PHOX2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 more	Copy number gain	See cases	GPathogenic
Select item 348779	NM_003924.4(PHOX2B):c.*1701A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348780	NM_003924.4(PHOX2B):c.*1662A>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 348781	NM_003924.4(PHOX2B):c.*1644A>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348782	NM_003924.4(PHOX2B):c.*1627G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 903594	NM_003924.4(PHOX2B):c.*1582T>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348783	NM_003924.4(PHOX2B):c.*1486T>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348784	NM_003924.4(PHOX2B):c.*1401C>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348785	NM_003924.4(PHOX2B):c.*1387C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348786	NM_003924.4(PHOX2B):c.*1381C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348787	NM_003924.4(PHOX2B):c.*1364G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348788	NM_003924.4(PHOX2B):c.*1347A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 901161	NM_003924.4(PHOX2B):c.*1345G>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 901162	NM_003924.4(PHOX2B):c.*1334G>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348789	NM_003924.4(PHOX2B):c.*1310G>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348790	NM_003924.4(PHOX2B):c.*1269A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348791	NM_003924.4(PHOX2B):c.*1156C>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348792	NM_003924.4(PHOX2B):c.*1126C>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 901710	NM_003924.4(PHOX2B):c.*838A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 903659	NM_003924.4(PHOX2B):c.*789G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348793	NM_003924.4(PHOX2B):c.*737C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348794	NM_003924.4(PHOX2B):c.*693C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 900066	NM_003924.4(PHOX2B):c.*680C>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348795	NM_003924.4(PHOX2B):c.*674dup	PHOX2B	Duplication (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348796	NM_003924.4(PHOX2B):c.*638G>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348797	NM_003924.4(PHOX2B):c.*600T>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 348799	NM_003924.4(PHOX2B):c.*550G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 348798	NM_003924.4(PHOX2B):c.*549dup	PHOX2B	Duplication (3 prime UTR variant)	Congenital central hypoventilation +1 more	GLikely benign
Select item 900067	NM_003924.4(PHOX2B):c.*301C>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 901222	NM_003924.4(PHOX2B):c.*278T>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 901223	NM_003924.4(PHOX2B):c.*214A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348800	NM_003924.4(PHOX2B):c.*194C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 901224	NM_003924.4(PHOX2B):c.*161G>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348801	NM_003924.4(PHOX2B):c.*161G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +2 more	GBenign
Select item 348802	NM_003924.4(PHOX2B):c.*80G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 348803	NM_003924.4(PHOX2B):c.*60G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GConflicting classifications of pathogenicity
Select item 348804	NM_003924.4(PHOX2B):c.*58G>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348805	NM_003924.4(PHOX2B):c.*12GCG[8]	PHOX2B	Microsatellite (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348806	NM_003924.4(PHOX2B):c.*12GCG[4]	PHOX2B	Microsatellite (3 prime UTR variant)	Congenital central hypoventilation +2 more	GBenign/Likely benign
Select item 2798337	NM_003924.4(PHOX2B):c.18_19delinsAA	PHOX2B	Indel (3 prime UTR variant)	Haddad syndrome	GUncertain significance
Select item 348807	NM_003924.4(PHOX2B):c.*19C>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GConflicting classifications of pathogenicity
Select item 348808	NM_003924.4(PHOX2B):c.*18G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GConflicting classifications of pathogenicity
Select item 1032169	NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)	PHOX2B	Single nucleotide variant (stop lost)	Neuroblastoma, susceptibility to, 2	GPathogenic
Select item 521682	NM_003924.4(PHOX2B):c.945A>G (p.Ter315Trp)	PHOX2B	Single nucleotide variant (stop lost)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 467753	NM_003924.4(PHOX2B):c.942C>T (p.Phe314=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1715384	NM_003924.4(PHOX2B):c.940T>G (p.Phe314Val)	PHOX2B (F314V)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 849307	NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu)	PHOX2B (F314L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2971789	NM_003924.4(PHOX2B):c.938T>C (p.Met313Thr)	PHOX2B (M313T)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1766773	NM_003924.4(PHOX2B):c.938T>A (p.Met313Lys)	PHOX2B (M313K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 575827	NM_003924.4(PHOX2B):c.937A>G (p.Met313Val)	PHOX2B (M313V)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1766546	NM_003924.4(PHOX2B):c.931_935del (p.Ser311fs)	PHOX2B (S311fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1384636	NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly)	PHOX2B (S312G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2894864	NM_003924.4(PHOX2B):c.933C>G (p.Ser311Arg)	PHOX2B (S311R)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1692750	NM_003924.4(PHOX2B):c.933C>T (p.Ser311=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GConflicting classifications of pathogenicity
Select item 640568	NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)	PHOX2B (S311N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 467752	NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg)	PHOX2B (K310R)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 1105929	NM_003924.4(PHOX2B):c.927G>A (p.Val309=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 2773004	NM_003924.4(PHOX2B):c.926T>A (p.Val309Glu)	PHOX2B (V309E)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2561573	NM_003924.4(PHOX2B):c.926T>C (p.Val309Ala)	PHOX2B (V309A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 859176	NM_003924.4(PHOX2B):c.925G>A (p.Val309Met)	PHOX2B (V309M)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 665439	NM_003924.4(PHOX2B):c.925G>C (p.Val309Leu)	PHOX2B (V309L)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 795619	NM_003924.4(PHOX2B):c.924A>G (p.Leu308=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2563108	NM_003924.4(PHOX2B):c.922T>C (p.Leu308=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 697446	NM_003924.4(PHOX2B):c.921C>G (p.Ala307=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 572812	NM_003924.4(PHOX2B):c.920C>T (p.Ala307Val)	PHOX2B (A307V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1365793	NM_003924.4(PHOX2B):c.919G>A (p.Ala307Thr)	PHOX2B (A307T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1046870	NM_003924.4(PHOX2B):c.919G>T (p.Ala307Ser)	PHOX2B (A307S)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 1983779	NM_003924.4(PHOX2B):c.918C>T (p.Ala306=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 823073	NM_003924.4(PHOX2B):c.918C>A (p.Ala306=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 535777	NM_003924.4(PHOX2B):c.917C>A (p.Ala306Asp)	PHOX2B (A306D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2563106	NM_003924.4(PHOX2B):c.914A>C (p.Lys305Thr)	PHOX2B (K305T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1395142	NM_003924.4(PHOX2B):c.911C>A (p.Ala304Asp)	PHOX2B (A304D)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1765773	NM_003924.4(PHOX2B):c.909T>C (p.Gly303=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1765704	NM_003924.4(PHOX2B):c.907G>A (p.Gly303Ser)	PHOX2B (G303S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 486038	NM_003924.4(PHOX2B):c.907G>C (p.Gly303Arg)	PHOX2B (G303R)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 1765653	NM_003924.4(PHOX2B):c.906C>T (p.Asn302=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1405075	NM_003924.4(PHOX2B):c.906C>G (p.Asn302Lys)	PHOX2B (N302K)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1014797	NM_003924.4(PHOX2B):c.906C>A (p.Asn302Lys)	PHOX2B (N302K)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 822948	NM_003924.4(PHOX2B):c.905A>C (p.Asn302Thr)	PHOX2B (N302T)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 535771	NM_003924.4(PHOX2B):c.905A>G (p.Asn302Ser)	PHOX2B (N302S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 651541	NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr)	PHOX2B (N302Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2693968	NM_003924.4(PHOX2B):c.903C>T (p.Pro301=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 1765556	NM_003924.4(PHOX2B):c.903C>G (p.Pro301=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1462111	NM_003924.4(PHOX2B):c.898A>T (p.Arg300Ter)	PHOX2B (R300*)	Single nucleotide variant (nonsense)	Haddad syndrome	GUncertain significance
Select item 2740838	NM_003924.4(PHOX2B):c.896A>G (p.Gln299Arg)	PHOX2B (Q299R)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1765214	NM_003924.4(PHOX2B):c.894C>T (p.Leu298=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2908173	NM_003924.4(PHOX2B):c.891G>A (p.Ser297=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2563110	NM_003924.4(PHOX2B):c.891G>T (p.Ser297=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1148966	NM_003924.4(PHOX2B):c.891G>C (p.Ser297=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 1498995	NM_003924.4(PHOX2B):c.890C>T (p.Ser297Leu)	PHOX2B (S297L)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1764997	NM_003924.4(PHOX2B):c.888T>C (p.Ser296=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 535788	NM_003924.4(PHOX2B):c.885A>G (p.Leu295=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1764879	NM_003924.4(PHOX2B):c.884T>C (p.Leu295Pro)	PHOX2B (L295P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1764794	NM_003924.4(PHOX2B):c.882C>T (p.Val294=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2434703	NM_003924.4(PHOX2B):c.881T>A (p.Val294Asp)	PHOX2B (V294D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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