Related gene-specific medical variations for Gene (Select 51095) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362774	NM_016302.4(CRBN):c.1034C>T (p.Pro345Leu)	CRBN, TRNT1 (P344L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 2	GUncertain significance
Select item 3269436	NM_016302.4(CRBN):c.1090A>G (p.Lys364Glu)	CRBN, TRNT1 (K364E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3077290	NM_016302.4(CRBN):c.1118G>T (p.Arg373Leu)	CRBN, TRNT1 (R373L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3052705	NM_016302.4(CRBN):c.1148+6A>G	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	CRBN-related disorder	GLikely benign
Select item 2653444	NM_016302.4(CRBN):c.1071T>C (p.His357=)	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2503153	NM_016302.4(CRBN):c.1030G>A (p.Gly344Arg)	CRBN, TRNT1 (G343R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2352236	NM_016302.4(CRBN):c.1222G>A (p.Asp408Asn)	CRBN, TRNT1 (D407N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1761492	NM_016302.4(CRBN):c.1254G>A (p.Thr418=)	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1756276	NM_016302.4(CRBN):c.1233T>C (p.Pro411=)	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1335493	NM_016302.4(CRBN):c.1308C>T (p.Asp436=)	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1326594	NM_182916.3(TRNT1):c.-76C>A	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1302609	NM_016302.4(CRBN):c.1314_1317dup (p.Leu440fs)	CRBN, TRNT1 (L439fs +1 more)	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1277739	NM_016302.4(CRBN):c.21_24dup	CRBN, TRNT1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 931807	NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys)	TRNT1 (R203K)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely pathogenic
Select item 929050	NM_016302.4(CRBN):c.1117C>T (p.Arg373Trp)	TRNT1, CRBN (R372W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 871616	NM_016302.4(CRBN):c.1221dup (p.Asp408fs)	CRBN, TRNT1 (D407fs +1 more)	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 800320	NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile)	CRBN, TRNT1 (N366I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Multiple myeloma	GLikely pathogenic
Select item 726282	NM_016302.4(CRBN):c.1242T>C (p.Phe414=)	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 717902	NM_016302.4(CRBN):c.1209G>A (p.Thr403=)	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 681405	NM_182916.3(TRNT1):c.-55_-47dup	LOC129936047, TRNT1	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 591063	NM_182916.3(TRNT1):c.472_473del (p.Met158fs)	TRNT1 (M158fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 513853	NM_182916.3(TRNT1):c.-33G>A	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 513098	NM_182916.3(TRNT1):c.-28+9G>A	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 434827	NM_016302.4(CRBN):c.1148+9A>G	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 388658	NM_182916.3(TRNT1):c.-47C>T	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 387457	NM_182916.3(TRNT1):c.-28+17C>G	TRNT1, LOC129936047	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 386930	NM_182916.3(TRNT1):c.-50C>T	LOC129936047, TRNT1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 384903	NM_182916.3(TRNT1):c.-28+10C>G	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 210759	NM_016302.4(CRBN):c.1274C>T (p.Thr425Met)	CRBN, TRNT1 (T425M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 209144	NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)	CRBN, TRNT1 (C391R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 1821	NM_016302.4(CRBN):c.1255C>T (p.Arg419Ter)	CRBN, TRNT1 (R419* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity

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Items: 31