ClinVar for Gene (Select 1793) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
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 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 3109984	NM_001039762.3(INSYN2A):c.73G>T (p.Ala25Ser)	DOCK1, INSYN2A (A25S)	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
Select item 3109977	NM_001039762.3(INSYN2A):c.649T>C (p.Ser217Pro)	DOCK1, INSYN2A (S217P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109976	NM_001039762.3(INSYN2A):c.641G>A (p.Arg214Gln)	DOCK1, INSYN2A (R214Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109975	NM_001039762.3(INSYN2A):c.614G>C (p.Gly205Ala)	DOCK1, INSYN2A (G205A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109974	NM_001039762.3(INSYN2A):c.596C>T (p.Pro199Leu)	DOCK1, INSYN2A (P199L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109973	NM_001039762.3(INSYN2A):c.548C>T (p.Thr183Ile)	DOCK1, INSYN2A (T183I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109972	NM_001039762.3(INSYN2A):c.491C>T (p.Ala164Val)	DOCK1, INSYN2A (A164V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109971	NM_001039762.3(INSYN2A):c.418A>G (p.Asn140Asp)	DOCK1, INSYN2A (N140D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109970	NM_001039762.3(INSYN2A):c.365G>A (p.Arg122His)	DOCK1, INSYN2A (R122H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109969	NM_001039762.3(INSYN2A):c.313G>A (p.Val105Met)	DOCK1, INSYN2A (V105M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109968	NM_001039762.3(INSYN2A):c.295G>A (p.Val99Ile)	DOCK1, INSYN2A (V99I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109967	NM_001039762.3(INSYN2A):c.254G>A (p.Arg85His)	DOCK1, INSYN2A (R85H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109966	NM_001039762.3(INSYN2A):c.244G>A (p.Ala82Thr)	DOCK1, INSYN2A (A82T)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 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 3084911	NM_001290223.2(DOCK1):c.5636C>T (p.Ser1879Leu)	DOCK1 (S1818L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084910	NM_001290223.2(DOCK1):c.5441C>T (p.Ala1814Val)	DOCK1 (A1724V +12 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084909	NM_001290223.2(DOCK1):c.5368C>T (p.Pro1790Ser)	DOCK1 (P1700S +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084908	NM_001290223.2(DOCK1):c.5150A>G (p.Asp1717Gly)	DOCK1 (D1631G +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084907	NM_001290223.2(DOCK1):c.5015C>T (p.Ser1672Phe)	DOCK1 (S1387F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084906	NM_001290223.2(DOCK1):c.4903G>A (p.Val1635Ile)	DOCK1 (V1668I +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084905	NM_001290223.2(DOCK1):c.4609A>G (p.Ser1537Gly)	DOCK1 (S1476G +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084904	NM_001290223.2(DOCK1):c.4394G>A (p.Arg1465Gln)	DOCK1 (R1379Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084903	NM_001290223.2(DOCK1):c.3845G>A (p.Arg1282Gln)	DOCK1 (R1240Q +8 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 3084900	NM_001290223.2(DOCK1):c.3545A>G (p.Lys1182Arg)	DOCK1 (K1128R +8 more)	Single nucleotide variant (missense variant)	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 3084898	NM_001290223.2(DOCK1):c.3001G>A (p.Val1001Ile)	DOCK1 (V959I +8 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 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 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 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063168	GRCh37/hg19 10q26.2(chr10:128766924-129095479)x1	DOCK1, INSYN2A	Copy number loss	not specified	GUncertain significance
Select item 3063167	GRCh37/hg19 10q26.2(chr10:128334180-129645457)x1	DOCK1, FOXI2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063145	GRCh37/hg19 10q26.2(chr10:128766924-128900593)x1	DOCK1	Copy number loss	not specified	GUncertain significance
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 2688963	NM_001290223.2(DOCK1):c.3262A>T (p.Arg1088Ter)	DOCK1 (R1016* +8 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2685392	GRCh37/hg19 10q26.2(chr10:128938760-129015808)x1	DOCK1, INSYN2A	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2685390	GRCh37/hg19 10q26.2(chr10:128785414-128920556)x1	DOCK1	Copy number loss	not provided	GUncertain significance
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2681246	NM_001290223.2(DOCK1):c.5144A>G (p.Lys1715Arg)	DOCK1 (K1430R +12 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2640961	NM_001290223.2(DOCK1):c.4644C>T (p.Asn1548=)	DOCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640960	NM_001290223.2(DOCK1):c.2550C>T (p.Pro850=)	DOCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2619770	NM_001290223.2(DOCK1):c.5624G>T (p.Arg1875Leu)	DOCK1 (R1590L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619036	NM_001290223.2(DOCK1):c.4407A>C (p.Lys1469Asn)	DOCK1 (K1420N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615087	NM_001290223.2(DOCK1):c.4835G>A (p.Arg1612Lys)	DOCK1 (R1526K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614754	NM_001290223.2(DOCK1):c.3269T>C (p.Met1090Thr)	DOCK1 (M1036T +8 more)	Single nucleotide variant (missense variant)	not specified	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 2611013	NM_001290223.2(DOCK1):c.3583G>A (p.Val1195Ile)	DOCK1 (V1146I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2608093	NM_001290223.2(DOCK1):c.5623C>T (p.Arg1875Cys)	DOCK1 (R1826C +12 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 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 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2568659	NM_001039762.3(INSYN2A):c.37A>G (p.Thr13Ala)	DOCK1, INSYN2A (T13A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 2553667	NM_001290223.2(DOCK1):c.5642A>G (p.Asp1881Gly)	DOCK1 (D1596G +12 more)	Single nucleotide variant (missense variant)	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 2549072	NM_001290223.2(DOCK1):c.3600A>T (p.Glu1200Asp)	DOCK1 (E1151D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547585	NM_001290223.2(DOCK1):c.4019A>G (p.Lys1340Arg)	DOCK1 (K1250R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545206	NM_001290223.2(DOCK1):c.3353C>T (p.Thr1118Met)	DOCK1 (T1028M +8 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 2532215	NM_001290223.2(DOCK1):c.4946G>A (p.Arg1649His)	DOCK1 (R1577H +12 more)	Single nucleotide variant (missense variant)	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

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