"GeneDx"[submitter] AND "CRBN"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 1277739	NM_016302.4(CRBN):c.21_24dup	CRBN, TRNT1	Duplication (3 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 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
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 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 2503150	NM_016302.4(CRBN):c.967T>C (p.Cys323Arg)	CRBN (C322R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371498	NM_016302.4(CRBN):c.901A>G (p.Ile301Val)	CRBN (I300V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684148	NM_016302.4(CRBN):c.791G>A (p.Trp264Ter)	CRBN (W263* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 816985	NM_016302.4(CRBN):c.641C>G (p.Ser214Ter)	CRBN (S213* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 2 +1 more	GLikely pathogenic
Select item 1032731	NM_016302.4(CRBN):c.433C>T (p.Arg145Ter)	CRBN (R144* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 2 +1 more	GPathogenic
Select item 1196420	NM_016302.4(CRBN):c.235C>T (p.Gln79Ter)	CRBN (Q78* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 128855	NM_016302.4(CRBN):c.175-9T>C	CRBN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3366196	NM_016302.4(CRBN):c.48C>G (p.Asn16Lys)	CRBN (N16K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253992	GRCh37/hg19 3p26.3-26.2(chr3:2724887-3529351)x3	CNTN4, IL5RA +2 more	Copy number gain	See cases	GUncertain significance
Select item 253369	GRCh37/hg19 3p26.3-26.2(chr3:270649-3927005)x1	CRBN, CHL1 +5 more	Copy number loss	See cases	GLikely pathogenic