"GeneDx"[submitter] AND "PGAP2"[gene] - ClinVar

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

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 1235044	NM_001145438.2(PGAP2):c.139+55C>T	PGAP2 (P20S)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 1238749	NM_001145438.2(PGAP2):c.139+207T>A	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289378	NM_001145438.2(PGAP2):c.140-301A>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182903	NM_001145438.2(PGAP2):c.140-300C>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220981	NM_001145438.2(PGAP2):c.140-227_140-225del	PGAP2	Deletion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1234659	NM_001145438.2(PGAP2):c.140-105G>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279122	NM_014489.4(PGAP2):c.-30C>G	LOC130005158, PGAP2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1236447	NM_014489.4(PGAP2):c.-10-223G>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 816936	NM_014489.4(PGAP2):c.97G>A (p.Ala33Thr)	PGAP2 (A33T +2 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1188739	NM_014489.4(PGAP2):c.165+56A>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302030	NM_014489.4(PGAP2):c.166-221G>A	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283630	NM_014489.4(PGAP2):c.166-94C>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233879	NM_014489.4(PGAP2):c.348+47T>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296690	NM_014489.4(PGAP2):c.348+134A>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264935	NM_014489.4(PGAP2):c.348+145G>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284099	NM_014489.4(PGAP2):c.348+188T>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231487	NM_014489.4(PGAP2):c.349-802A>G	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266076	NM_014489.4(PGAP2):c.349-745A>G	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302031	NM_014489.4(PGAP2):c.349-706G>A	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251538	NM_014489.4(PGAP2):c.*276dup	PGAP2	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253765	GRCh37/hg19 11p15.4(chr11:3629393-4111738)x3	NUP98, STIM1 +5 more	Copy number gain	See cases	GUncertain significance

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: 22