ClinVar for MedGen (Select 416607) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2500234	NM_003924.4(PHOX2B):c.745_746insGGCGGCCGCGGC (p.Ala249delinsGlyArgProArgPro)	LOC110011216, PHOX2B	Insertion (inframe_indel)	Neuroblastoma, susceptibility to, 2 +1 more	GLikely pathogenic
Select item 2500070	NM_003924.4(PHOX2B):c.775_776insGGCGGCAGCGGCAGCGGCGGC (p.Ala259delinsGlyArgGlnArgGlnArgArgPro)	LOC110011216, PHOX2B	Insertion (inframe_indel)	Neuroblastoma, susceptibility to, 2 +1 more	GPathogenic
Select item 2500068	NM_003924.4(PHOX2B):c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)	PHOX2B	Insertion (inframe_indel)	Neuroblastoma, susceptibility to, 2 +1 more	GPathogenic
Select item 2186948	NM_003924.4(PHOX2B):c.745G>T (p.Ala249Ser)	LOC110011216, PHOX2B (A249S)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	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 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 1756315	NM_003924.4(PHOX2B):c.695C>G (p.Pro232Arg)	PHOX2B (P232R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 1515387	NM_003924.4(PHOX2B):c.241+1G>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant (splice donor variant)	PHOX2B-related disorder +2 more	GLikely pathogenic
Select item 1407735	NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser)	PHOX2B (A159S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
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 1032169	NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)	PHOX2B	Single nucleotide variant (stop lost)	Neuroblastoma, susceptibility to, 2	GPathogenic
Select item 987239	NM_003924.4(PHOX2B):c.866dup (p.Pro290fs)	PHOX2B (P290fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
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 970007	NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu)	PHOX2B (P200L)	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)	Hereditary cancer-predisposing syndrome +3 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 +1 more	GUncertain significance
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 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 902755	NM_003924.3(PHOX2B):c.-159C>T	PHOX2B, PHOX2B-AS1	Single nucleotide variant	Congenital central hypoventilation +1 more	GUncertain significance
Select item 902754	NM_003924.4(PHOX2B):c.-105G>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant (5 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 901843	NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)	PHOX2B, PHOX2B-AS1 (A79T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
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 901291	NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +4 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 855775	NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)	PHOX2B (P279L)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 826441	NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del)	PHOX2B	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 825967	NM_003924.4(PHOX2B):c.577G>C (p.Asp193His)	PHOX2B (D193H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing 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 651541	NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr)	PHOX2B (N302Y)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 646058	NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup)	PHOX2B	Microsatellite (inframe_insertion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 640568	NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)	PHOX2B (S311N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 620600	NM_003924.4(PHOX2B):c.556G>A (p.Glu186Lys)	PHOX2B (E186K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 535774	NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)	PHOX2B (P284R)	Single nucleotide variant (missense variant)	Congenital central hypoventilation +3 more	GUncertain significance
Select item 486031	NM_003924.4(PHOX2B):c.486C>T (p.Ala162=)	PHOX2B	Single nucleotide variant (synonymous variant)	Congenital central hypoventilation +3 more	GBenign/Likely benign
Select item 486030	NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	PHOX2B, PHOX2B-AS1 (S76T)	Single nucleotide variant (missense variant)	PHOX2B-related disorder +5 more	GConflicting classifications of pathogenicity
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 467751	NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3])	PHOX2B	Microsatellite (inframe_insertion)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 467731	NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly)	PHOX2B-AS1, PHOX2B (A19G)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 467725	NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)	PHOX2B (L131V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 467719	NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)	PHOX2B, PHOX2B-AS1 (T49N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 452239	NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)	LOC110011216, PHOX2B	Duplication (inframe_insertion)	not provided +3 more	GPathogenic
Select item 413923	NM_003924.4(PHOX2B):c.642C>T (p.Gly214=)	PHOX2B	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 2 +3 more	GBenign/Likely benign
Select item 406409	NM_003924.4(PHOX2B):c.730G>C (p.Ala244Pro)	LOC110011216, PHOX2B (A244P)	Single nucleotide variant (missense variant)	Haddad syndrome +2 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 406402	NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr)	PHOX2B (P224T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 348813	NM_003924.3(PHOX2B):c.-265G>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348812	NM_003924.3(PHOX2B):c.-210C>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348811	NM_003924.3(PHOX2B):c.-195G>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348810	NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +3 more	GConflicting classifications of pathogenicity
Select item 348809	NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)	LOC110011216, PHOX2B (A258E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 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 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 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 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 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 348801	NM_003924.4(PHOX2B):c.*161G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 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 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 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 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 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 348792	NM_003924.4(PHOX2B):c.*1126C>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
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 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 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 348788	NM_003924.4(PHOX2B):c.*1347A>G	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 348786	NM_003924.4(PHOX2B):c.*1381C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
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 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 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 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 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 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 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 239596	NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)	PHOX2B (G278S)	Single nucleotide variant (missense variant)	Congenital central hypoventilation +5 more	GConflicting classifications of pathogenicity
Select item 239595	NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 239594	NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	LOC110011216, PHOX2B (A254T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 239592	NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 2 +5 more	GBenign/Likely benign
Select item 239588	NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +5 more	GBenign/Likely benign
Select item 239587	NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)	PHOX2B-AS1, PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 227845	NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 227016	NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	not provided +5 more	GBenign/Likely benign
Select item 227015	NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)	PHOX2B	Single nucleotide variant (synonymous variant)	Congenital central hypoventilation +5 more	GBenign
Select item 227014	NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 164944	NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 164943	NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)	PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign

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