ClinVar for MedGen (Select 99347) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 119

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25736501.	NM_015294.6(TRIM37):c.370-1G>A GRCh37: Chr17:57158581 GRCh38: Chr17:59081220	TRIM37		Mulibrey nanism syndrome	Pathogenic	criteria provided, single submitter
Select item 24372772.	NM_015294.6(TRIM37):c.2002G>A (p.Val668Met) GRCh37: Chr17:57106031 GRCh38: Chr17:59028670	TRIM37	V423M, V514M, V546M, V634M, V651M, V668M	Mulibrey nanism syndrome	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 24342543.	NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter) GRCh37: Chr17:57134387 GRCh38: Chr17:59057026	TRIM37	Q105, Q196, Q228, Q316, Q333, Q350	Mulibrey nanism syndrome	Likely pathogenic (May 10, 2022)	criteria provided, single submitter
Select item 17054264.	NM_015294.6(TRIM37):c.137_138del (p.Glu46fs) GRCh37: Chr17:57168687-57168688 GRCh38: Chr17:59091326-59091327	TRIM37	E12fs, E46fs	Mulibrey nanism syndrome, not provided	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13237115.	NM_015294.6(TRIM37):c.447del (p.Lys149fs) GRCh37: Chr17:57158503 GRCh38: Chr17:59081142	TRIM37	K115fs, K149fs, K27fs	Mulibrey nanism syndrome	Pathogenic (Jul 1, 2019)	criteria provided, single submitter
Select item 12822436.	NM_015294.6(TRIM37):c.2386+40A>G GRCh37: Chr17:57094617 GRCh38: Chr17:59017256	TRIM37		Mulibrey nanism syndrome, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10969347.	NM_015294.6(TRIM37):c.1949-12A>G GRCh37: Chr17:57106096 GRCh38: Chr17:59028735	TRIM37		Mulibrey nanism syndrome	Pathogenic (Sep 8, 2022)	no assertion criteria provided
Select item 9863958.	NM_001098537.3(PNPLA7):c.1889+1G>A GRCh37: Chr9:140392565 GRCh38: Chr9:137498113	PNPLA7		Mulibrey nanism syndrome	Uncertain significance (Nov 16, 2020)	no assertion criteria provided
Select item 9863679.	NM_015294.6(TRIM37):c.934G>A (p.Val312Ile) GRCh37: Chr17:57139936 GRCh38: Chr17:59062575	TRIM37	V158I, V190I, V278I, V295I, V312I, V67I	Mulibrey nanism syndrome	Uncertain significance (Nov 16, 2020)	no assertion criteria provided
Select item 98636610.	NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr) GRCh37: Chr17:57105790 GRCh38: Chr17:59028429	TRIM37	C503Y, C594Y, C626Y, C714Y, C731Y, C748Y	Mulibrey nanism syndrome	Uncertain significance (Nov 16, 2020)	no assertion criteria provided
Select item 93110911.	NM_014906.5(PPM1E):c.*1892T>A GRCh37: Chr17:57060284 GRCh38: Chr17:58982923	PPM1E, TRIM37		Mulibrey nanism syndrome	Likely pathogenic (May 13, 2019)	criteria provided, single submitter
Select item 91596512.	GRCh37/hg19 17q22(chr17:57119174-57128690) GRCh37: Chr17:57119174-57128690	TRIM37		Mulibrey nanism syndrome	Pathogenic (Apr 16, 2020)	no assertion criteria provided
Select item 89177013.	NM_015294.6(TRIM37):c.-244C>T GRCh37: Chr17:57184066 GRCh38: Chr17:59106705	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89170414.	NM_015294.6(TRIM37):c.2262A>G (p.Thr754=) GRCh37: Chr17:57094781 GRCh38: Chr17:59017420	TRIM37		not provided, Mulibrey nanism syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 89170315.	NM_015294.6(TRIM37):c.2282C>T (p.Pro761Leu) GRCh37: Chr17:57094761 GRCh38: Chr17:59017400	TRIM37	P516L, P639L, P727L, P607L, P744L, P761L	Mulibrey nanism syndrome	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 89170216.	NM_015294.6(TRIM37):c.2367C>G (p.Asp789Glu) GRCh37: Chr17:57094676 GRCh38: Chr17:59017315	TRIM37	D544E, D755E, D772E, D667E, D635E, D789E	not provided, Mulibrey nanism syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89163617.	NM_015294.6(TRIM37):c.*663T>C GRCh37: Chr17:57076075 GRCh38: Chr17:58998714	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 89163518.	NM_015294.6(TRIM37):c.*925G>T GRCh37: Chr17:57075813 GRCh38: Chr17:58998452	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89163419.	NM_015294.6(TRIM37):c.*963A>G GRCh37: Chr17:57075775 GRCh38: Chr17:58998414	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89163320.	NM_015294.6(TRIM37):c.*1029A>G GRCh37: Chr17:57075709 GRCh38: Chr17:58998348	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89152721.	NM_015294.6(TRIM37):c.-100C>T GRCh37: Chr17:57183922 GRCh38: Chr17:59106561	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89152622.	NM_015294.6(TRIM37):c.369+8G>C GRCh37: Chr17:57161355 GRCh38: Chr17:59083994	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89152523.	NM_015294.6(TRIM37):c.685T>A (p.Leu229Met) GRCh37: Chr17:57148308 GRCh38: Chr17:59070947	TRIM37	L107M, L195M, L75M, L229M	Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89152424.	NM_015294.6(TRIM37):c.689G>A (p.Arg230Gln) GRCh37: Chr17:57148304 GRCh38: Chr17:59070943	TRIM37	R196Q, R76Q, R108Q, R230Q	Inborn genetic diseases, Mulibrey nanism syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89152325.	NM_015294.6(TRIM37):c.796C>T (p.Pro266Ser) GRCh37: Chr17:57148197 GRCh38: Chr17:59070836	TRIM37	P112S, P144S, P21S, P232S, P266S	Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89144626.	NM_015294.6(TRIM37):c.2543C>T (p.Ala848Val) GRCh37: Chr17:57093004 GRCh38: Chr17:59015643	TRIM37	A848V, A603V, A726V, A814V, A694V, A831V	Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89144527.	NM_015294.6(TRIM37):c.2556G>A (p.Arg852=) GRCh37: Chr17:57092991 GRCh38: Chr17:59015630	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89144428.	NM_015294.6(TRIM37):c.2695+11A>G GRCh37: Chr17:57089678 GRCh38: Chr17:59012317	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89144329.	NM_015294.6(TRIM37):c.2746G>A (p.Glu916Lys) GRCh37: Chr17:57079025 GRCh38: Chr17:59001664	LOC126862606, TRIM37	E671K, E762K, E882K, E899K, E916K, E891K, E925K	Inborn genetic diseases, Mulibrey nanism syndrome	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89138330.	NM_015294.6(TRIM37):c.*1030T>C GRCh37: Chr17:57075708 GRCh38: Chr17:58998347	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89138231.	NM_015294.6(TRIM37):c.*1060C>G GRCh37: Chr17:57075678 GRCh38: Chr17:58998317	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88996232.	NM_015294.6(TRIM37):c.1152C>T (p.Leu384=) GRCh37: Chr17:57134283 GRCh38: Chr17:59056922	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88996133.	NM_015294.6(TRIM37):c.1200-5T>C GRCh37: Chr17:57128694 GRCh38: Chr17:59051333	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88996034.	NM_015294.6(TRIM37):c.1330C>T (p.Leu444=) GRCh37: Chr17:57126739 GRCh38: Chr17:59049378	TRIM37		not provided, Mulibrey nanism syndrome	Conflicting interpretations of pathogenicity (Nov 17, 2021)	criteria provided, conflicting interpretations
Select item 88989935.	NM_015294.6(TRIM37):c.2816C>T (p.Thr939Ile) GRCh37: Chr17:57076817 GRCh38: Chr17:58999456	TRIM37	T694I, T778I, T948I, T914I, T785I, T900I, T905I, T922I, T939I	Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88989836.	NM_015294.6(TRIM37):c.*118G>T GRCh37: Chr17:57076620 GRCh38: Chr17:58999259	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 88927737.	NM_015294.6(TRIM37):c.1667+9C>T GRCh37: Chr17:57125035 GRCh38: Chr17:59047674	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88927638.	NM_015294.6(TRIM37):c.1700T>A (p.Met567Lys) GRCh37: Chr17:57119227 GRCh38: Chr17:59041866	TRIM37	M533K, M567K, M322K, M413K, M445K, M550K	Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88927539.	NM_015294.6(TRIM37):c.1750G>A (p.Ala584Thr) GRCh37: Chr17:57119177 GRCh38: Chr17:59041816	TRIM37	A430T, A550T, A339T, A567T, A584T, A462T	Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88921940.	NM_015294.6(TRIM37):c.*373A>G GRCh37: Chr17:57076365 GRCh38: Chr17:58999004	TRIM37		Mulibrey nanism syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88921841.	NM_015294.6(TRIM37):c.*484G>A GRCh37: Chr17:57076254 GRCh38: Chr17:58998893	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88921742.	NM_015294.6(TRIM37):c.*594A>G GRCh37: Chr17:57076144 GRCh38: Chr17:58998783	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88921643.	NM_015294.6(TRIM37):c.*598C>T GRCh37: Chr17:57076140 GRCh38: Chr17:58998779	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 77917444.	NM_015294.6(TRIM37):c.1754-3C>T GRCh37: Chr17:57109454 GRCh38: Chr17:59032093	TRIM37		not provided, Mulibrey nanism syndrome	Benign/Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66633345.	NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs) GRCh37: Chr17:57134281-57134282 GRCh38: Chr17:59056920-59056921	TRIM37	A231fs, A385fs, A140fs, A263fs, A351fs, A368fs	Mulibrey nanism syndrome	Likely pathogenic (Jan 4, 2016)	criteria provided, single submitter
Select item 63178046.	NM_015294.6(TRIM37):c.1870del (p.Asp624fs) GRCh37: Chr17:57109335 GRCh38: Chr17:59031974	TRIM37	D590fs, D607fs, D624fs, D379fs, D470fs, D502fs	Mulibrey nanism syndrome	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 62338647.	NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) GRCh37: Chr17:57165752 GRCh38: Chr17:59088391	TRIM37	R61, R27	Mulibrey nanism syndrome	Pathogenic (Dec 30, 2017)	criteria provided, single submitter
Select item 59919048.	NC_000017.10:g.57075470_57235248del159779 GRCh37: Chr17:57075470-57235248 GRCh38: Chr17:58998109-59157887	MIR454, PRR11, LOC126862606, MIR301A, SKA2, TRIM37		Mulibrey nanism syndrome	Likely pathogenic (Dec 8, 2018)	criteria provided, single submitter
Select item 59364049.	NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) GRCh37: Chr17:57094763 GRCh38: Chr17:59017402	TRIM37		not provided, Mulibrey nanism syndrome	Conflicting interpretations of pathogenicity (Jul 3, 2022)	criteria provided, conflicting interpretations
Select item 58752450.	NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr) GRCh37: Chr17:57105997 GRCh38: Chr17:59028636	TRIM37	K679T, K434T, K525T, K662T, K557T, K645T	Mulibrey nanism syndrome	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 58507351.	NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) GRCh37: Chr9:73213379 GRCh38: Chr9:70598463	TRPM3	V837M, V990M, V1002M, V1017M, V827M, V1027M, V849M, V1004M, V862M, V980M, V839M, V852M, V992M	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, Autosomal dominant non-syndromic intellectual disability, not provided, Intellectual disability, TRPM3 related disorder, Birk-Barel syndrome	Pathogenic/Likely pathogenic (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 56117952.	NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) GRCh37: Chr17:57157145 GRCh38: Chr17:59079784	TRIM37	Q196, Q42, Q74, Q162	Mulibrey nanism syndrome	Uncertain significance	no assertion criteria provided
Select item 36921753.	NM_001005207.3(TRIM37):c.-449dupC GRCh37: Chr17:57184270-57184271 GRCh38: Chr17:59106909-59106910	TRIM37		not provided, Mulibrey nanism syndrome	Benign (Sep 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32422254.	NM_015294.6(TRIM37):c.-419G>T GRCh37: Chr17:57184241 GRCh38: Chr17:59106880	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32422155.	NM_015294.6(TRIM37):c.-389G>T GRCh37: Chr17:57184211 GRCh38: Chr17:59106850	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32422056.	NM_015294.6(TRIM37):c.-365G>A GRCh37: Chr17:57184187 GRCh38: Chr17:59106826	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32421957.	NM_015294.6(TRIM37):c.-340T>G GRCh37: Chr17:57184162 GRCh38: Chr17:59106801	TRIM37		not provided, Mulibrey nanism syndrome	Benign (Aug 7, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32421858.	NM_015294.6(TRIM37):c.-335T>A GRCh37: Chr17:57184157 GRCh38: Chr17:59106796	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32421759.	NM_015294.6(TRIM37):c.-334C>G GRCh37: Chr17:57184156 GRCh38: Chr17:59106795	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32421660.	NM_015294.6(TRIM37):c.-296G>T GRCh37: Chr17:57184118 GRCh38: Chr17:59106757	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32421561.	NM_015294.6(TRIM37):c.-236A>G GRCh37: Chr17:57184058 GRCh38: Chr17:59106697	TRIM37		Mulibrey nanism syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32421462.	NM_015294.6(TRIM37):c.-230C>T GRCh37: Chr17:57184052 GRCh38: Chr17:59106691	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32421363.	NM_015294.6(TRIM37):c.-228C>G GRCh37: Chr17:57184050 GRCh38: Chr17:59106689	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32421264.	NM_015294.6(TRIM37):c.-224A>G GRCh37: Chr17:57184046 GRCh38: Chr17:59106685	TRIM37		not provided, Mulibrey nanism syndrome	Benign/Likely benign (Mar 10, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32421165.	NM_015294.6(TRIM37):c.-203C>A GRCh37: Chr17:57184025 GRCh38: Chr17:59106664	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32421066.	NM_015294.6(TRIM37):c.-139G>A GRCh37: Chr17:57183961 GRCh38: Chr17:59106600	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32420967.	NM_015294.6(TRIM37):c.-18C>T GRCh37: Chr17:57183840 GRCh38: Chr17:59106479	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32420868.	NM_015294.6(TRIM37):c.398C>G (p.Ala133Gly) GRCh37: Chr17:57158552 GRCh38: Chr17:59081191	TRIM37	A133G, A99G, A11G	Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32420769.	NM_015294.6(TRIM37):c.810-3del GRCh37: Chr17:57141769 GRCh38: Chr17:59064408	TRIM37		not provided, Mulibrey nanism syndrome	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 32420670.	NM_015294.6(TRIM37):c.810-13dup GRCh37: Chr17:57141768-57141769 GRCh38: Chr17:59064407-59064408	TRIM37		not provided, Mulibrey nanism syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 32420571.	NM_015294.6(TRIM37):c.828C>T (p.Tyr276=) GRCh37: Chr17:57141748 GRCh38: Chr17:59064387	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32420472.	NM_015294.6(TRIM37):c.861-6C>T GRCh37: Chr17:57140015 GRCh38: Chr17:59062654	TRIM37		not provided, Mulibrey nanism syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32420373.	NM_015294.6(TRIM37):c.943-7_943-5del GRCh37: Chr17:57138474-57138476 GRCh38: Chr17:59061113-59061115	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32420274.	NM_015294.6(TRIM37):c.1178A>G (p.Gln393Arg) GRCh37: Chr17:57134257 GRCh38: Chr17:59056896	TRIM37	Q393R, Q148R, Q359R, Q376R, Q271R, Q239R	Inborn genetic diseases, not provided, Mulibrey nanism syndrome	Uncertain significance (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32420175.	NM_015294.6(TRIM37):c.1200-11A>G GRCh37: Chr17:57128700 GRCh38: Chr17:59051339	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32420076.	NM_015294.6(TRIM37):c.1264T>C (p.Leu422=) GRCh37: Chr17:57128625 GRCh38: Chr17:59051264	TRIM37		not provided, Mulibrey nanism syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32419977.	NM_015294.6(TRIM37):c.1446C>T (p.Leu482=) GRCh37: Chr17:57126623 GRCh38: Chr17:59049262	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32419878.	NM_015294.6(TRIM37):c.1748C>A (p.Pro583His) GRCh37: Chr17:57119179 GRCh38: Chr17:59041818	TRIM37	P583H, P338H, P429H, P549H, P566H, P461H	not provided, Mulibrey nanism syndrome	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32419779.	NM_015294.6(TRIM37):c.1815C>T (p.Ser605=) GRCh37: Chr17:57109390 GRCh38: Chr17:59032029	TRIM37		not provided, Mulibrey nanism syndrome	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 32419680.	NM_015294.6(TRIM37):c.2316A>G (p.Leu772=) GRCh37: Chr17:57094727 GRCh38: Chr17:59017366	TRIM37		not provided, Mulibrey nanism syndrome	Conflicting interpretations of pathogenicity (Sep 10, 2022)	criteria provided, conflicting interpretations
Select item 32419581.	NM_015294.6(TRIM37):c.2430C>T (p.Pro810=) GRCh37: Chr17:57093117 GRCh38: Chr17:59015756	TRIM37		not provided, Mulibrey nanism syndrome	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 32419482.	NM_015294.6(TRIM37):c.2487G>T (p.Gln829His) GRCh37: Chr17:57093060 GRCh38: Chr17:59015699	TRIM37	Q829H, Q584H, Q707H, Q812H, Q675H, Q795H	Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32419383.	NM_015294.6(TRIM37):c.2512G>A (p.Val838Ile) GRCh37: Chr17:57093035 GRCh38: Chr17:59015674	TRIM37	V838I, V684I, V804I, V593I, V716I, V821I	not provided, Mulibrey nanism syndrome	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32419284.	NM_015294.6(TRIM37):c.2544G>A (p.Ala848=) GRCh37: Chr17:57093003 GRCh38: Chr17:59015642	TRIM37		not provided, Mulibrey nanism syndrome	Conflicting interpretations of pathogenicity (Oct 6, 2022)	criteria provided, conflicting interpretations
Select item 32419185.	NM_015294.6(TRIM37):c.2676T>G (p.Ala892=) GRCh37: Chr17:57089708 GRCh38: Chr17:59012347	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32419086.	NM_015294.6(TRIM37):c.2754T>C (p.His918=) GRCh37: Chr17:57079017 GRCh38: Chr17:59001656	LOC126862606, TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32418987.	NM_015294.6(TRIM37):c.2776G>T (p.Asp926Tyr) GRCh37: Chr17:57078995 GRCh38: Chr17:59001634	LOC126862606, TRIM37	D926Y, D681Y, D772Y, D892Y, D901Y, D909Y, D935Y	Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32418888.	NM_015294.6(TRIM37):c.*172C>T GRCh37: Chr17:57076566 GRCh38: Chr17:58999205	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32418789.	NM_015294.6(TRIM37):c.*235G>A GRCh37: Chr17:57076503 GRCh38: Chr17:58999142	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32418690.	NM_015294.6(TRIM37):c.*344G>A GRCh37: Chr17:57076394 GRCh38: Chr17:58999033	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32418591.	NM_015294.6(TRIM37):c.*369C>T GRCh37: Chr17:57076369 GRCh38: Chr17:58999008	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32418492.	NM_015294.6(TRIM37):c.*381T>C GRCh37: Chr17:57076357 GRCh38: Chr17:58998996	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32418393.	NM_015294.6(TRIM37):c.*622T>C GRCh37: Chr17:57076116 GRCh38: Chr17:58998755	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32418294.	NM_015294.6(TRIM37):c.*634A>T GRCh37: Chr17:57076104 GRCh38: Chr17:58998743	TRIM37		Mulibrey nanism syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32418195.	NM_015294.6(TRIM37):c.*658A>G GRCh37: Chr17:57076080 GRCh38: Chr17:58998719	TRIM37		Mulibrey nanism syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32418096.	NM_015294.6(TRIM37):c.*759T>C GRCh37: Chr17:57075979 GRCh38: Chr17:58998618	TRIM37		Mulibrey nanism syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32417997.	NM_015294.6(TRIM37):c.*836A>G GRCh37: Chr17:57075902 GRCh38: Chr17:58998541	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32417898.	NM_015294.6(TRIM37):c.*961A>G GRCh37: Chr17:57075777 GRCh38: Chr17:58998416	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32417799.	NM_015294.6(TRIM37):c.*977del GRCh37: Chr17:57075761 GRCh38: Chr17:58998400	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 324176100.	NM_015294.6(TRIM37):c.*1025A>G GRCh37: Chr17:57075713 GRCh38: Chr17:58998352	TRIM37		Mulibrey nanism syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

<< First< Prev

Page of 2