ClinVar for Gene (Select 1794) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234367	NM_001129891.3(INSYN2B):c.1053C>T (p.Ala351=)	DOCK2, INSYN2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3110023	NM_001129891.3(INSYN2B):c.986G>C (p.Cys329Ser)	DOCK2, INSYN2B (C329S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110022	NM_001129891.3(INSYN2B):c.914C>T (p.Ser305Phe)	DOCK2, INSYN2B (S305F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110021	NM_001129891.3(INSYN2B):c.79C>T (p.Pro27Ser)	DOCK2, INSYN2B (P27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110020	NM_001129891.3(INSYN2B):c.789C>A (p.Ser263Arg)	DOCK2, INSYN2B (S263R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110019	NM_001129891.3(INSYN2B):c.749T>C (p.Leu250Pro)	DOCK2, INSYN2B (L250P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3110018	NM_001129891.3(INSYN2B):c.729T>A (p.Asp243Glu)	DOCK2, INSYN2B (D243E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110017	NM_001129891.3(INSYN2B):c.725G>C (p.Gly242Ala)	DOCK2, INSYN2B (G242A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110016	NM_001129891.3(INSYN2B):c.724G>A (p.Gly242Ser)	DOCK2, INSYN2B (G242S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110015	NM_001129891.3(INSYN2B):c.722C>T (p.Pro241Leu)	DOCK2, INSYN2B (P241L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110014	NM_001129891.3(INSYN2B):c.718C>T (p.Arg240Cys)	DOCK2, INSYN2B (R240C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3110013	NM_001129891.3(INSYN2B):c.716C>T (p.Thr239Ile)	DOCK2, INSYN2B (T239I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110012	NM_001129891.3(INSYN2B):c.677C>T (p.Ser226Leu)	DOCK2, INSYN2B (S226L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110011	NM_001129891.3(INSYN2B):c.65A>G (p.Glu22Gly)	DOCK2, INSYN2B (E22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110010	NM_001129891.3(INSYN2B):c.649A>G (p.Arg217Gly)	DOCK2, INSYN2B (R217G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110009	NM_001129891.3(INSYN2B):c.580T>A (p.Ser194Thr)	DOCK2, INSYN2B (S194T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110008	NM_001129891.3(INSYN2B):c.44G>A (p.Arg15His)	DOCK2, INSYN2B (R15H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110007	NM_001129891.3(INSYN2B):c.441C>A (p.Asp147Glu)	DOCK2, INSYN2B (D147E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110006	NM_001129891.3(INSYN2B):c.358T>A (p.Ser120Thr)	DOCK2, INSYN2B (S120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110005	NM_001129891.3(INSYN2B):c.287C>A (p.Ala96Glu)	DOCK2, INSYN2B (A96E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110004	NM_001129891.3(INSYN2B):c.196G>C (p.Gly66Arg)	DOCK2, INSYN2B (G66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110003	NM_001129891.3(INSYN2B):c.188C>G (p.Ala63Gly)	DOCK2, INSYN2B (A63G)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3110002	NM_001129891.3(INSYN2B):c.166G>A (p.Val56Ile)	DOCK2, INSYN2B (V56I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110001	NM_001129891.3(INSYN2B):c.155C>G (p.Ala52Gly)	DOCK2, INSYN2B (A52G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110000	NM_001129891.3(INSYN2B):c.1537C>G (p.Pro513Ala)	DOCK2, INSYN2B (P513A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109999	NM_001129891.3(INSYN2B):c.1472A>G (p.Gln491Arg)	DOCK2, INSYN2B (Q491R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109998	NM_001129891.3(INSYN2B):c.1422T>C (p.Ser474=)	DOCK2, INSYN2B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3109997	NM_001129891.3(INSYN2B):c.134C>T (p.Thr45Ile)	DOCK2, INSYN2B (T45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109996	NM_001129891.3(INSYN2B):c.1331G>A (p.Arg444Gln)	DOCK2, INSYN2B (R444Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109995	NM_001129891.3(INSYN2B):c.1262A>C (p.Glu421Ala)	DOCK2, INSYN2B (E421A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109994	NM_001129891.3(INSYN2B):c.1217G>A (p.Arg406Gln)	DOCK2, INSYN2B (R406Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109993	NM_001129891.3(INSYN2B):c.1142C>T (p.Ser381Phe)	DOCK2, INSYN2B (S381F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109992	NM_001129891.3(INSYN2B):c.1073C>T (p.Thr358Met)	DOCK2, INSYN2B (T358M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3084984	NM_004946.3(DOCK2):c.5302G>A (p.Val1768Met)	DOCK2 (V1768M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084982	NM_004946.3(DOCK2):c.5011G>A (p.Ala1671Thr)	DOCK2 (A1671T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084981	NM_004946.3(DOCK2):c.4960G>A (p.Asp1654Asn)	DOCK2 (D1654N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084979	NM_004946.3(DOCK2):c.4418A>G (p.Tyr1473Cys)	DOCK2 (Y1473C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084978	NM_004946.3(DOCK2):c.2053G>A (p.Ala685Thr)	DOCK2 (A685T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084977	NM_004946.3(DOCK2):c.1784G>A (p.Ser595Asn)	DOCK2 (S595N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064416	NM_004946.3(DOCK2):c.1057del	DOCK2	Deletion (splice acceptor variant)	DOCK2 deficiency	GLikely pathogenic
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 3057400	NM_004946.3(DOCK2):c.1716A>T (p.Arg572=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2-related disorder	GLikely benign
Select item 3045113	NM_004946.3(DOCK2):c.4449G>A (p.Glu1483=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2-related disorder	GLikely benign
Select item 3041097	NM_004946.3(DOCK2):c.660C>A (p.Thr220=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2-related disorder	GLikely benign
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	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 (non-coding transcript 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 (non-coding transcript 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 (non-coding transcript 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

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