ClinVar for MedGen (Select 99347) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690267	NM_015294.6(TRIM37):c.1020-10dup	TRIM37	Duplication (intron variant)	Mulibrey nanism syndrome	GUncertain significance
Select item 2679269	NM_015294.6(TRIM37):c.2380_2383del (p.Ser794fs)	TRIM37 (S549fs +5 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely 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 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 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 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 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 2679263	NM_015294.6(TRIM37):c.2246dup (p.Tyr749Ter)	TRIM37 (Y504* +5 more)	Duplication (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
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 2679261	NM_015294.6(TRIM37):c.1291C>T (p.Gln431Ter)	TRIM37 (Q186* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 2679255	NM_015294.6(TRIM37):c.1019+2dup	TRIM37	Duplication (splice donor variant)	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)	not provided +1 more	GPathogenic/Likely 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 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 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 2679250	NM_015294.6(TRIM37):c.1081C>T (p.Arg361Ter)	TRIM37 (R116* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely 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 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 2679247	NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter)	TRIM37 (R520* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely 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 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 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 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 2679242	NM_015294.6(TRIM37):c.13_14del (p.Ser5fs)	TRIM37 (S5fs)	Microsatellite (frameshift variant +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 2573650	NM_015294.6(TRIM37):c.370-1G>A	TRIM37	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2437277	NM_015294.6(TRIM37):c.2002G>A (p.Val668Met)	TRIM37 (V423M +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 2434254	NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter)	TRIM37 (Q105* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 1705426	NM_015294.6(TRIM37):c.137_138del (p.Glu46fs)	TRIM37 (E12fs +1 more)	Microsatellite (frameshift variant +2 more)	Mulibrey nanism syndrome +1 more	GPathogenic
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 1451946	NM_015294.6(TRIM37):c.1243C>T (p.Gln415Ter)	TRIM37 (Q170* +5 more)	Single nucleotide variant (nonsense +1 more)	Mulibrey nanism syndrome +1 more	GPathogenic/Likely pathogenic
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 1282243	NM_015294.6(TRIM37):c.2386+40A>G	TRIM37	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1096934	NM_015294.6(TRIM37):c.1949-12A>G	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome	GPathogenic
Select item 986395	NM_001098537.3(PNPLA7):c.1889+1G>A	PNPLA7	Single nucleotide variant (splice donor variant)	Mulibrey nanism syndrome	GUncertain significance
Select item 986367	NM_015294.6(TRIM37):c.934G>A (p.Val312Ile)	TRIM37 (V158I +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 986366	NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr)	TRIM37 (C503Y +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 931109	NM_014906.5(PPM1E):c.*1892T>A	PPM1E, TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
Select item 915965	GRCh37/hg19 17q22(chr17:57119174-57128690)	TRIM37	Copy number loss	Mulibrey nanism syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 891526	NM_015294.6(TRIM37):c.369+8G>C	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome	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 891524	NM_015294.6(TRIM37):c.689G>A (p.Arg230Gln)	TRIM37 (R196Q +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 891446	NM_015294.6(TRIM37):c.2543C>T (p.Ala848Val)	TRIM37 (A848V +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
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 891444	NM_015294.6(TRIM37):c.2695+11A>G	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome	GUncertain significance
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 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 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 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 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 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 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 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 889277	NM_015294.6(TRIM37):c.1667+9C>T	TRIM37	Single nucleotide variant (intron variant)	Mulibrey nanism syndrome	GUncertain significance
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 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 889219	NM_015294.6(TRIM37):c.*373A>G	TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GBenign
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 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 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 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 666333	NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs)	TRIM37 (A231fs +5 more)	Insertion (frameshift variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic
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 623386	NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter)	TRIM37 (R61* +1 more)	Single nucleotide variant (nonsense +2 more)	Mulibrey nanism syndrome +1 more	GPathogenic
Select item 599190	NC_000017.10:g.57075470_57235248del159779	LOC130061315, LOC130061316 +9 more	Deletion	Mulibrey nanism syndrome	GLikely pathogenic
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 587524	NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr)	TRIM37 (K679T +5 more)	Single nucleotide variant (missense variant +1 more)	Mulibrey nanism syndrome	GUncertain significance
Select item 585073	NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	TRPM3 (V837M +12 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely 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 369217	NM_001005207.3(TRIM37):c.-449dupC	TRIM37	Duplication (genic upstream transcript variant)	not provided +1 more	GBenign
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 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 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 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 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 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 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 324215	NM_015294.6(TRIM37):c.-236A>G	TRIM37	Single nucleotide variant (5 prime UTR variant +1 more)	Mulibrey nanism syndrome	GBenign
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 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 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 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 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 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 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 324207	NM_015294.6(TRIM37):c.810-3del	TRIM37	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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