54097[Gene ID] - ClinVar

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

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC126653326, LOC126653327 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066833, LOC130066834 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	CBR1-AS1, CBR3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066700, LOC130066701 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066665, LOC130066666 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653316, LOC126653317 +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	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066436, LOC130066437 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +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	KRTAP13-3, KRTAP13-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, MIR6814 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066541, LOC130066542 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066593, LOC130066594 +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	LOC130066830, LOC130066831 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LOC130066733, LOC130066734 +643 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 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	AATBC, ABCG1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	LOC130066879, LOC130066880 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	LOC108281150, LOC110121385 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AGPAT3, AIRE +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	LOC130066848, LOC130066849 +482 more	Copy number loss	See cases	GPathogenic
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	B3GALT5, B3GALT5-AS1 +85 more	Deletion	Autism	GLikely pathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	LOC108254685, LOC108281139 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	AATBC, ABCG1 +416 more	Copy number loss	See cases	GPathogenic
Select item 714834	NM_058186.4(FAM3B):c.48C>T (p.Phe16=)	FAM3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769132	NM_058186.4(FAM3B):c.123C>G (p.Ala41=)	FAM3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 710984	NM_058186.4(FAM3B):c.163+10G>A	FAM3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2515355	NM_058186.4(FAM3B):c.185A>G (p.Lys62Arg)	FAM3B (K14R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204299	NM_058186.4(FAM3B):c.619A>T (p.Ile207Phe)	FAM3B (I207F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
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 2684916	GRCh37/hg19 21q22.2-22.3(chr21:40965330-43116823)x3	B3GALT5, BACE2 +8 more	Copy number gain	not provided	GUncertain significance
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	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 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 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)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
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	ABCG1, ADAMTS1 +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 980238	GRCh37/hg19 21q22.3(chr21:42662220-42799124)x1	MX1, MX2 +1 more	Copy number loss	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 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 688164	GRCh37/hg19 21q22.3(chr21:42714287-42943077)x1	FAM3B, MX1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 635899	Single allele	ABCG1, BACE2 +10 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
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 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443779	GRCh37/hg19 21q22.3(chr21:42661850-43590844)x3	C2CD2, FAM3B +7 more	Copy number gain	See cases	GUncertain significance
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 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	DSCAM, FAM3B +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 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	SPATC1L, SUMO3 +217 more	Copy number gain	See cases	GPathogenic
Select item 394099	GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	ABCG1, B3GALT5 +28 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 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	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 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: 81