Related gene-specific medical variations for Gene (Select 4591) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022878	NM_015294.6(TRIM37):c.2775C>T (p.His925=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3018094	NM_015294.6(TRIM37):c.2805G>A (p.Pro935=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2997656	NM_015294.6(TRIM37):c.2805G>C (p.Pro935=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2992895	NM_015294.6(TRIM37):c.2802C>A (p.Pro934=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2968030	NM_015294.6(TRIM37):c.2696-16_2696-14del	TRIM37, LOC126862606 (P903del +1 more)	Deletion (inframe_deletion +2 more)	not provided	GLikely benign
Select item 2874885	NM_015294.6(TRIM37):c.2727C>T (p.Asp909=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2859268	NM_015294.6(TRIM37):c.2730T>C (p.Thr910=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2832845	NM_015294.6(TRIM37):c.2784C>T (p.Phe928=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2829905	NM_015294.6(TRIM37):c.2812+16T>C	LOC126862606, TRIM37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822482	NM_015294.6(TRIM37):c.2812+15G>A	LOC126862606, TRIM37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797328	NM_015294.6(TRIM37):c.2812+12G>A	LOC126862606, TRIM37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778354	NM_015294.6(TRIM37):c.2808T>C (p.Asp936=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2768341	NM_015294.6(TRIM37):c.2709C>T (p.Asp903=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2717682	NM_015294.6(TRIM37):c.2763G>A (p.Val921=)	LOC126862606, TRIM37	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2690267	NM_015294.6(TRIM37):c.1020-10dup	TRIM37	Duplication (intron variant)	Mulibrey nanism syndrome	GUncertain significance
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 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 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 2679249	NM_015294.6(TRIM37):c.1668-1G>C	TRIM37	Single nucleotide variant (splice acceptor variant)	Mulibrey nanism syndrome	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 2647970	NM_014906.5(PPM1E):c.2053C>T (p.Pro685Ser)	PPM1E, TRIM37 (P685S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2615738	NM_014906.5(PPM1E):c.815T>C (p.Phe272Ser)	TRIM37, PPM1E (F272S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595631	NM_014906.5(PPM1E):c.1979C>T (p.Pro660Leu)	PPM1E, TRIM37 (P660L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2589455	NM_014906.5(PPM1E):c.2035C>T (p.His679Tyr)	PPM1E, TRIM37 (H679Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460235	NM_014906.5(PPM1E):c.881G>A (p.Arg294His)	PPM1E, TRIM37 (R294H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2398760	NM_014906.5(PPM1E):c.1450A>G (p.Ile484Val)	PPM1E, TRIM37 (I484V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344619	NM_014906.5(PPM1E):c.1774T>G (p.Phe592Val)	TRIM37, PPM1E (F592V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323269	NM_014906.5(PPM1E):c.2259A>C (p.Lys753Asn)	PPM1E, TRIM37 (K753N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311818	NM_014906.5(PPM1E):c.2261T>C (p.Ile754Thr)	TRIM37, PPM1E (I754T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299503	NM_014906.5(PPM1E):c.1978C>G (p.Pro660Ala)	TRIM37, PPM1E (P660A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285959	NM_014906.5(PPM1E):c.2202G>A (p.Met734Ile)	TRIM37, PPM1E (M734I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259833	NM_014906.5(PPM1E):c.1762C>T (p.Pro588Ser)	TRIM37, PPM1E (P588S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232961	NM_014906.5(PPM1E):c.1966C>G (p.Gln656Glu)	PPM1E, TRIM37 (Q656E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2185820	NM_015294.6(TRIM37):c.2705G>C (p.Ser902Thr)	LOC126862606, TRIM37 (S877T +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2183796	NM_015294.6(TRIM37):c.2742G>A (p.Glu914=)	TRIM37, LOC126862606	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2177524	NM_015294.6(TRIM37):c.2706C>T (p.Ser902=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2166911	NM_015294.6(TRIM37):c.2715C>T (p.Asp905=)	LOC126862606, TRIM37	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1668449	NM_015294.6(TRIM37):c.2766C>T (p.Gly922=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1589778	NM_015294.6(TRIM37):c.2733G>A (p.Glu911=)	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1431491	NM_015294.6(TRIM37):c.2707G>A (p.Asp903Asn)	LOC126862606, TRIM37 (D903N +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1415159	NM_015294.6(TRIM37):c.2700G>A (p.Met900Ile)	LOC126862606, TRIM37 (M655I +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1206427	NM_015294.6(TRIM37):c.2812+68T>G	LOC126862606, TRIM37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197064	NM_014906.5(PPM1E):c.*1914C>T	PPM1E, TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1195503	NM_015294.6(TRIM37):c.2812+143del	LOC126862606, TRIM37	Deletion (intron variant)	not provided	GLikely benign
Select item 1188455	NM_015294.6(TRIM37):c.2812+129dup	LOC126862606, TRIM37	Duplication (intron variant)	not provided	GLikely benign
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 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 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 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 265280	NM_015294.6(TRIM37):c.2696-2A>G	LOC126862606, TRIM37	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely pathogenic
Select item 56574	NM_015294.6(TRIM37):c.965G>T (p.Gly322Val)	TRIM37 (G322V +5 more)	Single nucleotide variant (missense 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 56563	NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs)	TRIM37 (M102fs +5 more)	Duplication (frameshift variant +1 more)	Mulibrey nanism syndrome	GLikely pathogenic

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Items: 71