ClinVar for MedGen (Select 901370) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246414	NC_000005.9:g.(?_169064331)_(170245847_?)dup	C5orf58, DOCK2 +7 more	Duplication	DOCK2 deficiency	GUncertain significance
Select item 3064416	NM_004946.3(DOCK2):c.1057del	DOCK2	Deletion (splice acceptor variant)	DOCK2 deficiency	GLikely pathogenic
Select item 3022671	NM_004946.3(DOCK2):c.4188T>C (p.Asp1396=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 3021079	NM_004946.3(DOCK2):c.3350G>C (p.Cys1117Ser)	DOCK2 (C1117S)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency +1 more	GUncertain significance
Select item 3018587	NM_004946.3(DOCK2):c.1293A>G (p.Leu431=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 3016897	NM_004946.3(DOCK2):c.1844-4T>G	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 3016893	NM_004946.3(DOCK2):c.3233-4T>G	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 3016678	NM_004946.3(DOCK2):c.4644+13G>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 3015772	NM_004946.3(DOCK2):c.1754_1755delinsTT (p.Ser585Ile)	DOCK2 (S585I)	Indel (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 3015629	NM_004946.3(DOCK2):c.351G>A (p.Val117=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 3015584	NM_004946.3(DOCK2):c.3371A>G (p.Asp1124Gly)	DOCK2 (D1124G)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 3014791	NM_004946.3(DOCK2):c.4866+10G>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 3014647	NM_004946.3(DOCK2):c.322-18T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 3013701	NM_004946.3(DOCK2):c.2031+20T>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 3012567	NM_004946.3(DOCK2):c.5166+19T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 3010264	NM_004946.3(DOCK2):c.3921G>A (p.Gln1307=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2996065	NM_004946.3(DOCK2):c.762-14T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2994352	NM_004946.3(DOCK2):c.2133-14_2133-12del	DOCK2	Microsatellite (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2993944	NM_004946.3(DOCK2):c.390G>A (p.Gln130=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2988703	NM_004946.3(DOCK2):c.43+8C>A	DOCK2, LOC129995219	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2986602	NM_004946.3(DOCK2):c.282A>G (p.Thr94=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2985417	NM_004946.3(DOCK2):c.44-14T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2980708	NM_004946.3(DOCK2):c.1335T>C (p.Asn445=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2973327	NM_004946.3(DOCK2):c.3024A>T (p.Ala1008=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2966829	NM_004946.3(DOCK2):c.555T>C (p.His185=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2964513	NM_004946.3(DOCK2):c.3624+4C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GUncertain significance
Select item 2963033	NM_004946.3(DOCK2):c.3915G>A (p.Ala1305=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2956931	NM_004946.3(DOCK2):c.120G>T (p.Thr40=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2919806	NM_004946.3(DOCK2):c.844-7C>T	DOCK2, LOC126807589	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2918243	NM_004946.3(DOCK2):c.1746G>A (p.Leu582=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2911760	NM_004946.3(DOCK2):c.3624+15C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2904710	NM_004946.3(DOCK2):c.2423T>C (p.Met808Thr)	DOCK2 (M808T)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2900767	NM_004946.3(DOCK2):c.3057G>A (p.Thr1019=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2899494	NM_004946.3(DOCK2):c.1555+8C>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2899090	NM_004946.3(DOCK2):c.1056-10dup	DOCK2	Duplication (intron variant)	DOCK2 deficiency	GBenign
Select item 2896792	NM_004946.3(DOCK2):c.2800-12C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2889112	NM_004946.3(DOCK2):c.2208G>A (p.Thr736=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2887089	NM_004946.3(DOCK2):c.2640G>A (p.Leu880=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2886152	NM_004946.3(DOCK2):c.5241C>T (p.Val1747=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2875546	NM_004946.3(DOCK2):c.405C>T (p.Thr135=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2875452	NM_004946.3(DOCK2):c.1626A>G (p.Leu542=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2875337	NM_004946.3(DOCK2):c.3168G>A (p.Leu1056=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2874410	NM_004946.3(DOCK2):c.5298C>G (p.Leu1766=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2868511	NM_004946.3(DOCK2):c.1660-13G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2867366	NM_004946.3(DOCK2):c.3381+19A>G	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2866334	NM_004946.3(DOCK2):c.2704-15_2704-14del	DOCK2	Microsatellite (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2865942	NM_004946.3(DOCK2):c.1852C>T (p.Leu618=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2865057	NM_004946.3(DOCK2):c.1660-11dup	DOCK2	Duplication (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2863721	NM_004946.3(DOCK2):c.3467+10G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2863714	NM_004946.3(DOCK2):c.224+13C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2863244	NM_004946.3(DOCK2):c.1056-8C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2859056	NM_004946.3(DOCK2):c.4950C>A (p.Ser1650=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2855235	NM_004946.3(DOCK2):c.4071+12G>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2854858	NM_004946.3(DOCK2):c.2994-10C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2847194	NM_004946.3(DOCK2):c.2016C>G (p.Leu672=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2846620	NM_004946.3(DOCK2):c.4644+8T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2845132	NM_004946.3(DOCK2):c.44-21_44-18del	DOCK2	Deletion (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2842990	NM_004946.3(DOCK2):c.4072-6C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2839653	NM_004946.3(DOCK2):c.470+18T>G	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2839592	NM_004946.3(DOCK2):c.1098A>G (p.Lys366=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2839539	NM_004946.3(DOCK2):c.3467+20T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2836830	NM_004946.3(DOCK2):c.4503C>T (p.Thr1501=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2836478	NM_004946.3(DOCK2):c.169-11G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2832624	NM_004946.3(DOCK2):c.3903C>T (p.Cys1301=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2832202	NM_004946.3(DOCK2):c.606+2T>G	DOCK2	Single nucleotide variant (splice donor variant)	DOCK2 deficiency	GLikely pathogenic
Select item 2830398	NM_004946.3(DOCK2):c.2993+14T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2828268	NM_004946.3(DOCK2):c.650C>A (p.Ser217Ter)	DOCK2 (S217*)	Single nucleotide variant (nonsense +1 more)	DOCK2 deficiency	GPathogenic
Select item 2822330	NM_004946.3(DOCK2):c.1449A>G (p.Gln483=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2820846	NM_004946.3(DOCK2):c.3207C>T (p.Ser1069=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2819289	NM_004946.3(DOCK2):c.3618C>T (p.Asn1206=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2818527	NM_004946.3(DOCK2):c.5288-1G>T	DOCK2	Single nucleotide variant (splice acceptor variant)	DOCK2 deficiency	GLikely pathogenic
Select item 2818513	NM_004946.3(DOCK2):c.1384-19T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2817455	NM_004946.3(DOCK2):c.2800-7C>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2816146	NM_004946.3(DOCK2):c.1329G>A (p.Gln443=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2814897	NM_004946.3(DOCK2):c.4295+20G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2806445	NM_004946.3(DOCK2):c.761+15G>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2805782	NM_004946.3(DOCK2):c.1065T>C (p.Ala355=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2803294	NM_004946.3(DOCK2):c.3840C>G (p.Leu1280=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2801896	NM_004946.3(DOCK2):c.2934C>T (p.Asp978=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2800525	NM_004946.3(DOCK2):c.3706A>C (p.Asn1236His)	DOCK2 (N1236H)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 2799702	NM_004946.3(DOCK2):c.4071+19T>G	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2798179	NM_004946.3(DOCK2):c.2019C>T (p.Val673=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2792831	NM_004946.3(DOCK2):c.3513G>T (p.Val1171=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2786504	NM_004946.3(DOCK2):c.3936C>T (p.Ile1312=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2785849	NM_004946.3(DOCK2):c.3967-17T>G	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2784498	NM_004946.3(DOCK2):c.1440G>T (p.Val480=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2784370	NM_004946.3(DOCK2):c.2898+9G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2784005	NM_004946.3(DOCK2):c.2256A>G (p.Thr752=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2782817	NM_004946.3(DOCK2):c.105G>A (p.Val35=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2776914	NM_004946.3(DOCK2):c.4971C>T (p.Thr1657=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2771634	NM_004946.3(DOCK2):c.4909C>T (p.Leu1637=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2767019	NM_004946.3(DOCK2):c.2994-4C>G	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2766145	NM_004946.3(DOCK2):c.2436G>A (p.Ala812=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2765336	NM_004946.3(DOCK2):c.3444G>A (p.Gln1148=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2764697	NM_004946.3(DOCK2):c.4644+11C>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2754152	NM_004946.3(DOCK2):c.5217G>A (p.Ala1739=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2754046	NM_004946.3(DOCK2):c.1132+17C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2750194	NM_004946.3(DOCK2):c.3072+11G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2747908	NM_004946.3(DOCK2):c.2448-7C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2740829	NM_004946.3(DOCK2):c.5430+20A>G	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign

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