ClinVar for MedGen (Select 347052) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Hereditary cancer-predisposing 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)	Hereditary cancer-predisposing syndrome +1 more	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 +1 more	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, PHOX2B-AS1 (C36Y)	Single nucleotide variant (non-coding transcript 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 (non-coding transcript 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)	Hereditary cancer-predisposing 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 (non-coding transcript 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)	Hereditary cancer-predisposing syndrome +1 more	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
Select item 2693152	NM_003924.4(PHOX2B):c.430-19T>C	PHOX2B	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 2692681	NM_003924.4(PHOX2B):c.143G>C (p.Arg48Thr)	PHOX2B, PHOX2B-AS1 (R48T)	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome	GUncertain significance
Select item 2625356	NM_003924.4(PHOX2B):c.761C>T (p.Ala254Val)	LOC110011216, PHOX2B (A254V)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 2625350	NM_003924.4(PHOX2B):c.222G>A (p.Gln74=)	PHOX2B-AS1, PHOX2B	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome +1 more	GLikely benign
Select item 2625346	NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter)	PHOX2B, PHOX2B-AS1 (Y14*)	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2563112	NM_003924.4(PHOX2B):c.753G>A (p.Ala251=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2563104	NM_003924.4(PHOX2B):c.97T>A (p.Phe33Ile)	PHOX2B, PHOX2B-AS1 (F33I)	Single nucleotide variant (missense variant)	Haddad syndrome +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 2496877	NM_003924.4(PHOX2B):c.346G>A (p.Val116Ile)	PHOX2B (V116I)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 2448124	NM_003924.4(PHOX2B):c.189A>C (p.Gly63=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2416110	NM_003924.4(PHOX2B):c.353C>T (p.Ala118Val)	PHOX2B (A118V)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2201198	NM_003924.4(PHOX2B):c.538A>T (p.Arg180Trp)	PHOX2B (R180W)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2200958	NM_003924.4(PHOX2B):c.652C>T (p.Pro218Ser)	PHOX2B (P218S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2198549	NM_003924.4(PHOX2B):c.379A>T (p.Thr127Ser)	PHOX2B (T127S)	Single nucleotide variant (missense variant)	Haddad syndrome +1 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 2182707	NM_003924.4(PHOX2B):c.429+19del	PHOX2B	Deletion (intron variant)	Haddad syndrome	GLikely benign
Select item 2166673	NM_003924.4(PHOX2B):c.235G>T (p.Ala79Ser)	PHOX2B, PHOX2B-AS1 (A79S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2165269	NM_003924.4(PHOX2B):c.516G>C (p.Ser172=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2163335	NM_003924.4(PHOX2B):c.134A>G (p.Asn45Ser)	PHOX2B, PHOX2B-AS1 (N45S)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2162286	NM_003924.4(PHOX2B):c.756G>C (p.Ala252=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2161168	NM_003924.4(PHOX2B):c.430-7G>C	PHOX2B	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 2146299	NM_003924.4(PHOX2B):c.522A>G (p.Lys174=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2141611	NM_003924.4(PHOX2B):c.564G>T (p.Lys188Asn)	PHOX2B (K188N)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 2139957	NM_003924.4(PHOX2B):c.455A>G (p.Lys152Arg)	PHOX2B (K152R)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2135078	NM_003924.4(PHOX2B):c.864G>T (p.Gly288=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
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 2132443	NM_003924.4(PHOX2B):c.847A>C (p.Ile283Leu)	PHOX2B (I283L)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2131964	NM_003924.4(PHOX2B):c.794C>G (p.Ala265Gly)	PHOX2B (A265G)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2124720	NM_003924.4(PHOX2B):c.581G>A (p.Ser194Asn)	PHOX2B (S194N)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2124493	NM_003924.4(PHOX2B):c.705A>G (p.Glu235=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2123087	NM_003924.4(PHOX2B):c.446G>A (p.Arg149His)	PHOX2B (R149H)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2122532	NM_003924.4(PHOX2B):c.100A>T (p.Ser34Cys)	PHOX2B, PHOX2B-AS1 (S34C)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2105748	NM_003924.4(PHOX2B):c.430-11T>C	PHOX2B	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 2099213	NM_003924.4(PHOX2B):c.311C>A (p.Thr104Asn)	PHOX2B (T104N)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance

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