DOCK4[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 178

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 545340	Single allele	DOCK4, DOCK4-AS1 +29 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 152193	GRCh38/hg38 7q31.1(chr7:111452375-111771993)x1	DOCK4, IMMP2L +5 more	Copy number loss	See cases	GUncertain significance
Select item 149117	GRCh38/hg38 7q31.1(chr7:111465095-111830755)x1	DOCK4, DOCK4-AS1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 153551	GRCh38/hg38 7q31.1(chr7:111482147-111855998)x1	DOCK4, DOCK4-AS1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 144370	GRCh38/hg38 7q31.1(chr7:111693844-112335449)x3	DOCK4, DOCK4-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2627579	NM_001363540.2(DOCK4):c.5913G>T (p.Lys1971Asn)	DOCK4 (K1962N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2325243	NM_001363540.2(DOCK4):c.5908C>T (p.Arg1970Cys)	DOCK4 (R1961C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372691	NM_001363540.2(DOCK4):c.5873G>A (p.Arg1958Lys)	DOCK4 (R1958K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590014	NM_001363540.2(DOCK4):c.5869C>T (p.Arg1957Trp)	DOCK4 (R1948W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737978	NM_001363540.2(DOCK4):c.5814C>T (p.Pro1938=)	DOCK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056048	NM_001363540.2(DOCK4):c.5804C>T (p.Ser1935Leu)	DOCK4 (S1926L +1 more)	Single nucleotide variant (missense variant)	DOCK4-related disorder	GBenign
Select item 719177	NM_001363540.2(DOCK4):c.5777C>T (p.Pro1926Leu)	DOCK4 (P1926L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3032406	NM_001363540.2(DOCK4):c.5738G>A (p.Ser1913Asn)	DOCK4 (S1904N +1 more)	Single nucleotide variant (missense variant)	DOCK4-related disorder	GLikely benign
Select item 2603745	NM_001363540.2(DOCK4):c.5732C>T (p.Pro1911Leu)	DOCK4 (P1902L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509903	NM_001363540.2(DOCK4):c.5567A>G (p.Tyr1856Cys)	DOCK4 (Y1856C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085025	NM_001363540.2(DOCK4):c.5506T>C (p.Ser1836Pro)	DOCK4 (S1827P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634986	NM_001363540.2(DOCK4):c.5504C>T (p.Pro1835Leu)	DOCK4 (P1826L +1 more)	Single nucleotide variant (missense variant)	DOCK4-related disorder	GUncertain significance
Select item 782272	NM_001363540.2(DOCK4):c.5491C>A (p.Gln1831Lys)	DOCK4 (Q1822K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3085024	NM_001363540.2(DOCK4):c.5464G>A (p.Gly1822Arg)	DOCK4 (G1813R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533337	NM_001363540.2(DOCK4):c.5462C>T (p.Ala1821Val)	DOCK4 (A1812V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612415	NM_001363540.2(DOCK4):c.5450C>A (p.Ser1817Tyr)	DOCK4 (S1808Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364382	NM_001363540.2(DOCK4):c.5438C>T (p.Thr1813Met)	DOCK4 (T1804M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057729	NM_001363540.2(DOCK4):c.5418T>A (p.Thr1806=)	DOCK4	Single nucleotide variant (synonymous variant)	DOCK4-related disorder	GLikely benign
Select item 2545959	NM_001363540.2(DOCK4):c.5389C>T (p.Pro1797Ser)	DOCK4 (P1797S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343525	NM_001363540.2(DOCK4):c.5366C>T (p.Ser1789Leu)	DOCK4 (S1780L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623068	NM_001363540.2(DOCK4):c.5350G>C (p.Glu1784Gln)	DOCK4 (E1784Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622024	NM_001363540.2(DOCK4):c.5315C>T (p.Pro1772Leu)	DOCK4 (P1772L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301608	NM_001363540.2(DOCK4):c.5314C>T (p.Pro1772Ser)	DOCK4 (P1763S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326978	NM_001363540.2(DOCK4):c.5187G>C (p.Glu1729Asp)	DOCK4 (E1720D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085023	NM_001363540.2(DOCK4):c.4853G>A (p.Arg1618His)	DOCK4 (R1609H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205377	NM_001363540.2(DOCK4):c.4771G>A (p.Val1591Met)	DOCK4 (V1582M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732238	NM_001363540.2(DOCK4):c.4736G>A (p.Arg1579Lys)	DOCK4 (R1579K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775254	NM_001363540.2(DOCK4):c.4545T>C (p.Asn1515=)	DOCK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2238795	NM_001363540.2(DOCK4):c.4459A>C (p.Asn1487His)	DOCK4 (N1478H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085022	NM_001363540.2(DOCK4):c.4421A>G (p.Glu1474Gly)	DOCK4 (E1465G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040477	NM_001363540.2(DOCK4):c.4417-2A>G	DOCK4	Single nucleotide variant (splice acceptor variant)	DOCK4-related disorder	GUncertain significance
Select item 3085021	NM_001363540.2(DOCK4):c.4385C>G (p.Ser1462Cys)	DOCK4 (S1453C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350969	NM_001363540.2(DOCK4):c.4330A>G (p.Ser1444Gly)	DOCK4 (S1435G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628428	NM_001363540.2(DOCK4):c.4286G>A (p.Arg1429Gln)	DOCK4, LOC126860152 (R1420Q +1 more)	Single nucleotide variant (missense variant)	DOCK4-related disorder	GUncertain significance
Select item 2480811	NM_001363540.2(DOCK4):c.4241A>G (p.Lys1414Arg)	DOCK4, LOC126860152 (K1405R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726093	NM_001363540.2(DOCK4):c.4215G>A (p.Gln1405=)	DOCK4, LOC126860152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721496	NM_001363540.2(DOCK4):c.4074A>G (p.Gln1358=)	DOCK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2481483	NM_001363540.2(DOCK4):c.4063G>C (p.Glu1355Gln)	DOCK4 (E1346Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627578	NM_001363540.2(DOCK4):c.4040G>A (p.Arg1347Gln)	DOCK4 (R1338Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627582	NM_001363540.2(DOCK4):c.3937del (p.Asp1313fs)	DOCK4 (D1304fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2522275	NM_001363540.2(DOCK4):c.3879G>C (p.Glu1293Asp)	DOCK4 (E1293D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255569	NM_001363540.2(DOCK4):c.3873G>T (p.Gln1291His)	DOCK4 (Q1282H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709236	NM_001363540.2(DOCK4):c.3792G>T (p.Leu1264=)	DOCK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3033254	NM_001363540.2(DOCK4):c.3778C>T (p.Arg1260Cys)	DOCK4 (R1251C +1 more)	Single nucleotide variant (missense variant)	DOCK4-related disorder	GUncertain significance
Select item 3085019	NM_001363540.2(DOCK4):c.3731G>A (p.Arg1244Gln)	DOCK4 (R1235Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146458	GRCh38/hg38 7q31.1(chr7:111771934-112414850)x3	DOCK4, DOCK4-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 545341	NC_000007.14:g.(?_111777402)_(111865491_?)del	DOCK4, DOCK4-AS1	Deletion	Autism	GLikely pathogenic
Select item 2205276	NM_001363540.2(DOCK4):c.3675T>G (p.Phe1225Leu)	DOCK4 (F1225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468616	NM_001363540.2(DOCK4):c.3647A>G (p.Tyr1216Cys)	DOCK4 (Y1207C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222176	NM_001363540.2(DOCK4):c.3449G>A (p.Arg1150Gln)	DOCK4 (R1141Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459834	NM_001363540.2(DOCK4):c.3225G>T (p.Leu1075Phe)	DOCK4 (L1075F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627577	NM_001363540.2(DOCK4):c.3200T>C (p.Ile1067Thr)	DOCK4 (I1067T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2373392	NM_001363540.2(DOCK4):c.3176A>G (p.Lys1059Arg)	DOCK4 (K1059R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710207	NM_001363540.2(DOCK4):c.3167G>A (p.Gly1056Glu)	DOCK4 (G1056E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2627576	NM_001363540.2(DOCK4):c.3131T>C (p.Met1044Thr)	DOCK4, DOCK4-AS1 (M1044T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627583	NM_001363540.2(DOCK4):c.3125T>C (p.Val1042Ala)	DOCK4, DOCK4-AS1 (V1042A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3030775	NM_001363540.2(DOCK4):c.3112G>A (p.Gly1038Ser)	DOCK4, DOCK4-AS1 (G1038S)	Single nucleotide variant (missense variant)	DOCK4-related disorder	GUncertain significance
Select item 722945	NM_001363540.2(DOCK4):c.3083C>A (p.Ser1028Tyr)	DOCK4, DOCK4-AS1 (S1028Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 736037	NM_001363540.2(DOCK4):c.3030C>T (p.Leu1010=)	DOCK4, DOCK4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338155	NM_001363540.2(DOCK4):c.2980T>C (p.Phe994Leu)	DOCK4, DOCK4-AS1 (F994L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477232	NM_001363540.2(DOCK4):c.2966C>G (p.Ala989Gly)	DOCK4, DOCK4-AS1 (A989G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627575	NM_001363540.2(DOCK4):c.2945C>T (p.Thr982Ile)	DOCK4, DOCK4-AS1 (T982I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 730741	NM_001363540.2(DOCK4):c.2937T>C (p.Ile979=)	DOCK4, DOCK4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2391168	NM_001363540.2(DOCK4):c.2935A>G (p.Ile979Val)	DOCK4, DOCK4-AS1 (I979V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334884	NM_001363540.2(DOCK4):c.2882C>T (p.Pro961Leu)	DOCK4 (P961L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717552	NM_001363540.2(DOCK4):c.2878C>A (p.Arg960Ser)	DOCK4 (R960S)	Single nucleotide variant (missense variant)	DOCK4-related disorder +1 more	GLikely benign
Select item 3085017	NM_001363540.2(DOCK4):c.2867G>A (p.Arg956Gln)	DOCK4 (R956Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390422	NM_001363540.2(DOCK4):c.2851A>G (p.Ile951Val)	DOCK4 (I951V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085016	NM_001363540.2(DOCK4):c.2831T>A (p.Leu944Gln)	DOCK4 (L944Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525492	NM_001363540.2(DOCK4):c.2771G>A (p.Arg924Gln)	DOCK4 (R924Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627581	NM_001363540.2(DOCK4):c.2770C>T (p.Arg924Ter)	DOCK4 (R924*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 2664852	NM_001363540.2(DOCK4):c.2689C>T (p.Pro897Ser)	DOCK4 (P897S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 761858	NM_001363540.2(DOCK4):c.2412G>A (p.Leu804=)	DOCK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411467	NM_001363540.2(DOCK4):c.2342G>A (p.Arg781Gln)	DOCK4 (R781Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085014	NM_001363540.2(DOCK4):c.2336A>G (p.Asp779Gly)	DOCK4 (D779G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403864	NM_001363540.2(DOCK4):c.2247G>C (p.Glu749Asp)	DOCK4, LOC126860153 (E749D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085013	NM_001363540.2(DOCK4):c.2190G>C (p.Glu730Asp)	DOCK4, LOC126860153 (E730D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527136	NM_001363540.2(DOCK4):c.2081G>T (p.Arg694Leu)	DOCK4 (R694L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271154	NM_001363540.2(DOCK4):c.2063G>A (p.Arg688Gln)	DOCK4 (R688Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745273	NM_001363540.2(DOCK4):c.2028-9G>A	DOCK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2541576	NM_001363540.2(DOCK4):c.1979T>C (p.Val660Ala)	DOCK4 (V660A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522871	NM_001363540.2(DOCK4):c.1715T>C (p.Phe572Ser)	DOCK4 (F572S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085011	NM_001363540.2(DOCK4):c.1699T>C (p.Phe567Leu)	DOCK4 (F567L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408214	NM_001363540.2(DOCK4):c.1697C>T (p.Ser566Phe)	DOCK4 (S566F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085010	NM_001363540.2(DOCK4):c.1649G>T (p.Gly550Val)	DOCK4 (G550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771728	NM_001363540.2(DOCK4):c.1603A>G (p.Asn535Asp)	DOCK4 (N535D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 147412	GRCh38/hg38 7q31.1(chr7:111889459-112144314)x1	DOCK4, LOC129999133 +1 more	Copy number loss	See cases	GUncertain significance
Select item 785230	NM_001363540.2(DOCK4):c.1416A>G (p.Lys472=)	DOCK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3085009	NM_001363540.2(DOCK4):c.1327T>G (p.Ser443Ala)	DOCK4 (S443A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403555	NM_001363540.2(DOCK4):c.1280C>T (p.Thr427Met)	DOCK4 (T427M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627585	NM_001363540.2(DOCK4):c.1258G>A (p.Val420Met)	DOCK4 (V420M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance

<< First< Prev

Page of 2