ClinVar for Gene (Select 339883) - ClinVar

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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	AZI2, CCR4 +93 more	Deletion	not provided	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	GOLGA4, MIR26A1 +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	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +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

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Links from Gene

Items: 22