PHOX2B-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
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 1593478	NM_003924.4(PHOX2B):c.241+15C>T	PHOX2B, PHOX2B-AS1	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
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 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 2050087	NM_003924.4(PHOX2B):c.241+11_241+12del	PHOX2B, PHOX2B-AS1	Deletion (intron variant)	Haddad syndrome	GLikely benign
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 535784	NM_003924.4(PHOX2B):c.241+9C>T	PHOX2B, PHOX2B-AS1	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 1636636	NM_003924.4(PHOX2B):c.241+8C>T	PHOX2B, PHOX2B-AS1	Single nucleotide variant (intron variant)	Haddad syndrome	GLikely benign
Select item 1506890	NM_003924.4(PHOX2B):c.241+6G>C	PHOX2B, PHOX2B-AS1	Single nucleotide variant (intron variant)	Haddad syndrome	GUncertain significance
Select item 577171	NM_003924.4(PHOX2B):c.241+6G>T	PHOX2B, PHOX2B-AS1	Single nucleotide variant (intron variant)	Haddad syndrome	GUncertain significance
Select item 943610	NM_003924.4(PHOX2B):c.241+5G>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant (intron variant)	Haddad syndrome +1 more	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 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 995904	NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer)	PHOX2B, PHOX2B-AS1	Deletion (nonsense)	Congenital central hypoventilation	GPathogenic
Select item 1718297	NM_003924.4(PHOX2B):c.238G>C (p.Ala80Pro)	PHOX2B, PHOX2B-AS1 (A80P)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 639360	NM_003924.4(PHOX2B):c.238G>T (p.Ala80Ser)	PHOX2B, PHOX2B-AS1 (A80S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 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 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 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 2166673	NM_003924.4(PHOX2B):c.235G>T (p.Ala79Ser)	PHOX2B, PHOX2B-AS1 (A79S)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 901843	NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)	PHOX2B, PHOX2B-AS1 (A79T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +1 more	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 869129	NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)	PHOX2B, PHOX2B-AS1 (Y78*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 239587	NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)	PHOX2B-AS1, PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1789556	NM_003924.4(PHOX2B):c.231G>C (p.Pro77=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 706357	NM_003924.4(PHOX2B):c.231G>A (p.Pro77=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 700551	NM_003924.4(PHOX2B):c.231G>T (p.Pro77=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing 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 1789086	NM_003924.4(PHOX2B):c.228T>C (p.Ser76=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 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 2625350	NM_003924.4(PHOX2B):c.222G>A (p.Gln74=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Haddad syndrome +1 more	GLikely benign
Select item 820907	NM_003924.4(PHOX2B):c.222G>T (p.Gln74His)	PHOX2B, PHOX2B-AS1 (Q74H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 535775	NM_003924.4(PHOX2B):c.220C>T (p.Gln74Ter)	PHOX2B, PHOX2B-AS1 (Q74*)	Single nucleotide variant (nonsense)	Haddad syndrome	GPathogenic
Select item 820881	NM_003924.4(PHOX2B):c.219C>T (p.His73=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing 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 1021875	NM_003924.4(PHOX2B):c.216C>G (p.Asp72Glu)	PHOX2B, PHOX2B-AS1 (D72E)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 1484840	NM_003924.4(PHOX2B):c.214G>A (p.Asp72Asn)	PHOX2B, PHOX2B-AS1 (D72N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1786553	NM_003924.4(PHOX2B):c.213G>A (p.Arg71=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1786051	NM_003924.4(PHOX2B):c.210C>T (p.Leu70=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad 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 852207	NM_003924.4(PHOX2B):c.208C>T (p.Leu70Phe)	PHOX2B, PHOX2B-AS1 (L70F)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1785529	NM_003924.4(PHOX2B):c.207C>T (p.Thr69=)	PHOX2B-AS1, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1521927	NM_003924.4(PHOX2B):c.206C>A (p.Thr69Asn)	PHOX2B, PHOX2B-AS1 (T69N)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1083451	NM_003924.4(PHOX2B):c.204C>A (p.Gly68=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	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 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 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 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 1492632	NM_003924.4(PHOX2B):c.194G>A (p.Cys65Tyr)	PHOX2B, PHOX2B-AS1 (C65Y)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1008105	NM_003924.4(PHOX2B):c.193T>A (p.Cys65Ser)	PHOX2B, PHOX2B-AS1 (C65S)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	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 1319145	NM_003924.4(PHOX2B):c.188G>T (p.Gly63Val)	PHOX2B, PHOX2B-AS1 (G63V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1103671	NM_003924.4(PHOX2B):c.186G>C (p.Pro62=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 535766	NM_003924.4(PHOX2B):c.186G>A (p.Pro62=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 413925	NM_003924.4(PHOX2B):c.186G>T (p.Pro62=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
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 965896	NM_003924.4(PHOX2B):c.184C>G (p.Pro62Ala)	PHOX2B, PHOX2B-AS1 (P62A)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 1125209	NM_003924.4(PHOX2B):c.183G>C (p.Thr61=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1092366	NM_003924.4(PHOX2B):c.183G>T (p.Thr61=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
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 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 653892	NM_003924.4(PHOX2B):c.181A>G (p.Thr61Ala)	PHOX2B, PHOX2B-AS1 (T61A)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1363434	NM_003924.4(PHOX2B):c.178C>T (p.Leu60Phe)	PHOX2B, PHOX2B-AS1 (L60F)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 767512	NM_003924.4(PHOX2B):c.174T>G (p.Pro58=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 941134	NM_003924.4(PHOX2B):c.172C>T (p.Pro58Ser)	PHOX2B, PHOX2B-AS1 (P58S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	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 535776	NM_003924.4(PHOX2B):c.170G>A (p.Cys57Tyr)	PHOX2B, PHOX2B-AS1 (C57Y)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 862273	NM_003924.4(PHOX2B):c.167G>T (p.Gly56Val)	PHOX2B, PHOX2B-AS1 (G56V)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 1311279	NM_003924.4(PHOX2B):c.166G>A (p.Gly56Ser)	PHOX2B, PHOX2B-AS1 (G56S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 729368	NM_003924.4(PHOX2B):c.165C>A (p.Ser55=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 413917	NM_003924.4(PHOX2B):c.165C>T (p.Ser55=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1005135	NM_003924.4(PHOX2B):c.163T>C (p.Ser55Pro)	PHOX2B, PHOX2B-AS1 (S55P)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 1100459	NM_003924.4(PHOX2B):c.162G>A (p.Thr54=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
Select item 1079823	NM_003924.4(PHOX2B):c.162G>T (p.Thr54=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 729369	NM_003924.4(PHOX2B):c.162G>C (p.Thr54=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	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 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 1136229	NM_003924.4(PHOX2B):c.159C>G (p.Ala53=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 1349204	NM_003924.4(PHOX2B):c.158C>A (p.Ala53Asp)	PHOX2B, PHOX2B-AS1 (A53D)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 858395	NM_003924.4(PHOX2B):c.158C>T (p.Ala53Val)	PHOX2B, PHOX2B-AS1 (A53V)	Single nucleotide variant (missense variant)	Haddad syndrome	GUncertain significance
Select item 997541	NM_003924.4(PHOX2B):c.157G>T (p.Ala53Ser)	PHOX2B, PHOX2B-AS1 (A53S)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
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 755250	NM_003924.4(PHOX2B):c.156G>T (p.Gly52=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	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 1774807	NM_003924.4(PHOX2B):c.153dup (p.Gly52fs)	PHOX2B, PHOX2B-AS1 (G52fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 729370	NM_003924.4(PHOX2B):c.153T>C (p.Phe51=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome +1 more	GLikely benign
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 2033706	NM_003924.4(PHOX2B):c.147C>T (p.Thr49=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 1657359	NM_003924.4(PHOX2B):c.147C>A (p.Thr49=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Haddad syndrome	GLikely benign
Select item 467719	NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)	PHOX2B, PHOX2B-AS1 (T49N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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