"Invitae"[submitter] AND "LOC110011216"[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 467744	NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Haddad syndrome	GLikely benign
Select item 239595	NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Neuroblastoma, susceptibility to, 2 +5 more	GBenign/Likely 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 2007703	NM_003924.4(PHOX2B):c.777A>C (p.Ala259=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 467745	NM_003924.4(PHOX2B):c.771GGC[3] (p.Ala260dup)	LOC110011216, PHOX2B	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 239593	NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	not provided +3 more	GBenign/Likely benign
Select item 239590	NM_003924.4(PHOX2B):c.738_776del (p.Ala248_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
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 1627793	NM_003924.4(PHOX2B):c.774G>A (p.Ala258=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 573076	NM_003924.4(PHOX2B):c.762AGCGGC[3] (p.Ala259_Ala260dup)	LOC110011216, PHOX2B	Microsatellite (inframe_insertion)	Congenital central hypoventilation	GUncertain significance
Select item 413924	NM_003924.4(PHOX2B):c.747_773del (p.Ala252_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Haddad syndrome	GLikely benign
Select item 348809	NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)	LOC110011216, PHOX2B (A258E)	Single nucleotide variant (missense variant)	Haddad syndrome +4 more	GConflicting classifications of pathogenicity
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 1088448	NM_003924.4(PHOX2B):c.771G>C (p.Ala257=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1346897	NM_003924.4(PHOX2B):c.770C>T (p.Ala257Val)	LOC110011216, PHOX2B (A257V)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 1423672	NM_003924.4(PHOX2B):c.767_768insGGCGGCGTCAGCGGC (p.255_258A[4]SAAAA[1])	LOC110011216, PHOX2B	Insertion (inframe_insertion)	Haddad syndrome	GUncertain significance
Select item 467743	NM_003924.4(PHOX2B):c.768A>G (p.Ala256=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 699464	NM_003924.4(PHOX2B):c.741_767del (p.Ala252_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Haddad syndrome	GLikely benign
Select item 467742	NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del)	PHOX2B, LOC110011216	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 467741	NM_003924.4(PHOX2B):c.735_767del (p.Ala250_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	not provided +2 more	GLikely benign
Select item 1363171	NM_003924.4(PHOX2B):c.766G>A (p.Ala256Thr)	LOC110011216, PHOX2B (A256T)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 857993	NM_003924.4(PHOX2B):c.750GGC[5] (p.Ala260dup)	LOC110011216, PHOX2B	Microsatellite (inframe_insertion)	Haddad syndrome	GUncertain significance
Select item 695516	NM_003924.4(PHOX2B):c.762A>G (p.Ala254=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +2 more	GLikely benign
Select item 164944	NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
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 796109	NM_003924.4(PHOX2B):c.750GGC[3] (p.Ala260del)	LOC110011216, PHOX2B (A260del)	Microsatellite (inframe_deletion)	PHOX2B-related condition +2 more	GLikely benign
Select item 467740	NM_003924.4(PHOX2B):c.735_761del (p.Ala252_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Haddad syndrome	GLikely benign
Select item 239591	NM_003924.4(PHOX2B):c.741_761del (p.Ala254_Ala260del)	PHOX2B, LOC110011216	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 239594	NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	PHOX2B, LOC110011216 (A254T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	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 535786	NM_003924.4(PHOX2B):c.759G>A (p.Ala253=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 227016	NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	not specified +5 more	GBenign/Likely benign
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 711400	NM_003924.4(PHOX2B):c.756G>A (p.Ala252=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 196371	NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)	LOC110011216, PHOX2B	Deletion	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
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 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 1387994	NM_003924.4(PHOX2B):c.752C>T (p.Ala251Val)	LOC110011216, PHOX2B (A251V)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1079819	NM_003924.4(PHOX2B):c.750G>T (p.Ala250=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +2 more	GLikely benign
Select item 239592	NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1431039	NM_003924.4(PHOX2B):c.749C>A (p.Ala250Glu)	LOC110011216, PHOX2B (A250E)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 652159	NM_003924.4(PHOX2B):c.729_749del (p.Ala254_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Haddad syndrome +1 more	GConflicting classifications of pathogenicity
Select item 575056	NM_003924.4(PHOX2B):c.749C>G (p.Ala250Gly)	LOC110011216, PHOX2B (A250G)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1674220	NM_003924.4(PHOX2B):c.747A>G (p.Ala249=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 535783	NM_003924.4(PHOX2B):c.747A>C (p.Ala249=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 952953	NM_003924.4(PHOX2B):c.746C>T (p.Ala249Val)	LOC110011216, PHOX2B (A249V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	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 573807	NM_003924.4(PHOX2B):c.745G>A (p.Ala249Thr)	LOC110011216, PHOX2B (A249T)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1667193	NM_003924.4(PHOX2B):c.744G>A (p.Ala248=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 703424	NM_003924.4(PHOX2B):c.744G>C (p.Ala248=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1517055	NM_003924.4(PHOX2B):c.743C>A (p.Ala248Glu)	LOC110011216, PHOX2B (A248E)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 956928	NM_003924.4(PHOX2B):c.743C>T (p.Ala248Val)	PHOX2B, LOC110011216 (A248V)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 413918	NM_003924.4(PHOX2B):c.723_743del (p.Ala254_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Haddad syndrome +1 more	GLikely benign
Select item 901291	NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)	PHOX2B, LOC110011216	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 702863	NM_003924.4(PHOX2B):c.741C>A (p.Ala247=)	PHOX2B, LOC110011216	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1046758	NM_003924.4(PHOX2B):c.739G>A (p.Ala247Thr)	LOC110011216, PHOX2B (A247T)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1620720	NM_003924.4(PHOX2B):c.738G>C (p.Ala246=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1125075	NM_003924.4(PHOX2B):c.738G>A (p.Ala246=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	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 2048574	NM_003924.4(PHOX2B):c.735G>T (p.Ala245=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 1110134	NM_003924.4(PHOX2B):c.735G>A (p.Ala245=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1037999	NM_003924.4(PHOX2B):c.734C>T (p.Ala245Val)	LOC110011216, PHOX2B (A245V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1474626	NM_003924.4(PHOX2B):c.733G>A (p.Ala245Thr)	LOC110011216, PHOX2B (A245T)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1041206	NM_003924.4(PHOX2B):c.732_733insTCG (p.Ala244_Ala245insSer)	LOC110011216, PHOX2B	Insertion (inframe_insertion)	Haddad syndrome	GUncertain significance
Select item 1758372	NM_003924.4(PHOX2B):c.732G>T (p.Ala244=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1758360	NM_003924.4(PHOX2B):c.732G>A (p.Ala244=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1572606	NM_003924.4(PHOX2B):c.732G>C (p.Ala244=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1395048	NM_003924.4(PHOX2B):c.731C>A (p.Ala244Glu)	LOC110011216, PHOX2B (A244E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 960749	NM_003924.4(PHOX2B):c.731C>T (p.Ala244Val)	LOC110011216, PHOX2B (A244V)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 406409	NM_003924.4(PHOX2B):c.730G>C (p.Ala244Pro)	LOC110011216, PHOX2B (A244P)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +2 more	GUncertain significance
Select item 1161106	NM_003924.4(PHOX2B):c.729A>C (p.Ala243=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 568491	NM_003924.4(PHOX2B):c.728C>T (p.Ala243Val)	LOC110011216, PHOX2B (A243V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 227845	NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)	PHOX2B, LOC110011216	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 935491	NM_003924.4(PHOX2B):c.725C>T (p.Ala242Val)	LOC110011216, PHOX2B (A242V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 75