	NM_001369369.1(FOXN1):c.831-30C>T	FOXN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1215976	NM_001369369.1(FOXN1):c.831-29G>T	FOXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 322425	NM_001369369.1(FOXN1):c.852T>C (p.Leu284=)	FOXN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 422945	NM_001369369.1(FOXN1):c.907del (p.Glu303fs)	FOXN1 (E303fs)	Deletion (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenic FDA Recognized database
Select item 1274314	NM_001369369.1(FOXN1):c.928-280C>G	FOXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248393	NM_001369369.1(FOXN1):c.928-197T>C	FOXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275635	NM_001369369.1(FOXN1):c.928-178G>C	FOXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392379	NM_001369369.1(FOXN1):c.962A>G (p.His321Arg)	FOXN1 (H321R)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenic FDA Recognized database
Select item 422253	NM_001369369.1(FOXN1):c.1135+1_1135+2delinsAG	FOXN1	Indel (splice donor variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +1 more	GLikely pathogenic
Select item 322427	NM_001369369.1(FOXN1):c.1135+8C>T	FOXN1	Single nucleotide variant (intron variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +2 more	GBenign
Select item 1240559	NM_001369369.1(FOXN1):c.1135+62A>G	FOXN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 421435	NM_001369369.1(FOXN1):c.1168_1169del (p.Glu390fs)	FOXN1 (E390fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 418218	NM_001369369.1(FOXN1):c.1201_1216del (p.Pro401fs)	FOXN1 (P401fs)	Deletion (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GPathogenic FDA Recognized database
Select item 426530	NM_001369369.1(FOXN1):c.1206del (p.Leu404fs)	FOXN1 (L404fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 390081	NM_001369369.1(FOXN1):c.1215C>T (p.Ser405=)	FOXN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 322430	NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser)	FOXN1 (P430S)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GBenign FDA Recognized database
Select item 423100	NM_001369369.1(FOXN1):c.1315del (p.Leu439fs)	FOXN1 (L439fs)	Deletion (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenic FDA Recognized database
Select item 390082	NM_001369369.1(FOXN1):c.1425G>A (p.Pro475=)	FOXN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3365690	NM_001369369.1(FOXN1):c.1535C>A (p.Ala512Asp)	FOXN1 (A512D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 322433	NM_001369369.1(FOXN1):c.1556T>A (p.Leu519Gln)	FOXN1 (L519Q)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GBenign FDA Recognized database
Select item 1175460	NM_001369369.1(FOXN1):c.1628-212C>T	FOXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 322436	NM_001369369.1(FOXN1):c.1795G>C (p.Ala599Pro)	FOXN1 (A599P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 322441	NM_001369369.1(FOXN1):c.*254G>A	FOXN1	Single nucleotide variant (3 prime UTR variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy +1 more	GBenign
Select item 3362112	NM_001369369.1(FOXN1):c.943_957del (p.Trp315_Val319del)	FOXN1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3362074	NM_001369369.1(FOXN1):c.1763C>A (p.Thr588Lys)	FOXN1 (T588K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 51