"PreventionGenetics, part of Exact Sciences"[submitter] AND "FOXC1"[ge - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029215	NM_001453.3(FOXC1):c.-437C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
Select item 3031218	NM_001453.3(FOXC1):c.-435C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
Select item 3031842	NM_001453.3(FOXC1):c.-433C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
Select item 1673473	NM_001453.3(FOXC1):c.9G>T (p.Ala3=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +1 more	GLikely benign
Select item 193208	NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 469652	NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)	FOXC1	Microsatellite (inframe_deletion)	not provided +3 more	GBenign/Likely benign
Select item 2635518	NM_001453.3(FOXC1):c.104_105delinsT (p.Gly35fs)	FOXC1 (G35fs)	Indel (frameshift variant)	FOXC1-related disorder	GLikely pathogenic
Select item 1942057	NM_001453.3(FOXC1):c.105C>T (p.Gly35=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +1 more	GLikely benign
Select item 286637	NM_001453.3(FOXC1):c.114C>T (p.Thr38=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder +2 more	GLikely benign
Select item 716557	NM_001453.3(FOXC1):c.333C>T (p.Arg111=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder +1 more	GBenign
Select item 537389	NM_001453.3(FOXC1):c.380G>A (p.Arg127His)	FOXC1 (R127H)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GPathogenic
Select item 2629736	NM_001453.3(FOXC1):c.404G>A (p.Cys135Tyr)	FOXC1 (C135Y)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GLikely pathogenic
Select item 497446	NM_001453.3(FOXC1):c.474C>T (p.Ser158=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 167086	NM_001453.3(FOXC1):c.502C>T (p.Leu168=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +3 more	GBenign/Likely benign
Select item 2633359	NM_001453.3(FOXC1):c.503T>C (p.Leu168Pro)	FOXC1 (L168P)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 2197093	NM_001453.3(FOXC1):c.639G>T (p.Ala213=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +1 more	GBenign/Likely benign
Select item 2636537	NM_001453.3(FOXC1):c.661G>C (p.Val221Leu)	FOXC1 (V221L)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 2085484	NM_001453.3(FOXC1):c.693T>C (p.Gly231=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +1 more	GLikely benign
Select item 3044944	NM_001453.3(FOXC1):c.861T>C (p.Gly287=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder	GLikely benign
Select item 3042031	NM_001453.3(FOXC1):c.892_898del (p.Ser298fs)	FOXC1 (S298fs)	Deletion (frameshift variant)	FOXC1-related disorder	GLikely pathogenic
Select item 286641	NM_001453.3(FOXC1):c.1050C>T (p.Leu350=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder +2 more	GBenign/Likely benign
Select item 193213	NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup)	FOXC1	Microsatellite (inframe_insertion)	not specified +2 more	GBenign
Select item 810726	NM_001453.3(FOXC1):c.1124GCG[5] (p.Gly380del)	FOXC1 (G380del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3029141	NM_001453.3(FOXC1):c.1140C>G (p.Gly380=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder	GLikely benign
Select item 3042308	NM_001453.3(FOXC1):c.1142_1156del (p.Ala381_Gly385del)	FOXC1	Deletion (inframe deletion)	FOXC1-related disorder	GLikely benign
Select item 2634271	NM_001453.3(FOXC1):c.1244C>T (p.Ala415Val)	FOXC1 (A415V)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 2632922	NM_001453.3(FOXC1):c.1309A>G (p.Thr437Ala)	FOXC1 (T437A)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 2629939	NM_001453.3(FOXC1):c.1313G>T (p.Ser438Ile)	FOXC1 (S438I)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 1618220	NM_001453.3(FOXC1):c.1338CGG[11] (p.Gly454_Gly456dup)	FOXC1	Microsatellite (inframe_insertion)	Axenfeld-Rieger syndrome type 3 +1 more	GLikely benign
Select item 469649	NM_001453.3(FOXC1):c.1338CGG[10] (p.Gly455_Gly456dup)	FOXC1	Microsatellite (inframe_insertion)	not specified +2 more	GLikely benign
Select item 93747	NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup)	FOXC1	Microsatellite (inframe_insertion)	Anterior segment dysgenesis 3 +2 more	GBenign
Select item 1624657	NM_001453.3(FOXC1):c.1338CGG[6] (p.Gly455_Gly456del)	FOXC1	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 598622	NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del)	FOXC1	Microsatellite (inframe_deletion)	FOXC1-related disorder +3 more	GBenign/Likely benign
Select item 1302331	NM_001453.3(FOXC1):c.1464GGC[7] (p.Ala495dup)	FOXC1	Microsatellite (inframe_insertion)	FOXC1-related disorder +2 more	GUncertain significance
Select item 3031777	NM_001453.3(FOXC1):c.1495G>A (p.Gly499Ser)	FOXC1 (G499S)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 3043884	NM_001453.3(FOXC1):c.1599C>T (p.Phe533=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder	GLikely benign

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Items: 36