DOCK1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 244

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 2473646	NM_001290223.2(DOCK1):c.211A>G (p.Ile71Val)	DOCK1 (I43V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482371	NM_001290223.2(DOCK1):c.286C>G (p.Leu96Val)	DOCK1 (L68V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084899	NM_001290223.2(DOCK1):c.347G>A (p.Arg116Gln)	DOCK1 (R116Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535530	NM_001290223.2(DOCK1):c.349A>G (p.Ser117Gly)	DOCK1 (S89G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084902	NM_001290223.2(DOCK1):c.353T>G (p.Val118Gly)	DOCK1 (V118G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337945	NM_001290223.2(DOCK1):c.356G>A (p.Arg119Gln)	DOCK1 (R119Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541727	NM_001290223.2(DOCK1):c.377T>C (p.Ile126Thr)	DOCK1 (I126T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275468	NM_001290223.2(DOCK1):c.386G>A (p.Arg129Gln)	DOCK1 (R129Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 521687	NM_001290223.2(DOCK1):c.436AAG[2] (p.Lys148del)	DOCK1 (K148del +2 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542938	NM_001290223.2(DOCK1):c.577A>G (p.Lys193Glu)	DOCK1 (K205E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279341	NM_001290223.2(DOCK1):c.640C>G (p.Gln214Glu)	DOCK1 (Q186E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084913	NM_001290223.2(DOCK1):c.775T>C (p.Tyr259His)	DOCK1 (Y231H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084914	NM_001290223.2(DOCK1):c.862A>G (p.Lys288Glu)	DOCK1, LOC126861085 (K260E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084915	NM_001290223.2(DOCK1):c.875G>T (p.Arg292Met)	DOCK1, LOC126861085 (R292M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289841	NM_001290223.2(DOCK1):c.916C>T (p.Arg306Cys)	DOCK1, LOC126861085 (R306C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333295	NM_001290223.2(DOCK1):c.934A>G (p.Asn312Asp)	DOCK1, LOC126861085 (N324D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084916	NM_001290223.2(DOCK1):c.956C>T (p.Ser319Leu)	DOCK1, LOC126861085 (S291L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084890	NM_001290223.2(DOCK1):c.1187A>G (p.Asn396Ser)	DOCK1 (N347S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550670	NM_001290223.2(DOCK1):c.1249C>G (p.Arg417Gly)	DOCK1, LOC105378552 (R345G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084891	NM_001290223.2(DOCK1):c.1276A>G (p.Arg426Gly)	DOCK1, LOC105378552 (R141G +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3084892	NM_001290223.2(DOCK1):c.1349A>G (p.Tyr450Cys)	DOCK1, LOC105378552 (Y378C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492956	NM_001290223.2(DOCK1):c.1358T>C (p.Leu453Ser)	DOCK1, LOC105378552 (L168S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326529	NM_001290223.2(DOCK1):c.1453C>T (p.His485Tyr)	DOCK1, LOC105378552 (H413Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640959	NM_001290223.2(DOCK1):c.1485G>A (p.Ala495=)	DOCK1, LOC105378552	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2477406	NM_001290223.2(DOCK1):c.1531C>T (p.Arg511Cys)	DOCK1, LOC105378552 (R439C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084893	NM_001290223.2(DOCK1):c.1549A>G (p.Lys517Glu)	DOCK1, LOC105378552 (K475E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084894	NM_001290223.2(DOCK1):c.1552G>A (p.Val518Met)	DOCK1, LOC105378552 (V464M +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2599713	NM_001290223.2(DOCK1):c.1573G>A (p.Val525Ile)	DOCK1, LOC105378552 (V453I +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2469924	NM_001290223.2(DOCK1):c.1579C>T (p.Arg527Cys)	DOCK1, LOC105378552 (R473C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278148	NM_001290223.2(DOCK1):c.1702G>A (p.Gly568Arg)	DOCK1 (G514R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258907	NM_001290223.2(DOCK1):c.1819G>A (p.Gly607Ser)	DOCK1 (G553S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558883	NM_001290223.2(DOCK1):c.1852A>G (p.Ile618Val)	DOCK1 (I546V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084895	NM_001290223.2(DOCK1):c.1877C>T (p.Ser626Phe)	DOCK1 (S617F +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491434	NM_001290223.2(DOCK1):c.1880C>T (p.Thr627Met)	DOCK1 (T342M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487454	NM_001290223.2(DOCK1):c.1986A>C (p.Lys662Asn)	DOCK1 (K590N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273189	NM_001290223.2(DOCK1):c.2012T>A (p.Phe671Tyr)	DOCK1 (F662Y +7 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 521686	NM_001290223.2(DOCK1):c.2053dup (p.Glu685fs)	DOCK1 (E664fs +7 more)	Duplication (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2262914	NM_001290223.2(DOCK1):c.2214A>T (p.Lys738Asn)	DOCK1 (K666N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497728	NM_001290223.2(DOCK1):c.2249C>T (p.Pro750Leu)	DOCK1 (P465L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3084896	NM_001290223.2(DOCK1):c.2261A>G (p.Glu754Gly)	DOCK1 (E705G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602770	NM_001290223.2(DOCK1):c.2280G>A (p.Met760Ile)	DOCK1 (M739I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554569	NM_001290223.2(DOCK1):c.2324T>A (p.Ile775Asn)	DOCK1 (I490N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218314	NM_001290223.2(DOCK1):c.2333A>G (p.Asn778Ser)	DOCK1 (N769S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224441	NM_001290223.2(DOCK1):c.2401A>G (p.Asn801Asp)	DOCK1 (N516D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312804	NM_001290223.2(DOCK1):c.2430G>T (p.Gln810His)	DOCK1 (Q525H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312885	NM_001290223.2(DOCK1):c.2434G>A (p.Val812Ile)	DOCK1 (V770I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519457	NM_001290223.2(DOCK1):c.2521A>G (p.Met841Val)	DOCK1 (M751V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332536	NM_001290223.2(DOCK1):c.2543A>G (p.Asn848Ser)	DOCK1 (N563S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640960	NM_001290223.2(DOCK1):c.2550C>T (p.Pro850=)	DOCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608916	NM_001290223.2(DOCK1):c.2619G>T (p.Gln873His)	DOCK1 (Q852H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307363	NM_001290223.2(DOCK1):c.2740A>G (p.Arg914Gly)	DOCK1 (R842G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623774	NM_001290223.2(DOCK1):c.2784G>A (p.Met928Ile)	DOCK1 (M856I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1333365	NM_001290223.2(DOCK1):c.2791C>T (p.Leu931Phe)	DOCK1 (L646F +8 more)	Single nucleotide variant (missense variant)	DOCK1-related disorder	GUncertain significance
Select item 2613427	NM_001290223.2(DOCK1):c.2800A>C (p.Thr934Pro)	DOCK1 (T649P +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554325	NM_001290223.2(DOCK1):c.2826G>T (p.Met942Ile)	DOCK1 (M657I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249051	NM_001290223.2(DOCK1):c.2833G>T (p.Asp945Tyr)	DOCK1 (D660Y +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109965	NM_001039762.3(INSYN2A):c.1414G>A (p.Gly472Arg)	DOCK1, INSYN2A (G472R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526372	NM_001039762.3(INSYN2A):c.1322T>C (p.Ile441Thr)	DOCK1, INSYN2A (I441T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109963	NM_001039762.3(INSYN2A):c.1069G>A (p.Asp357Asn)	DOCK1, INSYN2A (D357N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109962	NM_001039762.3(INSYN2A):c.1046T>C (p.Ile349Thr)	DOCK1, INSYN2A (I349T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109961	NM_001039762.3(INSYN2A):c.1019T>C (p.Val340Ala)	DOCK1, INSYN2A (V340A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109990	NM_001039762.3(INSYN2A):c.956G>A (p.Ser319Asn)	DOCK1, INSYN2A (S319N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109989	NM_001039762.3(INSYN2A):c.902C>T (p.Ser301Leu)	DOCK1, INSYN2A (S301L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508988	NM_001039762.3(INSYN2A):c.877C>A (p.His293Asn)	DOCK1, INSYN2A (H293N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109988	NM_001039762.3(INSYN2A):c.868A>G (p.Arg290Gly)	DOCK1, INSYN2A (R290G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109987	NM_001039762.3(INSYN2A):c.863G>A (p.Arg288Gln)	DOCK1, INSYN2A (R288Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109986	NM_001039762.3(INSYN2A):c.859G>C (p.Glu287Gln)	DOCK1, INSYN2A (E287Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109985	NM_001039762.3(INSYN2A):c.826G>A (p.Ala276Thr)	DOCK1, INSYN2A (A276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109983	NM_001039762.3(INSYN2A):c.698G>A (p.Gly233Glu)	DOCK1, INSYN2A (G233E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109982	NM_001039762.3(INSYN2A):c.695G>A (p.Arg232Gln)	DOCK1, INSYN2A (R232Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109980	NM_001039762.3(INSYN2A):c.673C>A (p.Leu225Ile)	DOCK1, INSYN2A (L225I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109979	NM_001039762.3(INSYN2A):c.661G>T (p.Asp221Tyr)	DOCK1, INSYN2A (D221Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109978	NM_001039762.3(INSYN2A):c.661G>A (p.Asp221Asn)	DOCK1, INSYN2A (D221N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 3