ClinVar for Gene (Select 100131897) - ClinVar

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3529362	NM_001129891.3(INSYN2B):c.913T>G (p.Ser305Ala)	DOCK2, INSYN2B (S305A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529361	NM_001129891.3(INSYN2B):c.998G>C (p.Ser333Thr)	DOCK2, INSYN2B (S333T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529360	NM_001129891.3(INSYN2B):c.902G>A (p.Cys301Tyr)	DOCK2, INSYN2B (C301Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529359	NM_001129891.3(INSYN2B):c.757G>A (p.Glu253Lys)	DOCK2, INSYN2B (E253K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529358	NM_001129891.3(INSYN2B):c.1564C>T (p.Arg522Trp)	DOCK2, INSYN2B (R522W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529357	NM_001129891.3(INSYN2B):c.107A>C (p.Gln36Pro)	DOCK2, INSYN2B (Q36P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529356	NM_001129891.3(INSYN2B):c.971G>A (p.Gly324Glu)	DOCK2, INSYN2B (G324E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529355	NM_001129891.3(INSYN2B):c.1516C>G (p.Pro506Ala)	DOCK2, INSYN2B (P506A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529354	NM_001129891.3(INSYN2B):c.1224A>C (p.Glu408Asp)	DOCK2, INSYN2B (E408D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529353	NM_001129891.3(INSYN2B):c.1447G>A (p.Glu483Lys)	DOCK2, INSYN2B (E483K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529352	NM_001129891.3(INSYN2B):c.406G>A (p.Gly136Ser)	DOCK2, INSYN2B (G136S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529351	NM_001129891.3(INSYN2B):c.842C>T (p.Pro281Leu)	DOCK2, INSYN2B (P281L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529350	NM_001129891.3(INSYN2B):c.725G>T (p.Gly242Val)	DOCK2, INSYN2B (G242V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529348	NM_001129891.3(INSYN2B):c.226C>T (p.Pro76Ser)	DOCK2, INSYN2B (P76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529347	NM_001129891.3(INSYN2B):c.1084C>T (p.Pro362Ser)	DOCK2, INSYN2B (P362S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529346	NM_001129891.3(INSYN2B):c.277C>T (p.Arg93Cys)	DOCK2, INSYN2B (R93C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3392332	GRCh37/hg19 5q35.1(chr5:169095809-169991378)x1	C5orf58, DOCK2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 3387910	NM_001129891.3(INSYN2B):c.801C>T (p.His267=)	INSYN2B, DOCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3286183	NM_001129891.3(INSYN2B):c.1575G>C (p.Lys525Asn)	DOCK2, INSYN2B (K525N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286182	NM_001129891.3(INSYN2B):c.197G>C (p.Gly66Ala)	DOCK2, INSYN2B (G66A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286181	NM_001129891.3(INSYN2B):c.674G>C (p.Arg225Thr)	DOCK2, INSYN2B (R225T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286180	NM_001129891.3(INSYN2B):c.1274C>T (p.Ser425Leu)	DOCK2, INSYN2B (S425L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246414	NC_000005.9:g.(?_169064331)_(170245847_?)dup	C5orf58, DOCK2 +7 more	Duplication	DOCK2 deficiency	GUncertain significance
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 (missense 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 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 2687929	NM_004946.3(DOCK2):c.2800-48477A>G	DOCK2, INSYN2B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2656065	NM_001129891.3(INSYN2B):c.1216C>T (p.Arg406Trp)	DOCK2, INSYN2B (R406W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2603383	NM_001129891.3(INSYN2B):c.631A>G (p.Ser211Gly)	DOCK2, INSYN2B (S211G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597906	NM_001129891.3(INSYN2B):c.185C>T (p.Pro62Leu)	DOCK2, INSYN2B (P62L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2548100	NM_001129891.3(INSYN2B):c.485G>A (p.Arg162Gln)	DOCK2, INSYN2B (R162Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542769	NM_001129891.3(INSYN2B):c.1141T>A (p.Ser381Thr)	DOCK2, INSYN2B (S381T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508328	NM_001129891.3(INSYN2B):c.659C>T (p.Ala220Val)	DOCK2, INSYN2B (A220V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469132	NM_001129891.3(INSYN2B):c.1278C>A (p.Asn426Lys)	DOCK2, INSYN2B (N426K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425244	NC_000005.9:g.(?_167849013)_(169661202_?)del	C5orf58, DOCK2 +8 more	Deletion	DOCK2 deficiency	GPathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	LTC4S, MIR103A1 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 1034135	NM_004946.3(DOCK2):c.2799+42206G>A	DOCK2, INSYN2B (P281S)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 980751	GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1	C5orf58, DOCK2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 772874	NM_001129891.3(INSYN2B):c.1089C>T (p.Thr363=)	DOCK2, INSYN2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 771712	NM_001129891.3(INSYN2B):c.496G>C (p.Val166Leu)	DOCK2, INSYN2B (V166L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441595	GRCh37/hg19 5q35.1(chr5:168955293-170432136)x1	C5orf58, DOCK2 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394372	GRCh37/hg19 5q35.1(chr5:169220145-169453802)x1	DOCK2, INSYN2B	Copy number loss	See cases	GUncertain significance
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 89