ClinVar for Gene (Select 339883) - ClinVar

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

Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246806	NC_000003.11:g.(?_37067426)_(37502150_?)del	APRG1, GOLGA4 +3 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3062747	GRCh37/hg19 3p22.3-22.2(chr3:35969734-37443324)x3	APRG1, DCLK3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062694	GRCh37/hg19 3p22.3-22.2(chr3:35970901-37455657)x3	APRG1, DCLK3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3045795	NM_178338.2(APRG1):c.*164T>C	APRG1 (L65P)	Single nucleotide variant (missense variant +1 more)	APRG1-related disorder	GLikely benign
Select item 2685914	GRCh37/hg19 3p22.2(chr3:37338764-38109534)x3	APRG1, CTDSPL +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527009	GRCh37/hg19 3p22.2(chr3:37351426-37564634)	APRG1, GOLGA4 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527008	GRCh37/hg19 3p22.2(chr3:37347773-38109534)	APRG1, CTDSPL +6 more	Copy number gain	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 814434	GRCh37/hg19 3p22.2(chr3:36948416-37788630)x3	APRG1, EPM2AIP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688911	GRCh37/hg19 3p22.2(chr3:37355785-37564437)x1	APRG1, GOLGA4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 688578	GRCh37/hg19 3p22.2(chr3:37347149-38120470)x3	APRG1, CTDSPL +6 more	Copy number gain	not provided	GUncertain significance
Select item 624215	NR_126514.1(APRG1):n.532A>T	APRG1	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
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 153353	GRCh38/hg38 3p22.2(chr3:37309935-37523143)x1	APRG1, GOLGA4 +3 more	Copy number loss	See cases	GUncertain significance
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	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

Links from Gene

Items: 22