C2751682[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1384636	NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly)	PHOX2B (S312G)	Single nucleotide variant (missense variant)	Haddad syndrome +3 more	GUncertain significance
Select item 640568	NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)	PHOX2B (S311N)	Single nucleotide variant (missense variant)	Haddad 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)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 535777	NM_003924.4(PHOX2B):c.917C>A (p.Ala306Asp)	PHOX2B (A306D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 651541	NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr)	PHOX2B (N302Y)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 3240116	NM_003924.4(PHOX2B):c.880G>A (p.Val294Ile)	PHOX2B (V294I)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2	GUncertain significance
Select item 2134951	NM_003924.4(PHOX2B):c.872T>A (p.Phe291Tyr)	PHOX2B (F291Y)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 467751	NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3])	PHOX2B	Microsatellite (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 855775	NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)	PHOX2B (P279L)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 2089165	NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)	PHOX2B	Insertion (inframe_insertion)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 135035	NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)	PHOX2B (G276S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +3 more	GUncertain significance
Select item 467748	NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)	PHOX2B (A266S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 664519	NM_003924.4(PHOX2B):c.793G>A (p.Ala265Thr)	PHOX2B (A265T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2561575	NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro)	PHOX2B (A260P)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 1346897	NM_003924.4(PHOX2B):c.770C>T (p.Ala257Val)	LOC110011216, PHOX2B (A257V)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 3240118	NM_003924.4(PHOX2B):c.767C>T (p.Ala256Val)	LOC110011216, PHOX2B (A256V)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2	GUncertain significance
Select item 952953	NM_003924.4(PHOX2B):c.746C>T (p.Ala249Val)	LOC110011216, PHOX2B (A249V)	Single nucleotide variant (missense variant)	Haddad syndrome +3 more	GUncertain significance
Select item 2186948	NM_003924.4(PHOX2B):c.745G>T (p.Ala249Ser)	LOC110011216, PHOX2B (A249S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2621280	NM_003924.4(PHOX2B):c.742G>A (p.Ala248Thr)	LOC110011216, PHOX2B (A248T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 406409	NM_003924.4(PHOX2B):c.730G>C (p.Ala244Pro)	LOC110011216, PHOX2B (A244P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2677755	NM_003924.4(PHOX2B):c.712A>T (p.Lys238Ter)	PHOX2B (K238*)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 2	GLikely pathogenic
Select item 1756315	NM_003924.4(PHOX2B):c.695C>G (p.Pro232Arg)	PHOX2B (P232R)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 970177	NM_003924.4(PHOX2B):c.694C>G (p.Pro232Ala)	PHOX2B (P232A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 486033	NM_003924.4(PHOX2B):c.694C>A (p.Pro232Thr)	PHOX2B (P232T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 486029	NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val)	PHOX2B (G228V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 406402	NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr)	PHOX2B (P224T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +3 more	GUncertain significance
Select item 826441	NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del)	PHOX2B	Deletion (inframe_deletion)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 948497	NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)	PHOX2B (G217R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 3240115	NM_003924.4(PHOX2B):c.625G>A (p.Gly209Arg)	PHOX2B (G209R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2	GUncertain significance
Select item 135034	NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)	PHOX2B (P206R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 2625347	NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)	PHOX2B (T205S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 2677753	NM_003924.4(PHOX2B):c.611C>A (p.Pro204His)	PHOX2B (P204H)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2	GUncertain significance
Select item 574119	NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala)	PHOX2B (P204A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 825967	NM_003924.4(PHOX2B):c.577G>C (p.Asp193His)	PHOX2B (D193H)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 3240113	NM_003924.4(PHOX2B):c.562A>C (p.Lys188Gln)	PHOX2B (K188Q)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2	GUncertain significance
Select item 860941	NM_003924.4(PHOX2B):c.550A>G (p.Ser184Gly)	PHOX2B (S184G)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 959613	NM_003924.4(PHOX2B):c.499G>A (p.Ala167Thr)	PHOX2B (A167T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 844482	NM_003924.4(PHOX2B):c.497C>A (p.Ala166Glu)	PHOX2B (A166E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1407735	NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser)	PHOX2B (A159S)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 824504	NM_003924.4(PHOX2B):c.401A>G (p.Lys134Arg)	PHOX2B (K134R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 467725	NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)	PHOX2B (L131V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2677754	NM_003924.4(PHOX2B):c.373A>C (p.Ile125Leu)	PHOX2B (I125L)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2	GUncertain significance
Select item 3240117	NM_003924.4(PHOX2B):c.280G>A (p.Glu94Lys)	PHOX2B (E94K)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2	GUncertain significance
Select item 963893	NM_003924.4(PHOX2B):c.279C>G (p.Asn93Lys)	PHOX2B (N93K)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 978535	NM_003924.4(PHOX2B):c.275T>C (p.Leu92Pro)	PHOX2B (L92P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 962006	NM_003924.4(PHOX2B):c.251A>G (p.Lys84Arg)	PHOX2B (K84R)	Single nucleotide variant (missense variant)	Haddad syndrome +3 more	GUncertain significance
Select item 406405	NM_003924.4(PHOX2B):c.242-5_242-2dup	PHOX2B	Duplication (splice acceptor variant)	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease +2 more	GUncertain significance
Select item 1515387	NM_003924.4(PHOX2B):c.241+1G>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant (splice donor variant)	Haddad syndrome +1 more	GLikely pathogenic
Select item 486030	NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	PHOX2B, PHOX2B-AS1 (S76T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 820907	NM_003924.4(PHOX2B):c.222G>T (p.Gln74His)	PHOX2B, PHOX2B-AS1 (Q74H)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 3240114	NM_003924.4(PHOX2B):c.153T>G (p.Phe51Leu)	PHOX2B, PHOX2B-AS1 (F51L)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuroblastoma, susceptibility to, 2	GUncertain significance
Select item 467719	NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)	PHOX2B, PHOX2B-AS1 (T49N)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 467731	NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly)	PHOX2B, PHOX2B-AS1 (A19G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1392284	NM_003924.4(PHOX2B):c.26T>A (p.Leu9His)	PHOX2B, PHOX2B-AS1 (L9H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 55