2294[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 226

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 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 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 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 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 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 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 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 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 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
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 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 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 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 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 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	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 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 1971649	NC_000016.10:g.86182983T>C	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1660345	NC_000016.10:g.86183013C>T	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1597756	NC_000016.10:g.86184620G>A	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1970978	NC_000016.10:g.86184637G>C	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 2869286	NC_000016.10:g.86184713A>G	FOXF1	Single nucleotide variant	not provided	GUncertain significance
Select item 1603399	NC_000016.10:g.86184895G>A	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1634126	NC_000016.10:g.86186622T>G	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1659990	NC_000016.10:g.86186838T>C	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 152881	GRCh38/hg38 16q24.1(chr16:86271377-86672163)x3	FENDRR, FLJ30679 +19 more	Copy number gain	See cases	GUncertain significance
Select item 1236254	NC_000016.10:g.86510208T>C	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 1264635	NC_000016.10:g.86510441C>A	FOXF1	Single nucleotide variant	not provided	GBenign
Select item 3050972	NM_001451.3(FOXF1):c.-4C>T	FOXF1	Single nucleotide variant (5 prime UTR variant)	FOXF1-related disorder	GLikely benign
Select item 1033844	NM_001451.3(FOXF1):c.-2C>T	FOXF1	Single nucleotide variant (5 prime UTR variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 228348	NM_001451.2(FOXF1):c.(?_15)_(*58_?)del	FOXF1	Deletion	Idiopathic and/or familial pulmonary arterial hypertension	GPathogenic
Select item 2549701	NM_001451.3(FOXF1):c.16G>C (p.Glu6Gln)	FOXF1 (E6Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500699	NM_001451.3(FOXF1):c.21del (p.Lys7fs)	FOXF1 (K7fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 3279578	NM_001451.3(FOXF1):c.31C>T (p.Pro11Ser)	FOXF1 (P11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2907581	NM_001451.3(FOXF1):c.32C>A (p.Pro11Gln)	FOXF1 (P11Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355054	NM_001451.3(FOXF1):c.36CGG[12] (p.Gly23_Ala24insGlyGlyGlyGly)	FOXF1	Microsatellite (inframe_insertion)	FOXF1-related disorder	GUncertain significance
Select item 320786	NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup)	FOXF1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2646946	NM_001451.3(FOXF1):c.36CGG[7] (p.Gly23del)	FOXF1 (G23del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2068637	NM_001451.3(FOXF1):c.36CGG[5] (p.Gly21_Gly23del)	FOXF1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1949934	NM_001451.3(FOXF1):c.36CGG[6] (p.Gly22_Gly23del)	FOXF1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2609547	NM_001451.3(FOXF1):c.38G>T (p.Gly13Val)	FOXF1 (G13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1950436	NM_001451.3(FOXF1):c.44_45insAGGCGG (p.Gly23_Ala24insGlyGly)	FOXF1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2500034	NM_001451.3(FOXF1):c.47_48insGCGGCGGCGGCGGGGGAG (p.Gly16_Gly17insArgArgArgArgGlySer)	FOXF1	Microsatellite (inframe_insertion)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 2266797	NM_001451.3(FOXF1):c.46G>A (p.Gly16Ser)	FOXF1 (G16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 973755	NM_001451.3(FOXF1):c.57_60del (p.Gly20fs)	FENDRR, FOXF1 (G20fs)	Deletion (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2997252	NM_001451.3(FOXF1):c.57_58insCCC (p.Gly19_Gly20insPro)	FOXF1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 320787	NM_001451.3(FOXF1):c.60_62del (p.Gly23del)	FOXF1 (G23del)	Deletion (inframe_deletion)	Alveolar capillary dysplasia with pulmonary venous misalignment +1 more	GConflicting classifications of pathogenicity
Select item 3096377	NM_001451.3(FOXF1):c.70G>A (p.Ala24Thr)	FOXF1 (A24T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 988558	NM_001451.3(FOXF1):c.75del (p.Met26fs)	FOXF1 (M26fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3096378	NM_001451.3(FOXF1):c.85G>T (p.Ala29Ser)	FOXF1 (A29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800366	NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter)	FOXF1 (S30*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 758200	NM_001451.3(FOXF1):c.90G>C (p.Ser30=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096379	NM_001451.3(FOXF1):c.95G>A (p.Gly32Asp)	FOXF1 (G32D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965728	NM_001451.3(FOXF1):c.98C>T (p.Pro33Leu)	FOXF1 (P33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1437741	NM_001451.3(FOXF1):c.98C>A (p.Pro33Gln)	FOXF1 (P33Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448136	NM_001451.3(FOXF1):c.121dup (p.Ala41fs)	FOXF1 (A41fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 800377	NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala)	FOXF1 (P49A)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 800365	NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser)	FOXF1 (P49S)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2851190	NM_001451.3(FOXF1):c.146C>T (p.Pro49Leu)	FOXF1 (P49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500035	NM_001451.3(FOXF1):c.166C>T (p.Leu56Phe)	FOXF1 (L56F)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GUncertain significance
Select item 869491	NM_001451.3(FOXF1):c.166C>G (p.Leu56Val)	FOXF1 (L56V)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 1301900	NM_001451.3(FOXF1):c.179C>T (p.Ala60Val)	FOXF1 (A60V)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 2630000	NM_001451.3(FOXF1):c.182T>C (p.Ile61Thr)	FOXF1 (I61T)	Single nucleotide variant (missense variant)	FOXF1-related disorder	GUncertain significance
Select item 2584540	NM_001451.3(FOXF1):c.185A>C (p.Gln62Pro)	FOXF1 (Q62P)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 1708273	NM_001451.3(FOXF1):c.191C>T (p.Ser64Leu)	FOXF1 (S64L)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 800369	NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter)	FOXF1 (S64*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 320789	NM_001451.3(FOXF1):c.204C>G (p.Arg68=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1562674	NM_001451.3(FOXF1):c.210G>T (p.Thr70=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800371	NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn)	FOXF1 (I74N)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 8462	NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter)	FOXF1 (Y75*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 3256575	NM_001451.3(FOXF1):c.229T>C (p.Phe77Leu)	FOXF1 (F77L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 997015	NM_001451.3(FOXF1):c.238_239del (p.Ser80fs)	FOXF1 (S80fs)	Microsatellite (frameshift variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2316673	NM_001451.3(FOXF1):c.248C>T (p.Pro83Leu)	FOXF1 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 916531	NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu)	FOXF1 (F85L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 2584512	NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp)	FOXF1 (R86W)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 1708313	NM_001451.3(FOXF1):c.260dup (p.Ser88fs)	FOXF1 (S88fs)	Duplication (frameshift variant)	See cases	GPathogenic
Select item 3349569	NM_001451.3(FOXF1):c.257G>A (p.Arg86Gln)	FOXF1 (R86Q)	Single nucleotide variant (missense variant)	FOXF1-related disorder	GUncertain significance
Select item 1710679	NM_001451.3(FOXF1):c.257G>C (p.Arg86Pro)	FOXF1 (R86P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 975042	NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys)	FOXF1 (Y89C)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 2662961	NM_001451.3(FOXF1):c.268C>T (p.Gln90Ter)	FOXF1 (Q90*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2781677	NM_001451.3(FOXF1):c.273C>T (p.Gly91=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1300142	NM_001451.3(FOXF1):c.276G>A (p.Trp92Ter)	FOXF1 (W92*)	Single nucleotide variant (nonsense)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 374061	NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)	FOXF1 (N94Y)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment +3 more	GLikely pathogenic
Select item 3253479	NM_001451.3(FOXF1):c.286G>A (p.Val96Met)	FOXF1 (V96M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 975041	NM_001451.3(FOXF1):c.286G>T (p.Val96Leu)	FOXF1 (V96L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 800373	NM_001451.3(FOXF1):c.294C>A (p.His98Gln)	FOXF1 (H98Q)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 3238843	NM_001451.3(FOXF1):c.298C>G (p.Leu100Val)	FOXF1 (L100V)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 997014	NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu)	FOXF1 (S101L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 3039849	NM_001451.3(FOXF1):c.306C>G (p.Leu102=)	FOXF1	Single nucleotide variant (synonymous variant)	FOXF1-related disorder	GLikely benign
Select item 2635136	NM_001451.3(FOXF1):c.310G>T (p.Glu104Ter)	FOXF1 (E104*)	Single nucleotide variant (nonsense)	FOXF1-related disorder	GPathogenic
Select item 800375	NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu)	FOXF1 (F106L)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 988538	NM_001451.3(FOXF1):c.322A>G (p.Lys108Glu)	FOXF1 (K108E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2357273	NM_001451.3(FOXF1):c.328C>G (p.Pro110Ala)	FOXF1 (P110A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2455742	NM_001451.3(FOXF1):c.346C>T (p.Pro116Ser)	FOXF1 (P116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750896	NM_001451.3(FOXF1):c.348C>T (p.Pro116=)	FOXF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2332706	NM_001451.3(FOXF1):c.349G>A (p.Gly117Ser)	FOXF1 (G117S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 808119	NM_001451.3(FOXF1):c.359A>G (p.His120Arg)	FOXF1 (H120R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816907	NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro)	FOXF1 (R138P)	Single nucleotide variant (missense variant)	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic

<< First< Prev

Page of 3