CBR3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145108	GRCh38/hg38 21q22.12(chr21:36125853-36227968)x3	CBR1-AS1, CBR3 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 3138034	NM_001236.4(CBR3):c.5C>G (p.Ser2Trp)	CBR3, CBR3-AS1 (S2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138031	NM_001236.4(CBR3):c.50T>C (p.Ile17Thr)	CBR3, CBR3-AS1 (I17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400734	NM_001236.4(CBR3):c.52G>A (p.Gly18Ser)	CBR3, CBR3-AS1 (G18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138028	NM_001236.4(CBR3):c.106A>C (p.Thr36Pro)	CBR3, CBR3-AS1 (T36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260592	NM_001236.4(CBR3):c.118G>A (p.Val40Met)	CBR3, CBR3-AS1 (V40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274807	NM_001236.4(CBR3):c.153G>C (p.Gln51His)	CBR3, CBR3-AS1 (Q51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138029	NM_001236.4(CBR3):c.161G>A (p.Gly54Asp)	CBR3, CBR3-AS1 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525864	NM_001236.4(CBR3):c.188A>G (p.Asp63Gly)	CBR3, CBR3-AS1 (D63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263654	NM_001236.4(CBR3):c.256G>A (p.Val86Ile)	CBR3, CBR3-AS1 (V86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611095	NM_001236.4(CBR3):c.270C>A (p.Asn90Lys)	CBR3, CBR3-AS1 (N90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459068	NM_001236.4(CBR3):c.324G>T (p.Glu108Asp)	CBR3, CBR3-AS1 (E108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272281	NM_001236.4(CBR3):c.362T>C (p.Met121Thr)	CBR3, CBR3-AS1 (M121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138030	NM_001236.4(CBR3):c.364T>A (p.Cys122Ser)	CBR3, CBR3-AS1 (C122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773089	NM_001236.4(CBR3):c.370G>A (p.Glu124Lys)	CBR3, CBR3-AS1 (E124K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2512801	NM_001236.4(CBR3):c.380C>T (p.Pro127Leu)	CBR3, CBR3-AS1 (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277137	NM_001236.4(CBR3):c.448T>C (p.Cys150Arg)	CBR3, CBR3-AS1 (C150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138032	NM_001236.4(CBR3):c.541A>C (p.Asn181His)	CBR3, CBR3-AS1 (N181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138033	NM_001236.4(CBR3):c.547G>A (p.Val183Met)	CBR3, CBR3-AS1 (V183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289168	NM_001236.4(CBR3):c.596T>G (p.Leu199Trp)	CBR3, CBR3-AS1 (L199W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2374011	NM_001236.4(CBR3):c.605C>A (p.Thr202Lys)	CBR3, CBR3-AS1 (T202K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223804	NM_001236.4(CBR3):c.614C>G (p.Ser205Trp)	CBR3, CBR3-AS1 (S205W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138035	NM_001236.4(CBR3):c.631C>T (p.Arg211Cys)	CBR3, CBR3-AS1 (R211C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2283461	NM_001236.4(CBR3):c.674C>T (p.Ala225Val)	CBR3, CBR3-AS1 (A225V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2248364	NM_001236.4(CBR3):c.784A>G (p.Thr262Ala)	CBR3, CBR3-AS1 (T262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138036	NM_001236.4(CBR3):c.815A>G (p.Lys272Arg)	CBR3, CBR3-AS1 (K272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138037	NM_001236.4(CBR3):c.820G>A (p.Val274Met)	CBR3, CBR3-AS1 (V274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248159	NC_000021.8:g.(?_37133458)_(38884834_?)dup	CBR1, CBR3 +12 more	Duplication	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3248151	NC_000021.8:g.(?_36164432)_(37834775_?)del	CBR1, CBR3 +6 more	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 1809036	GRCh37/hg19 21q22.12(chr21:37248476-37646409)x3	CBR1, CBR3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1412731	NC_000021.8:g.(?_37507491)_(39212984_?)dup	DOP1B, CBR3 +11 more	Duplication	not provided	GUncertain significance
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	CHAF1B, CLDN14 +48 more	Duplication	Immunodeficiency 28 +3 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816163	GRCh37/hg19 21q22.12(chr21:37445791-37509955)x1	CBR3	Copy number loss	not provided	GLikely benign
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 666223	NC_000021.8:g.(?_37133458)_(38311203_?)dup	CBR3, CHAF1B +7 more	Duplication	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 564677	GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	ATP5PO, B3GALT5 +56 more	Copy number gain	not provided	GPathogenic
Select item 564653	GRCh37/hg19 21q22.12(chr21:37248475-37646409)x3	CBR1, DOP1B +2 more	Copy number gain	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443777	GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3	B3GALT5, BRWD1 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 394683	GRCh37/hg19 21q22.12(chr21:37507345-37578365)x3	CBR3, DOP1B	Copy number gain	See cases	GBenign/Likely benign
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 226275	GRCh37/hg19 21q22.12(chr21:37487858-37598197)	DOP1B, CBR3	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 59013	GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	ABCG1, B3GALT5 +56 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 93