ClinVar for MedGen (Select 815361) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022667	NM_007259.5(VPS45):c.1104+19G>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3021644	NM_007259.5(VPS45):c.577-13C>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3021239	NM_007259.5(VPS45):c.1092T>C (p.Ser364=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3018897	NM_007259.5(VPS45):c.1105-12_1105-9del	VPS45	Deletion (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3016142	NM_007259.5(VPS45):c.369+20A>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3015271	NM_007259.5(VPS45):c.634T>C (p.Leu212=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3015114	NM_007259.5(VPS45):c.823-20T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3013712	NM_007259.5(VPS45):c.582G>A (p.Val194=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3012114	NM_007259.5(VPS45):c.1372-6T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3012067	NM_007259.5(VPS45):c.577-6C>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3011823	NM_007259.5(VPS45):c.228+17G>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3009637	NM_007259.5(VPS45):c.823-13T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2997505	NM_007259.5(VPS45):c.289+16C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2996628	NM_007259.5(VPS45):c.1443G>A (p.Arg481=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2996168	NM_007259.5(VPS45):c.1098T>C (p.Ala366=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2994755	NM_007259.5(VPS45):c.1105-14C>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2992696	NM_007259.5(VPS45):c.290-18C>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2990920	NM_007259.5(VPS45):c.1269G>A (p.Val423=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2986579	NM_007259.5(VPS45):c.93+17T>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2979858	NM_007259.5(VPS45):c.688-16A>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2976320	NM_007259.5(VPS45):c.1104+14G>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2970024	NM_007259.5(VPS45):c.1371+18A>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2963203	NM_007259.5(VPS45):c.576+20T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2961778	NM_007259.5(VPS45):c.936+12A>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2958848	NM_007259.5(VPS45):c.327A>G (p.Ser109=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2957721	NM_007259.5(VPS45):c.1389T>C (p.Tyr463=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2955539	NM_007259.5(VPS45):c.1264-13del	VPS45	Deletion (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2918735	NM_007259.5(VPS45):c.219A>C (p.Arg73=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2917565	NM_007259.5(VPS45):c.1264-9_1264-6del	VPS45	Microsatellite (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2916113	NM_007259.5(VPS45):c.1085A>T (p.Asp362Val)	VPS45 (D257V +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2914642	NM_007259.5(VPS45):c.93+16C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2914460	NM_007259.5(VPS45):c.576+7C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2913536	NM_007259.5(VPS45):c.687+20C>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2913087	NM_007259.5(VPS45):c.370-15G>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2912806	NM_007259.5(VPS45):c.1105-15del	VPS45	Deletion (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2912603	NM_007259.5(VPS45):c.609A>G (p.Glu203=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2912243	NM_007259.5(VPS45):c.438+14G>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2911853	NM_007259.5(VPS45):c.1263+13C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2911431	NM_007259.5(VPS45):c.1372-8del	VPS45	Deletion (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2911281	NM_007259.5(VPS45):c.1372-4T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2910952	NM_007259.5(VPS45):c.1005T>A (p.Val335=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2903819	NM_007259.5(VPS45):c.93+18C>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2903663	NM_007259.5(VPS45):c.321G>A (p.Val107=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2901216	NM_007259.5(VPS45):c.1512G>A (p.Val504=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2898617	NM_007259.5(VPS45):c.1104+17G>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2893398	NM_007259.5(VPS45):c.936+9A>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2886867	NM_007259.5(VPS45):c.936+15T>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2880532	NM_007259.5(VPS45):c.537C>G (p.Leu179=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2875250	NM_007259.5(VPS45):c.936+14G>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2874269	NM_007259.5(VPS45):c.516T>C (p.Cys172=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2867951	NM_007259.5(VPS45):c.942T>C (p.Phe314=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2865413	NM_007259.5(VPS45):c.993T>C (p.His331=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2864161	NM_007259.5(VPS45):c.289+15T>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2861605	NM_007259.5(VPS45):c.1372-9C>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2859143	NM_007259.5(VPS45):c.1493+18T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2857112	NM_007259.5(VPS45):c.687+19G>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2855090	NM_007259.5(VPS45):c.513G>A (p.Lys171=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2845612	NM_007259.5(VPS45):c.290-12C>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2842371	NM_007259.5(VPS45):c.1494-14C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2841472	NM_007259.5(VPS45):c.1374A>G (p.Gly458=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2840287	NM_007259.5(VPS45):c.182A>C (p.Glu61Ala)	VPS45 (E61A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2837071	NM_007259.5(VPS45):c.540A>T (p.Ser180=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2831405	NM_007259.5(VPS45):c.1263+11dup	VPS45	Duplication (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2829478	NM_007259.5(VPS45):c.1266C>G (p.Leu422=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2826436	NM_007259.5(VPS45):c.1626-8C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2826313	NM_007259.5(VPS45):c.438+13A>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2826306	NM_007259.5(VPS45):c.1419C>T (p.Thr473=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2824497	NM_007259.5(VPS45):c.591A>G (p.Lys197=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2824413	NM_007259.5(VPS45):c.363G>A (p.Glu121=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2823799	NM_007259.5(VPS45):c.1371+11C>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2820945	NM_007259.5(VPS45):c.489A>G (p.Thr163=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2820021	NM_007259.5(VPS45):c.93+13_93+14dup	VPS45	Duplication (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2819716	NM_007259.5(VPS45):c.1372-3del	VPS45	Deletion (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GBenign
Select item 2816723	NM_007259.5(VPS45):c.832C>T (p.Leu278=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2814149	NM_007259.5(VPS45):c.1263+17T>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2803971	NM_007259.5(VPS45):c.1152T>A (p.Ala384=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2803783	NM_007259.5(VPS45):c.1372-20A>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2802841	NM_007259.5(VPS45):c.87A>G (p.Lys29=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2802561	NM_007259.5(VPS45):c.1105-11T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2800433	NM_007259.5(VPS45):c.1494-14C>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2800405	NM_007259.5(VPS45):c.1263+14A>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2800269	NM_007259.5(VPS45):c.1392A>T (p.Thr464=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2799810	NM_007259.5(VPS45):c.1626-18C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2798884	NM_007259.5(VPS45):c.1263+10T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2798363	NM_007259.5(VPS45):c.720A>G (p.Leu240=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2792626	NM_007259.5(VPS45):c.600A>G (p.Glu200=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2789200	NM_007259.5(VPS45):c.94-18A>T	VPS45	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2787142	NM_007259.5(VPS45):c.33T>C (p.Ile11=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2786453	NM_007259.5(VPS45):c.1626-17C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2785132	NM_007259.5(VPS45):c.228+7C>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2784400	NM_007259.5(VPS45):c.1264-14C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2783832	NM_007259.5(VPS45):c.290-19C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2783031	NM_007259.5(VPS45):c.1614C>T (p.His538=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2780938	NM_007259.5(VPS45):c.576+12C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2775910	NM_007259.5(VPS45):c.1347C>T (p.Thr449=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2770063	NM_007259.5(VPS45):c.936+11C>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2766720	NM_007259.5(VPS45):c.270A>G (p.Lys90=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2764855	NM_007259.5(VPS45):c.1476C>A (p.Pro492=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2763282	NM_007259.5(VPS45):c.1515T>C (p.Phe505=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2762782	NM_007259.5(VPS45):c.1152T>C (p.Ala384=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign

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