ClinVar for Gene (Select 2300) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279620	NM_005250.3(FOXL1):c.826C>T (p.Pro276Ser)	FOXL1 (P276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279619	NM_005250.3(FOXL1):c.505C>A (p.Gln169Lys)	FOXL1 (Q169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279618	NM_005250.3(FOXL1):c.98C>G (p.Ala33Gly)	FOXL1 (A33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279617	NM_005250.3(FOXL1):c.916C>T (p.Pro306Ser)	FOXL1 (P306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3096478	NM_005250.3(FOXL1):c.913C>G (p.Arg305Gly)	FOXL1 (R305G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096477	NM_005250.3(FOXL1):c.840A>C (p.Glu280Asp)	FOXL1 (E280D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096476	NM_005250.3(FOXL1):c.805G>A (p.Gly269Arg)	FOXL1 (G269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096474	NM_005250.3(FOXL1):c.665C>T (p.Ala222Val)	FOXL1 (A222V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096473	NM_005250.3(FOXL1):c.509C>T (p.Pro170Leu)	FOXL1 (P170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096471	NM_005250.3(FOXL1):c.499G>A (p.Glu167Lys)	FOXL1 (E167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096470	NM_005250.3(FOXL1):c.1027C>T (p.His343Tyr)	FOXL1 (H343Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 2628013	NM_005250.3(FOXL1):c.976_990del (p.Gly326_Leu330del)	FOXL1	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2608187	NM_005250.3(FOXL1):c.475G>T (p.Ala159Ser)	FOXL1 (A159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545672	NM_005250.3(FOXL1):c.76C>G (p.Pro26Ala)	FOXL1 (P26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543836	NM_005250.3(FOXL1):c.511G>A (p.Glu171Lys)	FOXL1 (E171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540509	NM_005250.3(FOXL1):c.508C>T (p.Pro170Ser)	FOXL1 (P170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498685	GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1	BANP, C16orf95 +12 more	Copy number loss	not provided	GPathogenic
Select item 2481864	NM_005250.3(FOXL1):c.110C>T (p.Ala37Val)	FOXL1 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409035	NM_005250.3(FOXL1):c.451G>A (p.Ala151Thr)	FOXL1 (A151T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398021	NM_005250.3(FOXL1):c.844C>A (p.Leu282Ile)	FOXL1 (L282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398019	NM_005250.3(FOXL1):c.176C>T (p.Ala59Val)	FOXL1 (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385614	NM_005250.3(FOXL1):c.49A>T (p.Met17Leu)	FOXL1 (M17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379710	NM_005250.3(FOXL1):c.670G>A (p.Gly224Ser)	FOXL1 (G224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378708	NM_005250.3(FOXL1):c.641C>G (p.Pro214Arg)	FOXL1 (P214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371182	NM_005250.3(FOXL1):c.379C>T (p.Pro127Ser)	FOXL1 (P127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360324	NM_005250.3(FOXL1):c.625C>T (p.Pro209Ser)	FOXL1 (P209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323017	NM_005250.3(FOXL1):c.509C>A (p.Pro170Gln)	FOXL1 (P170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322853	NM_005250.3(FOXL1):c.40G>T (p.Ala14Ser)	FOXL1 (A14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315622	NM_005250.3(FOXL1):c.586C>T (p.Leu196Phe)	FOXL1 (L196F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313544	NM_005250.3(FOXL1):c.263A>T (p.Asp88Val)	FOXL1 (D88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306497	NM_005250.3(FOXL1):c.727C>T (p.Pro243Ser)	FOXL1 (P243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285298	NM_005250.3(FOXL1):c.244C>T (p.Arg82Cys)	FOXL1 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237205	NM_005250.3(FOXL1):c.59T>C (p.Leu20Pro)	FOXL1 (L20P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2233788	NM_005250.3(FOXL1):c.493A>G (p.Ser165Gly)	FOXL1 (S165G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232174	NM_005250.3(FOXL1):c.858G>T (p.Lys286Asn)	FOXL1 (K286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 979482	GRCh37/hg19 16q24.1(chr16:86287540-86718579)x3	FOXL1, FENDRR +3 more	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 869495	NC_000016.9:g.86243180_87703229del	FBXO31, ZCCHC14-DT +9 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 813309	GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)	ZCCHC14-DT, ZDHHC7 +20 more	Copy number loss	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443397	GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1	C16orf74, C16orf95 +18 more	Copy number loss	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	ACSF3, ANKRD11 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic
Select item 218670	NM_005250.3(FOXL1):c.458A>C (p.Glu153Ala)	FOXL1 (E153A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 152881	GRCh38/hg38 16q24.1(chr16:86271377-86672163)x3	FENDRR, FLJ30679 +19 more	Copy number gain	See cases	GUncertain significance
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 84