ClinVar for MedGen (Select 1713491) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068262	NM_006118.4(HAX1):c.622T>A (p.Phe208Ile)	HAX1 (F160I +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 3065044	NM_006118.4(HAX1):c.314del (p.Pro105fs)	HAX1 (P105fs +1 more)	Deletion (frameshift variant)	Kostmann syndrome	GLikely pathogenic
Select item 3023270	NM_006118.4(HAX1):c.184GGCTTC[3] (p.Phe65_Ser66insGlyPhe)	HAX1	Microsatellite (inframe_insertion +1 more)	Kostmann syndrome	GUncertain significance
Select item 3012302	NM_006118.4(HAX1):c.663+20dup	HAX1	Duplication (intron variant)	Kostmann syndrome	GLikely benign
Select item 3012002	NM_006118.4(HAX1):c.741C>T (p.Ser247=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 3011618	NM_006118.4(HAX1):c.381C>T (p.Asp127=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
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 3008569	NM_006118.4(HAX1):c.54-20C>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
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 3003271	NM_006118.4(HAX1):c.189C>T (p.Phe63=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	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 3002327	NM_006118.4(HAX1):c.317-19A>C	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 3002156	NM_006118.4(HAX1):c.317-17C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2997742	NM_006118.4(HAX1):c.316+17A>G	HAX1	Single nucleotide variant (intron variant)	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 2990578	NM_006118.4(HAX1):c.504+12A>T	HAX1	Single nucleotide variant (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 2981323	NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)	HAX1 (R29*)	Single nucleotide variant (nonsense +1 more)	Kostmann syndrome	GPathogenic
Select item 2979928	NM_006118.4(HAX1):c.664-13C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2974665	NM_006118.4(HAX1):c.664-8C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2968091	NM_006118.4(HAX1):c.679C>A (p.Arg227=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2964946	NM_006118.4(HAX1):c.504+12A>C	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2919855	NM_006118.4(HAX1):c.594G>T (p.Pro198=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2918216	NM_006118.4(HAX1):c.754+19G>C	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2917739	NM_006118.4(HAX1):c.317-17C>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2911290	NM_006118.4(HAX1):c.173del (p.Pro58fs)	HAX1 (P58fs)	Deletion (intron variant +1 more)	Kostmann syndrome	GPathogenic
Select item 2907291	NM_006118.4(HAX1):c.505-1G>C	HAX1	Single nucleotide variant (splice acceptor variant)	Kostmann syndrome	GPathogenic
Select item 2902682	NM_006118.4(HAX1):c.755-13C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2901203	NM_006118.4(HAX1):c.754+18G>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2901108	NM_006118.4(HAX1):c.664-8C>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2896193	NM_006118.4(HAX1):c.755-17A>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2868374	NM_006118.4(HAX1):c.798C>A (p.Ser266=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2865916	NM_006118.4(HAX1):c.557-7C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2865712	NM_006118.4(HAX1):c.557-16C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2858843	NM_006118.4(HAX1):c.103_106del (p.Glu35fs)	HAX1 (E35fs)	Deletion (frameshift variant +1 more)	Kostmann syndrome	GPathogenic
Select item 2858293	NM_006118.4(HAX1):c.16del (p.Leu6fs)	HAX1 (L6fs)	Deletion (frameshift variant)	Kostmann syndrome	GPathogenic
Select item 2853130	NM_006118.4(HAX1):c.171C>A (p.Pro57=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 2840906	NM_006118.4(HAX1):c.495A>G (p.Pro165=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2840718	NM_006118.4(HAX1):c.684T>C (p.Thr228=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2838545	NM_006118.4(HAX1):c.543C>A (p.Thr181=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2833255	NM_006118.4(HAX1):c.800del (p.Ile267fs)	HAX1 (I267fs +1 more)	Deletion (frameshift variant)	Kostmann syndrome	GUncertain significance
Select item 2826674	NM_006118.4(HAX1):c.705G>A (p.Arg235=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2823651	NM_006118.4(HAX1):c.385A>T (p.Met129Leu)	HAX1 (M129L +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
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 2822381	NM_006118.4(HAX1):c.556+15A>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2821864	NM_006118.4(HAX1):c.504+10C>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2821680	NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)	HAX1	Duplication (frameshift variant)	Kostmann syndrome	GPathogenic
Select item 2807635	NM_006118.4(HAX1):c.779C>T (p.Ala260Val)	HAX1 (A212V +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 2806834	NM_006118.4(HAX1):c.432del (p.Leu145fs)	HAX1 (L145fs +1 more)	Deletion (frameshift variant)	Kostmann syndrome	GPathogenic
Select item 2805940	NM_006118.4(HAX1):c.171C>G (p.Pro57=)	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 2799709	NM_006118.4(HAX1):c.786T>C (p.Asp262=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2790899	NM_006118.4(HAX1):c.504+12A>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2788716	NM_006118.4(HAX1):c.556+15A>C	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2785570	NM_006118.4(HAX1):c.822T>G (p.Arg274=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2770633	NM_006118.4(HAX1):c.513T>C (p.Asp171=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2764573	NM_006118.4(HAX1):c.459C>A (p.Ser153=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2761336	NM_006118.4(HAX1):c.755-5C>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2760885	NM_006118.4(HAX1):c.664-4G>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2753632	NM_006118.4(HAX1):c.556+9G>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2753280	NM_006118.4(HAX1):c.556+11A>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2745865	NM_006118.4(HAX1):c.53+16G>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2737583	NM_006118.4(HAX1):c.612C>A (p.Pro204=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2731428	NM_006118.4(HAX1):c.557-5T>C	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2727233	NM_006118.4(HAX1):c.754+16_754+17del	HAX1	Deletion (intron variant)	Kostmann syndrome	GLikely benign
Select item 2723909	NM_006118.4(HAX1):c.505-13G>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2721524	NM_006118.4(HAX1):c.557-18A>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2717689	NM_006118.4(HAX1):c.453T>C (p.Ser151=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2717429	NM_006118.4(HAX1):c.557-11T>C	HAX1	Single nucleotide variant (intron 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 2713107	NM_006118.4(HAX1):c.216G>C (p.Gly72=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2707449	NM_006118.4(HAX1):c.504+19C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GLikely benign
Select item 2704984	NM_006118.4(HAX1):c.606C>T (p.Pro202=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2703115	NM_006118.4(HAX1):c.53+3GA[3]	HAX1	Microsatellite (intron variant)	Kostmann syndrome	GLikely benign
Select item 2697648	NM_006118.4(HAX1):c.744T>C (p.Ser248=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2695856	NM_006118.4(HAX1):c.819A>G (p.Gly273=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2506550	GRCh37/hg19 1q21.3(chr1:154247426-154248177)	HAX1	Copy number loss	Kostmann syndrome	GLikely pathogenic
Select item 2500041	NM_006118.4(HAX1):c.171C>T (p.Pro57=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 2428180	NM_006118.4(HAX1):c.583G>A (p.Gly195Ser)	HAX1 (G147S +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic
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 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 2197616	NM_006118.4(HAX1):c.229G>A (p.Asp77Asn)	HAX1 (D29N +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 2191996	NM_006118.4(HAX1):c.316+4T>G	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GUncertain significance
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 2177043	NM_006118.4(HAX1):c.365G>A (p.Gly122Glu)	HAX1 (G74E +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 2170392	NM_006118.4(HAX1):c.556+1G>A	HAX1	Single nucleotide variant (splice donor variant)	Kostmann syndrome +1 more	GLikely pathogenic
Select item 2167715	NM_006118.4(HAX1):c.42T>G (p.Pro14=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2167517	NM_006118.4(HAX1):c.703C>T (p.Arg235Trp)	HAX1 (R187W +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
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 2164904	NM_006118.4(HAX1):c.24G>A (p.Arg8=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2162483	NM_006118.4(HAX1):c.382T>G (p.Ser128Ala)	HAX1 (S128A +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 2160006	NM_006118.4(HAX1):c.317A>C (p.Glu106Ala)	HAX1 (E58A +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 2157568	NM_006118.4(HAX1):c.664-5T>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 2156445	NM_006118.4(HAX1):c.556+5G>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome	GUncertain significance
Select item 2152751	NM_006118.4(HAX1):c.54-12C>T	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 2144391	NM_006118.4(HAX1):c.690G>A (p.Val230=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome	GLikely benign
Select item 2141698	NM_006118.4(HAX1):c.752G>T (p.Gly251Val)	HAX1 (G251V +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance

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