HAX1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 292699	NM_006118.3(HAX1):c.-150A>T	HAX1, LOC129931498	Single nucleotide variant	Kostmann syndrome	GUncertain significance
Select item 292700	NM_006118.4(HAX1):c.-58T>G	HAX1, LOC129931498	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 292701	NM_006118.4(HAX1):c.-53del	HAX1, LOC129931498	Deletion (5 prime UTR variant)	Severe congenital neutropenia	GLikely benign
Select item 1290913	NM_006118.4(HAX1):c.-53_-52del	HAX1, LOC129931498	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1260665	NM_006118.4(HAX1):c.-53_-52delinsT	HAX1, LOC129931498	Indel (5 prime UTR variant)	not provided	GBenign
Select item 292702	NM_006118.4(HAX1):c.-52G>T	HAX1, LOC129931498	Single nucleotide variant (5 prime UTR variant)	Kostmann syndrome	GBenign
Select item 1337365	NM_006118.4(HAX1):c.-5C>T	HAX1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1541241	NM_006118.4(HAX1):c.9C>T (p.Leu3=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 1124819	NM_006118.4(HAX1):c.9C>G (p.Leu3=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 3002493	NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)	HAX1	Deletion (nonsense)	Kostmann syndrome	GPathogenic
Select item 651979	NM_006118.4(HAX1):c.11T>C (p.Phe4Ser)	HAX1 (F4S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1653775	NM_006118.4(HAX1):c.12T>C (p.Phe4=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 476636	NM_006118.4(HAX1):c.14A>C (p.Asp5Ala)	HAX1 (D5A)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 863374	NM_006118.4(HAX1):c.15T>A (p.Asp5Glu)	HAX1 (D5E)	Single nucleotide variant (missense variant)	Kostmann syndrome +1 more	GUncertain significance
Select item 2858293	NM_006118.4(HAX1):c.16del (p.Leu6fs)	HAX1 (L6fs)	Deletion (frameshift variant)	Kostmann syndrome	GPathogenic
Select item 1145111	NM_006118.4(HAX1):c.18C>T (p.Leu6=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome +1 more	GLikely benign
Select item 1102743	NM_006118.4(HAX1):c.18C>G (p.Leu6=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 1092301	NM_006118.4(HAX1):c.21C>T (p.Phe7=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2164904	NM_006118.4(HAX1):c.24G>A (p.Arg8=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2040973	NM_006118.4(HAX1):c.27C>T (p.Gly9=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 1091873	NM_006118.4(HAX1):c.30T>C (p.Phe10=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2004543	NM_006118.4(HAX1):c.32T>C (p.Phe11Ser)	HAX1 (F11S)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 743330	NM_006118.4(HAX1):c.36C>G (p.Gly12=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2167715	NM_006118.4(HAX1):c.42T>G (p.Pro14=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2715418	NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)	HAX1 (G15*)	Single nucleotide variant (nonsense)	Kostmann syndrome	GPathogenic
Select item 579564	NM_006118.4(HAX1):c.46C>T (p.Pro16Ser)	HAX1 (P16S)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 1407230	NM_006118.4(HAX1):c.47C>T (p.Pro16Leu)	HAX1 (P16L)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 2703115	NM_006118.4(HAX1):c.53+3GA[3]	HAX1	Microsatellite (intron variant)	Kostmann syndrome	GLikely benign
Select item 2984315	NM_006118.4(HAX1):c.53+6_53+7insT	HAX1	Insertion (intron variant)	Kostmann syndrome	GLikely benign
Select item 1537038	NM_006118.4(HAX1):c.53+7G>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1101498	NM_006118.4(HAX1):c.53+9A>C	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1336275	NM_006118.4(HAX1):c.53+11G>A	HAX1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1290914	NM_006118.4(HAX1):c.53+13C>T	HAX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 259919	NM_006118.4(HAX1):c.53+14C>T	HAX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2745865	NM_006118.4(HAX1):c.53+16G>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1909338	NM_006118.4(HAX1):c.53+19C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1693992	NM_006118.4(HAX1):c.53+26G>A	HAX1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3008569	NM_006118.4(HAX1):c.54-20C>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1650672	NM_006118.4(HAX1):c.54-18A>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2156571	NM_006118.4(HAX1):c.54-15T>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2151765	NM_006118.4(HAX1):c.54-14G>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2152751	NM_006118.4(HAX1):c.54-12C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1475682	NM_006118.4(HAX1):c.54-9del	HAX1	Deletion (intron variant)	Kostmann syndrome	GUncertain significance
Select item 1615522	NM_006118.4(HAX1):c.54-8A>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1142615	NM_006118.4(HAX1):c.54-6T>C	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 798359	NM_006118.4(HAX1):c.54-5C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1598178	NM_006118.4(HAX1):c.54-4T>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1099509	NM_006118.4(HAX1):c.54-4T>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 1492611	NM_006118.4(HAX1):c.54-2A>T	HAX1	Single nucleotide variant (splice acceptor variant +1 more)	Kostmann syndrome	GLikely pathogenic
Select item 1453573	NM_006118.4(HAX1):c.58dup (p.Arg20fs)	HAX1 (R20fs)	Duplication (frameshift variant +1 more)	Kostmann syndrome	GPathogenic
Select item 1085362	NM_006118.4(HAX1):c.57C>T (p.His19=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 1693998	NM_006118.4(HAX1):c.60_61delinsTC (p.Arg20_Asp21delinsSerHis)	HAX1	Indel (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3004769	NM_006118.4(HAX1):c.78G>A (p.Gly26=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 2803481	NM_006118.4(HAX1):c.84T>C (p.Thr28=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 2981323	NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)	HAX1 (R29*)	Single nucleotide variant (nonsense +1 more)	Kostmann syndrome	GPathogenic
Select item 2630122	NM_006118.4(HAX1):c.87AGATGA[1] (p.Glu31_Asp32del)	HAX1	Microsatellite (inframe_indel +2 more)	HAX1-related disorder	GUncertain significance
Select item 1444066	NM_006118.4(HAX1):c.93_95del (p.Glu31del)	HAX1 (E31del)	Deletion (inframe_deletion +1 more)	Kostmann syndrome	GUncertain significance
Select item 419887	NM_006118.4(HAX1):c.91del (p.Glu31fs)	HAX1 (E31fs)	Deletion (frameshift variant +1 more)	Severe congenital neutropenia +2 more	GPathogenic/Likely pathogenic
Select item 543081	NM_006118.4(HAX1):c.96TGA[2] (p.Asp34del)	HAX1 (D34del)	Microsatellite (inframe_deletion +1 more)	Kostmann syndrome	GUncertain significance
Select item 1563882	NM_006118.4(HAX1):c.96T>C (p.Asp32=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 2490071	NM_006118.4(HAX1):c.99T>G (p.Asp33Glu)	HAX1 (D33E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2021505	NM_006118.4(HAX1):c.99T>C (p.Asp33=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 971685	NM_006118.4(HAX1):c.102T>G (p.Asp34Glu)	HAX1 (D34E)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome	GUncertain significance
Select item 642986	NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup)	HAX1	Duplication (inframe_insertion +1 more)	Kostmann syndrome	GUncertain significance
Select item 2858843	NM_006118.4(HAX1):c.103_106del (p.Glu35fs)	HAX1 (E35fs)	Deletion (frameshift variant +1 more)	Kostmann syndrome	GPathogenic
Select item 1113837	NM_006118.4(HAX1):c.105_107del (p.Glu40del)	HAX1 (E40del)	Deletion (inframe_deletion +1 more)	Kostmann syndrome	GLikely benign
Select item 2182936	NM_006118.4(HAX1):c.107AAG[7] (p.Glu40_Gly41insGluGlu)	HAX1	Microsatellite (inframe_insertion +1 more)	Kostmann syndrome	GUncertain significance
Select item 2062435	NM_006118.4(HAX1):c.107AAG[6] (p.Glu40_Gly41insGlu)	HAX1	Microsatellite (inframe_insertion +1 more)	Kostmann syndrome	GUncertain significance
Select item 1405106	NM_006118.4(HAX1):c.106G>A (p.Glu36Lys)	HAX1 (E36K)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome	GUncertain significance
Select item 435393	NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del)	HAX1 (E40del)	Microsatellite (inframe_deletion +1 more)	not specified +1 more	GLikely benign
Select item 1154178	NM_006118.4(HAX1):c.108A>G (p.Glu36=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 2632756	NM_006118.4(HAX1):c.109G>T (p.Glu37Ter)	HAX1 (E37*)	Single nucleotide variant (nonsense +1 more)	HAX1-related disorder	GLikely pathogenic
Select item 2413281	NM_006118.4(HAX1):c.109G>C (p.Glu37Gln)	HAX1 (E37Q)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome	GUncertain significance
Select item 950107	NM_006118.4(HAX1):c.110A>C (p.Glu37Ala)	HAX1 (E37A)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome	GUncertain significance
Select item 543082	NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)	HAX1	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 4656	NM_006118.4(HAX1):c.125dup (p.Ser43fs)	HAX1 (S43fs)	Duplication (frameshift variant +1 more)	Kostmann syndrome	GPathogenic
Select item 658294	NM_006118.4(HAX1):c.122G>T (p.Gly41Val)	HAX1 (G41V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 383338	NM_006118.4(HAX1):c.123G>C (p.Gly41=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 969075	NM_006118.4(HAX1):c.125G>A (p.Gly42Asp)	HAX1 (G42D)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome	GUncertain significance
Select item 3010483	NM_006118.4(HAX1):c.129A>T (p.Ser43=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 2996951	NM_006118.4(HAX1):c.129A>C (p.Ser43=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 2127157	NM_006118.4(HAX1):c.129A>G (p.Ser43=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 4651	NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)	HAX1 (W44*)	Insertion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 961875	NM_006118.4(HAX1):c.135_137del (p.Arg46del)	HAX1 (R46del)	Deletion (inframe_deletion +1 more)	Kostmann syndrome	GUncertain significance
Select item 1698521	NM_006118.4(HAX1):c.136C>T (p.Arg46Cys)	HAX1 (R46C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 292703	NM_006118.4(HAX1):c.137G>C (p.Arg46Pro)	HAX1 (R46P)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome	GUncertain significance
Select item 1071627	NM_006118.4(HAX1):c.146del (p.Pro49fs)	HAX1 (P49fs)	Deletion (frameshift variant +1 more)	Kostmann syndrome	GPathogenic
Select item 2822830	NM_006118.4(HAX1):c.147A>G (p.Pro49=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 1020543	NM_006118.4(HAX1):c.150G>T (p.Arg50Ser)	HAX1 (R50S)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome +1 more	GUncertain significance
Select item 2116504	NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)	HAX1 (S53fs)	Duplication (intron variant +1 more)	Kostmann syndrome	GPathogenic
Select item 2166797	NM_006118.4(HAX1):c.157A>G (p.Ser53Gly)	HAX1 (S53G)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome	GUncertain significance
Select item 2001374	NM_006118.4(HAX1):c.159T>A (p.Ser53Arg)	HAX1 (S53R)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome	GUncertain significance
Select item 259917	NM_006118.4(HAX1):c.159T>C (p.Ser53=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 656724	NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)	HAX1 (P54A)	Single nucleotide variant (missense variant +1 more)	Kostmann syndrome +1 more	GUncertain significance
Select item 1665101	NM_006118.4(HAX1):c.162T>C (p.Pro54=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 2415426	NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)	HAX1 (Q55*)	Single nucleotide variant (nonsense +1 more)	Kostmann syndrome	GPathogenic
Select item 1410664	NM_006118.4(HAX1):c.166del (p.His56fs)	HAX1 (H56fs)	Deletion (frameshift variant +1 more)	Kostmann syndrome	GPathogenic
Select item 4653	NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer)	HAX1	Duplication (frameshift variant +1 more)	Kostmann syndrome	GPathogenic
Select item 2911290	NM_006118.4(HAX1):c.173del (p.Pro58fs)	HAX1 (P58fs)	Deletion (intron variant +1 more)	Kostmann syndrome	GPathogenic

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