"Baylor Genetics"[submitter] AND "TRIM37"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679266	NM_015294.6(TRIM37):c.2804del (p.Pro935fs)	LOC126862606, TRIM37 (P690fs +6 more)	Deletion (frameshift variant +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3240624	NM_015294.6(TRIM37):c.2695+1G>A	TRIM37	Single nucleotide variant (splice donor variant)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3240625	NM_015294.6(TRIM37):c.2576+1G>A	TRIM37	Single nucleotide variant (splice donor variant)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679252	NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs)	TRIM37 (L568fs +5 more)	Insertion (frameshift variant +1 more)	Mulibrey nanism syndrome	GPathogenic
Select item 3240623	NM_015294.6(TRIM37):c.2395G>T (p.Gly799Ter)	TRIM37 (G554* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679269	NM_015294.6(TRIM37):c.2380_2383del (p.Ser794fs)	TRIM37 (S549fs +5 more)	Microsatellite (frameshift variant +1 more)	Mulibrey nanism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679264	NM_015294.6(TRIM37):c.2377_2378del (p.Leu793fs)	TRIM37 (L548fs +5 more)	Microsatellite (frameshift variant +1 more)	Mulibrey nanism syndrome	GPathogenic
Select item 2679247	NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter)	TRIM37 (R520* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679263	NM_015294.6(TRIM37):c.2246dup (p.Tyr749Ter)	TRIM37 (Y504* +5 more)	Duplication (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679243	NM_015294.6(TRIM37):c.2237_2243del (p.Ala746fs)	TRIM37 (A501fs +5 more)	Deletion (frameshift variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3240626	NM_015294.6(TRIM37):c.2186_2187del (p.Ser729fs)	TRIM37 (S484fs +5 more)	Microsatellite (frameshift variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 56567	NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)	TRIM37 (R686* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome	GPathogenic
Select item 2679265	NM_015294.6(TRIM37):c.2015dup (p.Leu672fs)	TRIM37 (L427fs +5 more)	Duplication (frameshift variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679248	NM_015294.6(TRIM37):c.1999C>T (p.Arg667Ter)	TRIM37 (R422* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome +1 more	GPathogenic
Select item 2679244	NM_015294.6(TRIM37):c.1987C>T (p.Gln663Ter)	TRIM37 (Q418* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3240634	NM_015294.6(TRIM37):c.1965del (p.Asp656fs)	TRIM37 (D411fs +5 more)	Deletion (frameshift variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 1690784	NM_015294.6(TRIM37):c.1948+2T>C	TRIM37	Single nucleotide variant (splice donor variant)	See cases +1 more	GLikely pathogenic
Select item 3240630	NM_015294.6(TRIM37):c.1939C>T (p.Gln647Ter)	TRIM37 (Q402* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 56566	NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)	TRIM37 (E598fs +5 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2679260	NM_015294.6(TRIM37):c.1808T>A (p.Leu603Ter)	TRIM37 (L358* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3240633	NM_015294.6(TRIM37):c.1686_1692dup (p.Asn565delinsGlyIleTer)	TRIM37	Duplication (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679249	NM_015294.6(TRIM37):c.1668-1G>C	TRIM37	Single nucleotide variant (splice acceptor variant)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3240622	NM_015294.6(TRIM37):c.1620del (p.Thr541fs)	TRIM37 (T296fs +5 more)	Deletion (frameshift variant +1 more)	Mulibrey nanism syndrome	GPathogenic
Select item 56565	NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)	TRIM37 (R471* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome +1 more	GPathogenic
Select item 3240628	NM_015294.6(TRIM37):c.1349C>G (p.Ser450Ter)	TRIM37 (S205* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679259	NM_015294.6(TRIM37):c.1320_1323del (p.Thr441fs)	TRIM37 (T196fs +5 more)	Deletion (frameshift variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3240627	NM_015294.6(TRIM37):c.1298_1301del (p.Ile433fs)	TRIM37 (I188fs +5 more)	Deletion (frameshift variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679261	NM_015294.6(TRIM37):c.1291C>T (p.Gln431Ter)	TRIM37 (Q186* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679245	NM_015294.6(TRIM37):c.1289dup (p.Gln431fs)	TRIM37 (Q186fs +5 more)	Duplication (frameshift variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3240632	NM_015294.6(TRIM37):c.1250G>A (p.Trp417Ter)	TRIM37 (W172* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 1451946	NM_015294.6(TRIM37):c.1243C>T (p.Gln415Ter)	TRIM37 (Q170* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 985870	NM_015294.6(TRIM37):c.1225_1228del (p.Phe409fs)	TRIM37 (F164fs +5 more)	Microsatellite (frameshift variant +1 more)	Mulibrey nanism syndrome +1 more	GPathogenic
Select item 2679250	NM_015294.6(TRIM37):c.1081C>T (p.Arg361Ter)	TRIM37 (R116* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3240631	NM_015294.6(TRIM37):c.1020-1G>T	TRIM37	Single nucleotide variant (splice acceptor variant)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679246	NM_015294.6(TRIM37):c.1020-1G>C	TRIM37	Single nucleotide variant (splice acceptor variant)	Mulibrey nanism syndrome +1 more	GLikely pathogenic
Select item 2679255	NM_015294.6(TRIM37):c.1019+2dup	TRIM37	Duplication (splice donor variant)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679267	NM_015294.6(TRIM37):c.961C>T (p.Arg321Ter)	TRIM37 (R167* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679254	NM_015294.6(TRIM37):c.937del (p.Tyr313fs)	TRIM37 (Y159fs +5 more)	Deletion (frameshift variant +1 more)	Mulibrey nanism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56572	NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)	TRIM37 (T35fs +4 more)	Deletion (frameshift variant +2 more)	Mulibrey nanism syndrome	GPathogenic
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 3240629	NM_015294.6(TRIM37):c.643del (p.Thr215fs)	TRIM37 (T181fs +3 more)	Deletion (frameshift variant +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679258	NM_015294.6(TRIM37):c.640G>T (p.Glu214Ter)	TRIM37 (E180* +3 more)	Single nucleotide variant (nonsense +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679268	NM_015294.6(TRIM37):c.637C>T (p.Gln213Ter)	TRIM37 (Q179* +3 more)	Single nucleotide variant (nonsense +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3240621	NM_015294.6(TRIM37):c.616+1G>A	TRIM37	Single nucleotide variant (splice donor variant)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679253	NM_015294.6(TRIM37):c.609_610del (p.Leu204fs)	TRIM37 (L170fs +3 more)	Microsatellite (frameshift variant +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 561179	NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter)	TRIM37 (Q196* +3 more)	Single nucleotide variant (nonsense +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 5240	NM_015294.6(TRIM37):c.493-2A>G	TRIM37	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1323711	NM_015294.6(TRIM37):c.447del (p.Lys149fs)	TRIM37 (K115fs +2 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 2573650	NM_015294.6(TRIM37):c.370-1G>A	TRIM37	Single nucleotide variant (splice acceptor variant)	Mulibrey nanism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679257	NM_015294.6(TRIM37):c.265G>T (p.Glu89Ter)	TRIM37 (E55* +1 more)	Single nucleotide variant (nonsense +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 56569	NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro)	TRIM37 (L76P +1 more)	Single nucleotide variant (missense variant +2 more)	Mulibrey nanism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 623386	NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter)	TRIM37 (R61* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 2679262	NM_015294.6(TRIM37):c.165-2A>G	TRIM37	Single nucleotide variant (splice acceptor variant)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679251	NM_015294.6(TRIM37):c.123+1G>A	TRIM37	Single nucleotide variant (splice donor variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2860357	NM_015294.6(TRIM37):c.81del (p.Cys28fs)	TRIM37 (C28fs)	Deletion (frameshift variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679256	NM_015294.6(TRIM37):c.40C>T (p.Arg14Ter)	TRIM37 (R14*)	Single nucleotide variant (nonsense +3 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2679242	NM_015294.6(TRIM37):c.13_14del (p.Ser5fs)	TRIM37 (S5fs)	Microsatellite (frameshift variant +2 more)	Mulibrey nanism syndrome	GLikely pathogenic

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Items: 57