ClinVar for Gene (Select 54039) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248201	NC_000021.8:g.(?_45647421)_(47865240_?)dup	ADARB1, AIRE +44 more	Duplication	not provided	GUncertain significance
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 3209070	NM_001384156.1(PCBP3):c.823G>A (p.Glu275Lys)	PCBP3 (E274K +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209068	NM_001384156.1(PCBP3):c.607C>T (p.Pro203Ser)	PCBP3 (P171S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209067	NM_001384156.1(PCBP3):c.316A>G (p.Met106Val)	PCBP3 (M106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
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 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	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 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 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 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	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 3060839	NM_001384156.1(PCBP3):c.675+475C>T	PCBP3 (R223*)	Single nucleotide variant (nonsense +1 more)	PCBP3-related disorder	GBenign
Select item 3059228	NM_001384156.1(PCBP3):c.423T>C (p.Cys141=)	PCBP3	Single nucleotide variant (synonymous variant +1 more)	PCBP3-related disorder	GBenign
Select item 3059170	NM_001384156.1(PCBP3):c.676-17TC[6]	PCBP3	Microsatellite (intron variant)	PCBP3-related disorder	GLikely benign
Select item 3055844	NM_001384156.1(PCBP3):c.166-8dup	PCBP3	Duplication (intron variant)	PCBP3-related disorder	GLikely benign
Select item 3054376	NM_001384156.1(PCBP3):c.522G>A (p.Thr174=)	PCBP3	Single nucleotide variant (synonymous variant +1 more)	PCBP3-related disorder	GLikely benign
Select item 3050353	NM_001384156.1(PCBP3):c.804G>A (p.Lys268=)	PCBP3	Single nucleotide variant (synonymous variant +2 more)	PCBP3-related disorder	GLikely benign
Select item 3039600	NM_001384156.1(PCBP3):c.166-8del	PCBP3	Deletion (intron variant)	PCBP3-related disorder	GLikely benign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684923	GRCh37/hg19 21q22.3(chr21:47168514-47399375)x3	PCBP3	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
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 2557881	NM_001384156.1(PCBP3):c.871C>T (p.Pro291Ser)	PCBP3 (P271S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533924	NM_001384156.1(PCBP3):c.571G>A (p.Val191Ile)	PCBP3 (V159I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524775	NM_001384156.1(PCBP3):c.527G>A (p.Arg176Gln)	PCBP3 (R144Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2395631	NM_001384156.1(PCBP3):c.1099G>A (p.Gly367Arg)	PCBP3 (G341R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266200	NM_001384156.1(PCBP3):c.1104G>A (p.Met368Ile)	PCBP3 (M367I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260710	NM_001384156.1(PCBP3):c.631C>T (p.Arg211Cys)	PCBP3 (R179C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237284	NM_001384156.1(PCBP3):c.158A>C (p.His53Pro)	PCBP3 (H53P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227648	NM_001384156.1(PCBP3):c.815A>G (p.His272Arg)	PCBP3 (H240R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207793	NM_001384156.1(PCBP3):c.864C>A (p.Asp288Glu)	PCBP3 (D262E +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809258	GRCh37/hg19 21q22.3(chr21:46882064-47963149)x3	C21orf58, COL18A1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1809227	GRCh37/hg19 21q22.3(chr21:47028161-47330896)x3	PCBP3	Copy number gain	not provided	GUncertain significance
Select item 1808467	GRCh37/hg19 21q22.3(chr21:47168520-47413635)x3	COL6A1, PCBP3	Copy number gain	not provided	GUncertain significance
Select item 1710511	GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1	SUMO3, TRPM2 +32 more	Copy number loss	not provided	GPathogenic
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 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526725	GRCh37/hg19 21q22.3(chr21:45773272-48097372)	ADARB1, C21orf58 +42 more	Copy number loss	not specified	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	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 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	ABCG1, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1412950	NC_000021.8:g.(?_46306283)_(47865240_?)del	ADARB1, C21orf58 +17 more	Deletion	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	ADARB1, PRDM15 +74 more	Duplication	Cataract 9 multiple types +2 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 1340500	GRCh37/hg19 21q22.3(chr21:46922436-48097372)x3	C21orf58, COL18A1 +13 more	Copy number gain	not provided	GUncertain significance
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 980241	GRCh37/hg19 21q22.3(chr21:47279953-48097372)x3	C21orf58, COL6A1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816184	GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1	C21orf58, COL18A1 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 816180	GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1	ADARB1, C21orf58 +41 more	Copy number loss	not provided	GUncertain significance
Select item 816179	GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1	ADARB1, AIRE +50 more	Copy number loss	not provided	GLikely pathogenic
Select item 816178	GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1	ADARB1, AGPAT3 +54 more	Copy number loss	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 781522	NM_001384156.1(PCBP3):c.1086G>A (p.Thr362=)	PCBP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712872	NM_001384156.1(PCBP3):c.15C>T (p.Asp5=)	PCBP3	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 686963	GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1	ADARB1, AGPAT3 +51 more	Copy number loss	not provided	GPathogenic
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 685800	GRCh37/hg19 21q22.3(chr21:47168513-47418361)x3	COL6A1, PCBP3	Copy number gain	not provided	GUncertain significance
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 560066	Single allele	ADARB1, C21orf58 +19 more	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443167	GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394602	GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1	C21orf58, COL6A1 +12 more	Copy number loss	See cases	GLikely pathogenic
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 253527	GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1	ADARB1, C21orf58 +19 more	Copy number loss	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 253347	GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3	C21orf58, COL18A1 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 221407	GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1	COL6A1, COL6A2 +10 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221356	chr21:45970718..47545826 complex variant	ADARB1, COL18A1 +29 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	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 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	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 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 153558	GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1	C21orf58, COL6A1 +50 more	Copy number loss	See cases	GUncertain significance
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 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	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

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