17[chr] AND 43000000:44000000[chrpos37] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 586961.	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 GRCh37: Chr17:37356126-43706945 GRCh38: Chr17:39199873-45629579	AARSD1, ACBD4, ACLY, ADAM11, AOC2, AOC3, ARHGAP27, ARL4D, ASB16, ASB16-AS1, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, BECN1, BRCA1, C17orf113, C1QL1, CASC3, CAVIN1, CCDC103, CCDC200, CCDC43, CCR10, CCR7, CD300LG, CDC6, CDK12, CFAP97D1, CNP, CNTD1, CNTNAP1, COA3, COASY, CSF3, DBF4B, DCAKD, DHX58, DHX8, DNAJC7, DUSP3, EFTUD2, EIF1, ERBB2, ETV4, EZH1, FAM171A2, FAM187A, FAM215A, FBXL20, FKBP10, FMNL1, FMNL1-DT, FZD2, G6PC1, G6PC3, GAST, GFAP, GHDC, GJC1, GJD3, GPATCH8, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEXIM1, HEXIM2, HIGD1B, HROB, HSD17B1, HSD17B1-AS1, HSPB9, IFI35, IGFBP4, IKZF3, ITGA2B, JUP, KAT2A, KCNH4, KIF18B, KLHL10, KLHL11, KRT10, KRT10-AS1, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP16-1, KRTAP17-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP29-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-16, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, LINC00671, LINC00910, LINC00974, LINC01180, LINC01976, LINC02210, LINC02210-CRHR1, LINC02594, LOC100505782, LOC101929767, LOC102724183, LOC105371789, LOC105371795, LOC110120913, LOC110121446, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589215, LOC111589216, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC113939962, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121852931, LOC121852932, LOC121852933, LOC125177467, LOC125177469, LOC125177470, LOC125177471, LOC125177472, LOC125177473, LOC125177474, LOC125177475, LOC125177476, LOC125177477, LOC125177478, LOC125177479, LOC125177480, LOC125177481, LOC125177482, LOC125177484, LOC125177485, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC125177490, LOC125177491, LOC126862553, LOC126862554, LOC126862555, LOC126862556, LOC126862557, LOC126862558, LOC126862559, LOC126862560, LOC126862561, LOC126862562, LOC126862563, LOC126862564, LOC126862565, LOC126862566, LOC126862567, LOC126862568, LOC126862569, LOC126862570, LOC126862571, LOC126862572, LOC126862573, LOC126862574, LOC126862575, LOC128669077, LOC128669078, LRRC3C, LSM12, MAP3K14, MAP3K14-AS1, MED1, MED24, MEIOC, MEOX1, MIEN1, MIR2117, MIR2117HG, MIR4315-1, MIR4728, MIR5010, MIR548AT, MIR548BC, MIR6510, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MLX, MPP2, MPP3, MSL1, NAGLU, NAGS, NBR1, NBR2, NEUROD2, NKIRAS2, NMT1, NR1D1, NT5C3B, ODAD4, ORMDL3, P3H4, PGAP3, PLCD3, PLEKHH3, PLEKHM1, PNMT, PPP1R1B, PPY, PSMC3IP, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PYY, RAB5C, RAB5C-AS1, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RARA-AS1, RETREG3, RND2, RNU2-1, RPL19, RPL27, RUNDC1, RUNDC3A, RUNDC3A-AS1, SLC25A39, SLC4A1, SMARCE1, SNORD124, SOST, SPATA32, STAC2, STARD3, STAT3, STAT5A, STAT5B, TCAP, THRA, TMEM101, TMEM106A, TMUB2, TNS4, TOP2A, TUBG1, TUBG2, UBTF, VAT1, VPS25, WIPF2, WNK4, ZNF385C, ZPBP2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 601712.	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3 GRCh37: Chr17:42983603-43297773 GRCh38: Chr17:44906235-45220406	ACBD4, C1QL1, DCAKD, FMNL1-DT, GFAP, HEXIM1, HEXIM2, KIF18B, LOC105371795, LOC121587596, LOC121852933, LOC125177490, MIR6783, MIR6784, NMT1, PLCD3		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 595873.	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1 GRCh37: Chr17:43005866-43377096 GRCh38: Chr17:44928498-45299730	ACBD4, C1QL1, DCAKD, FMNL1, FMNL1-DT, HEXIM1, HEXIM2, KIF18B, LOC105371795, LOC121587596, LOC121587597, LOC121852933, LOC125177490, LOC125177491, LOC126862575, MAP3K14, MAP3K14-AS1, MIR6783, MIR6784, NMT1, PLCD3, SPATA32		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 23856174.	NM_006688.5(C1QL1):c.380T>G (p.Val127Gly) GRCh37: Chr17:43045037 GRCh38: Chr17:44967669	C1QL1	V127G	Inborn genetic diseases	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 23841765.	NM_006688.5(C1QL1):c.256G>T (p.Asp86Tyr) GRCh37: Chr17:43045161 GRCh38: Chr17:44967793	C1QL1	D86Y	Inborn genetic diseases	Uncertain significance (Jul 6, 2021)	criteria provided, single submitter
Select item 22436406.	NM_001288655.2(DCAKD):c.641C>T (p.Ala214Val) GRCh37: Chr17:43101856 GRCh38: Chr17:45024488	DCAKD	A214V	Inborn genetic diseases	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 23834247.	NM_001288655.2(DCAKD):c.640G>A (p.Ala214Thr) GRCh37: Chr17:43101857 GRCh38: Chr17:45024489	DCAKD	A214T	Inborn genetic diseases	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 23277748.	NM_001288655.2(DCAKD):c.611C>T (p.Pro204Leu) GRCh37: Chr17:43101886 GRCh38: Chr17:45024518	DCAKD	P204L	Inborn genetic diseases	Uncertain significance (Nov 18, 2022)	criteria provided, single submitter
Select item 23707579.	NM_001288655.2(DCAKD):c.518G>A (p.Arg173His) GRCh37: Chr17:43101979 GRCh38: Chr17:45024611	DCAKD	R173H	Inborn genetic diseases	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 235344310.	NM_001288655.2(DCAKD):c.455G>A (p.Arg152His) GRCh37: Chr17:43102042 GRCh38: Chr17:45024674	DCAKD	R152H	Inborn genetic diseases	Uncertain significance (Jul 16, 2021)	criteria provided, single submitter
Select item 223531911.	NM_001288655.2(DCAKD):c.427C>T (p.Arg143Trp) GRCh37: Chr17:43102070 GRCh38: Chr17:45024702	DCAKD	R143W	Inborn genetic diseases	Uncertain significance (Dec 21, 2022)	criteria provided, single submitter
Select item 224664712.	NM_001288655.2(DCAKD):c.406G>A (p.Asp136Asn) GRCh37: Chr17:43102091 GRCh38: Chr17:45024723	DCAKD	D136N	Inborn genetic diseases	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 228270613.	NM_001288655.2(DCAKD):c.319T>C (p.Tyr107His) GRCh37: Chr17:43107545 GRCh38: Chr17:45030177	DCAKD	Y107H	Inborn genetic diseases	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 239751114.	NM_001288655.2(DCAKD):c.311T>C (p.Leu104Pro) GRCh37: Chr17:43111560 GRCh38: Chr17:45034192	DCAKD	L104P	Inborn genetic diseases	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 237081315.	NM_001288655.2(DCAKD):c.296C>T (p.Thr99Met) GRCh37: Chr17:43111575 GRCh38: Chr17:45034207	DCAKD	T99M	Inborn genetic diseases	Uncertain significance (Dec 2, 2022)	criteria provided, single submitter
Select item 238790016.	NM_001288655.2(DCAKD):c.238C>T (p.Arg80Trp) GRCh37: Chr17:43111633 GRCh38: Chr17:45034265	DCAKD	R80W	Inborn genetic diseases	Uncertain significance (Dec 21, 2022)	criteria provided, single submitter
Select item 229123517.	NM_001288655.2(DCAKD):c.187G>A (p.Asp63Asn) GRCh37: Chr17:43111684 GRCh38: Chr17:45034316	DCAKD	D63N	Inborn genetic diseases	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 227610218.	NM_021079.5(NMT1):c.218C>T (p.Ser73Leu) GRCh37: Chr17:43159098 GRCh38: Chr17:45081730	NMT1	S73L	Inborn genetic diseases	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 239378219.	NM_021079.5(NMT1):c.605G>A (p.Arg202Gln) GRCh37: Chr17:43174504 GRCh38: Chr17:45097136	NMT1	R202Q	Inborn genetic diseases	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 227417620.	NM_021079.5(NMT1):c.871G>A (p.Val291Ile) GRCh37: Chr17:43175907 GRCh38: Chr17:45098539	NMT1	V291I	Inborn genetic diseases	Uncertain significance (Dec 14, 2022)	criteria provided, single submitter
Select item 222033621.	NM_021079.5(NMT1):c.1088C>T (p.Thr363Met) GRCh37: Chr17:43180413 GRCh38: Chr17:45103045	NMT1	T363M	Inborn genetic diseases	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 237378922.	NM_021079.5(NMT1):c.1093G>A (p.Val365Ile) GRCh37: Chr17:43180418 GRCh38: Chr17:45103050	NMT1	V365I	Inborn genetic diseases	Uncertain significance (Jun 11, 2021)	criteria provided, single submitter
Select item 238462423.	NM_021079.5(NMT1):c.1405A>G (p.Ile469Val) GRCh37: Chr17:43182299 GRCh38: Chr17:45104931	NMT1	I469V	Inborn genetic diseases	Uncertain significance (Dec 28, 2022)	criteria provided, single submitter
Select item 238609824.	NM_133373.5(PLCD3):c.1616G>A (p.Arg539His) GRCh37: Chr17:43192556 GRCh38: Chr17:45115189	PLCD3	R539H	Inborn genetic diseases	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 224108925.	NM_133373.5(PLCD3):c.1492C>T (p.Arg498Trp) GRCh37: Chr17:43192779 GRCh38: Chr17:45115412	PLCD3	R498W	Inborn genetic diseases	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 220741126.	NM_133373.5(PLCD3):c.1463G>A (p.Arg488Gln) GRCh37: Chr17:43192808 GRCh38: Chr17:45115441	PLCD3	R488Q	Inborn genetic diseases	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 228044127.	NM_133373.5(PLCD3):c.1330C>T (p.Arg444Cys) GRCh37: Chr17:43194082 GRCh38: Chr17:45116715	PLCD3	R444C	Inborn genetic diseases	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 233504828.	NM_133373.5(PLCD3):c.1215T>G (p.Ile405Met) GRCh37: Chr17:43195406 GRCh38: Chr17:45118039	PLCD3	I405M	Inborn genetic diseases	Uncertain significance (Dec 14, 2022)	criteria provided, single submitter
Select item 221216629.	NM_133373.5(PLCD3):c.1012G>A (p.Asp338Asn) GRCh37: Chr17:43195761 GRCh38: Chr17:45118394	PLCD3	D338N	Inborn genetic diseases	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 231676630.	NM_133373.5(PLCD3):c.352C>A (p.Arg118Ser) GRCh37: Chr17:43198471 GRCh38: Chr17:45121104	PLCD3	R118S	Inborn genetic diseases	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 220641631.	NM_133373.5(PLCD3):c.280G>C (p.Val94Leu) GRCh37: Chr17:43198623 GRCh38: Chr17:45121256	PLCD3	V94L	Inborn genetic diseases	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 230782532.	NM_133373.5(PLCD3):c.247C>G (p.Arg83Gly) GRCh37: Chr17:43198656 GRCh38: Chr17:45121289	PLCD3	R83G	Inborn genetic diseases	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 225041433.	NM_133373.5(PLCD3):c.162G>A (p.Met54Ile) GRCh37: Chr17:43209616 GRCh38: Chr17:45132249	PLCD3, ACBD4	M54I	Inborn genetic diseases	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 233110334.	NM_133373.5(PLCD3):c.113C>A (p.Pro38His) GRCh37: Chr17:43209665 GRCh38: Chr17:45132298	PLCD3, ACBD4	P38H	Inborn genetic diseases	Uncertain significance (Dec 1, 2022)	criteria provided, single submitter
Select item 234138335.	NM_133373.5(PLCD3):c.104C>T (p.Pro35Leu) GRCh37: Chr17:43209674 GRCh38: Chr17:45132307	ACBD4, PLCD3	P35L	Inborn genetic diseases	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 230241936.	NM_001135705.3(ACBD4):c.104C>T (p.Ser35Phe) GRCh37: Chr17:43213882 GRCh38: Chr17:45136515	ACBD4	S35F	Inborn genetic diseases	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 226763837.	NM_001135705.3(ACBD4):c.388C>G (p.Pro130Ala) GRCh37: Chr17:43214479 GRCh38: Chr17:45137112	ACBD4	P52A, P130A	Inborn genetic diseases	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 223987338.	NM_001135705.3(ACBD4):c.504G>A (p.Glu168_Ser169=) GRCh37: Chr17:43215128 GRCh38: Chr17:45137761	ACBD4	S103N, S181N	Inborn genetic diseases	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 220444339.	NM_001135705.3(ACBD4):c.629C>T (p.Pro210Leu) GRCh37: Chr17:43215335 GRCh38: Chr17:45137968	ACBD4	P145S, P207S, P210L, P223S	Inborn genetic diseases	Uncertain significance (Dec 21, 2022)	criteria provided, single submitter
Select item 223707540.	NM_001135705.3(ACBD4):c.638C>G (p.Pro213Arg) GRCh37: Chr17:43215344 GRCh38: Chr17:45137977	ACBD4	P213R, P148A, P210A, P226A	Inborn genetic diseases	Uncertain significance (Nov 18, 2022)	criteria provided, single submitter
Select item 235525341.	NM_001135705.3(ACBD4):c.671C>T (p.Pro224Leu) GRCh37: Chr17:43216409 GRCh38: Chr17:45139042	ACBD4	R221W, R237W, P224L, R159W	Inborn genetic diseases	Likely benign (Oct 6, 2021)	criteria provided, single submitter
Select item 234629942.	NM_001135705.3(ACBD4):c.840G>A (p.Gly280_Pro281=) GRCh37: Chr17:43220860 GRCh38: Chr17:45143493	ACBD4	A234T, G293D	Inborn genetic diseases	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 230281443.	NM_001135705.3(ACBD4):c.861C>T (p.Leu287_Leu288=) GRCh37: Chr17:43220881 GRCh38: Chr17:45143514	ACBD4	P241S, S300F	Inborn genetic diseases	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 71037444.	NM_006460.3(HEXIM1):c.108G>C (p.Ala36=) GRCh37: Chr17:43226665 GRCh38: Chr17:45149298	HEXIM1		not provided	Benign (Jul 17, 2018)	criteria provided, single submitter
Select item 234383145.	NM_006460.3(HEXIM1):c.173G>T (p.Arg58Leu) GRCh37: Chr17:43226730 GRCh38: Chr17:45149363	HEXIM1	R58L	Inborn genetic diseases	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 220665946.	NM_006460.3(HEXIM1):c.173G>A (p.Arg58His) GRCh37: Chr17:43226730 GRCh38: Chr17:45149363	HEXIM1	R58H	Inborn genetic diseases	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 234239647.	NM_006460.3(HEXIM1):c.239C>A (p.Pro80Gln) GRCh37: Chr17:43226796 GRCh38: Chr17:45149429	HEXIM1	P80Q	Inborn genetic diseases	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 232717248.	NM_006460.3(HEXIM1):c.1040G>A (p.Arg347Gln) GRCh37: Chr17:43227597 GRCh38: Chr17:45150230	HEXIM1	R347Q	Inborn genetic diseases	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 222831549.	NM_001303441.2(HEXIM2):c.64A>G (p.Lys22Glu) GRCh37: Chr17:43240224 GRCh38: Chr17:45162857	HEXIM2	K44E, K22E	Inborn genetic diseases	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 99422650.	NM_001303441.2(HEXIM2):c.80C>G (p.Pro27Arg) GRCh37: Chr17:43246395 GRCh38: Chr17:45169028	LOC105371795, HEXIM2	P27R, P49R	not provided	Uncertain significance (Feb 12, 2020)	criteria provided, single submitter
Select item 225557451.	NM_001303441.2(HEXIM2):c.169G>C (p.Asp57His) GRCh37: Chr17:43246484 GRCh38: Chr17:45169117	HEXIM2, LOC105371795	D79H, D57H	Inborn genetic diseases	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 229330452.	NM_001303441.2(HEXIM2):c.281G>T (p.Arg94Leu) GRCh37: Chr17:43246596 GRCh38: Chr17:45169229	HEXIM2, LOC105371795	R116L, R94L	Inborn genetic diseases	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 236329453.	NM_001303441.2(HEXIM2):c.498C>G (p.His166Gln) GRCh37: Chr17:43246813 GRCh38: Chr17:45169446	LOC105371795, HEXIM2	H166Q, H188Q	Inborn genetic diseases	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 232204554.	NM_001303441.2(HEXIM2):c.757G>T (p.Ala253Ser) GRCh37: Chr17:43247072 GRCh38: Chr17:45169705	LOC105371795, HEXIM2	A275S, A253S	Inborn genetic diseases	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 226261555.	NM_005892.4(FMNL1):c.52C>T (p.Pro18Ser) GRCh37: Chr17:43299543 GRCh38: Chr17:45222176	FMNL1	P18S	Inborn genetic diseases	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 235980556.	NM_005892.4(FMNL1):c.182A>G (p.Asn61Ser) GRCh37: Chr17:43308023 GRCh38: Chr17:45230656	FMNL1	N61S	Inborn genetic diseases	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 234139257.	NM_005892.4(FMNL1):c.321C>G (p.Asn107Lys) GRCh37: Chr17:43309841 GRCh38: Chr17:45232474	FMNL1	N107K	Inborn genetic diseases	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 224574158.	NM_005892.4(FMNL1):c.326G>T (p.Gly109Val) GRCh37: Chr17:43309846 GRCh38: Chr17:45232479	FMNL1	G109V	Inborn genetic diseases	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 231797059.	NM_005892.4(FMNL1):c.533A>T (p.Asn178Ile) GRCh37: Chr17:43311486 GRCh38: Chr17:45234119	FMNL1	N178I	Inborn genetic diseases	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 77532560.	NM_005892.4(FMNL1):c.895-3C>T GRCh37: Chr17:43315928 GRCh38: Chr17:45238561	FMNL1		not provided	Benign (Dec 31, 2019)	criteria provided, single submitter
Select item 236122261.	NM_005892.4(FMNL1):c.940C>T (p.Arg314Trp) GRCh37: Chr17:43315976 GRCh38: Chr17:45238609	FMNL1	R314W	Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 230849662.	NM_005892.4(FMNL1):c.965T>A (p.Phe322Tyr) GRCh37: Chr17:43316001 GRCh38: Chr17:45238634	FMNL1	F322Y	Inborn genetic diseases	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 223665763.	NM_005892.4(FMNL1):c.1487G>T (p.Gly496Val) GRCh37: Chr17:43318903 GRCh38: Chr17:45241536	FMNL1	G496V	Inborn genetic diseases	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 234492664.	NM_005892.4(FMNL1):c.1534A>G (p.Ser512Gly) GRCh37: Chr17:43318950 GRCh38: Chr17:45241583	FMNL1	S512G	Inborn genetic diseases	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 221688765.	NM_005892.4(FMNL1):c.1567A>C (p.Thr523Pro) GRCh37: Chr17:43318983 GRCh38: Chr17:45241616	FMNL1	T523P	Inborn genetic diseases	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 223715166.	NM_005892.4(FMNL1):c.1568C>T (p.Thr523Ile) GRCh37: Chr17:43318984 GRCh38: Chr17:45241617	FMNL1	T523I	Inborn genetic diseases	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 221599267.	NM_005892.4(FMNL1):c.1655C>T (p.Pro552Leu) GRCh37: Chr17:43319283 GRCh38: Chr17:45241916	FMNL1	P552L	Inborn genetic diseases	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 226973968.	NM_005892.4(FMNL1):c.1858G>C (p.Gly620Arg) GRCh37: Chr17:43319486 GRCh38: Chr17:45242119	FMNL1	G620R	Inborn genetic diseases	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 240067569.	NM_005892.4(FMNL1):c.2074C>T (p.Leu692Phe) GRCh37: Chr17:43320548 GRCh38: Chr17:45243181	FMNL1	L692F	Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 226573770.	NM_005892.4(FMNL1):c.2107G>C (p.Ala703Pro) GRCh37: Chr17:43320581 GRCh38: Chr17:45243214	FMNL1	A703P	Inborn genetic diseases	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 221235871.	NM_005892.4(FMNL1):c.2228C>T (p.Ala743Val) GRCh37: Chr17:43321172 GRCh38: Chr17:45243805	FMNL1	A743V	Inborn genetic diseases	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 228949372.	NM_005892.4(FMNL1):c.2308C>T (p.Arg770Trp) GRCh37: Chr17:43321252 GRCh38: Chr17:45243885	FMNL1	R770W	Inborn genetic diseases	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 236134573.	NM_005892.4(FMNL1):c.2317C>T (p.Arg773Trp) GRCh37: Chr17:43321261 GRCh38: Chr17:45243894	FMNL1	R773W	Inborn genetic diseases	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 227322774.	NM_005892.4(FMNL1):c.2389C>T (p.Arg797Cys) GRCh37: Chr17:43321333 GRCh38: Chr17:45243966	FMNL1	R797C	Inborn genetic diseases	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 230466375.	NM_005892.4(FMNL1):c.2449C>G (p.Gln817Glu) GRCh37: Chr17:43321543 GRCh38: Chr17:45244176	FMNL1	Q817E	Inborn genetic diseases	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 237813676.	NM_005892.4(FMNL1):c.2626A>G (p.Lys876Glu) GRCh37: Chr17:43322373 GRCh38: Chr17:45245006	FMNL1	K876E	Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 230882977.	NM_005892.4(FMNL1):c.2670G>C (p.Lys890Asn) GRCh37: Chr17:43322417 GRCh38: Chr17:45245050	FMNL1	K890N	Inborn genetic diseases	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 221152278.	NM_005892.4(FMNL1):c.3062C>T (p.Pro1021Leu) GRCh37: Chr17:43323312 GRCh38: Chr17:45245945	FMNL1	P1021L	Inborn genetic diseases	Likely benign (Nov 9, 2021)	criteria provided, single submitter
Select item 233570079.	NM_005892.4(FMNL1):c.3076C>T (p.Pro1026Ser) GRCh37: Chr17:43323326 GRCh38: Chr17:45245959	FMNL1	P1026S	Inborn genetic diseases	Uncertain significance (Dec 15, 2022)	criteria provided, single submitter
Select item 231958080.	NM_005892.4(FMNL1):c.3098C>T (p.Pro1033Leu) GRCh37: Chr17:43323584 GRCh38: Chr17:45246217	FMNL1	P1033L	Inborn genetic diseases	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 230085581.	NM_152343.3(SPATA32):c.969C>A (p.Asp323Glu) GRCh37: Chr17:43332580 GRCh38: Chr17:45255213	MAP3K14-AS1, SPATA32	D323E	Inborn genetic diseases	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 223076582.	NM_152343.3(SPATA32):c.844A>G (p.Thr282Ala) GRCh37: Chr17:43332705 GRCh38: Chr17:45255338	SPATA32, MAP3K14-AS1	T282A	Inborn genetic diseases	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 236620483.	NM_152343.3(SPATA32):c.808C>G (p.Gln270Glu) GRCh37: Chr17:43332741 GRCh38: Chr17:45255374	MAP3K14-AS1, SPATA32	Q270E	Inborn genetic diseases	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 224329084.	NM_152343.3(SPATA32):c.640T>A (p.Ser214Thr) GRCh37: Chr17:43332909 GRCh38: Chr17:45255542	SPATA32, MAP3K14-AS1	S214T	Inborn genetic diseases	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 239941685.	NM_152343.3(SPATA32):c.610G>A (p.Glu204Lys) GRCh37: Chr17:43332939 GRCh38: Chr17:45255572	SPATA32, MAP3K14-AS1	E204K	Inborn genetic diseases	Likely benign (Dec 15, 2022)	criteria provided, single submitter
Select item 235235586.	NM_152343.3(SPATA32):c.401G>A (p.Arg134Gln) GRCh37: Chr17:43333148 GRCh38: Chr17:45255781	SPATA32, MAP3K14-AS1	R134Q	Inborn genetic diseases	Uncertain significance (Dec 6, 2021)	criteria provided, single submitter
Select item 224795787.	NM_152343.3(SPATA32):c.294C>G (p.Asp98Glu) GRCh37: Chr17:43333255 GRCh38: Chr17:45255888	SPATA32, MAP3K14-AS1	D98E	Inborn genetic diseases	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 239430388.	NM_152343.3(SPATA32):c.199G>A (p.Gly67Arg) GRCh37: Chr17:43333350 GRCh38: Chr17:45255983	SPATA32, MAP3K14-AS1	G67R	Inborn genetic diseases	Uncertain significance (Nov 18, 2022)	criteria provided, single submitter
Select item 224263389.	NM_152343.3(SPATA32):c.157G>C (p.Asp53His) GRCh37: Chr17:43333392 GRCh38: Chr17:45256025	SPATA32, MAP3K14-AS1	D53H	Inborn genetic diseases	Uncertain significance (Aug 10, 2021)	criteria provided, single submitter
Select item 235645090.	NM_152343.3(SPATA32):c.50T>C (p.Val17Ala) GRCh37: Chr17:43334538 GRCh38: Chr17:45257171	SPATA32, MAP3K14-AS1	V17A	Inborn genetic diseases	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 153582991.	NM_003954.5(MAP3K14):c.2826G>A (p.Gln942=) GRCh37: Chr17:43342021 GRCh38: Chr17:45264654	MAP3K14, MAP3K14-AS1		NIK deficiency	Likely benign (Mar 2, 2021)	criteria provided, single submitter
Select item 213336792.	NM_003954.5(MAP3K14):c.2823C>T (p.Gly941_Gln942=) GRCh37: Chr17:43342024 GRCh38: Chr17:45264657	MAP3K14, MAP3K14-AS1		NIK deficiency	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 47806093.	NM_003954.5(MAP3K14):c.2820T>C (p.His940=) GRCh37: Chr17:43342027 GRCh38: Chr17:45264660	MAP3K14, MAP3K14-AS1		NIK deficiency	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 150945294.	NM_003954.5(MAP3K14):c.2797G>A (p.Ala933Thr) GRCh37: Chr17:43342050 GRCh38: Chr17:45264683	MAP3K14, MAP3K14-AS1	A933T	NIK deficiency	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 153273495.	NM_003954.5(MAP3K14):c.2796C>T (p.Phe932=) GRCh37: Chr17:43342051 GRCh38: Chr17:45264684	MAP3K14, MAP3K14-AS1		NIK deficiency	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 102372896.	NM_003954.5(MAP3K14):c.2783C>A (p.Pro928His) GRCh37: Chr17:43342064 GRCh38: Chr17:45264697	MAP3K14, MAP3K14-AS1	P928H	NIK deficiency	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 57520797.	NM_003954.5(MAP3K14):c.2779G>A (p.Ala927Thr) GRCh37: Chr17:43342068 GRCh38: Chr17:45264701	MAP3K14, MAP3K14-AS1	A927T	NIK deficiency	Uncertain significance (Jul 5, 2018)	criteria provided, single submitter
Select item 163597198.	NM_003954.5(MAP3K14):c.2769G>A (p.Gln923=) GRCh37: Chr17:43342078 GRCh38: Chr17:45264711	MAP3K14, MAP3K14-AS1		NIK deficiency	Likely benign (Jul 8, 2021)	criteria provided, single submitter
Select item 113220599.	NM_003954.5(MAP3K14):c.2754G>A (p.Ser918=) GRCh37: Chr17:43342093 GRCh38: Chr17:45264726	MAP3K14, MAP3K14-AS1		NIK deficiency	Likely benign (Nov 16, 2020)	criteria provided, single submitter
Select item 1081852100.	NM_003954.5(MAP3K14):c.2742G>A (p.Glu914=) GRCh37: Chr17:43342105 GRCh38: Chr17:45264738	MAP3K14, MAP3K14-AS1		NIK deficiency	Likely benign (Aug 4, 2020)	criteria provided, single submitter

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