"PHOX2B-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 467752	NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg)	PHOX2B (K310R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 535778	NM_003924.4(PHOX2B):c.806C>T (p.Pro269Leu)	PHOX2B (P269L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 429242	NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)	PHOX2B	Duplication (inframe_insertion)	PHOX2B-related disorder +3 more	GPathogenic
Select item 467742	NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del)	PHOX2B, LOC110011216	Deletion (inframe_deletion)	Haddad 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 695516	NM_003924.4(PHOX2B):c.762A>G (p.Ala254=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	PHOX2B-related disorder +2 more	GLikely benign
Select item 796109	NM_003924.4(PHOX2B):c.750GGC[3] (p.Ala260del)	LOC110011216, PHOX2B (A260del)	Microsatellite (inframe_deletion)	PHOX2B-related disorder +2 more	GLikely 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 6010	NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)	LOC110011216, PHOX2B (A241fs)	Deletion (frameshift variant)	PHOX2B-related disorder +1 more	GPathogenic
Select item 711400	NM_003924.4(PHOX2B):c.756G>A (p.Ala252=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	PHOX2B-related disorder +2 more	GLikely benign
Select item 1079819	NM_003924.4(PHOX2B):c.750G>T (p.Ala250=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	PHOX2B-related disorder +2 more	GLikely benign
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 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 703424	NM_003924.4(PHOX2B):c.744G>C (p.Ala248=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +2 more	GLikely benign
Select item 413918	NM_003924.4(PHOX2B):c.723_743del (p.Ala254_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	PHOX2B-related disorder +1 more	GLikely benign
Select item 2631260	NM_003924.4(PHOX2B):c.671_729del (p.Pro224fs)	LOC110011216, PHOX2B (P224fs)	Deletion (frameshift variant)	PHOX2B-related disorder	GPathogenic
Select item 2633086	NM_003924.4(PHOX2B):c.684dup (p.Pro229fs)	PHOX2B (P229fs)	Duplication (frameshift variant)	PHOX2B-related disorder	GPathogenic
Select item 1501201	NM_003924.4(PHOX2B):c.657C>A (p.Ser219Arg)	PHOX2B (S219R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 413922	NM_003924.4(PHOX2B):c.654C>A (p.Pro218=)	PHOX2B	Single nucleotide variant (synonymous variant)	PHOX2B-related disorder +2 more	GLikely benign
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 2631255	NM_003924.4(PHOX2B):c.382C>T (p.Arg128Trp)	PHOX2B (R128W)	Single nucleotide variant (missense variant)	PHOX2B-related disorder	GUncertain significance
Select item 1299866	NM_003924.4(PHOX2B):c.304C>T (p.Arg102Cys)	PHOX2B (R102C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 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 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 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 disorder	GUncertain significance

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Items: 26