30185[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155626	GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1	CHL1, CHL1-AS1 +37 more	Copy number loss	See cases	GUncertain significance
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150610	GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1	CHL1, CHL1-AS1 +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149555	GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 144853	GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 154669	GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1	CHL1, CHL1-AS1 +72 more	Copy number loss	See cases	GPathogenic
Select item 154452	GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3	ARL8B, BHLHE40 +126 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147496	GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 146281	GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1	ARL8B, BHLHE40 +102 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
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 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	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 57737	GRCh38/hg38 3p26.3-26.1(chr3:63843-4708786)x1	CHL1, CHL1-AS1 +66 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 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 57172	GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1	ARL8B, BHLHE40 +120 more	Copy number loss	See cases	GPathogenic
Select item 60049	GRCh38/hg38 3p26.3-26.2(chr3:2301168-3219257)x1	CNTN4, CNTN4-AS1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 57693	GRCh38/hg38 3p26.3-26.2(chr3:2577647-3615783)x3	CNTN4, CNTN4-AS1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 155549	GRCh38/hg38 3p26.3-26.2(chr3:2740571-3165943)x3	CNTN4, CNTN4-AS1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 154282	GRCh38/hg38 3p26.2(chr3:2847667-3320817)x3	CNTN4, CNTN4-AS1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 153151	GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 153379	GRCh38/hg38 3p26.2(chr3:3060140-3263298)x1	CNTN4-AS1, CRBN +9 more	Copy number loss	See cases	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 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 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 210759	NM_016302.4(CRBN):c.1274C>T (p.Thr425Met)	TRNT1, CRBN (T425M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
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 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 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 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 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 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 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 209144	NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)	CRBN, TRNT1 (C391R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 2 +1 more	GLikely pathogenic
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 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 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 929050	NM_016302.4(CRBN):c.1117C>T (p.Arg373Trp)	CRBN, TRNT1 (R372W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	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 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 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 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 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 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)	not provided +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

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