CRBN[gene] and "single gene"[properties] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 210765	NM_016302.4(CRBN):c.937G>C (p.Asp313His)	CRBN (D313H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1180660	NM_016302.4(CRBN):c.913_914dup (p.Gln306fs)	CRBN (Q305fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2409085	NM_016302.4(CRBN):c.849A>C (p.Arg283Ser)	CRBN (R282S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 984705	NM_016302.4(CRBN):c.835+1G>A	CRBN	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 2	GPathogenic
Select item 987486	NM_016302.4(CRBN):c.807dup (p.Asp270fs)	CRBN (D269fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3077296	NM_016302.4(CRBN):c.797A>G (p.Glu266Gly)	CRBN (E266G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1255409	NM_016302.4(CRBN):c.750+32A>G	CRBN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 128857	NM_016302.4(CRBN):c.735T>C (p.Tyr245=)	CRBN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2617545	NM_016302.4(CRBN):c.725G>C (p.Arg242Pro)	CRBN (R242P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758080	NM_016302.4(CRBN):c.724C>T (p.Arg242Cys)	CRBN (R241C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 2 +1 more	GConflicting classifications of pathogenicity
Select item 2206184	NM_016302.4(CRBN):c.662A>G (p.Tyr221Cys)	CRBN (Y220C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 210763	NM_016302.4(CRBN):c.654A>G (p.Gln218=)	CRBN	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1336608	NM_016302.4(CRBN):c.634C>G (p.Pro212Ala)	CRBN (P211A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2254411	NM_016302.4(CRBN):c.622T>C (p.Phe208Leu)	CRBN (F207L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526459	NM_016302.4(CRBN):c.615C>G (p.Cys205Trp)	CRBN (C205W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257658	NM_016302.4(CRBN):c.614G>A (p.Cys205Tyr)	CRBN (C205Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045564	NM_016302.4(CRBN):c.594A>G (p.Gln198=)	CRBN	Single nucleotide variant (synonymous variant)	CRBN-related disorder	GLikely benign
Select item 3033619	NM_016302.4(CRBN):c.589G>A (p.Val197Ile)	CRBN (V196I +1 more)	Single nucleotide variant (missense variant)	CRBN-related disorder	GLikely benign
Select item 1336253	NM_016302.4(CRBN):c.584C>T (p.Ser195Phe)	CRBN (S194F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672924	NM_016302.4(CRBN):c.576A>C (p.Ser192=)	CRBN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336609	NM_016302.4(CRBN):c.564T>C (p.Cys188=)	CRBN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1336462	NM_016302.4(CRBN):c.480T>C (p.Ile160=)	CRBN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 735086	NM_016302.4(CRBN):c.438A>G (p.Glu146=)	CRBN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2472939	NM_016302.4(CRBN):c.434G>A (p.Arg145Gln)	CRBN (R145Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2653445	NM_016302.4(CRBN):c.411A>C (p.Thr137=)	CRBN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2259285	NM_016302.4(CRBN):c.401A>G (p.Gln134Arg)	CRBN (Q133R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 210762	NM_016302.4(CRBN):c.377+13A>C	CRBN	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3077293	NM_016302.4(CRBN):c.300G>T (p.Gln100His)	CRBN (Q100H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 210760	NM_016302.4(CRBN):c.286A>G (p.Thr96Ala)	CRBN (T96A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695057	NM_016302.4(CRBN):c.279C>A (p.Pro93=)	CRBN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025879	NM_016302.4(CRBN):c.255A>G (p.Pro85=)	CRBN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3077292	NM_016302.4(CRBN):c.226G>A (p.Asp76Asn)	CRBN (D76N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 128856	NM_016302.4(CRBN):c.219C>T (p.His73=)	CRBN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077291	NM_016302.4(CRBN):c.203A>G (p.His68Arg)	CRBN (H68R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 128854	NM_016302.4(CRBN):c.175-5T>A	CRBN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 128855	NM_016302.4(CRBN):c.175-9T>C	CRBN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2336704	NM_016302.4(CRBN):c.154A>G (p.Ser52Gly)	CRBN (S51G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321315	NM_016302.4(CRBN):c.129dup (p.Pro44fs)	CRBN (P43fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 2	GPathogenic
Select item 1690413	NM_016302.4(CRBN):c.124A>T (p.Lys42Ter)	CRBN (K41* +1 more)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 2441986	NM_016302.4(CRBN):c.94G>A (p.Glu32Lys)	CRBN (E31K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 2	GUncertain significance
Select item 210764	NM_016302.4(CRBN):c.88G>A (p.Glu30Lys)	CRBN (E30K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3257017	NM_016302.4(CRBN):c.84A>T (p.Glu28Asp)	CRBN (E27D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323009	NM_016302.4(CRBN):c.72G>C (p.Glu24Asp)	CRBN (E24D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434828	NM_016302.4(CRBN):c.57_65del (p.Leu20_Pro22del)	CRBN	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2367615	NM_016302.4(CRBN):c.40A>G (p.Met14Val)	CRBN (M14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1028016	NM_016302.4(CRBN):c.40A>T (p.Met14Leu)	CRBN (M14L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2554946	NM_016302.4(CRBN):c.35A>C (p.His12Pro)	CRBN (H12P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225446	NM_016302.4(CRBN):c.34C>G (p.His12Asp)	CRBN (H12D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 210761	NM_016302.4(CRBN):c.34C>T (p.His12Tyr)	CRBN (H12Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077295	NM_016302.4(CRBN):c.31G>T (p.Ala11Ser)	CRBN (A11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077294	NM_016302.4(CRBN):c.31G>A (p.Ala11Thr)	CRBN (A11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1032730	NM_016302.4(CRBN):c.29C>G (p.Ala10Gly)	CRBN (A10G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 2	GUncertain significance
Select item 743231	NM_016302.4(CRBN):c.27C>G (p.Asp9Glu)	CRBN (D9E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 434824	NM_016302.4(CRBN):c.20A>G (p.Gln7Arg)	CRBN (Q7R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 434825	NM_016302.4(CRBN):c.16G>C (p.Asp6His)	CRBN (D6H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238538	NM_016302.4(CRBN):c.7G>A (p.Gly3Ser)	CRBN (G3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434826	NM_016302.4(CRBN):c.7G>C (p.Gly3Arg)	CRBN (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 62