Related gene-specific medical variations for Gene (Select 8929) - 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 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 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 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 2863250	NM_003924.4(PHOX2B):c.772G>A (p.Ala258Thr)	LOC110011216, PHOX2B (A258T)	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 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 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	GUncertain significance
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 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 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 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 2636577	NM_003924.4(PHOX2B):c.66C>A (p.Asp22Glu)	PHOX2B, PHOX2B-AS1 (D22E)	Single nucleotide variant (non-coding transcript variant +1 more)	PHOX2B-related condition	GUncertain significance
Select item 2625357	NM_003924.4(PHOX2B):c.235G>C (p.Ala79Pro)	PHOX2B, PHOX2B-AS1 (A79P)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2625356	NM_003924.4(PHOX2B):c.761C>T (p.Ala254Val)	LOC110011216, PHOX2B (A254V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2625355	NM_003924.4(PHOX2B):c.47C>A (p.Ser16Tyr)	PHOX2B, PHOX2B-AS1 (S16Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2625352	NM_003924.4(PHOX2B):c.747_773dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAla)	LOC110011216, PHOX2B	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2625350	NM_003924.4(PHOX2B):c.222G>A (p.Gln74=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2625348	NM_003924.4(PHOX2B):c.237C>T (p.Ala79=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	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 +1 more	GPathogenic/Likely pathogenic
Select item 2625342	NM_003924.4(PHOX2B):c.236C>T (p.Ala79Val)	PHOX2B, PHOX2B-AS1 (A79V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2621280	NM_003924.4(PHOX2B):c.742G>A (p.Ala248Thr)	LOC110011216, PHOX2B (A248T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2563116	NM_003924.4(PHOX2B):c.151T>C (p.Phe51Leu)	PHOX2B, PHOX2B-AS1 (F51L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2563113	NM_003924.4(PHOX2B):c.224G>A (p.Ser75Asn)	PHOX2B, PHOX2B-AS1 (S75N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2563112	NM_003924.4(PHOX2B):c.753G>A (p.Ala251=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 2563109	NM_003924.4(PHOX2B):c.237C>A (p.Ala79=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	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 2561572	NM_003924.4(PHOX2B):c.6T>C (p.Tyr2=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 2496874	NM_003924.4(PHOX2B):c.119G>C (p.Ser40Thr)	PHOX2B, PHOX2B-AS1 (S40T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2496764	NM_003924.4(PHOX2B):c.50G>A (p.Cys17Tyr)	PHOX2B, PHOX2B-AS1 (C17Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448124	NM_003924.4(PHOX2B):c.189A>C (p.Gly63=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 2448122	NM_003924.4(PHOX2B):c.230C>G (p.Pro77Arg)	PHOX2B, PHOX2B-AS1 (P77R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448121	NM_003924.4(PHOX2B):c.22T>C (p.Tyr8His)	PHOX2B, PHOX2B-AS1 (Y8H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448117	NM_003924.4(PHOX2B):c.741C>T (p.Ala247=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2445302	NM_003924.4(PHOX2B):c.657C>G (p.Ser219Arg)	PHOX2B (S219R)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445269	NM_003924.4(PHOX2B):c.740C>G (p.Ala247Gly)	LOC110011216, PHOX2B (A247G)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445252	NM_003924.4(PHOX2B):c.776C>G (p.Ala259Gly)	LOC110011216, PHOX2B (A259G)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2434703	NM_003924.4(PHOX2B):c.881T>A (p.Val294Asp)	PHOX2B (V294D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428942	NM_003924.4(PHOX2B):c.735_746del (p.Ala257_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
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 2166673	NM_003924.4(PHOX2B):c.235G>T (p.Ala79Ser)	PHOX2B-AS1, PHOX2B (A79S)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
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 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 2071901	NM_003924.4(PHOX2B):c.85G>T (p.Ala29Ser)	PHOX2B, PHOX2B-AS1 (A29S)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2061302	NM_003924.4(PHOX2B):c.131A>G (p.Tyr44Cys)	PHOX2B, PHOX2B-AS1 (Y44C)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 2050091	NM_003924.4(PHOX2B):c.241+10T>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 2050087	NM_003924.4(PHOX2B):c.241+11_241+12del	PHOX2B, PHOX2B-AS1	Deletion (intron variant)	Haddad syndrome	GLikely benign
Select item 2048574	NM_003924.4(PHOX2B):c.735G>T (p.Ala245=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2033706	NM_003924.4(PHOX2B):c.147C>T (p.Thr49=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2007703	NM_003924.4(PHOX2B):c.777A>C (p.Ala259=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 2002969	NM_003924.4(PHOX2B):c.49T>C (p.Cys17Arg)	PHOX2B, PHOX2B-AS1 (C17R)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1952773	NM_003924.4(PHOX2B):c.74G>A (p.Ser25Asn)	PHOX2B, PHOX2B-AS1 (S25N)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1948449	NM_003924.4(PHOX2B):c.759G>C (p.Ala253=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 1810551	NM_003924.4(PHOX2B):c.750GGC[7] (p.Ala260_Gly261insAlaAlaAla)	PHOX2B, LOC110011216	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1794913	NM_003924.4(PHOX2B):c.26T>C (p.Leu9Pro)	PHOX2B, PHOX2B-AS1 (L9P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1790698	NM_003924.4(PHOX2B):c.23A>G (p.Tyr8Cys)	PHOX2B, PHOX2B-AS1 (Y8C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1789966	NM_003924.4(PHOX2B):c.234C>A (p.Tyr78Ter)	PHOX2B, PHOX2B-AS1 (Y78*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1789556	NM_003924.4(PHOX2B):c.231G>C (p.Pro77=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1789086	NM_003924.4(PHOX2B):c.228T>C (p.Ser76=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1787388	NM_003924.4(PHOX2B):c.218A>G (p.His73Arg)	PHOX2B, PHOX2B-AS1 (H73R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1786553	NM_003924.4(PHOX2B):c.213G>A (p.Arg71=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1786051	NM_003924.4(PHOX2B):c.210C>T (p.Leu70=)	PHOX2B-AS1, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1785711	NM_003924.4(PHOX2B):c.208dup (p.Leu70fs)	PHOX2B, PHOX2B-AS1 (L70fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1785529	NM_003924.4(PHOX2B):c.207C>T (p.Thr69=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1784527	NM_003924.4(PHOX2B):c.201G>C (p.Leu67=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1784169	NM_003924.4(PHOX2B):c.1A>G (p.Met1Val)	PHOX2B, PHOX2B-AS1 (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1781297	NM_003924.4(PHOX2B):c.184C>A (p.Pro62Thr)	PHOX2B, PHOX2B-AS1 (P62T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780917	NM_003924.4(PHOX2B):c.182C>T (p.Thr61Met)	PHOX2B, PHOX2B-AS1 (T61M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1778703	NM_003924.4(PHOX2B):c.171C>T (p.Cys57=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1776569	NM_003924.4(PHOX2B):c.161C>G (p.Thr54Arg)	PHOX2B, PHOX2B-AS1 (T54R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1776084	NM_003924.4(PHOX2B):c.159C>T (p.Ala53=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1775487	NM_003924.4(PHOX2B):c.156G>C (p.Gly52=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1774807	NM_003924.4(PHOX2B):c.153dup (p.Gly52fs)	PHOX2B, PHOX2B-AS1 (G52fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1770121	NM_003924.4(PHOX2B):c.132T>C (p.Tyr44=)	PHOX2B-AS1, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1767873	NM_003924.4(PHOX2B):c.96C>A (p.Asp32Glu)	PHOX2B, PHOX2B-AS1 (D32E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1764716	NM_003924.4(PHOX2B):c.87C>T (p.Ala29=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1764710	NM_003924.4(PHOX2B):c.87C>G (p.Ala29=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1760579	NM_003924.4(PHOX2B):c.777A>T (p.Ala259=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1760500	NM_003924.4(PHOX2B):c.776_777insGGCGGCCGCGGCAGCGGCGGC (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAla)	LOC110011216, PHOX2B	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1760499	NM_003924.4(PHOX2B):c.774_776GGC[3]AGCGGCAGCGGAGGC[1] (p.Ala260_Gly261insAlaAlaAlaAlaGluAlaAla)	LOC110011216, PHOX2B	Insertion (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1760487	NM_003924.4(PHOX2B):c.775G>A (p.Ala259Thr)	LOC110011216, PHOX2B (A259T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1760457	NM_003924.4(PHOX2B):c.774G>T (p.Ala258=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1760309	NM_003924.4(PHOX2B):c.771G>T (p.Ala257=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1760203	NM_003924.4(PHOX2B):c.76C>T (p.Leu26=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1760025	NM_003924.4(PHOX2B):c.765G>C (p.Ala255=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1759476	NM_003924.4(PHOX2B):c.754G>A (p.Ala252Thr)	LOC110011216, PHOX2B (A252T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1759436	NM_003924.4(PHOX2B):c.753G>C (p.Ala251=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1759330	NM_003924.4(PHOX2B):c.751G>T (p.Ala251Ser)	LOC110011216, PHOX2B (A251S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1759262	NM_003924.4(PHOX2B):c.750G>C (p.Ala250=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1759091	NM_003924.4(PHOX2B):c.747A>T (p.Ala249=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign

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