ClinVar for MedGen (Select 75566) - ClinVar

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Items: 33

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25802151.	NM_005251.3(FOXC2):c.529_531del (p.Lys177del) GRCh37: Chr16:86601468-86601470 GRCh38: Chr16:86567862-86567864	FOXC2	K177del	Distichiasis-lymphedema syndrome	Uncertain significance (Feb 22, 2023)	criteria provided, single submitter
Select item 24415392.	NM_005251.3(FOXC2):c.1265C>T (p.Ala422Val) GRCh37: Chr16:86602206 GRCh38: Chr16:86568600	FOXC2	A422V	Distichiasis-lymphedema syndrome	Uncertain significance (Apr 8, 2020)	criteria provided, single submitter
Select item 16872113.	NM_005251.3(FOXC2):c.1221del (p.Gln407fs) GRCh37: Chr16:86602162 GRCh38: Chr16:86568556	FOXC2	Q407fs	Distichiasis-lymphedema syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 13308284.	NM_005251.3(FOXC2):c.889GTG[3] (p.Val298dup) GRCh37: Chr16:86601827-86601828 GRCh38: Chr16:86568221-86568222	FOXC2		Distichiasis-lymphedema syndrome, not provided	Uncertain significance (Dec 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13229315.	NM_005251.3(FOXC2):c.298C>T (p.Gln100Ter) GRCh37: Chr16:86601239 GRCh38: Chr16:86567633	FOXC2, FOXC2-AS1	Q100*	Distichiasis-lymphedema syndrome	Pathogenic (Jul 30, 2020)	criteria provided, single submitter
Select item 10573796.	NM_005251.3(FOXC2):c.1169_1189del (p.Gln390_His396del) GRCh37: Chr16:86602097-86602117 GRCh38: Chr16:86568491-86568511	FOXC2		Distichiasis-lymphedema syndrome, not provided	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10323037.	NM_005251.3(FOXC2):c.973del (p.Ala325fs) GRCh37: Chr16:86601911 GRCh38: Chr16:86568305	FOXC2	A325fs	Distichiasis-lymphedema syndrome	Pathogenic (Jul 12, 2018)	criteria provided, single submitter
Select item 10308978.	NM_005251.3(FOXC2):c.782C>A (p.Ala261Asp) GRCh37: Chr16:86601723 GRCh38: Chr16:86568117	FOXC2	A261D	Distichiasis-lymphedema syndrome	Uncertain significance (Oct 7, 2019)	criteria provided, single submitter
Select item 10308969.	NM_005251.3(FOXC2):c.760G>C (p.Gly254Arg) GRCh37: Chr16:86601701 GRCh38: Chr16:86568095	FOXC2	G254R	Distichiasis-lymphedema syndrome	Uncertain significance (Aug 13, 2019)	criteria provided, single submitter
Select item 99557310.	NM_005251.3(FOXC2):c.710dup (p.Gln238fs) GRCh37: Chr16:86601650-86601651 GRCh38: Chr16:86568044-86568045	FOXC2	Q238fs	Distichiasis-lymphedema syndrome	Pathogenic (Nov 20, 2020)	criteria provided, single submitter
Select item 98788711.	NM_005251.3(FOXC2):c.563_573del (p.Pro188fs) GRCh37: Chr16:86601502-86601512 GRCh38: Chr16:86567896-86567906	FOXC2	P188fs	Distichiasis-lymphedema syndrome	Pathogenic (Nov 11, 2020)	criteria provided, single submitter
Select item 91658012.	NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter) GRCh37: Chr16:86601288 GRCh38: Chr16:86567682	FOXC2, FOXC2-AS1	W116*	Distichiasis-lymphedema syndrome	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 76698413.	NM_005251.3(FOXC2):c.1364A>G (p.Asn455Ser) GRCh37: Chr16:86602305 GRCh38: Chr16:86568699	FOXC2	N455S	not provided, Distichiasis-lymphedema syndrome	Likely benign (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76271114.	NM_005251.3(FOXC2):c.605A>C (p.Asp202Ala) GRCh37: Chr16:86601546 GRCh38: Chr16:86567940	FOXC2	D202A	not provided, Distichiasis-lymphedema syndrome	Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69206715.	NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter) GRCh37: Chr16:86601880 GRCh38: Chr16:86568274	FOXC2	Y313*	Distichiasis-lymphedema syndrome	Likely pathogenic (Dec 21, 2018)	criteria provided, single submitter
Select item 62317116.	NM_005251.2(FOXC2):c.(?_1)_(1506_?)del GRCh37: Chr16:86600942-86602447 GRCh38: Chr16:86567336-86568841	FOXC2, FOXC2-AS1		Distichiasis-lymphedema syndrome	Likely pathogenic (Apr 16, 2018)	criteria provided, single submitter
Select item 59924517.	NM_005251.3(FOXC2):c.1258C>T (p.Gln420Ter) GRCh37: Chr16:86602199 GRCh38: Chr16:86568593	FOXC2	Q420*	Distichiasis-lymphedema syndrome	Pathogenic (Jan 2, 2019)	no assertion criteria provided
Select item 59924418.	NM_005251.3(FOXC2):c.1205C>T (p.Pro402Leu) GRCh37: Chr16:86602146 GRCh38: Chr16:86568540	FOXC2	P402L	Distichiasis-lymphedema syndrome	Pathogenic (Jan 2, 2019)	no assertion criteria provided
Select item 59924319.	NM_005251.3(FOXC2):c.122A>T (p.Tyr41Phe) GRCh37: Chr16:86601063 GRCh38: Chr16:86567457	FOXC2, FOXC2-AS1	Y41F	Distichiasis-lymphedema syndrome	Pathogenic (Jan 2, 2019)	no assertion criteria provided
Select item 59924220.	NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) GRCh37: Chr16:86601302 GRCh38: Chr16:86567696	FOXC2, FOXC2-AS1	R121C	not provided, Distichiasis-lymphedema syndrome, Inborn genetic diseases	Pathogenic/Likely pathogenic (May 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 54794821.	NM_005251.3(FOXC2):c.1331A>G (p.Gln444Arg) GRCh37: Chr16:86602272 GRCh38: Chr16:86568666	FOXC2	Q444R	not provided, Distichiasis-lymphedema syndrome	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 726122.	NM_005251.3(FOXC2):c.362G>A (p.Arg121His) GRCh37: Chr16:86601303 GRCh38: Chr16:86567697	FOXC2, FOXC2-AS1	R121H	Distichiasis-lymphedema syndrome	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 726023.	NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) GRCh37: Chr16:86601315 GRCh38: Chr16:86567709	FOXC2, FOXC2-AS1	S125L	Distichiasis-lymphedema syndrome	Pathogenic (Sep 15, 2005)	no assertion criteria provided
Select item 725924.	NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp) GRCh37: Chr16:86601543-86601622 GRCh38: Chr16:86567937-86568016	FOXC2		Distichiasis-lymphedema syndrome	Pathogenic (Nov 1, 2001)	no assertion criteria provided
Select item 725725.	NM_005251.3(FOXC2):c.914_921del (p.Tyr305fs) GRCh37: Chr16:86601855-86601862 GRCh38: Chr16:86568249-86568256	FOXC2	Y305fs	Distichiasis-lymphedema syndrome	Pathogenic (Nov 8, 2022)	criteria provided, single submitter
Select item 725626.	NM_005251.3(FOXC2):c.509del (p.Lys170fs) GRCh37: Chr16:86601446 GRCh38: Chr16:86567840	FOXC2	K170fs	Distichiasis-lymphedema syndrome	Pathogenic (May 15, 2001)	no assertion criteria provided
Select item 725527.	NM_005251.3(FOXC2):c.588dup (p.Thr197fs) GRCh37: Chr16:86601527-86601528 GRCh38: Chr16:86567921-86567922	FOXC2	T197fs	Distichiasis-lymphedema syndrome	Pathogenic (Mar 1, 2008)	no assertion criteria provided
Select item 725428.	NM_005251.3(FOXC2):c.200_201dup (p.Lys68fs) GRCh37: Chr16:86601140-86601141 GRCh38: Chr16:86567534-86567535	FOXC2, FOXC2-AS1	K68fs	Distichiasis-lymphedema syndrome	Pathogenic (Jun 1, 2001)	no assertion criteria provided
Select item 725329.	NM_005251.3(FOXC2):c.209dup (p.Val71fs) GRCh37: Chr16:86601149-86601150 GRCh38: Chr16:86567543-86567544	FOXC2, FOXC2-AS1	V71fs	Distichiasis-lymphedema syndrome	Pathogenic (Jun 1, 2001)	no assertion criteria provided
Select item 725230.	NM_005251.3(FOXC2):c.1331del (p.Gln444fs) GRCh37: Chr16:86602272 GRCh38: Chr16:86568666	FOXC2	Q444fs	Distichiasis-lymphedema syndrome	Pathogenic (Jun 1, 2001)	no assertion criteria provided
Select item 725131.	NM_005251.3(FOXC2):c.290_300del (p.Gly97fs) GRCh37: Chr16:86601230-86601240 GRCh38: Chr16:86567624-86567634	FOXC2, FOXC2-AS1	G97fs	Distichiasis-lymphedema syndrome	Pathogenic (Jun 1, 2001)	no assertion criteria provided
Select item 725032.	NM_005251.3(FOXC2):c.1090_1093dup (p.Pro365fs) GRCh37: Chr16:86602029-86602030 GRCh38: Chr16:86568423-86568424	FOXC2	P365fs	Distichiasis-lymphedema syndrome	Pathogenic (Dec 1, 2000)	no assertion criteria provided
Select item 724933.	NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) GRCh37: Chr16:86601238 GRCh38: Chr16:86567632	FOXC2, FOXC2-AS1	Y99*	Distichiasis-lymphedema syndrome	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter

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Items: 33