ClinVar for Gene (Select 80005) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273382	NM_024940.8(DOCK5):c.2374C>T (p.Arg792Cys)	DOCK5 (R792C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273381	NM_024940.8(DOCK5):c.4361A>G (p.Tyr1454Cys)	DOCK5 (Y1454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273378	NM_024940.8(DOCK5):c.2169C>A (p.His723Gln)	DOCK5 (H723Q)	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 3273376	NM_024940.8(DOCK5):c.2941G>A (p.Asp981Asn)	DOCK5, LOC105379331 (D981N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273375	NM_024940.8(DOCK5):c.2913C>A (p.His971Gln)	DOCK5, LOC105379331 (H971Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273374	NM_024940.8(DOCK5):c.5449C>A (p.Pro1817Thr)	DOCK5 (P1817T)	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 3273372	NM_024940.8(DOCK5):c.1471G>A (p.Glu491Lys)	DOCK5 (E491K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273371	NM_024940.8(DOCK5):c.4168A>T (p.Arg1390Trp)	DOCK5 (R1390W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273370	NM_024940.8(DOCK5):c.2466C>A (p.Ser822Arg)	DOCK5 (S822R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273369	NM_024940.8(DOCK5):c.5461C>G (p.Pro1821Ala)	DOCK5 (P1821A)	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 3273366	NM_024940.8(DOCK5):c.1673A>G (p.Asp558Gly)	DOCK5 (D558G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273365	NM_024940.8(DOCK5):c.4752G>C (p.Glu1584Asp)	DOCK5 (E1584D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273364	NM_024940.8(DOCK5):c.3989G>A (p.Ser1330Asn)	DOCK5 (S1330N)	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 3273362	NM_024940.8(DOCK5):c.4096G>A (p.Gly1366Arg)	DOCK5 (G1366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273361	NM_024940.8(DOCK5):c.4150C>T (p.Arg1384Trp)	DOCK5 (R1384W)	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 3273359	NM_024940.8(DOCK5):c.5435C>T (p.Ala1812Val)	DOCK5 (A1812V)	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 3273356	NM_024940.8(DOCK5):c.2219A>G (p.Tyr740Cys)	DOCK5 (Y740C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273355	NM_024940.8(DOCK5):c.5335G>A (p.Gly1779Ser)	DOCK5 (G1779S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3273353	NM_024940.8(DOCK5):c.1654G>A (p.Val552Met)	DOCK5 (V552M)	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 3085061	NM_024940.8(DOCK5):c.877C>T (p.Arg293Cys)	DOCK5 (R293C)	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 3085059	NM_024940.8(DOCK5):c.541A>G (p.Ile181Val)	DOCK5 (I181V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3085057	NM_024940.8(DOCK5):c.5118G>T (p.Glu1706Asp)	DOCK5 (E1706D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085056	NM_024940.8(DOCK5):c.4961C>T (p.Thr1654Met)	DOCK5 (T1654M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085055	NM_024940.8(DOCK5):c.4901A>G (p.Glu1634Gly)	DOCK5 (E1634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085054	NM_024940.8(DOCK5):c.4889A>G (p.Lys1630Arg)	DOCK5 (K1630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085053	NM_024940.8(DOCK5):c.4850C>T (p.Pro1617Leu)	DOCK5 (P1617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085052	NM_024940.8(DOCK5):c.4732G>C (p.Glu1578Gln)	DOCK5 (E1578Q)	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 3085050	NM_024940.8(DOCK5):c.4414G>A (p.Glu1472Lys)	DOCK5 (E1472K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085049	NM_024940.8(DOCK5):c.4316C>T (p.Pro1439Leu)	DOCK5 (P1439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085048	NM_024940.8(DOCK5):c.4316C>G (p.Pro1439Arg)	DOCK5 (P1439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085047	NM_024940.8(DOCK5):c.4235C>T (p.Thr1412Met)	DOCK5 (T1412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085045	NM_024940.8(DOCK5):c.3601T>G (p.Leu1201Val)	DOCK5 (L1201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085044	NM_024940.8(DOCK5):c.3551A>G (p.Lys1184Arg)	DOCK5 (K1184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085043	NM_024940.8(DOCK5):c.3410A>G (p.Asn1137Ser)	DOCK5 (N1137S)	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 3085041	NM_024940.8(DOCK5):c.3263G>A (p.Arg1088Gln)	DOCK5 (R1088Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085040	NM_024940.8(DOCK5):c.3098T>C (p.Met1033Thr)	DOCK5 (M1033T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085039	NM_024940.8(DOCK5):c.2846A>G (p.His949Arg)	DOCK5, LOC105379331 (H949R)	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 3085037	NM_024940.8(DOCK5):c.2666A>G (p.Gln889Arg)	LOC121740712, DOCK5 (Q889R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085036	NM_024940.8(DOCK5):c.2591T>C (p.Val864Ala)	DOCK5 (V864A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085035	NM_024940.8(DOCK5):c.2586G>C (p.Lys862Asn)	DOCK5 (K862N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085033	NM_024940.8(DOCK5):c.2039T>C (p.Met680Thr)	DOCK5 (M680T)	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
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 3085030	NM_024940.8(DOCK5):c.1527G>T (p.Trp509Cys)	DOCK5 (W509C)	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 3085028	NM_024940.8(DOCK5):c.133T>C (p.Tyr45His)	DOCK5 (Y45H)	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 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063021	GRCh37/hg19 8p21.2(chr8:25077825-25337736)x3	CDCA2, DOCK5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658492	NM_024940.8(DOCK5):c.5322A>G (p.Leu1774=)	DOCK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658491	NM_024940.8(DOCK5):c.1653C>T (p.Phe551=)	DOCK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658490	NM_024940.8(DOCK5):c.738C>T (p.Tyr246=)	DOCK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658489	NM_024940.8(DOCK5):c.564G>A (p.Glu188=)	DOCK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623645	NM_024940.8(DOCK5):c.5554C>G (p.Pro1852Ala)	DOCK5 (P1852A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619803	NM_024940.8(DOCK5):c.4396C>T (p.Arg1466Trp)	DOCK5 (R1466W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604655	NM_024940.8(DOCK5):c.2413C>A (p.Pro805Thr)	DOCK5 (P805T)	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 2595972	NM_024940.8(DOCK5):c.4406G>A (p.Arg1469Gln)	DOCK5 (R1469Q)	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 2592268	NM_024940.8(DOCK5):c.3061A>G (p.Ile1021Val)	DOCK5 (I1021V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
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 2556748	NM_024940.8(DOCK5):c.1291A>G (p.Met431Val)	DOCK5 (M431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555051	NM_024940.8(DOCK5):c.3638A>G (p.Gln1213Arg)	DOCK5 (Q1213R)	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 2546065	NM_024940.8(DOCK5):c.4250A>G (p.Asp1417Gly)	DOCK5 (D1417G)	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 2533254	NM_024940.8(DOCK5):c.3205C>T (p.Arg1069Cys)	DOCK5 (R1069C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532881	NM_024940.8(DOCK5):c.4466A>G (p.Tyr1489Cys)	DOCK5 (Y1489C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532534	NM_024940.8(DOCK5):c.4197A>T (p.Leu1399Phe)	DOCK5 (L1399F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529449	NM_024940.8(DOCK5):c.5501C>T (p.Ser1834Phe)	DOCK5 (S1834F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524329	NM_024940.8(DOCK5):c.3141C>G (p.Phe1047Leu)	DOCK5 (F1047L)	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 2520479	NM_024940.8(DOCK5):c.1771A>C (p.Thr591Pro)	DOCK5 (T591P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514379	NM_024940.8(DOCK5):c.2572A>T (p.Asn858Tyr)	DOCK5 (N858Y)	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 2511397	NM_024940.8(DOCK5):c.1285C>T (p.Arg429Trp)	DOCK5 (R429W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic

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