"Illumina Laboratory Services, Illumina"[submitter] AND "TRIM37"[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 324175	NM_015294.6(TRIM37):c.*1084C>T	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 891382	NM_015294.6(TRIM37):c.*1060C>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 891383	NM_015294.6(TRIM37):c.*1030T>C	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 891633	NM_015294.6(TRIM37):c.*1029A>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324176	NM_015294.6(TRIM37):c.*1025A>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324177	NM_015294.6(TRIM37):c.*977del	TRIM37	Deletion (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 891634	NM_015294.6(TRIM37):c.*963A>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324178	NM_015294.6(TRIM37):c.*961A>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 891635	NM_015294.6(TRIM37):c.*925G>T	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324179	NM_015294.6(TRIM37):c.*836A>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324180	NM_015294.6(TRIM37):c.*759T>C	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GLikely benign
Select item 891636	NM_015294.6(TRIM37):c.*663T>C	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324181	NM_015294.6(TRIM37):c.*658A>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GLikely benign
Select item 324182	NM_015294.6(TRIM37):c.*634A>T	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GBenign
Select item 324183	NM_015294.6(TRIM37):c.*622T>C	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 889216	NM_015294.6(TRIM37):c.*598C>T	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 889217	NM_015294.6(TRIM37):c.*594A>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 889218	NM_015294.6(TRIM37):c.*484G>A	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324184	NM_015294.6(TRIM37):c.*381T>C	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 889219	NM_015294.6(TRIM37):c.*373A>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GBenign
Select item 324185	NM_015294.6(TRIM37):c.*369C>T	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324186	NM_015294.6(TRIM37):c.*344G>A	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324187	NM_015294.6(TRIM37):c.*235G>A	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324188	NM_015294.6(TRIM37):c.*172C>T	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 889898	NM_015294.6(TRIM37):c.*118G>T	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 889899	NM_015294.6(TRIM37):c.2816C>T (p.Thr939Ile)	TRIM37 (T694I +8 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324189	NM_015294.6(TRIM37):c.2776G>T (p.Asp926Tyr)	LOC126862606, TRIM37 (D926Y +6 more)	Single nucleotide variant (missense variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324190	NM_015294.6(TRIM37):c.2754T>C (p.His918=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891443	NM_015294.6(TRIM37):c.2746G>A (p.Glu916Lys)	LOC126862606, TRIM37 (E671K +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 891444	NM_015294.6(TRIM37):c.2695+11A>G	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome	GUncertain significance
Select item 324191	NM_015294.6(TRIM37):c.2676T>G (p.Ala892=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 281654	NM_015294.6(TRIM37):c.2577-7C>G	TRIM37	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 891445	NM_015294.6(TRIM37):c.2556G>A (p.Arg852=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324192	NM_015294.6(TRIM37):c.2544G>A (p.Ala848=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	Mulibrey nanism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 891446	NM_015294.6(TRIM37):c.2543C>T (p.Ala848Val)	TRIM37 (A848V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 324193	NM_015294.6(TRIM37):c.2512G>A (p.Val838Ile)	TRIM37 (V838I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 324194	NM_015294.6(TRIM37):c.2487G>T (p.Gln829His)	TRIM37 (Q829H +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324195	NM_015294.6(TRIM37):c.2430C>T (p.Pro810=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 891702	NM_015294.6(TRIM37):c.2367C>G (p.Asp789Glu)	TRIM37 (D544E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 324196	NM_015294.6(TRIM37):c.2316A>G (p.Leu772=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	Mulibrey nanism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 891703	NM_015294.6(TRIM37):c.2282C>T (p.Pro761Leu)	TRIM37 (P516L +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 593640	NM_015294.6(TRIM37):c.2280G>A (p.Ser760=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891704	NM_015294.6(TRIM37):c.2262A>G (p.Thr754=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194971	NM_015294.6(TRIM37):c.2049C>T (p.Ala683=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 281137	NM_015294.6(TRIM37):c.1919G>A (p.Arg640His)	TRIM37 (R640H +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 631780	NM_015294.6(TRIM37):c.1870del (p.Asp624fs)	TRIM37 (D590fs +5 more)	Deletion (frameshift variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324197	NM_015294.6(TRIM37):c.1815C>T (p.Ser605=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 779174	NM_015294.6(TRIM37):c.1754-3C>T	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome +1 more	GBenign/Likely benign
Select item 889275	NM_015294.6(TRIM37):c.1750G>A (p.Ala584Thr)	TRIM37 (A430T +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324198	NM_015294.6(TRIM37):c.1748C>A (p.Pro583His)	TRIM37 (P583H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 889276	NM_015294.6(TRIM37):c.1700T>A (p.Met567Lys)	TRIM37 (M533K +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 889277	NM_015294.6(TRIM37):c.1667+9C>T	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome	GUncertain significance
Select item 324199	NM_015294.6(TRIM37):c.1446C>T (p.Leu482=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889960	NM_015294.6(TRIM37):c.1330C>T (p.Leu444=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324200	NM_015294.6(TRIM37):c.1264T>C (p.Leu422=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 889961	NM_015294.6(TRIM37):c.1200-5T>C	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 324201	NM_015294.6(TRIM37):c.1200-11A>G	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome	GUncertain significance
Select item 324202	NM_015294.6(TRIM37):c.1178A>G (p.Gln393Arg)	TRIM37 (Q393R +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome +2 more	GUncertain significance
Select item 889962	NM_015294.6(TRIM37):c.1152C>T (p.Leu384=)	TRIM37	Single nucleotide variant (synonymous variant +1 more)	Mulibrey nanism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 324203	NM_015294.6(TRIM37):c.943-7_943-5del	TRIM37	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324204	NM_015294.6(TRIM37):c.861-6C>T	TRIM37	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 324205	NM_015294.6(TRIM37):c.828C>T (p.Tyr276=)	TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324206	NM_015294.6(TRIM37):c.810-13dup	TRIM37	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324207	NM_015294.6(TRIM37):c.810-3del	TRIM37	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891523	NM_015294.6(TRIM37):c.796C>T (p.Pro266Ser)	TRIM37 (P112S +4 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 56570	NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)	TRIM37 (Q249* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891524	NM_015294.6(TRIM37):c.689G>A (p.Arg230Gln)	TRIM37 (R196Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 891525	NM_015294.6(TRIM37):c.685T>A (p.Leu229Met)	TRIM37 (L107M +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324208	NM_015294.6(TRIM37):c.398C>G (p.Ala133Gly)	TRIM37 (A133G +2 more)	Single nucleotide variant (missense variant +2 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 198216	NM_015294.6(TRIM37):c.398C>T (p.Ala133Val)	TRIM37 (A133V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 891526	NM_015294.6(TRIM37):c.369+8G>C	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome	GUncertain significance
Select item 324209	NM_015294.6(TRIM37):c.-18C>T	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 891527	NM_015294.6(TRIM37):c.-100C>T	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324210	NM_015294.6(TRIM37):c.-139G>A	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324211	NM_015294.6(TRIM37):c.-203C>A	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324212	NM_015294.6(TRIM37):c.-224A>G	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 324213	NM_015294.6(TRIM37):c.-228C>G	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324214	NM_015294.6(TRIM37):c.-230C>T	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324215	NM_015294.6(TRIM37):c.-236A>G	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GBenign
Select item 891770	NM_015294.6(TRIM37):c.-244C>T	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324216	NM_015294.6(TRIM37):c.-296G>T	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324217	NM_015294.6(TRIM37):c.-334C>G	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324218	NM_015294.6(TRIM37):c.-335T>A	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324219	NM_015294.6(TRIM37):c.-340T>G	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 324220	NM_015294.6(TRIM37):c.-365G>A	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324221	NM_015294.6(TRIM37):c.-389G>T	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 324222	NM_015294.6(TRIM37):c.-419G>T	TRIM37	Single nucleotide variant (non-coding transcript variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 369217	NM_001005207.3(TRIM37):c.-449dupC	TRIM37	Duplication (genic upstream transcript variant)	not provided +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 88