DOCK9[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 204

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 150153	GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1	LOC130010040, LOC130010041 +236 more	Copy number loss	See cases	GPathogenic
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	LOC124946325, LOC124946326 +271 more	Copy number loss	See cases	GPathogenic
Select item 58279	GRCh38/hg38 13q32.2-32.3(chr13:97674476-99498445)x3	DOCK9, DOCK9-AS1 +98 more	Copy number gain	See cases	GUncertain significance
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	BIVM, BIVM-ERCC5 +184 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2557418	NM_001366683.2(DOCK9):c.6058G>A (p.Glu2020Lys)	DOCK9 (E2001K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285255	NM_001366683.2(DOCK9):c.6050C>T (p.Ala2017Val)	DOCK9 (A2031V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790370	NM_001366683.2(DOCK9):c.6036C>T (p.Cys2012=)	DOCK9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3273439	NM_001366683.2(DOCK9):c.5933T>C (p.Leu1978Pro)	DOCK9 (L1981P +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350674	NM_001366683.2(DOCK9):c.5843G>A (p.Arg1948Gln)	DOCK9 (R1940Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609803	NM_001366683.2(DOCK9):c.5707C>T (p.Arg1903Trp)	DOCK9 (R1895W +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513986	NM_001366683.2(DOCK9):c.5692G>A (p.Glu1898Lys)	DOCK9 (E1867K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520748	NM_001366683.2(DOCK9):c.5686G>C (p.Gly1896Arg)	DOCK9 (G1911R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474035	NM_001366683.2(DOCK9):c.5629A>C (p.Asn1877His)	DOCK9 (N1880H +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273432	NM_001366683.2(DOCK9):c.5519A>T (p.Asn1840Ile)	DOCK9 (N1809I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085140	NM_001366683.2(DOCK9):c.5487T>A (p.Asn1829Lys)	DOCK9, LOC126861821 (N1810K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228478	NM_001366683.2(DOCK9):c.5456A>G (p.Lys1819Arg)	DOCK9, LOC126861821 (K1800R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347984	NM_001366683.2(DOCK9):c.5287G>T (p.Ala1763Ser)	DOCK9 (A1741S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085139	NM_001366683.2(DOCK9):c.5203G>A (p.Asp1735Asn)	DOCK9 (D1704N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781704	NM_001366683.2(DOCK9):c.5127C>T (p.Asn1709=)	DOCK9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2478966	NM_001366683.2(DOCK9):c.5071A>C (p.Ile1691Leu)	DOCK9 (I1692L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593878	NM_001366683.2(DOCK9):c.5047G>A (p.Ala1683Thr)	DOCK9 (A1652T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255726	NM_001366683.2(DOCK9):c.5023+908C>T	DOCK9 (P1681L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085138	NM_001366683.2(DOCK9):c.4954G>A (p.Asp1652Asn)	DOCK9 (D1621N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224575	NM_001366683.2(DOCK9):c.4843C>A (p.Pro1615Thr)	DOCK9 (P1584T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643886	NM_001366683.2(DOCK9):c.4839C>T (p.Asn1613=)	DOCK9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085137	NM_001366683.2(DOCK9):c.4739G>A (p.Arg1580Gln)	DOCK9 (R1558Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380727	NM_001366683.2(DOCK9):c.4711A>G (p.Ile1571Val)	DOCK9 (I1549V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294782	NM_001366683.2(DOCK9):c.4669G>A (p.Val1557Ile)	DOCK9 (V1534I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236581	NM_001366683.2(DOCK9):c.4636G>A (p.Val1546Ile)	DOCK9 (V1515I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273434	NM_001366683.2(DOCK9):c.4496C>T (p.Ala1499Val)	DOCK9 (A1468V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290061	NM_001366683.2(DOCK9):c.4481C>T (p.Ala1494Val)	DOCK9 (A1463V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085136	NM_001366683.2(DOCK9):c.4448A>G (p.Tyr1483Cys)	DOCK9 (Y1452C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521802	NM_001366683.2(DOCK9):c.4427C>T (p.Thr1476Ile)	DOCK9 (T1445I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085135	NM_001366683.2(DOCK9):c.4403A>T (p.Glu1468Val)	DOCK9 (E1445V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730136	NM_001366683.2(DOCK9):c.4305G>A (p.Leu1435=)	DOCK9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2556062	NM_001366683.2(DOCK9):c.4286C>T (p.Thr1429Met)	DOCK9 (T1410M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085134	NM_001366683.2(DOCK9):c.4181C>G (p.Ser1394Cys)	DOCK9 (S1371C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273429	NM_001366683.2(DOCK9):c.3976T>A (p.Ser1326Thr)	DOCK9 (S1338T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237761	NM_001366683.2(DOCK9):c.3973G>C (p.Ala1325Pro)	DOCK9 (A1325P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376357	NM_001366683.2(DOCK9):c.3950C>G (p.Ala1317Gly)	DOCK9 (A1317G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273427	NM_001366683.2(DOCK9):c.3919C>G (p.Leu1307Val)	DOCK9 (L1319V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085133	NM_001366683.2(DOCK9):c.3912G>A (p.Met1304Ile)	DOCK9 (M1304I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342711	NM_001366683.2(DOCK9):c.3910A>G (p.Met1304Val)	DOCK9 (M1304V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474990	NM_001366683.2(DOCK9):c.3872G>C (p.Cys1291Ser)	DOCK9 (C1303S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273428	NM_001366683.2(DOCK9):c.3812A>G (p.Lys1271Arg)	DOCK9 (K1271R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085132	NM_001366683.2(DOCK9):c.3799A>G (p.Arg1267Gly)	DOCK9 (R1267G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525545	NM_001366683.2(DOCK9):c.3790C>T (p.Leu1264Phe)	DOCK9 (L1265F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220344	NM_001366683.2(DOCK9):c.3583G>A (p.Val1195Met)	DOCK9 (V1196M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301494	NM_001366683.2(DOCK9):c.3571G>A (p.Ala1191Thr)	DOCK9 (A1192T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085131	NM_001366683.2(DOCK9):c.3526G>A (p.Val1176Ile)	DOCK9 (V1188I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536409	NM_001366683.2(DOCK9):c.3458C>G (p.Ala1153Gly)	DOCK9 (A1153G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387175	NM_001366683.2(DOCK9):c.3443T>C (p.Phe1148Ser)	DOCK9 (F1160S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373140	NM_001366683.2(DOCK9):c.3409A>G (p.Ser1137Gly)	DOCK9 (S1138G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299594	NM_001366683.2(DOCK9):c.3385C>T (p.Arg1129Trp)	DOCK9 (R1129W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085130	NM_001366683.2(DOCK9):c.3289C>T (p.Leu1097Phe)	DOCK9 (L1098F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496167	NM_001366683.2(DOCK9):c.3236C>T (p.Pro1079Leu)	DOCK9 (P1091L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273437	NM_001366683.2(DOCK9):c.3209T>G (p.Val1070Gly)	DOCK9 (V1070G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217317	NM_001366683.2(DOCK9):c.3206G>A (p.Arg1069His)	DOCK9 (R1070H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281111	NM_001366683.2(DOCK9):c.3200T>A (p.Phe1067Tyr)	DOCK9 (F1068Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085128	NM_001366683.2(DOCK9):c.3119T>A (p.Phe1040Tyr)	DOCK9 (F1040Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277569	NM_001366683.2(DOCK9):c.3113G>A (p.Arg1038Lys)	DOCK9 (R1050K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483432	NM_001366683.2(DOCK9):c.3068A>G (p.His1023Arg)	DOCK9 (H1035R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227035	NM_001366683.2(DOCK9):c.3065A>G (p.Asn1022Ser)	DOCK9 (N1022S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678204	NM_001366683.2(DOCK9):c.3061G>A (p.Ala1021Thr)	DOCK9 (A1021T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2515441	NM_001366683.2(DOCK9):c.3011T>C (p.Met1004Thr)	DOCK9 (M1004T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085125	NM_001366683.2(DOCK9):c.2951G>A (p.Arg984Gln)	DOCK9 (R985Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399265	NM_001366683.2(DOCK9):c.2936A>G (p.Lys979Arg)	DOCK9 (K979R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246582	NM_001366683.2(DOCK9):c.2755A>G (p.Lys919Glu)	DOCK9 (K919E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259591	NM_001366683.2(DOCK9):c.2749G>A (p.Ala917Thr)	DOCK9 (A917T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281110	NM_001366683.2(DOCK9):c.2732G>A (p.Arg911Lys)	DOCK9 (R911K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085124	NM_001366683.2(DOCK9):c.2722A>C (p.Ser908Arg)	DOCK9 (S908R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751099	NM_001366683.2(DOCK9):c.2721G>A (p.Glu907=)	DOCK9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389329	NM_001366683.2(DOCK9):c.2651A>C (p.Glu884Ala)	DOCK9 (E884A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085123	NM_001366683.2(DOCK9):c.2648A>G (p.Gln883Arg)	DOCK9 (Q895R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3