DOCK2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1055

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 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 153055	GRCh38/hg38 5q35.1(chr5:169309260-169816053)x3	DOCK2, LOC126807589 +14 more	Copy number gain	See cases	GUncertain significance
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 2027377	NM_004946.3(DOCK2):c.6C>A (p.Ala2=)	DOCK2, LOC129995219	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1978946	NM_004946.3(DOCK2):c.22G>A (p.Asp8Asn)	DOCK2, LOC129995219 (D8N)	Single nucleotide variant (non-coding transcript variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1150574	NM_004946.3(DOCK2):c.31C>A (p.Arg11=)	DOCK2, LOC129995219	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1418213	NM_004946.3(DOCK2):c.32G>A (p.Arg11Gln)	DOCK2, LOC129995219 (R11Q)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 2988703	NM_004946.3(DOCK2):c.43+8C>A	DOCK2, LOC129995219	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2007947	NM_004946.3(DOCK2):c.43+20C>A	DOCK2, LOC129995219	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 2985417	NM_004946.3(DOCK2):c.44-14T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 542634	NM_004946.3(DOCK2):c.44-9G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GConflicting classifications of pathogenicity
Select item 1597248	NM_004946.3(DOCK2):c.44-4A>G	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2000716	NM_004946.3(DOCK2):c.57C>G (p.Phe19Leu)	DOCK2 (F19L)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1110336	NM_004946.3(DOCK2):c.66C>T (p.Ser22=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1044322	NM_004946.3(DOCK2):c.67G>A (p.Gly23Arg)	DOCK2 (G23R)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 945145	NM_004946.3(DOCK2):c.70G>C (p.Ala24Pro)	DOCK2 (A24P)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1523383	NM_004946.3(DOCK2):c.73C>G (p.Pro25Ala)	DOCK2 (P25A)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 2195202	NM_004946.3(DOCK2):c.75C>G (p.Pro25=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 542623	NM_004946.3(DOCK2):c.90G>C (p.Gln30His)	DOCK2 (Q30H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 1544983	NM_004946.3(DOCK2):c.93C>T (p.Ile31=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1112710	NM_004946.3(DOCK2):c.99T>C (p.Asp33=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 934613	NM_004946.3(DOCK2):c.103G>T (p.Val35Leu)	DOCK2 (V35L)	Single nucleotide variant (non-coding transcript variant +1 more)	DOCK2 deficiency	GUncertain significance
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 2479708	NM_004946.3(DOCK2):c.107G>A (p.Arg36Gln)	DOCK2 (R36Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241807	NM_004946.3(DOCK2):c.119C>T (p.Thr40Met)	DOCK2 (T40M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1580235	NM_004946.3(DOCK2):c.120G>C (p.Thr40=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 729271	NM_004946.3(DOCK2):c.127+6T>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1635458	NM_004946.3(DOCK2):c.127+17C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1538080	NM_004946.3(DOCK2):c.127+18G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2688211	NM_004946.3(DOCK2):c.128-84AAAAC[5]	DOCK2	Microsatellite (intron variant)	not specified	GBenign
Select item 1415984	NM_004946.3(DOCK2):c.134A>G (p.Tyr45Cys)	DOCK2 (Y45C)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency +1 more	GUncertain significance
Select item 1489199	NM_004946.3(DOCK2):c.138G>T (p.Arg46Ser)	DOCK2 (R46S)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1961273	NM_004946.3(DOCK2):c.148A>G (p.Ile50Val)	DOCK2 (I50V)	Single nucleotide variant (non-coding transcript variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1454578	NM_004946.3(DOCK2):c.149dup (p.His52fs)	DOCK2 (H52fs)	Duplication (frameshift variant +1 more)	DOCK2 deficiency	GPathogenic
Select item 476001	NM_004946.3(DOCK2):c.148A>C (p.Ile50Leu)	DOCK2 (I50L)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 2116565	NM_004946.3(DOCK2):c.167A>G (p.Gln56Arg)	DOCK2 (Q56R)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1139696	NM_004946.3(DOCK2):c.168+10C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 802175	NM_004946.3(DOCK2):c.169-72G>C	DOCK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2688136	NM_004946.3(DOCK2):c.169-40TTTTA[3]	DOCK2	Microsatellite (intron variant)	not specified	GBenign
Select item 2656064	NM_004946.3(DOCK2):c.169-30TTTTG[5]	DOCK2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2836478	NM_004946.3(DOCK2):c.169-11G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1474060	NM_004946.3(DOCK2):c.169-7C>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GUncertain significance
Select item 2050697	NM_004946.3(DOCK2):c.197T>C (p.Ile66Thr)	DOCK2 (I66T)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1909109	NM_004946.3(DOCK2):c.210A>T (p.Thr70=)	DOCK2	Single nucleotide variant (non-coding transcript variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1009395	NM_004946.3(DOCK2):c.215A>T (p.Glu72Val)	DOCK2 (E72V)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 2013242	NM_004946.3(DOCK2):c.216G>A (p.Glu72=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 761325	NM_004946.3(DOCK2):c.221G>A (p.Arg74Lys)	DOCK2 (R74K)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1520900	NM_004946.3(DOCK2):c.223A>G (p.Arg75Gly)	DOCK2 (R75G)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 2698025	NM_004946.3(DOCK2):c.224G>A (p.Arg75Lys)	DOCK2 (R75K)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 2863714	NM_004946.3(DOCK2):c.224+13C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2047932	NM_004946.3(DOCK2):c.224+16C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1659139	NM_004946.3(DOCK2):c.224+18C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1633972	NM_004946.3(DOCK2):c.224+19C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1517781	NM_004946.3(DOCK2):c.232G>A (p.Glu78Lys)	DOCK2 (E78K)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 849634	NM_004946.3(DOCK2):c.236A>G (p.Asn79Ser)	DOCK2 (N79S)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1478044	NM_004946.3(DOCK2):c.238A>G (p.Ile80Val)	DOCK2 (I80V)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 955171	NM_004946.3(DOCK2):c.239T>G (p.Ile80Ser)	DOCK2 (I80S)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1915410	NM_004946.3(DOCK2):c.240C>A (p.Ile80=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 718903	NM_004946.3(DOCK2):c.264A>G (p.Ala88=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GBenign
Select item 1651359	NM_004946.3(DOCK2):c.273G>A (p.Val91=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2711891	NM_004946.3(DOCK2):c.276A>G (p.Thr92=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1025391	NM_004946.3(DOCK2):c.278C>T (p.Thr93Met)	DOCK2 (T93M)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 476008	NM_004946.3(DOCK2):c.279G>T (p.Thr93=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely 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 578432	NM_004946.3(DOCK2):c.286T>C (p.Trp96Arg)	DOCK2 (W96R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 933389	NM_004946.3(DOCK2):c.301A>C (p.Ile101Leu)	DOCK2 (I101L)	Single nucleotide variant (non-coding transcript variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1649203	NM_004946.3(DOCK2):c.303C>A (p.Ile101=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1932879	NM_004946.3(DOCK2):c.304T>C (p.Trp102Arg)	DOCK2 (W102R)	Single nucleotide variant (non-coding transcript variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1075139	NM_004946.3(DOCK2):c.316dup (p.Tyr106fs)	DOCK2 (Y106fs)	Duplication (frameshift variant +1 more)	DOCK2 deficiency	GPathogenic
Select item 565766	NM_004946.3(DOCK2):c.321+1G>A	DOCK2	Single nucleotide variant (splice donor variant)	DOCK2 deficiency	GLikely pathogenic
Select item 1613606	NM_004946.3(DOCK2):c.321+19C>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 2688329	NM_004946.3(DOCK2):c.321+87C>T	DOCK2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2086152	NM_004946.3(DOCK2):c.322-19G>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1359307	NM_004946.3(DOCK2):c.322-19G>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GUncertain significance
Select item 3014647	NM_004946.3(DOCK2):c.322-18T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1103249	NM_004946.3(DOCK2):c.322-9G>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign
Select item 1986411	NM_004946.3(DOCK2):c.335A>G (p.Glu112Gly)	DOCK2 (E112G)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 542610	NM_004946.3(DOCK2):c.338G>A (p.Arg113His)	DOCK2 (R113H)	Single nucleotide variant (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 662674	NM_004946.3(DOCK2):c.360G>A (p.Met120Ile)	DOCK2 (M120I)	Single nucleotide variant (missense variant +1 more)	DOCK2-related condition +1 more	GUncertain significance
Select item 1508899	NM_004946.3(DOCK2):c.363G>A (p.Met121Ile)	DOCK2 (M121I)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 476011	NM_004946.3(DOCK2):c.366C>T (p.Tyr122=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GBenign
Select item 2377063	NM_004946.3(DOCK2):c.367G>A (p.Asp123Asn)	DOCK2 (D123N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1081538	NM_004946.3(DOCK2):c.399A>G (p.Ser133=)	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 952473	NM_004946.3(DOCK2):c.416A>T (p.Asp139Val)	DOCK2 (D139V)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 2043478	NM_004946.3(DOCK2):c.423G>A (p.Leu141=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1141241	NM_004946.3(DOCK2):c.447G>A (p.Thr149=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 2420389	NM_004946.3(DOCK2):c.454A>G (p.Ile152Val)	DOCK2 (I152V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1078656	NM_004946.3(DOCK2):c.462T>C (p.Tyr154=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 728129	NM_004946.3(DOCK2):c.468C>T (p.Asn156=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GLikely benign
Select item 1441824	NM_004946.3(DOCK2):c.470A>G (p.Lys157Arg)	DOCK2 (K157R)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 2093915	NM_004946.3(DOCK2):c.470+5C>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GUncertain significance
Select item 1609760	NM_004946.3(DOCK2):c.470+7T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GLikely benign

<< First< Prev

Page of 11