DOCK6[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 591101.	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 GRCh37: Chr19:8941823-13442041 GRCh38: Chr19:8831147-13331227	ACP5, ANGPTL6, ANGPTL8, AP1M2, ATG4D, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CDC37, CDKN2D, CNN1, COL5A3, DAND5, DHPS, DNASE2, DNM2, DNMT1, DOCK6, ECSIT, EIF3G, ELAVL3, ELOF1, EPOR, FARSA, FARSA-AS1, FBXL12, FBXW9, FDX2, FDX2-ZGLP1, GADD45GIP1, GCDH, GET3, GNG14, HOOK2, ICAM1, ICAM3, ICAM4, ICAM5, IER2, ILF3, ILF3-DT, JUNB, KANK2, KEAP1, KLF1, KRI1, LDLR, LDLR-AS1, LIMASI, LINC02926, LOC100505555, LOC105372273, LOC107080555, LOC108663985, LOC110121441, LOC110121458, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC113939967, LOC116276501, LOC116276502, LOC116276503, LOC117038783, LOC117038784, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC125371473, LOC125371474, LOC125371475, LOC125371476, LOC125371477, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC126862848, LOC126862849, LOC126862850, LOC126862851, LOC126862852, LOC126862853, LOC126862854, LOC126862855, LOC126862856, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC648044, LYL1, MAN2B1, MAST1, MBD3L1, MIR1181, MIR1238, MIR199A1, MIR4322, MIR4748, MIR5589, MIR5684, MIR5695, MIR638, MIR6515, MIR6793, MIR6794, MIR6886, MIR7974, MRPL4, MUC16, NACC1, NFIX, ODAD3, OLFM2, OR1M1, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, P2RY11, PDE4A, PIN1, PIN1-DT, PLPPR2, PPAN, PPAN-P2RY11, PRDX2, PRKCSH, QTRT1, RAB3D, RAD23A, RAVER1, RDH8, RGL3, RNASEH2A, RTBDN, S1PR2, S1PR5, SHFL, SLC44A2, SMARCA4, SNORD105, SNORD105B, SNORD135, SNORD41, SPC24, STX10, SWSAP1, SYCE2, THSD8, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, TYK2, UBL5, WDR83, WDR83OS, YIPF2, ZGLP1, ZNF121, ZNF136, ZNF177, ZNF20, ZNF266, ZNF317, ZNF426, ZNF426-DT, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF561-AS1, ZNF562, ZNF563, ZNF564, ZNF625, ZNF625-ZNF20, ZNF627, ZNF653, ZNF69, ZNF699, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF846, ZNF878		See cases	Likely pathogenic (May 6, 2011)	no assertion criteria provided
Select item 1460772.	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 GRCh37: Chr19:9846119-11338677 GRCh38: Chr19:9735443-11228001	ANGPTL6, AP1M2, ATG4D, C19orf38, CARM1, CDC37, CDKN2D, COL5A3, DNM2, DNMT1, DOCK6, EIF3G, FBXL12, FDX2, FDX2-ZGLP1, ICAM1, ICAM3, ICAM4, ICAM5, ILF3, ILF3-DT, KANK2, KEAP1, KRI1, LDLR, LDLR-AS1, LIMASI, LOC100505555, LOC105372273, LOC107080555, LOC110121441, LOC113939967, LOC116276501, LOC116276502, LOC125371474, LOC125371475, LOC125371476, LOC125371477, LOC126862852, LOC126862853, LOC126862854, LOC126862855, LOC126862856, MIR1181, MIR1238, MIR199A1, MIR4322, MIR4748, MIR5589, MIR638, MIR6793, MIR6886, MRPL4, OLFM2, P2RY11, PDE4A, PIN1, PIN1-DT, PPAN, PPAN-P2RY11, QTRT1, RAVER1, RDH8, S1PR2, S1PR5, SHFL, SLC44A2, SMARCA4, SNORD105, SNORD105B, SPC24, TIMM29, TMED1, TYK2, UBL5, YIPF2, ZGLP1, ZNF846		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 591113.	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 GRCh37: Chr19:10425934-14159806 GRCh38: Chr19:10315258-14048994	ACP5, ANGPTL8, AP1M2, ATG4D, BEST2, BRME1, C19orf38, C19orf53, CACNA1A, CALR, CARM1, CC2D1A, CCDC159, CDC37, CDKN2D, CNN1, DAND5, DCAF15, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FARSA-AS1, FBXW9, FDX2, FDX2-ZGLP1, GADD45GIP1, GCDH, GET3, GNG14, HOOK2, ICAM3, IER2, IL27RA, ILF3, ILF3-DT, JUNB, KANK2, KEAP1, KLF1, KRI1, LDLR, LDLR-AS1, LINC02926, LOC105372273, LOC108663985, LOC110121441, LOC110121458, LOC111365163, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC116276503, LOC116276504, LOC116276505, LOC117038783, LOC117038784, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC125371477, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC126862855, LOC126862856, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC648044, LYL1, MAN2B1, MAST1, MIR1181, MIR1238, MIR181C, MIR181D, MIR199A1, MIR23A, MIR23AHG, MIR24-2, MIR27A, MIR4748, MIR5684, MIR5695, MIR638, MIR6515, MIR6793, MIR6794, MIR6886, MIR7974, MRI1, NACC1, NANOS3, NFIX, ODAD3, PDE4A, PLPPR2, PODNL1, PRDX2, PRKCSH, QTRT1, RAB3D, RAD23A, RAVER1, RFX1, RGL3, RLN3, RNASEH2A, RTBDN, S1PR5, SLC44A2, SMARCA4, SNORD135, SNORD41, SPC24, STX10, SWSAP1, SYCE2, THSD8, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, TYK2, WDR83, WDR83OS, YIPF2, YJU2B, ZNF136, ZNF20, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF625-ZNF20, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878, ZSWIM4		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1530694.	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 GRCh37: Chr19:10430150-13888674 GRCh38: Chr19:10319474-13777860	ACP5, ANGPTL8, AP1M2, ATG4D, BEST2, C19orf38, C19orf53, CACNA1A, CALR, CARM1, CCDC159, CDC37, CDKN2D, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FARSA-AS1, FBXW9, GADD45GIP1, GCDH, GET3, GNG14, HOOK2, ICAM3, IER2, ILF3, ILF3-DT, JUNB, KANK2, KEAP1, KLF1, KRI1, LDLR, LDLR-AS1, LINC02926, LOC105372273, LOC108663985, LOC110121441, LOC110121458, LOC111365163, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC116276503, LOC117038783, LOC117038784, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC125371477, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC126862855, LOC126862856, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC648044, LYL1, MAN2B1, MAST1, MIR1181, MIR1238, MIR199A1, MIR4748, MIR5684, MIR5695, MIR638, MIR6515, MIR6793, MIR6794, MIR6886, MIR7974, MRI1, NACC1, NFIX, ODAD3, PDE4A, PLPPR2, PRDX2, PRKCSH, QTRT1, RAB3D, RAD23A, RAVER1, RGL3, RNASEH2A, RTBDN, S1PR5, SLC44A2, SMARCA4, SNORD135, SNORD41, SPC24, STX10, SWSAP1, SYCE2, THSD8, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, TYK2, WDR83, WDR83OS, YIPF2, YJU2B, ZNF136, ZNF20, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF625-ZNF20, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878		See cases	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 602355.	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3 GRCh37: Chr19:11249571-11660766 GRCh38: Chr19:11138895-11549951	ANGPTL8, CCDC159, CNN1, DOCK6, ECSIT, ELAVL3, EPOR, KANK2, LOC105372273, LOC110121441, LOC125371478, MIR7974, ODAD3, PLPPR2, PRKCSH, RAB3D, RGL3, SPC24, SWSAP1, TMEM205, TSPAN16, ZNF653		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 12445076.	Single allele GRCh37: Chr19:11309871 GRCh38: Chr19:11199195	DOCK6		not provided	Benign (Nov 8, 2018)	criteria provided, single submitter
Select item 12235457.	Single allele GRCh37: Chr19:11309953 GRCh38: Chr19:11199277	DOCK6		not provided	Likely benign (Jan 13, 2019)	criteria provided, single submitter
Select item 17073918.	NM_020812.4(DOCK6):c.*67G>A GRCh37: Chr19:11310106 GRCh38: Chr19:11199430	DOCK6		not provided	Benign/Likely benign (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21002469.	NM_020812.4(DOCK6):c.6138C>T (p.Asp2046_Leu2047=) GRCh37: Chr19:11310179 GRCh38: Chr19:11199503	DOCK6		not provided	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 103286210.	NM_020812.4(DOCK6):c.6128G>A (p.Arg2043Gln) GRCh37: Chr19:11310189 GRCh38: Chr19:11199513	DOCK6	R2078Q, R2043Q	Inborn genetic diseases, not provided, Adams-Oliver syndrome 2	Uncertain significance (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209048711.	NM_020812.4(DOCK6):c.6111G>C (p.Leu2037Phe) GRCh37: Chr19:11310206 GRCh38: Chr19:11199530	DOCK6	L2037F, L2072F	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 190419612.	NM_020812.4(DOCK6):c.6111G>T (p.Leu2037Phe) GRCh37: Chr19:11310206 GRCh38: Chr19:11199530	DOCK6	L2072F, L2037F	not provided, Inborn genetic diseases	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219322613.	NM_020812.4(DOCK6):c.6108_6110del (p.Leu2037del) GRCh37: Chr19:11310207-11310209 GRCh38: Chr19:11199531-11199533	DOCK6	L2072del, L2037del	not provided	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 200278314.	NM_020812.4(DOCK6):c.6102-3C>T GRCh37: Chr19:11310218 GRCh38: Chr19:11199542	DOCK6		not provided	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 72252115.	NM_020812.4(DOCK6):c.6102-10C>G GRCh37: Chr19:11310225 GRCh38: Chr19:11199549	DOCK6		not provided	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 119294616.	NM_020812.4(DOCK6):c.6102-173G>A GRCh37: Chr19:11310388 GRCh38: Chr19:11199712	DOCK6		not provided	Likely benign (Jul 10, 2019)	criteria provided, single submitter
Select item 43316017.	NC_000019.10:g.(?_11200038)_(11200291_?)del GRCh38: Chr19:11200038-11200291	LDLR, DOCK6		Hypercholesterolemia, familial, 1	Pathogenic (Dec 23, 2015)	criteria provided, single submitter
Select item 128133718.	NM_020812.4(DOCK6):c.6101+148G>T GRCh37: Chr19:11310836 GRCh38: Chr19:11200160	DOCK6		not provided	Benign (Aug 6, 2019)	criteria provided, single submitter
Select item 126861519.	NM_020812.4(DOCK6):c.6101+148del GRCh37: Chr19:11310836 GRCh38: Chr19:11200160	DOCK6		not provided	Benign (Aug 18, 2019)	criteria provided, single submitter
Select item 126491420.	NM_020812.4(DOCK6):c.6101+64G>A GRCh37: Chr19:11310920 GRCh38: Chr19:11200244	DOCK6		not provided	Benign (Nov 8, 2018)	criteria provided, single submitter
Select item 194574521.	NM_020812.4(DOCK6):c.6101+18C>A GRCh37: Chr19:11310966 GRCh38: Chr19:11200290	DOCK6		not provided	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 131334422.	NM_020812.4(DOCK6):c.6099C>G (p.Leu2033=) GRCh37: Chr19:11310986 GRCh38: Chr19:11200310	DOCK6		not provided	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58514523.	NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe) GRCh37: Chr19:11310988 GRCh38: Chr19:11200312	DOCK6	L2033F, L2068F	not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 72824424.	NM_020812.4(DOCK6):c.6093C>T (p.Pro2031=) GRCh37: Chr19:11310992 GRCh38: Chr19:11200316	DOCK6		not provided	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 97568425.	NM_020812.4(DOCK6):c.6086C>G (p.Thr2029Ser) GRCh37: Chr19:11310999 GRCh38: Chr19:11200323	DOCK6	T2029S, T2064S	Intellectual disability	Likely benign (Jan 1, 2019)	no assertion criteria provided
Select item 194452826.	NM_020812.4(DOCK6):c.6066G>C (p.Leu2022_Pro2023=) GRCh37: Chr19:11311019 GRCh38: Chr19:11200343	DOCK6		not provided	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 152275427.	NM_020812.4(DOCK6):c.6061C>T (p.Arg2021Cys) GRCh37: Chr19:11311024 GRCh38: Chr19:11200348	DOCK6	R2021C, R2056C	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 198175228.	NM_020812.4(DOCK6):c.6056C>G (p.Thr2019Ser) GRCh37: Chr19:11311029 GRCh38: Chr19:11200353	DOCK6	T2019S, T2054S	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 150598429.	NM_020812.4(DOCK6):c.6031C>T (p.Arg2011Trp) GRCh37: Chr19:11311054 GRCh38: Chr19:11200378	DOCK6	R2011W, R2046W	not provided	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 98266930.	NM_020812.4(DOCK6):c.6014G>A (p.Arg2005His) GRCh37: Chr19:11311071 GRCh38: Chr19:11200395	DOCK6	R2005H, R2040H	Adams-Oliver syndrome 2	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 191408231.	NM_020812.4(DOCK6):c.6012G>T (p.Glu2004Asp) GRCh37: Chr19:11311073 GRCh38: Chr19:11200397	DOCK6	E2039D, E2004D	not provided	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 162415832.	NM_020812.4(DOCK6):c.6006G>A (p.Glu2002=) GRCh37: Chr19:11311079 GRCh38: Chr19:11200403	DOCK6		not provided	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 218326533.	NM_020812.4(DOCK6):c.6002G>A (p.Arg2001His) GRCh37: Chr19:11311083 GRCh38: Chr19:11200407	DOCK6	R2001H, R2036H	not provided	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 189565534.	NM_020812.4(DOCK6):c.6001C>G (p.Arg2001Gly) GRCh37: Chr19:11311084 GRCh38: Chr19:11200408	DOCK6	R2001G, R2036G	not provided	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209876035.	NM_020812.4(DOCK6):c.5997C>A (p.Tyr1999Ter) GRCh37: Chr19:11311088 GRCh38: Chr19:11200412	DOCK6	Y1999, Y2034	not provided	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 138949536.	NM_020812.4(DOCK6):c.5983G>A (p.Asp1995Asn) GRCh37: Chr19:11311102 GRCh38: Chr19:11200426	DOCK6	D1995N, D2030N	not provided	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 138011537.	NM_020812.4(DOCK6):c.5982G>A (p.Pro1994=) GRCh37: Chr19:11311103 GRCh38: Chr19:11200427	DOCK6		not provided	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 137507038.	NM_020812.4(DOCK6):c.5977G>C (p.Gly1993Arg) GRCh37: Chr19:11311108 GRCh38: Chr19:11200432	DOCK6	G2028R, G1993R	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 78760239.	NM_020812.4(DOCK6):c.5976T>A (p.Ile1992=) GRCh37: Chr19:11311109 GRCh38: Chr19:11200433	DOCK6		not provided	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 153050540.	NM_020812.4(DOCK6):c.5958G>A (p.Arg1986=) GRCh37: Chr19:11311127 GRCh38: Chr19:11200451	DOCK6		not provided	Likely benign (Jul 26, 2021)	criteria provided, single submitter
Select item 130428141.	NM_020812.4(DOCK6):c.5956C>T (p.Arg1986Trp) GRCh37: Chr19:11311129 GRCh38: Chr19:11200453	DOCK6	R1986W, R2021W	not provided	Uncertain significance (Sep 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 75752242.	NM_020812.4(DOCK6):c.5956C>A (p.Arg1986=) GRCh37: Chr19:11311129 GRCh38: Chr19:11200453	DOCK6		not provided	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 220063243.	NM_020812.4(DOCK6):c.5951C>T (p.Ala1984Val) GRCh37: Chr19:11311134 GRCh38: Chr19:11200458	DOCK6	A1984V, A2019V	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 71353944.	NM_020812.4(DOCK6):c.5949T>C (p.Asp1983=) GRCh37: Chr19:11311136 GRCh38: Chr19:11200460	DOCK6		not provided	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 192770445.	NM_020812.4(DOCK6):c.5940-9G>A GRCh37: Chr19:11311154 GRCh38: Chr19:11200478	DOCK6		not provided	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 118965346.	NM_020812.4(DOCK6):c.5939+59C>G GRCh37: Chr19:11311333 GRCh38: Chr19:11200657	DOCK6		not provided	Likely benign (Mar 6, 2020)	criteria provided, single submitter
Select item 190170947.	NM_020812.4(DOCK6):c.5939+13C>T GRCh37: Chr19:11311379 GRCh38: Chr19:11200703	DOCK6		not provided	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 156174648.	NM_020812.4(DOCK6):c.5939+12del GRCh37: Chr19:11311380 GRCh38: Chr19:11200704	DOCK6		not provided	Benign (Oct 18, 2022)	criteria provided, single submitter
Select item 194842849.	NM_020812.4(DOCK6):c.5939+10A>G GRCh37: Chr19:11311382 GRCh38: Chr19:11200706	DOCK6		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 74232650.	NM_020812.4(DOCK6):c.5939+7G>T GRCh37: Chr19:11311385 GRCh38: Chr19:11200709	DOCK6		not provided	Likely benign (Jul 20, 2018)	criteria provided, single submitter
Select item 44561751.	NM_020812.4(DOCK6):c.5939+6C>T GRCh37: Chr19:11311386 GRCh38: Chr19:11200710	DOCK6		not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 192596452.	NM_020812.4(DOCK6):c.5939+4G>C GRCh37: Chr19:11311388 GRCh38: Chr19:11200712	DOCK6		not provided	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 25304753.	NM_020812.4(DOCK6):c.5939+2T>C GRCh37: Chr19:11311390 GRCh38: Chr19:11200714	DOCK6		not provided, Adams-Oliver syndrome 2, Inborn genetic diseases	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 195956954.	NM_020812.4(DOCK6):c.5932T>C (p.Cys1978Arg) GRCh37: Chr19:11311399 GRCh38: Chr19:11200723	DOCK6	C1978R, C2013R	not provided	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 138125055.	NM_020812.4(DOCK6):c.5930T>G (p.Phe1977Cys) GRCh37: Chr19:11311401 GRCh38: Chr19:11200725	DOCK6	F1977C, F2012C	not provided	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 199791156.	NM_020812.4(DOCK6):c.5912G>T (p.Arg1971Leu) GRCh37: Chr19:11311419 GRCh38: Chr19:11200743	DOCK6	R1971L, R2006L	not provided	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 137692557.	NM_020812.4(DOCK6):c.5912G>A (p.Arg1971Gln) GRCh37: Chr19:11311419 GRCh38: Chr19:11200743	DOCK6	R2006Q, R1971Q	not provided	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 206810458.	NM_020812.4(DOCK6):c.5911C>T (p.Arg1971Trp) GRCh37: Chr19:11311420 GRCh38: Chr19:11200744	DOCK6	R1971W, R2006W	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 193339159.	NM_020812.4(DOCK6):c.5894G>A (p.Arg1965Gln) GRCh37: Chr19:11311437 GRCh38: Chr19:11200761	DOCK6	R2000Q, R1965Q	not provided	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 171358960.	NM_020812.4(DOCK6):c.5892C>G (p.Phe1964Leu) GRCh37: Chr19:11311439 GRCh38: Chr19:11200763	DOCK6	F1964L, F1999L	not provided	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 138695861.	NM_020812.4(DOCK6):c.5885A>G (p.Lys1962Arg) GRCh37: Chr19:11311446 GRCh38: Chr19:11200770	DOCK6	K1962R, K1997R	not provided, Inborn genetic diseases	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75881362.	NM_020812.4(DOCK6):c.5874G>A (p.Pro1958=) GRCh37: Chr19:11311457 GRCh38: Chr19:11200781	DOCK6		not provided	Likely benign (Jun 6, 2022)	criteria provided, single submitter
Select item 193375563.	NM_020812.4(DOCK6):c.5873C>G (p.Pro1958Arg) GRCh37: Chr19:11311458 GRCh38: Chr19:11200782	DOCK6	P1993R, P1958R	not provided	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 227769264.	NM_020812.4(DOCK6):c.5854G>T (p.Val1952Leu) GRCh37: Chr19:11311477 GRCh38: Chr19:11200801	DOCK6	V1952L, V1987L	Inborn genetic diseases	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 73477065.	NM_020812.4(DOCK6):c.5833-6C>T GRCh37: Chr19:11311504 GRCh38: Chr19:11200828	DOCK6		not provided	Likely benign (Feb 14, 2018)	criteria provided, single submitter
Select item 190894266.	NM_020812.4(DOCK6):c.5833-11T>C GRCh37: Chr19:11311509 GRCh38: Chr19:11200833	DOCK6		not provided	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 199127467.	NM_020812.4(DOCK6):c.5833-16C>G GRCh37: Chr19:11311514 GRCh38: Chr19:11200838	DOCK6		not provided	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 204561368.	NM_020812.4(DOCK6):c.5833-17T>C GRCh37: Chr19:11311515 GRCh38: Chr19:11200839	DOCK6		not provided	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 130392669.	NM_020812.4(DOCK6):c.5832+5G>A GRCh37: Chr19:11311580 GRCh38: Chr19:11200904	DOCK6		not provided	Uncertain significance (Mar 15, 2019)	criteria provided, single submitter
Select item 79866070.	NM_020812.4(DOCK6):c.5832+4C>T GRCh37: Chr19:11311581 GRCh38: Chr19:11200905	DOCK6		not provided	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 219833471.	NM_020812.4(DOCK6):c.5812G>A (p.Val1938Ile) GRCh37: Chr19:11311605 GRCh38: Chr19:11200929	DOCK6	V1973I, V1938I	not provided	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 206563172.	NM_020812.4(DOCK6):c.5790A>G (p.Leu1930_Gln1931=) GRCh37: Chr19:11311627 GRCh38: Chr19:11200951	DOCK6		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 132276073.	NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs) GRCh37: Chr19:11311627-11311634 GRCh38: Chr19:11200951-11200958	DOCK6	K1928fs, K1963fs	not provided, Adams-Oliver syndrome 2	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133592474.	NM_020812.4(DOCK6):c.5764C>T (p.Gln1922Ter) GRCh37: Chr19:11311653 GRCh38: Chr19:11200977	DOCK6	Q1922, Q1957	not provided	Likely pathogenic (Apr 28, 2021)	criteria provided, single submitter
Select item 192116575.	NM_020812.4(DOCK6):c.5719G>A (p.Glu1907Lys) GRCh37: Chr19:11311698 GRCh38: Chr19:11201022	DOCK6	E1907K, E1942K	not provided	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 205862876.	NM_020812.4(DOCK6):c.5718C>T (p.Ile1906_Glu1907=) GRCh37: Chr19:11311699 GRCh38: Chr19:11201023	DOCK6		not provided	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 72412377.	NM_020812.4(DOCK6):c.5700G>A (p.Thr1900=) GRCh37: Chr19:11311717 GRCh38: Chr19:11201041	DOCK6		not provided	Benign/Likely benign (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205435578.	NM_020812.4(DOCK6):c.5689-2_5699del GRCh37: Chr19:11311718-11311730 GRCh38: Chr19:11201042-11201054	DOCK6		not provided	Likely pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 192687379.	NM_020812.4(DOCK6):c.5699C>T (p.Thr1900Met) GRCh37: Chr19:11311718 GRCh38: Chr19:11201042	DOCK6	T1935M, T1900M	Inborn genetic diseases, not provided	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193809780.	NM_020812.4(DOCK6):c.5691G>A (p.Thr1897_Val1898=) GRCh37: Chr19:11311726 GRCh38: Chr19:11201050	DOCK6		not provided	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 97521781.	NM_020812.4(DOCK6):c.5690C>T (p.Thr1897Met) GRCh37: Chr19:11311727 GRCh38: Chr19:11201051	DOCK6	T1897M, T1932M	not provided	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 148863782.	NM_020812.4(DOCK6):c.5689-3C>T GRCh37: Chr19:11311731 GRCh38: Chr19:11201055	DOCK6		not provided	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 120769483.	NM_020812.4(DOCK6):c.5689-46C>T GRCh37: Chr19:11311774 GRCh38: Chr19:11201098	DOCK6		not provided	Likely benign (Nov 20, 2018)	criteria provided, single submitter
Select item 119905084.	NM_020812.4(DOCK6):c.5689-159dup GRCh37: Chr19:11311880-11311881 GRCh38: Chr19:11201204-11201205	DOCK6		not provided	Likely benign (Mar 6, 2020)	criteria provided, single submitter
Select item 123281885.	NM_020812.4(DOCK6):c.5689-157C>G GRCh37: Chr19:11311885 GRCh38: Chr19:11201209	DOCK6		not provided	Benign (Mar 10, 2019)	criteria provided, single submitter
Select item 119901486.	NM_020812.4(DOCK6):c.5689-322C>T GRCh37: Chr19:11312050 GRCh38: Chr19:11201374	DOCK6		not provided	Likely benign (Mar 6, 2020)	criteria provided, single submitter
Select item 126742387.	NM_020812.4(DOCK6):c.5688+327C>T GRCh37: Chr19:11312238 GRCh38: Chr19:11201562	DOCK6		not provided	Benign (Nov 8, 2018)	criteria provided, single submitter
Select item 121557888.	NM_020812.4(DOCK6):c.5688+30T>G GRCh37: Chr19:11312535 GRCh38: Chr19:11201859	DOCK6		not provided	Likely benign (Oct 16, 2018)	criteria provided, single submitter
Select item 118943089.	NM_020812.4(DOCK6):c.5688+30T>C GRCh37: Chr19:11312535 GRCh38: Chr19:11201859	DOCK6		not provided	Likely benign (Mar 10, 2019)	criteria provided, single submitter
Select item 73243990.	NM_020812.4(DOCK6):c.5688+9G>C GRCh37: Chr19:11312556 GRCh38: Chr19:11201880	DOCK6		not provided	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 141058391.	NM_020812.4(DOCK6):c.5684A>G (p.Glu1895Gly) GRCh37: Chr19:11312569 GRCh38: Chr19:11201893	DOCK6	E1895G, E1930G	not provided	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 217815792.	NM_020812.4(DOCK6):c.5681G>A (p.Arg1894Gln) GRCh37: Chr19:11312572 GRCh38: Chr19:11201896	DOCK6	R1894Q, R1929Q	not provided	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 216321393.	NM_020812.4(DOCK6):c.5680C>T (p.Arg1894Trp) GRCh37: Chr19:11312573 GRCh38: Chr19:11201897	DOCK6	R1894W, R1929W	not provided	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 214401294.	NM_020812.4(DOCK6):c.5669G>A (p.Arg1890His) GRCh37: Chr19:11312584 GRCh38: Chr19:11201908	DOCK6	R1890H, R1925H	Inborn genetic diseases, not provided	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139984195.	NM_020812.4(DOCK6):c.5668C>T (p.Arg1890Cys) GRCh37: Chr19:11312585 GRCh38: Chr19:11201909	DOCK6	R1890C, R1925C	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 171698096.	NM_020812.4(DOCK6):c.5648C>T (p.Pro1883Leu) GRCh37: Chr19:11312605 GRCh38: Chr19:11201929	DOCK6	P1883L, P1918L	not provided	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 71094397.	NM_020812.4(DOCK6):c.5640C>T (p.His1880=) GRCh37: Chr19:11312613 GRCh38: Chr19:11201937	DOCK6		not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 137357198.	NM_020812.4(DOCK6):c.5635G>A (p.Asp1879Asn) GRCh37: Chr19:11312618 GRCh38: Chr19:11201942	DOCK6	D1879N, D1914N	not provided	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 162803499.	NM_020812.4(DOCK6):c.5622G>A (p.Thr1874=) GRCh37: Chr19:11312631 GRCh38: Chr19:11201955	DOCK6		not provided	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 1708249100.	NM_020812.4(DOCK6):c.5616dup (p.Lys1873Ter) GRCh37: Chr19:11312636-11312637 GRCh38: Chr19:11201960-11201961	DOCK6	K1873, K1908	Adams-Oliver syndrome 2	Pathogenic (Oct 4, 2022)	criteria provided, single submitter

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