ClinVar for MedGen (Select 394534) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3236695	NM_001453.3(FOXC1):c.1009_1012dup (p.Ala338fs)	FOXC1 (A338fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3236692	NM_001453.3(FOXC1):c.-296_*345del (p.Met1fs)	FOXC1, LOC129995600 +1 more (M1fs)	Deletion (frameshift variant +1 more)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3021131	NM_001453.3(FOXC1):c.1228G>T (p.Gly410Cys)	FOXC1 (G410C)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3016742	NM_001453.3(FOXC1):c.868T>G (p.Ser290Ala)	FOXC1 (S290A)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3016523	NM_001453.3(FOXC1):c.1573G>A (p.Gly525Arg)	FOXC1 (G525R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3013328	NM_001453.3(FOXC1):c.1022G>A (p.Arg341His)	FOXC1 (R341H)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3013009	NM_001453.3(FOXC1):c.768G>T (p.Lys256Asn)	FOXC1 (K256N)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
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 3004962	NM_001453.3(FOXC1):c.1390G>A (p.Ala464Thr)	FOXC1 (A464T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3003613	NM_001453.3(FOXC1):c.818C>T (p.Pro273Leu)	FOXC1 (P273L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3003410	NM_001453.3(FOXC1):c.1304C>G (p.Pro435Arg)	FOXC1 (P435R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 2996143	NM_001453.3(FOXC1):c.159C>G (p.Ala53=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2995216	NM_001453.3(FOXC1):c.1265C>T (p.Ser422Leu)	FOXC1 (S422L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2994890	NM_001453.3(FOXC1):c.155A>G (p.His52Arg)	FOXC1 (H52R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2993474	NM_001453.3(FOXC1):c.614C>T (p.Pro205Leu)	FOXC1 (P205L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2993123	NM_001453.3(FOXC1):c.1040C>T (p.Pro347Leu)	FOXC1 (P347L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2991907	NM_001453.3(FOXC1):c.587C>T (p.Pro196Leu)	FOXC1 (P196L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2988207	NM_001453.3(FOXC1):c.1437C>T (p.Gly479=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2983621	NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)	FOXC1 (P17S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2982643	NM_001453.3(FOXC1):c.447C>T (p.Gly149=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2965260	NM_001453.3(FOXC1):c.1380C>T (p.Gly460=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2956461	NM_001453.3(FOXC1):c.548A>G (p.Lys183Arg)	FOXC1 (K183R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2919321	NM_001453.3(FOXC1):c.1509C>T (p.Asn503=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2913939	NM_001453.3(FOXC1):c.1253G>C (p.Gly418Ala)	FOXC1 (G418A)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2913025	NM_001453.3(FOXC1):c.1337_1339del (p.His446_Gly447delinsArg)	FOXC1	Deletion (inframe_indel)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2898918	NM_001453.3(FOXC1):c.175G>A (p.Gly59Ser)	FOXC1 (G59S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2892336	NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)	FOXC1 (P321L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2886317	NM_001453.3(FOXC1):c.1300C>T (p.Pro434Ser)	FOXC1 (P434S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2875978	NM_001453.3(FOXC1):c.1029G>A (p.Gly343=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2860824	NM_001453.3(FOXC1):c.389_392del (p.Leu130fs)	FOXC1 (L130fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
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 2853837	NM_001453.3(FOXC1):c.1149_1158dup (p.Ala387fs)	FOXC1 (A387fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2852771	NM_001453.3(FOXC1):c.888G>T (p.Ala296=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2852662	NM_001453.3(FOXC1):c.1326G>A (p.Ser442=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2843637	NM_001453.3(FOXC1):c.487_488insGCATGTAGG (p.Glu163delinsGlyMetTer)	FOXC1	Insertion (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2835447	NM_001453.3(FOXC1):c.1157dup (p.Ala387fs)	FOXC1 (A387fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2832214	NM_001453.3(FOXC1):c.1345G>A (p.Gly449Ser)	FOXC1 (G449S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2824091	NM_001453.3(FOXC1):c.440G>T (p.Gly147Val)	FOXC1 (G147V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2822575	NM_001453.3(FOXC1):c.129C>T (p.Pro43=)	FOXC1	Single nucleotide variant (synonymous 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 2807449	NM_001453.3(FOXC1):c.1492C>T (p.Pro498Ser)	FOXC1 (P498S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2804834	NM_001453.3(FOXC1):c.1181A>G (p.His394Arg)	FOXC1 (H394R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2804282	NM_001453.3(FOXC1):c.39G>A (p.Leu13=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2802857	NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)	FOXC1 (S12T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2790535	NM_001453.3(FOXC1):c.1290C>T (p.Asp430=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2785908	NM_001453.3(FOXC1):c.1078C>T (p.Leu360Phe)	FOXC1 (L360F)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2782170	NM_001453.3(FOXC1):c.1038C>T (p.Pro346=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2776108	NM_001453.3(FOXC1):c.192C>T (p.Tyr64=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2771857	NM_001453.3(FOXC1):c.652C>T (p.Pro218Ser)	FOXC1 (P218S)	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 2761437	NM_001453.3(FOXC1):c.1483G>A (p.Ala495Thr)	FOXC1 (A495T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2760761	NM_001453.3(FOXC1):c.730G>A (p.Ala244Thr)	FOXC1 (A244T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2756233	NM_001453.3(FOXC1):c.796dup (p.Ser266fs)	FOXC1 (S266fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2755662	NM_001453.3(FOXC1):c.104del (p.Gly35fs)	FOXC1 (G35fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2737948	NM_001453.3(FOXC1):c.403T>A (p.Cys135Ser)	FOXC1 (C135S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2734820	NM_001453.3(FOXC1):c.493G>C (p.Gly165Arg)	FOXC1 (G165R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2731505	NM_001453.3(FOXC1):c.453C>T (p.Tyr151=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2730690	NM_001453.3(FOXC1):c.936C>T (p.Asn312=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2727823	NM_001453.3(FOXC1):c.182C>T (p.Ala61Val)	FOXC1 (A61V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2727785	NM_001453.3(FOXC1):c.642C>A (p.Pro214=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2720434	NM_001453.3(FOXC1):c.955G>A (p.Gly319Arg)	FOXC1 (G319R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2719215	NM_001453.3(FOXC1):c.1394C>G (p.Ala465Gly)	FOXC1 (A465G)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2717417	NM_001453.3(FOXC1):c.1076C>T (p.Ser359Phe)	FOXC1 (S359F)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2715266	NM_001453.3(FOXC1):c.441C>G (p.Gly147=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2713057	NM_001453.3(FOXC1):c.1207T>C (p.Tyr403His)	FOXC1 (Y403H)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 2713006	NM_001453.3(FOXC1):c.108C>G (p.Gly36=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2711419	NM_001453.3(FOXC1):c.1179C>G (p.Tyr393Ter)	FOXC1 (Y393*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2711296	NM_001453.3(FOXC1):c.756C>T (p.Ala252=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2710507	NM_001453.3(FOXC1):c.562A>G (p.Arg188Gly)	FOXC1 (R188G)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2705438	NM_001453.3(FOXC1):c.1140dup (p.Ala381fs)	FOXC1 (A381fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2705437	NM_001453.3(FOXC1):c.1137C>G (p.Gly379=)	FOXC1	Single nucleotide variant (synonymous 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 2689086	NM_001453.3(FOXC1):c.1007C>T (p.Ala336Val)	FOXC1 (A336V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 2628026	NM_001453.3(FOXC1):c.1092dup (p.Cys365fs)	FOXC1 (C365fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
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 2582224	NM_001453.3(FOXC1):c.90del (p.Ala31fs)	FOXC1 (A31fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2559774	NM_001453.3(FOXC1):c.745G>C (p.Gly249Arg)	FOXC1 (G249R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 2506536	GRCh37/hg19 6p25.3(chr6:491126-1624775)	EXOC2, FOXC1 +4 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2427943	NM_001453.3(FOXC1):c.1496G>C (p.Gly499Ala)	FOXC1 (G499A)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2424168	NC_000006.11:g.(?_1610681)_(1612342_?)del	FOXC1	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2424167	NC_000006.11:g.(?_1610666)_(1612017_?)del	FOXC1	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2424166	NC_000006.11:g.(?_1609367)_(1610939_?)del	FOXC1	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2421914	NM_001453.3(FOXC1):c.632G>A (p.Gly211Asp)	FOXC1 (G211D)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
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 2417992	NM_001453.3(FOXC1):c.733G>A (p.Ala245Thr)	FOXC1 (A245T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2415184	NM_001453.3(FOXC1):c.577G>A (p.Glu193Lys)	FOXC1 (E193K)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2413238	NM_001453.3(FOXC1):c.683C>T (p.Thr228Ile)	FOXC1 (T228I)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2314663	NM_001453.3(FOXC1):c.1004C>T (p.Ser335Leu)	FOXC1 (S335L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 2200750	NM_001453.3(FOXC1):c.1025C>G (p.Ala342Gly)	FOXC1 (A342G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2199564	NM_001453.3(FOXC1):c.536C>T (p.Ala179Val)	FOXC1 (A179V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2198492	NM_001453.3(FOXC1):c.778C>G (p.Pro260Ala)	FOXC1 (P260A)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2197093	NM_001453.3(FOXC1):c.639G>T (p.Ala213=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder +1 more	GBenign/Likely benign
Select item 2195604	NM_001453.3(FOXC1):c.543G>A (p.Lys181=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2195333	NM_001453.3(FOXC1):c.735_758dup (p.Ala253_Val254insLeuGlySerGlySerAlaAlaAla)	FOXC1	Duplication (inframe_insertion)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2194120	NM_001453.3(FOXC1):c.816C>A (p.Ser272Arg)	FOXC1 (S272R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2193524	NM_001453.3(FOXC1):c.1137C>T (p.Gly379=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2192908	NM_001453.3(FOXC1):c.785G>A (p.Ser262Asn)	FOXC1 (S262N)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance

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