ClinVar for Gene (Select 8929) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234453	NM_003924.4(PHOX2B):c.729_764del (p.Ala249_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3223606	NM_003924.4(PHOX2B):c.921C>T (p.Ala307=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223605	NM_003924.4(PHOX2B):c.888T>G (p.Ser296=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223604	NM_003924.4(PHOX2B):c.883C>T (p.Leu295=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223603	NM_003924.4(PHOX2B):c.863G>C (p.Gly288Ala)	PHOX2B (G288A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223602	NM_003924.4(PHOX2B):c.830C>G (p.Pro277Arg)	PHOX2B (P277R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223601	NM_003924.4(PHOX2B):c.810A>C (p.Gly270=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223600	NM_003924.4(PHOX2B):c.810_813delinsCTGC (p.Gln271Cys)	PHOX2B (Q271C)	Indel (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223599	NM_003924.4(PHOX2B):c.768A>C (p.Ala256=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223598	NM_003924.4(PHOX2B):c.764C>A (p.Ala255Glu)	LOC110011216, PHOX2B (A255E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223597	NM_003924.4(PHOX2B):c.734C>G (p.Ala245Gly)	LOC110011216, PHOX2B (A245G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223596	NM_003924.4(PHOX2B):c.718G>C (p.Gly240Arg)	PHOX2B (G240R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223595	NM_003924.4(PHOX2B):c.682G>C (p.Gly228Arg)	PHOX2B (G228R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223594	NM_003924.4(PHOX2B):c.660G>C (p.Pro220=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223593	NM_003924.4(PHOX2B):c.658C>T (p.Pro220Ser)	PHOX2B (P220S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223592	NM_003924.4(PHOX2B):c.63G>A (p.Met21Ile)	PHOX2B, PHOX2B-AS1 (M21I)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223591	NM_003924.4(PHOX2B):c.614C>T (p.Thr205Ile)	PHOX2B (T205I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223590	NM_003924.4(PHOX2B):c.604C>G (p.Pro202Ala)	PHOX2B (P202A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223589	NM_003924.4(PHOX2B):c.582C>A (p.Ser194Arg)	PHOX2B (S194R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223588	NM_003924.4(PHOX2B):c.571G>C (p.Asp191His)	PHOX2B (D191H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223587	NM_003924.4(PHOX2B):c.466C>G (p.Gln156Glu)	PHOX2B (Q156E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223586	NM_003924.4(PHOX2B):c.406G>C (p.Asp136His)	PHOX2B (D136H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223585	NM_003924.4(PHOX2B):c.322G>A (p.Ala108Thr)	PHOX2B (A108T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223584	NM_003924.4(PHOX2B):c.287G>T (p.Arg96Leu)	PHOX2B (R96L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223583	NM_003924.4(PHOX2B):c.286C>T (p.Arg96Cys)	PHOX2B (R96C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223582	NM_003924.4(PHOX2B):c.251A>C (p.Lys84Thr)	PHOX2B (K84T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223581	NM_003924.4(PHOX2B):c.199C>T (p.Leu67=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223580	NM_003924.4(PHOX2B):c.196del (p.Ser66fs)	PHOX2B, PHOX2B-AS1 (S66fs)	Deletion (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3223579	NM_003924.4(PHOX2B):c.121G>T (p.Gly41Cys)	PHOX2B, PHOX2B-AS1 (G41C)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3212391	NM_003924.4(PHOX2B):c.470A>G (p.Glu157Gly)	PHOX2B (E157G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3212390	NM_003924.4(PHOX2B):c.181A>T (p.Thr61Ser)	PHOX2B, PHOX2B-AS1 (T61S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3066323	NM_003924.4(PHOX2B):c.344_347dup (p.Phe117fs)	PHOX2B (F117fs)	Duplication (frameshift variant)	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	GLikely pathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3058206	NM_003924.4(PHOX2B):c.419C>G (p.Ala140Gly)	PHOX2B (A140G)	Single nucleotide variant (missense variant)	PHOX2B-related disorder	GUncertain significance
Select item 3023613	NM_003924.4(PHOX2B):c.139A>G (p.Ile47Val)	PHOX2B, PHOX2B-AS1 (I47V)	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome	GUncertain significance
Select item 3021927	NM_003924.4(PHOX2B):c.815G>C (p.Gly272Ala)	PHOX2B (G272A)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 3018208	NM_003924.4(PHOX2B):c.102T>C (p.Ser34=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome	GLikely benign
Select item 2997666	NM_003924.4(PHOX2B):c.848T>C (p.Ile283Thr)	PHOX2B (I283T)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 2997473	NM_003924.4(PHOX2B):c.717C>G (p.Gly239=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2996169	NM_003924.4(PHOX2B):c.825C>A (p.Pro275=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2974653	NM_003924.4(PHOX2B):c.242-20T>A	PHOX2B	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
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 2958929	NM_003924.4(PHOX2B):c.330C>G (p.Leu110=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2918147	NM_003924.4(PHOX2B):c.492G>A (p.Ala164=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2916128	NM_003924.4(PHOX2B):c.430-18C>T	PHOX2B	Single nucleotide variant (intron variant)	Haddad 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 2903093	NM_003924.4(PHOX2B):c.840C>A (p.Ile280=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2899284	NM_003924.4(PHOX2B):c.429+8C>T	PHOX2B	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 2898258	NM_003924.4(PHOX2B):c.777A>G (p.Ala259=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2895832	NM_003924.4(PHOX2B):c.161C>T (p.Thr54Met)	PHOX2B, PHOX2B-AS1 (T54M)	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome	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 2888827	NM_003924.4(PHOX2B):c.620G>T (p.Ser207Ile)	PHOX2B (S207I)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2882916	NM_003924.4(PHOX2B):c.241+12C>T	PHOX2B, PHOX2B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome	GLikely benign
Select item 2867615	NM_003924.4(PHOX2B):c.545A>G (p.Asp182Gly)	PHOX2B (D182G)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2863250	NM_003924.4(PHOX2B):c.772G>A (p.Ala258Thr)	LOC110011216, PHOX2B (A258T)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2862425	NM_003924.4(PHOX2B):c.658C>A (p.Pro220Thr)	PHOX2B (P220T)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2857550	NM_003924.4(PHOX2B):c.509G>A (p.Gly170Asp)	PHOX2B (G170D)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2857522	NM_003924.4(PHOX2B):c.107G>A (p.Cys36Tyr)	PHOX2B-AS1, PHOX2B (C36Y)	Single nucleotide variant (missense variant +1 more)	Haddad syndrome	GUncertain significance
Select item 2851099	NM_003924.4(PHOX2B):c.195C>A (p.Cys65Ter)	PHOX2B, PHOX2B-AS1 (C65*)	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome	GPathogenic
Select item 2848863	NM_003924.4(PHOX2B):c.241+13A>C	PHOX2B, PHOX2B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome	GLikely benign
Select item 2847869	NM_003924.4(PHOX2B):c.348C>G (p.Val116=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2846183	NM_003924.4(PHOX2B):c.479_480dup (p.Ala161fs)	PHOX2B (A161fs)	Duplication (frameshift variant)	Haddad syndrome	GPathogenic
Select item 2843237	NM_003924.4(PHOX2B):c.641G>T (p.Gly214Val)	PHOX2B (G214V)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2839769	NM_003924.4(PHOX2B):c.523A>C (p.Lys175Gln)	PHOX2B (K175Q)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2839105	NM_003924.4(PHOX2B):c.628G>C (p.Ala210Pro)	PHOX2B (A210P)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 2838750	NM_003924.4(PHOX2B):c.155G>A (p.Gly52Glu)	PHOX2B, PHOX2B-AS1 (G52E)	Single nucleotide variant (missense variant +1 more)	Haddad syndrome	GUncertain significance
Select item 2837400	NM_003924.4(PHOX2B):c.862G>A (p.Gly288Arg)	PHOX2B (G288R)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2834036	NM_003924.4(PHOX2B):c.270C>A (p.Gly90=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2831033	NM_003924.4(PHOX2B):c.512C>T (p.Ser171Phe)	PHOX2B (S171F)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 2829387	NM_003924.4(PHOX2B):c.593C>A (p.Pro198Gln)	PHOX2B (P198Q)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2819972	NM_003924.4(PHOX2B):c.696G>T (p.Pro232=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2814033	NM_003924.4(PHOX2B):c.242-12G>A	PHOX2B	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 2810086	NM_003924.4(PHOX2B):c.801G>C (p.Gly267=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2798337	NM_003924.4(PHOX2B):c.18_19delinsAA	PHOX2B	Indel (3 prime UTR variant)	Haddad syndrome	GUncertain significance
Select item 2797241	NM_003924.4(PHOX2B):c.695C>T (p.Pro232Leu)	PHOX2B (P232L)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2788582	NM_003924.4(PHOX2B):c.242-18T>C	PHOX2B	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 2783284	NM_003924.4(PHOX2B):c.426C>A (p.Val142=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2781757	NM_003924.4(PHOX2B):c.268G>A (p.Gly90Ser)	PHOX2B (G90S)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2778902	NM_003924.4(PHOX2B):c.673G>C (p.Gly225Arg)	PHOX2B (G225R)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
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 2771497	NM_003924.4(PHOX2B):c.619A>G (p.Ser207Gly)	PHOX2B (S207G)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2762762	NM_003924.4(PHOX2B):c.145A>T (p.Thr49Ser)	PHOX2B, PHOX2B-AS1 (T49S)	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome +1 more	GUncertain significance
Select item 2762070	NM_003924.4(PHOX2B):c.797C>G (p.Ala266Gly)	PHOX2B (A266G)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2761047	NM_003924.4(PHOX2B):c.721G>C (p.Ala241Pro)	PHOX2B (A241P)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2759004	NM_003924.4(PHOX2B):c.837C>T (p.Pro279=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2758676	NM_003924.4(PHOX2B):c.268G>T (p.Gly90Cys)	PHOX2B (G90C)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2758430	NM_003924.4(PHOX2B):c.698G>C (p.Gly233Ala)	PHOX2B (G233A)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2748928	NM_003924.4(PHOX2B):c.331A>C (p.Lys111Gln)	PHOX2B (K111Q)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2744562	NM_003924.4(PHOX2B):c.279C>T (p.Asn93=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2743180	NM_003924.4(PHOX2B):c.241+19del	PHOX2B, PHOX2B-AS1	Deletion (non-coding transcript variant +1 more)	Haddad syndrome	GLikely benign
Select item 2741293	NM_003924.4(PHOX2B):c.735G>C (p.Ala245=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
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 2739698	NM_003924.4(PHOX2B):c.483_494del (p.Ala164_Ala167del)	PHOX2B	Deletion (inframe_deletion)	Haddad syndrome	GUncertain significance
Select item 2738706	NM_003924.4(PHOX2B):c.429+19C>A	PHOX2B	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 2736232	NM_003924.4(PHOX2B):c.194G>T (p.Cys65Phe)	PHOX2B, PHOX2B-AS1 (C65F)	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome	GUncertain significance
Select item 2735922	NM_003924.4(PHOX2B):c.241+4A>G	PHOX2B, PHOX2B-AS1	Single nucleotide variant (intron variant +1 more)	Haddad syndrome	GUncertain significance
Select item 2730631	NM_003924.4(PHOX2B):c.475G>A (p.Ala159Thr)	PHOX2B (A159T)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2727578	NM_003924.4(PHOX2B):c.567C>G (p.Ser189Arg)	PHOX2B (S189R)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2725607	NM_003924.4(PHOX2B):c.788T>G (p.Leu263Arg)	PHOX2B (L263R)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2693968	NM_003924.4(PHOX2B):c.903C>T (p.Pro301=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign

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