FOXJ1[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 1245777	NM_001454.4(FOXJ1):c.*189G>A	FOXJ1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3053190	NM_001454.4(FOXJ1):c.1263G>T (p.Leu421Phe)	FOXJ1 (L421F)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GLikely benign
Select item 3096416	NM_001454.4(FOXJ1):c.1249G>A (p.Val417Met)	FOXJ1 (V417M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096415	NM_001454.4(FOXJ1):c.1239C>G (p.Asp413Glu)	FOXJ1 (D413E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287281	NM_001454.4(FOXJ1):c.1220T>G (p.Leu407Arg)	FOXJ1 (L407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303601	NM_001454.4(FOXJ1):c.1210G>A (p.Asp404Asn)	FOXJ1 (D404N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096414	NM_001454.4(FOXJ1):c.1148A>C (p.Gln383Pro)	FOXJ1 (Q383P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269256	NM_001454.4(FOXJ1):c.1129C>G (p.Leu377Val)	FOXJ1 (L377V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631610	NM_001454.4(FOXJ1):c.1116C>G (p.Phe372Leu)	FOXJ1 (F372L)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GUncertain significance
Select item 2380587	NM_001454.4(FOXJ1):c.1111G>A (p.Asp371Asn)	FOXJ1 (D371N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032647	NM_001454.4(FOXJ1):c.1086G>A (p.Ser362=)	FOXJ1	Single nucleotide variant (synonymous variant)	FOXJ1-related disorder	GLikely benign
Select item 2319346	NM_001454.4(FOXJ1):c.1051C>T (p.Arg351Cys)	FOXJ1 (R351C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096413	NM_001454.4(FOXJ1):c.1048G>A (p.Gly350Ser)	FOXJ1 (G350S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252221	NM_001454.4(FOXJ1):c.1022_1040dup (p.Ile348fs)	FOXJ1 (I348fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2204402	NM_001454.4(FOXJ1):c.1036C>G (p.Leu346Val)	FOXJ1 (L346V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096412	NM_001454.4(FOXJ1):c.1024G>A (p.Val342Met)	FOXJ1 (V342M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803205	NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)	FOXJ1 (A339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2204710	NM_001454.4(FOXJ1):c.973G>C (p.Gly325Arg)	FOXJ1 (G325R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800281	NM_001454.4(FOXJ1):c.967del (p.Glu323fs)	FOXJ1 (E323fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 43	GPathogenic
Select item 1327791	NM_001454.4(FOXJ1):c.958C>G (p.Leu320Val)	FOXJ1 (L320V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3096421	NM_001454.4(FOXJ1):c.949G>T (p.Ala317Ser)	FOXJ1 (A317S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066105	NM_001454.4(FOXJ1):c.913dup (p.Leu305fs)	FOXJ1 (L305fs)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 43	GLikely pathogenic
Select item 800278	NM_001454.4(FOXJ1):c.901G>T (p.Glu301Ter)	FOXJ1 (E301*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 43	GPathogenic
Select item 2313992	NM_001454.4(FOXJ1):c.887C>T (p.Pro296Leu)	FOXJ1 (P296L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800279	NM_001454.4(FOXJ1):c.868_871dup (p.Thr291fs)	FOXJ1 (T291fs)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 43	GPathogenic
Select item 2462326	NM_001454.4(FOXJ1):c.859C>T (p.Arg287Trp)	FOXJ1 (R287W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209597	NM_001454.4(FOXJ1):c.857C>T (p.Pro286Leu)	FOXJ1 (P286L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327681	NM_001454.4(FOXJ1):c.837del (p.Lys280fs)	FOXJ1 (K280fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2631063	NM_001454.4(FOXJ1):c.832del (p.Leu278fs)	FOXJ1 (L278fs)	Deletion (frameshift variant)	FOXJ1-related disorder	GLikely pathogenic
Select item 800280	NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter)	FOXJ1 (Q276*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3032523	NM_001454.4(FOXJ1):c.782C>T (p.Ala261Val)	FOXJ1 (A261V)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GLikely benign
Select item 2286062	NM_001454.4(FOXJ1):c.740C>T (p.Ala247Val)	FOXJ1 (A247V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045834	NM_001454.4(FOXJ1):c.732T>C (p.Asn244=)	FOXJ1	Single nucleotide variant (synonymous variant)	FOXJ1-related disorder	GLikely benign
Select item 1258228	NM_001454.4(FOXJ1):c.726G>A (p.Thr242=)	FOXJ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3048320	NM_001454.4(FOXJ1):c.725C>T (p.Thr242Met)	FOXJ1 (T242M)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GLikely benign
Select item 3065691	NM_001454.4(FOXJ1):c.722T>C (p.Leu241Pro)	FOXJ1 (L241P)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 43	GUncertain significance
Select item 2535730	NM_001454.4(FOXJ1):c.709C>T (p.Arg237Trp)	FOXJ1 (R237W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527299	NM_001454.4(FOXJ1):c.709C>G (p.Arg237Gly)	FOXJ1 (R237G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096420	NM_001454.4(FOXJ1):c.682G>T (p.Ala228Ser)	FOXJ1 (A228S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096419	NM_001454.4(FOXJ1):c.625G>A (p.Ala209Thr)	FOXJ1 (A209T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096418	NM_001454.4(FOXJ1):c.586C>T (p.Arg196Cys)	FOXJ1 (R196C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1242567	NM_001454.4(FOXJ1):c.499-124dup	FOXJ1	Duplication (intron variant)	not provided	GBenign
Select item 2664712	NM_001454.4(FOXJ1):c.403C>G (p.Gln135Glu)	FOXJ1 (Q135E)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 43	GUncertain significance
Select item 3055097	NM_001454.4(FOXJ1):c.331G>A (p.Asp111Asn)	FOXJ1 (D111N)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GLikely benign
Select item 2263060	NM_001454.4(FOXJ1):c.289T>G (p.Ser97Ala)	FOXJ1, LOC130061707 (S97A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038132	NM_001454.4(FOXJ1):c.279G>A (p.Ser93=)	FOXJ1, LOC130061707	Single nucleotide variant (synonymous variant)	FOXJ1-related disorder	GLikely benign
Select item 2791847	NM_001454.4(FOXJ1):c.269A>G (p.Lys90Arg)	FOXJ1, LOC130061707 (K90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249317	NM_001454.4(FOXJ1):c.233A>C (p.Asp78Ala)	FOXJ1, LOC130061707 (D78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049566	NM_001454.4(FOXJ1):c.222C>A (p.Pro74=)	FOXJ1, LOC130061707	Single nucleotide variant (synonymous variant)	FOXJ1-related disorder	GLikely benign
Select item 3096417	NM_001454.4(FOXJ1):c.146C>T (p.Ala49Val)	FOXJ1, LOC130061707 (A49V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648300	NM_001454.4(FOXJ1):c.52G>A (p.Gly18Arg)	FOXJ1, LOC130061708 (G18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236044	NM_001454.4(FOXJ1):c.-169-173G>C	FOXJ1, RNF157-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2684857	GRCh37/hg19 17q25.1(chr17:74056941-74313663)x3	EXOC7, FOXJ1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CDK3, PRCD +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253996	GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3	SRP68, TRIM65 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 68