DOCK5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 58413	GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3	ADAM28, ADAM7 +26 more	Copy number gain	See cases	GUncertain significance
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 2327008	NM_024940.8(DOCK5):c.44C>T (p.Ala15Val)	DOCK5 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380578	NM_024940.8(DOCK5):c.50A>G (p.Tyr17Cys)	DOCK5 (Y17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570072	NM_024940.8(DOCK5):c.59A>G (p.Asn20Ser)	DOCK5 (N20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085060	NM_024940.8(DOCK5):c.73G>T (p.Val25Leu)	DOCK5 (V25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512861	NM_024940.8(DOCK5):c.124G>A (p.Glu42Lys)	DOCK5 (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085028	NM_024940.8(DOCK5):c.133T>C (p.Tyr45His)	DOCK5 (Y45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552343	NM_024940.8(DOCK5):c.215A>G (p.Glu72Gly)	DOCK5 (E72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085038	NM_024940.8(DOCK5):c.278C>G (p.Ser93Cys)	DOCK5 (S93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273373	NM_024940.8(DOCK5):c.298G>A (p.Val100Ile)	DOCK5 (V100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384995	NM_024940.8(DOCK5):c.301A>G (p.Ile101Val)	DOCK5 (I101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085042	NM_024940.8(DOCK5):c.329A>G (p.Lys110Arg)	DOCK5 (K110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522280	NM_024940.8(DOCK5):c.413A>G (p.Lys138Arg)	DOCK5 (K138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085051	NM_024940.8(DOCK5):c.455T>C (p.Ile152Thr)	DOCK5 (I152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273367	NM_024940.8(DOCK5):c.459T>A (p.Asp153Glu)	DOCK5 (D153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229138	NM_024940.8(DOCK5):c.485A>G (p.Asp162Gly)	DOCK5 (D162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085058	NM_024940.8(DOCK5):c.522C>A (p.Asp174Glu)	DOCK5 (D174E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085059	NM_024940.8(DOCK5):c.541A>G (p.Ile181Val)	DOCK5 (I181V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281382	NM_024940.8(DOCK5):c.544G>C (p.Ala182Pro)	DOCK5 (A182P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301278	NM_024940.8(DOCK5):c.554A>G (p.Lys185Arg)	DOCK5 (K185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658489	NM_024940.8(DOCK5):c.564G>A (p.Glu188=)	DOCK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289842	NM_024940.8(DOCK5):c.565G>A (p.Val189Met)	DOCK5 (V189M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273354	NM_024940.8(DOCK5):c.632G>A (p.Arg211Gln)	DOCK5 (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541527	NM_024940.8(DOCK5):c.638A>G (p.Gln213Arg)	DOCK5 (Q213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593141	NM_024940.8(DOCK5):c.649A>G (p.Ser217Gly)	DOCK5 (S217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262915	NM_024940.8(DOCK5):c.661A>G (p.Thr221Ala)	DOCK5 (T221A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273363	NM_024940.8(DOCK5):c.665A>G (p.Tyr222Cys)	DOCK5 (Y222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227044	NM_024940.8(DOCK5):c.686A>G (p.Lys229Arg)	DOCK5 (K229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264830	NM_024940.8(DOCK5):c.703A>C (p.Ile235Leu)	DOCK5 (I235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658490	NM_024940.8(DOCK5):c.738C>T (p.Tyr246=)	DOCK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389650	NM_024940.8(DOCK5):c.739G>A (p.Asp247Asn)	DOCK5 (D247N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085061	NM_024940.8(DOCK5):c.877C>T (p.Arg293Cys)	DOCK5 (R293C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358181	NM_024940.8(DOCK5):c.884G>C (p.Ser295Thr)	DOCK5 (S295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085062	NM_024940.8(DOCK5):c.992A>T (p.Asp331Val)	DOCK5 (D331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085027	NM_024940.8(DOCK5):c.1118T>C (p.Ile373Thr)	DOCK5, LOC113788273 (I373T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294151	NM_024940.8(DOCK5):c.1152T>G (p.Asn384Lys)	DOCK5, LOC113788273 (N384K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779429	NM_024940.8(DOCK5):c.1192+7_1192+37del	DOCK5, LOC113788273	Deletion (intron variant)	not provided	GBenign
Select item 2374761	NM_024940.8(DOCK5):c.1246A>G (p.Asn416Asp)	DOCK5 (N416D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511397	NM_024940.8(DOCK5):c.1285C>T (p.Arg429Trp)	DOCK5 (R429W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556748	NM_024940.8(DOCK5):c.1291A>G (p.Met431Val)	DOCK5 (M431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602886	NM_024940.8(DOCK5):c.1328G>A (p.Arg443Gln)	DOCK5 (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771876	NM_024940.8(DOCK5):c.1406C>T (p.Thr469Met)	DOCK5 (T469M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2340328	NM_024940.8(DOCK5):c.1429G>A (p.Gly477Ser)	DOCK5 (G477S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273377	NM_024940.8(DOCK5):c.1435C>T (p.Leu479Phe)	DOCK5 (L479F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085029	NM_024940.8(DOCK5):c.1451T>C (p.Ile484Thr)	DOCK5 (I484T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273358	NM_024940.8(DOCK5):c.1457C>T (p.Pro486Leu)	DOCK5 (P486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273372	NM_024940.8(DOCK5):c.1471G>A (p.Glu491Lys)	DOCK5 (E491K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085030	NM_024940.8(DOCK5):c.1527G>T (p.Trp509Cys)	DOCK5 (W509C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394534	NM_024940.8(DOCK5):c.1570C>G (p.Arg524Gly)	DOCK5 (R524G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398415	NM_024940.8(DOCK5):c.1595G>A (p.Arg532Gln)	DOCK5 (R532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658491	NM_024940.8(DOCK5):c.1653C>T (p.Phe551=)	DOCK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3273353	NM_024940.8(DOCK5):c.1654G>A (p.Val552Met)	DOCK5 (V552M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273366	NM_024940.8(DOCK5):c.1673A>G (p.Asp558Gly)	DOCK5 (D558G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273360	NM_024940.8(DOCK5):c.1681A>G (p.Thr561Ala)	DOCK5 (T561A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085031	NM_024940.8(DOCK5):c.1744G>A (p.Ala582Thr)	DOCK5 (A582T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224185	NM_024940.8(DOCK5):c.1760C>A (p.Thr587Asn)	DOCK5 (T587N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520479	NM_024940.8(DOCK5):c.1771A>C (p.Thr591Pro)	DOCK5 (T591P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485219	NM_024940.8(DOCK5):c.1779G>A (p.Met593Ile)	DOCK5 (M593I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085032	NM_024940.8(DOCK5):c.1786G>C (p.Glu596Gln)	DOCK5 (E596Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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