Related gene-specific medical variations for Gene (Select 2296) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362572	NM_001453.3(FOXC1):c.240_284del (p.Tyr81_Pro95del)	FOXC1, LOC129995601	Deletion	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 3360489	NM_001453.3(FOXC1):c.1048C>T (p.Leu350Phe)	FOXC1 (L350F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360488	NM_001453.3(FOXC1):c.883C>T (p.Pro295Ser)	FOXC1 (P295S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347889	NM_001453.3(FOXC1):c.284C>G (p.Pro95Arg)	FOXC1, LOC129995601 (P95R)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 3246020	NC_000006.11:g.(?_1610661)_(1611805_?)del	FOXC1	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3246019	NC_000006.11:g.(?_1606319)_(1611558_?)del	FOXC1	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3236698	NM_001453.3(FOXC1):c.235C>A (p.Pro79Thr)	FOXC1, LOC129995601 (P79T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GPathogenic
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 3031218	NM_001453.3(FOXC1):c.-435C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
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 3009097	NM_001453.3(FOXC1):c.246C>T (p.Ser82=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2858932	NM_001453.3(FOXC1):c.311T>C (p.Ile104Thr)	FOXC1, LOC129995601 (I104T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2808326	NM_001453.3(FOXC1):c.281C>T (p.Ala94Val)	FOXC1, LOC129995601 (A94V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2768561	NM_001453.3(FOXC1):c.325A>G (p.Met109Val)	FOXC1, LOC129995601 (M109V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2703754	NM_001453.3(FOXC1):c.284C>T (p.Pro95Leu)	FOXC1, LOC129995601 (P95L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2699289	NM_001453.3(FOXC1):c.249C>A (p.Tyr83Ter)	FOXC1, LOC129995601 (Y83*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2628025	NM_001453.3(FOXC1):c.315C>G (p.Tyr105Ter)	FOXC1, LOC129995601 (Y105*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 2571241	NM_001453.3(FOXC1):c.236C>A (p.Pro79Gln)	FOXC1, LOC129995601 (P79Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2503306	NM_001453.3(FOXC1):c.-303C>T	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2420914	NM_001453.3(FOXC1):c.315C>T (p.Tyr105=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2190851	NM_001453.3(FOXC1):c.264C>T (p.Thr88=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2186242	NM_001453.3(FOXC1):c.309C>T (p.Gly103=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2145310	NM_001453.3(FOXC1):c.297C>G (p.Ile99Met)	FOXC1, LOC129995601 (I99M)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2112263	NM_001453.3(FOXC1):c.307G>C (p.Gly103Arg)	FOXC1, LOC129995601 (G103R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1977090	NM_001453.3(FOXC1):c.261C>T (p.Ile87=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1693155	NM_001453.3(FOXC1):c.470A>T (p.Asp157Val)	FOXC1 (D157V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 1693154	NM_001453.3(FOXC1):c.407T>C (p.Phe136Ser)	FOXC1 (F136S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 1693153	NM_001453.3(FOXC1):c.269C>T (p.Ala90Val)	FOXC1, LOC129995601 (A90V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 1693152	NM_001453.3(FOXC1):c.257T>G (p.Leu86Arg)	FOXC1, LOC129995601 (L86R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693151	NM_001453.3(FOXC1):c.241T>C (p.Tyr81His)	FOXC1, LOC129995601 (Y81H)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693150	NM_001453.3(FOXC1):c.1508del (p.Asn503fs)	FOXC1 (N503fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693149	NM_001453.3(FOXC1):c.1430del (p.Gln477fs)	FOXC1 (Q477fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693148	NM_001453.3(FOXC1):c.1193_1196dup (p.Met400fs)	FOXC1 (M400fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693147	NM_001453.3(FOXC1):c.1141dup (p.Ala381fs)	FOXC1 (A381fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693145	NM_001453.3(FOXC1):c.965_977dup (p.Leu328fs)	FOXC1 (L328fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693144	NM_001453.3(FOXC1):c.821del (p.Pro274fs)	FOXC1 (P274fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693143	NM_001453.3(FOXC1):c.816_817delinsA (p.Ser272fs)	FOXC1 (S272fs)	Indel (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693142	NM_001453.3(FOXC1):c.502del (p.Leu168fs)	FOXC1 (L168fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic/Likely pathogenic
Select item 1693141	NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)	FOXC1 (W122*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693140	NM_001453.3(FOXC1):c.354del (p.Asn118fs)	FOXC1 (N118fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693139	NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)	FOXC1, LOC129995601 (Q92*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693138	NM_001453.3(FOXC1):c.176dup (p.Met60fs)	FOXC1 (M60fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1693137	NM_001453.3(FOXC1):c.65dup (p.Gln23fs)	FOXC1 (Q23fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1687309	NM_001453.3(FOXC1):c.241_243del (p.Tyr81del)	FOXC1, LOC129995601 (Y81del)	Deletion (inframe_deletion)	Anterior segment dysgenesis 3	GUncertain significance
Select item 1676337	NM_001453.3(FOXC1):c.*547G>A	FOXC1	Single nucleotide variant	not provided	GLikely benign
Select item 1658703	NM_001453.3(FOXC1):c.306C>T (p.Asn102=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1524543	NM_001453.3(FOXC1):c.256_267del (p.Leu86_Met89del)	FOXC1, LOC129995601	Deletion (inframe_deletion)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1466390	NM_001453.3(FOXC1):c.275A>C (p.Gln92Pro)	FOXC1, LOC129995601 (Q92P)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1365829	NM_001453.3(FOXC1):c.327G>A (p.Met109Ile)	FOXC1, LOC129995601 (M109I)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1344735	NM_001453.3(FOXC1):c.1139G>T (p.Gly380Val)	FOXC1 (G380V)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344731	NM_001453.3(FOXC1):c.1025C>T (p.Ala342Val)	FOXC1 (A342V)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344729	NM_001453.3(FOXC1):c.430AAG[1] (p.Lys145del)	FOXC1 (K145del)	Microsatellite (inframe_deletion)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344728	NM_001453.3(FOXC1):c.207GCAGCC[3] (p.70QP[3])	FOXC1	Microsatellite (inframe_insertion)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344727	NM_001453.3(FOXC1):c.176G>T (p.Gly59Val)	FOXC1 (G59V)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1322930	NM_001453.3(FOXC1):c.1059C>G (p.Tyr353Ter)	FOXC1 (Y353*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1251979	NM_001453.3(FOXC1):c.246C>A (p.Ser82Arg)	FOXC1, LOC129995601 (S82R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1229415	NM_001453.3(FOXC1):c.-418_-417del	FOXC1, LOC129995600	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1220557	NM_001453.3(FOXC1):c.-417del	FOXC1, LOC129995600	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1175413	NM_001453.3(FOXC1):c.-244C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1072188	NM_001453.3(FOXC1):c.244dup (p.Ser82fs)	FOXC1, LOC129995601 (S82fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 987157	NM_001453.3(FOXC1):c.448del (p.Ser150fs)	FOXC1 (S150fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 932294	NM_001453.3(FOXC1):c.478_482dup (p.Met161fs)	FOXC1 (M161fs)	Duplication (frameshift variant)	Anterior segment dysgenesis	GPathogenic
Select item 932288	NM_001453.3(FOXC1):c.518G>A (p.Arg173His)	FOXC1 (R173H)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis	GLikely pathogenic
Select item 931490	NM_001453.3(FOXC1):c.456G>T (p.Trp152Cys)	FOXC1 (W152C)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 931149	NM_001453.3(FOXC1):c.655C>T (p.Pro219Ser)	FOXC1 (P219S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 844151	NM_001453.3(FOXC1):c.262A>C (p.Thr88Pro)	FOXC1, LOC129995601 (T88P)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 809858	NM_001453.3(FOXC1):c.290AGA[1] (p.Lys98del)	FOXC1, LOC129995601 (K98del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 744865	NM_001453.3(FOXC1):c.300C>G (p.Thr100=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712754	NM_001453.3(FOXC1):c.252C>T (p.Ile84=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 591882	NM_001453.3(FOXC1):c.1338CGG[13] (p.Gly452_Gly456dup)	FOXC1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 591840	NM_001453.3(FOXC1):c.38T>G (p.Leu13Arg)	FOXC1 (L13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591544	NM_001453.3(FOXC1):c.1111_1119del (p.Ala371_Ser373del)	FOXC1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 537388	NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser)	FOXC1, LOC129995601 (P79S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 426221	NM_001453.3(FOXC1):c.254C>T (p.Ala85Val)	FOXC1, LOC129995601 (A85V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 375424	NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)	FOXC1, LOC129995601 (Q106*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 375423	NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)	FOXC1, LOC129995601 (A90D)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 375422	NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr)	FOXC1, LOC129995601 (A90T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 289288	NM_001453.3(FOXC1):c.290dup (p.Lys98fs)	FOXC1, LOC129995601 (K98fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 265478	NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)	FOXC1, LOC129995601 (L86F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 265158	NM_001453.3(FOXC1):c.246C>G (p.Ser82Arg)	FOXC1, LOC129995601 (S82R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 193206	NM_001453.3(FOXC1):c.279C>T (p.Asn93=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 183252	NM_001453.3(FOXC1):c.1134_1144del (p.Gly380fs)	FOXC1 (G380fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 183251	NM_001453.3(FOXC1):c.-429C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 183250	NM_001453.3(FOXC1):c.-244C>T	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 167084	NM_001453.3(FOXC1):c.263C>T (p.Thr88Ile)	FOXC1, LOC129995601 (T88I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 100688	NM_001453.3(FOXC1):c.377T>G (p.Ile126Ser)	FOXC1 (I126S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 8459	NM_001453.3(FOXC1):c.261C>G (p.Ile87Met)	FOXC1, LOC129995601 (I87M)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 8458	NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr)	FOXC1, LOC129995601 (S82T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 8457	FOXC1, 22-BP INS, NT26	FOXC1	Insertion	Anterior segment dysgenesis 3	GPathogenic
Select item 8456	FOXC1, DUP	FOXC1	Duplication	Anterior segment dysgenesis 3	GPathogenic

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Items: 90