GABPB1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 2290158	NM_016654.5(GABPB1):c.960C>G (p.Ile320Met)	GABPB1 (I331M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518286	NM_016654.5(GABPB1):c.595G>A (p.Val199Ile)	GABPB1 (V199I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645327	NM_016654.5(GABPB1):c.583+37G>T	GABPB1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2685516	GRCh37/hg19 15q21.2(chr15:50582422-51322910)x1	AP4E1, GABPB1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684757	GRCh37/hg19 15q21.2(chr15:50595262-51210478)x3	AP4E1, GABPB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	DTWD1, AP4E1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1703610	GRCh37/hg19 15q21.2(chr15:50550911-50902848)	GABPB1, HDC +3 more	Copy number loss	Neurodevelopmental delay	GUncertain significance
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AP4E1 +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic

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Items: 26