PHOX2A[gene] - ClinVar

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

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 2407523	NM_005169.4(PHOX2A):c.845A>G (p.Asn282Ser)	PHOX2A (N282S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308565	NM_005169.4(PHOX2A):c.833C>A (p.Ala278Asp)	PHOX2A (A278D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797504	NM_005169.4(PHOX2A):c.822G>A (p.Lys274=)	PHOX2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632350	NM_005169.4(PHOX2A):c.697G>A (p.Ala233Thr)	LOC130006329, PHOX2A (A233T +2 more)	Single nucleotide variant (missense variant)	PHOX2A-related disorder	GUncertain significance
Select item 2635864	NM_005169.4(PHOX2A):c.689C>T (p.Ala230Val)	PHOX2A, LOC130006329 (A230V +2 more)	Single nucleotide variant (missense variant)	PHOX2A-related disorder	GUncertain significance
Select item 3346067	NM_005169.4(PHOX2A):c.674A>T (p.Gln225Leu)	LOC130006329, PHOX2A (Q225L +2 more)	Single nucleotide variant (missense variant +1 more)	PHOX2A-related disorder	GUncertain significance
Select item 2249408	NM_005169.4(PHOX2A):c.595G>A (p.Gly199Ser)	LOC130006329, PHOX2A (G199S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758950	NM_005169.4(PHOX2A):c.537G>A (p.Glu179=)	PHOX2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455710	NM_005169.4(PHOX2A):c.525C>A (p.Asp175Glu)	PHOX2A (D175E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531228	NM_005169.4(PHOX2A):c.509G>A (p.Cys170Tyr)	PHOX2A (C170Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212389	NM_005169.4(PHOX2A):c.505C>T (p.Arg169Cys)	PHOX2A (R177C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768464	NM_005169.4(PHOX2A):c.471GGCGGGCGC[1] (p.158AGA[1])	PHOX2A	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 3212388	NM_005169.4(PHOX2A):c.473C>A (p.Ala158Glu)	PHOX2A (A158E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325552	NM_005169.4(PHOX2A):c.455C>G (p.Ala152Gly)	PHOX2A (A152G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212387	NM_005169.4(PHOX2A):c.446A>G (p.Glu149Gly)	PHOX2A (E157G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 6839	NM_005169.4(PHOX2A):c.406-1G>A	PHOX2A	Single nucleotide variant (splice acceptor variant)	Fibrosis of extraocular muscles, congenital, 2	GPathogenic
Select item 3306264	NM_005169.4(PHOX2A):c.356C>T (p.Thr119Met)	PHOX2A (T119M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235509	NM_005169.4(PHOX2A):c.256G>C (p.Glu86Gln)	PHOX2A (E86Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259656	NM_005169.4(PHOX2A):c.217+19C>A	PHOX2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 6838	NM_005169.4(PHOX2A):c.217+1G>A	PHOX2A	Single nucleotide variant (splice donor variant)	Fibrosis of extraocular muscles, congenital, 2	GPathogenic
Select item 6840	NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val)	PHOX2A (A72V)	Single nucleotide variant (missense variant)	Fibrosis of extraocular muscles, congenital, 2	GUncertain significance
Select item 3349196	NM_005169.4(PHOX2A):c.202G>A (p.Ala68Thr)	PHOX2A (A68T)	Single nucleotide variant (missense variant)	PHOX2A-related disorder	GUncertain significance
Select item 2272413	NM_005169.4(PHOX2A):c.202G>C (p.Ala68Pro)	PHOX2A (A68P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259655	NM_005169.4(PHOX2A):c.156C>T (p.Leu52=)	PHOX2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3257042	NM_005169.4(PHOX2A):c.150C>T (p.Pro50=)	PHOX2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728192	NM_005169.4(PHOX2A):c.111C>G (p.Pro37=)	PHOX2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259654	NM_005169.4(PHOX2A):c.-19G>A	PHOX2A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2426313	NC_000011.9:g.(?_71903218)_(72019668_?)del	CLPB, FOLR1 +3 more	Deletion	Cerebral folate transport deficiency	GPathogenic
Select item 1808063	GRCh37/hg19 11q13.4(chr11:71777538-72144933)x3	ANAPC15, CLPB +8 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527647	GRCh37/hg19 11q13.4(chr11:71567724-72488649)	ANAPC15, ARAP1 +15 more	Copy number loss	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40