ClinVar for Gene (Select 1795) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 181

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357662	NM_004947.5(DOCK3):c.3915+10A>G	DOCK3	Single nucleotide variant (intron variant)	DOCK3-related disorder	GLikely benign
Select item 3353016	NM_004947.5(DOCK3):c.3753C>T (p.Ala1251=)	DOCK3	Single nucleotide variant (synonymous variant)	DOCK3-related disorder	GLikely benign
Select item 3350497	NM_004947.5(DOCK3):c.2535_2538dup (p.Ser847fs)	DOCK3 (S847fs)	Duplication (frameshift variant)	DOCK3-related disorder	GLikely pathogenic
Select item 3342000	NM_004947.5(DOCK3):c.399C>G (p.His133Gln)	DOCK3 (H133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273334	NM_004947.5(DOCK3):c.5915C>T (p.Ala1972Val)	DOCK3 (A1972V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273333	NM_004947.5(DOCK3):c.1936G>C (p.Asp646His)	DOCK3 (D646H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273332	NM_004947.5(DOCK3):c.5795A>G (p.Tyr1932Cys)	DOCK3 (Y1932C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273331	NM_004947.5(DOCK3):c.5848G>A (p.Ala1950Thr)	DOCK3 (A1950T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273330	NM_004947.5(DOCK3):c.4402G>A (p.Glu1468Lys)	DOCK3 (E1468K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273329	NM_004947.5(DOCK3):c.5560C>A (p.Leu1854Ile)	DOCK3 (L1854I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273328	NM_004947.5(DOCK3):c.347G>A (p.Arg116His)	DOCK3 (R116H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273327	NM_004947.5(DOCK3):c.228A>C (p.Glu76Asp)	DOCK3 (E76D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273326	NM_004947.5(DOCK3):c.5972T>A (p.Val1991Glu)	DOCK3 (V1991E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273325	NM_004947.5(DOCK3):c.5948C>T (p.Pro1983Leu)	DOCK3 (P1983L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273324	NM_004947.5(DOCK3):c.3763A>G (p.Thr1255Ala)	DOCK3 (T1255A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257652	NM_004947.5(DOCK3):c.633G>C (p.Met211Ile)	DOCK3 (M211I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257229	NM_004947.5(DOCK3):c.1944C>G (p.Leu648=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257043	NM_004947.5(DOCK3):c.4185G>A (p.Pro1395=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233706	NM_004947.5(DOCK3):c.1038G>A (p.Thr346=)	DOCK3	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3085008	NM_004947.5(DOCK3):c.628C>T (p.Arg210Trp)	DOCK3 (R210W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085007	NM_004947.5(DOCK3):c.6080G>A (p.Arg2027Gln)	DOCK3 (R2027Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085006	NM_004947.5(DOCK3):c.6040G>A (p.Ala2014Thr)	DOCK3 (A2014T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3085005	NM_004947.5(DOCK3):c.6014G>A (p.Arg2005His)	DOCK3 (R2005H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085004	NM_004947.5(DOCK3):c.59C>T (p.Ser20Phe)	DOCK3 (S20F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085003	NM_004947.5(DOCK3):c.5981G>C (p.Arg1994Pro)	DOCK3 (R1994P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085002	NM_004947.5(DOCK3):c.5945T>G (p.Leu1982Arg)	DOCK3 (L1982R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085001	NM_004947.5(DOCK3):c.5792C>T (p.Pro1931Leu)	DOCK3 (P1931L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085000	NM_004947.5(DOCK3):c.5578C>T (p.Arg1860Cys)	DOCK3 (R1860C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084999	NM_004947.5(DOCK3):c.5365C>T (p.Arg1789Cys)	DOCK3 (R1789C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084998	NM_004947.5(DOCK3):c.5360G>A (p.Arg1787Gln)	DOCK3 (R1787Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084997	NM_004947.5(DOCK3):c.4273C>G (p.Pro1425Ala)	DOCK3 (P1425A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084996	NM_004947.5(DOCK3):c.3835C>T (p.Leu1279Phe)	DOCK3 (L1279F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084995	NM_004947.5(DOCK3):c.3412G>A (p.Glu1138Lys)	DOCK3 (E1138K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084994	NM_004947.5(DOCK3):c.3381A>T (p.Arg1127Ser)	DOCK3 (R1127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084993	NM_004947.5(DOCK3):c.3349A>T (p.Ile1117Phe)	DOCK3 (I1117F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084992	NM_004947.5(DOCK3):c.3284T>C (p.Met1095Thr)	DOCK3 (M1095T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084991	NM_004947.5(DOCK3):c.2237G>A (p.Arg746Gln)	DOCK3 (R746Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084990	NM_004947.5(DOCK3):c.2183G>A (p.Arg728Gln)	DOCK3 (R728Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084989	NM_004947.5(DOCK3):c.1888C>T (p.Arg630Trp)	DOCK3 (R630W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084988	NM_004947.5(DOCK3):c.1834C>G (p.Leu612Val)	DOCK3 (L612V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084987	NM_004947.5(DOCK3):c.1504G>T (p.Gly502Cys)	DOCK3 (G502C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084986	NM_004947.5(DOCK3):c.1370T>C (p.Ile457Thr)	DOCK3 (I457T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084985	NM_004947.5(DOCK3):c.1318G>A (p.Val440Ile)	DOCK3 (V440I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065932	NM_004947.5(DOCK3):c.551A>G (p.His184Arg)	DOCK3 (H184R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	GUncertain significance
Select item 3065623	NM_004947.5(DOCK3):c.3050C>G (p.Ser1017Cys)	DOCK3 (S1017C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3058434	NM_004947.5(DOCK3):c.4788G>A (p.Gly1596=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057444	NM_004947.5(DOCK3):c.5556A>C (p.Pro1852=)	DOCK3	Single nucleotide variant (synonymous variant)	DOCK3-related disorder	GLikely benign
Select item 3057364	NM_004947.5(DOCK3):c.5412+10C>T	DOCK3	Single nucleotide variant (intron variant)	DOCK3-related disorder	GLikely benign
Select item 3053419	NM_004947.5(DOCK3):c.2028C>T (p.Asp676=)	DOCK3	Single nucleotide variant (synonymous variant)	DOCK3-related disorder	GLikely benign
Select item 3052337	NM_004947.5(DOCK3):c.324A>C (p.Lys108Asn)	DOCK3 (K108N)	Single nucleotide variant (missense variant)	DOCK3-related disorder	GLikely benign
Select item 3050699	NM_004947.5(DOCK3):c.5610C>T (p.Ser1870=)	DOCK3	Single nucleotide variant (synonymous variant)	DOCK3-related disorder	GLikely benign
Select item 3048862	NM_004947.5(DOCK3):c.295T>C (p.Leu99=)	DOCK3	Single nucleotide variant (synonymous variant)	DOCK3-related disorder	GLikely benign
Select item 3045070	NM_004947.5(DOCK3):c.5523C>T (p.Asp1841=)	DOCK3	Single nucleotide variant (synonymous variant)	DOCK3-related disorder	GLikely benign
Select item 3044189	NM_004947.5(DOCK3):c.2548+6T>A	DOCK3	Single nucleotide variant (intron variant)	DOCK3-related disorder	GBenign
Select item 3043188	NM_004947.5(DOCK3):c.4086G>A (p.Arg1362=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3034700	NM_004947.5(DOCK3):c.5175C>T (p.Gly1725=)	DOCK3	Single nucleotide variant (synonymous variant)	DOCK3-related disorder	GLikely benign
Select item 3025724	NM_004947.5(DOCK3):c.4089G>A (p.Lys1363=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025029	NM_004947.5(DOCK3):c.4341C>T (p.Arg1447=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681247	NM_004947.5(DOCK3):c.2434G>A (p.Val812Met)	DOCK3 (V812M)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2653869	NM_004947.5(DOCK3):c.6058C>T (p.Arg2020Cys)	DOCK3 (R2020C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653868	NM_004947.5(DOCK3):c.5341TTG[1] (p.Leu1783del)	DOCK3 (L1783del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2653867	NM_004947.5(DOCK3):c.3549C>T (p.Arg1183=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653866	NM_004947.5(DOCK3):c.3486A>G (p.Leu1162=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653865	NM_004947.5(DOCK3):c.2727C>T (p.Asp909=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653864	NM_004947.5(DOCK3):c.1977C>T (p.Tyr659=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653863	NM_004947.5(DOCK3):c.1584A>C (p.Ser528=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653862	NM_004947.5(DOCK3):c.960G>A (p.Ala320=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637227	NM_004947.5(DOCK3):c.1037+1G>A	DOCK3	Single nucleotide variant (splice donor variant)	DOCK3-related disorder	GLikely pathogenic
Select item 2634425	NM_004947.5(DOCK3):c.4217del (p.Pro1406fs)	DOCK3 (P1406fs)	Deletion (frameshift variant)	DOCK3-related disorder	GLikely pathogenic
Select item 2634415	NM_004947.5(DOCK3):c.5941del (p.Arg1981fs)	DOCK3 (R1981fs)	Deletion (frameshift variant)	DOCK3-related disorder	GUncertain significance
Select item 2630324	NM_004947.5(DOCK3):c.33del (p.Gly11_Val12insTer)	DOCK3	Deletion (frameshift variant)	DOCK3-related disorder	GUncertain significance
Select item 2628392	NM_004947.5(DOCK3):c.1084C>T (p.Arg362Ter)	DOCK3 (R362*)	Single nucleotide variant (nonsense)	DOCK3-related disorder	GLikely pathogenic
Select item 2621351	NM_004947.5(DOCK3):c.6083G>C (p.Gly2028Ala)	DOCK3 (G2028A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619979	NM_004947.5(DOCK3):c.1715A>G (p.Tyr572Cys)	DOCK3 (Y572C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619564	NM_004947.5(DOCK3):c.4861A>G (p.Met1621Val)	DOCK3 (M1621V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607603	NM_004947.5(DOCK3):c.1854C>G (p.Phe618Leu)	DOCK3 (F618L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607087	NM_004947.5(DOCK3):c.128A>T (p.Tyr43Phe)	DOCK3 (Y43F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597026	NM_004947.5(DOCK3):c.5789C>A (p.Pro1930Gln)	DOCK3 (P1930Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596842	NM_004947.5(DOCK3):c.785C>T (p.Pro262Leu)	DOCK3 (P262L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573088	NM_004947.5(DOCK3):c.2221C>T (p.Arg741Trp)	DOCK3 (R741W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	GUncertain significance
Select item 2572259	NM_004947.5(DOCK3):c.3801G>A (p.Leu1267=)	DOCK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2572255	NM_004947.5(DOCK3):c.602T>C (p.Met201Thr)	DOCK3 (M201T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560420	NM_004947.5(DOCK3):c.5095G>T (p.Gly1699Cys)	DOCK3 (G1699C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2554406	NM_004947.5(DOCK3):c.1210G>T (p.Ala404Ser)	DOCK3 (A404S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535882	NM_004947.5(DOCK3):c.5552C>T (p.Pro1851Leu)	DOCK3 (P1851L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524884	NM_004947.5(DOCK3):c.3967A>C (p.Ser1323Arg)	DOCK3 (S1323R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510122	NM_004947.5(DOCK3):c.868G>A (p.Val290Ile)	DOCK3 (V290I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508838	NM_004947.5(DOCK3):c.505G>A (p.Val169Ile)	DOCK3 (V169I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508486	NM_004947.5(DOCK3):c.5407G>A (p.Gly1803Arg)	DOCK3 (G1803R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484098	NM_004947.5(DOCK3):c.1409A>G (p.Asn470Ser)	DOCK3 (N470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475923	NM_004947.5(DOCK3):c.1595G>A (p.Arg532His)	DOCK3 (R532H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472799	NM_004947.5(DOCK3):c.2725G>A (p.Asp909Asn)	DOCK3 (D909N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471521	NM_004947.5(DOCK3):c.5962G>A (p.Asp1988Asn)	DOCK3 (D1988N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468115	NM_004947.5(DOCK3):c.41T>C (p.Ile14Thr)	DOCK3 (I14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441946	NM_004947.5(DOCK3):c.442G>A (p.Val148Met)	DOCK3 (V148M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2440984	NM_004947.5(DOCK3):c.1868T>C (p.Met623Thr)	DOCK3 (M623T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	GUncertain significance
Select item 2408806	NM_004947.5(DOCK3):c.5149G>A (p.Ala1717Thr)	DOCK3 (A1717T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406260	NM_004947.5(DOCK3):c.5729G>A (p.Arg1910His)	DOCK3 (R1910H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405310	NM_004947.5(DOCK3):c.4577G>A (p.Ser1526Asn)	DOCK3 (S1526N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2