Related gene-specific medical variations for Gene (Select 80055) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233391	NM_024989.4(PGAP1):c.861-2A>G	PGAP1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 42	GPathogenic
Select item 3065982	NM_024989.4(PGAP1):c.721G>C (p.Ala241Pro)	PGAP1 (A241P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2502370	NM_024989.4(PGAP1):c.289del (p.Ser97fs)	PGAP1 (S97fs)	Deletion (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely pathogenic
Select item 2434673	NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)	PGAP1 (D419N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1676369	NM_024989.4(PGAP1):c.*203T>C	PGAP1	Single nucleotide variant	not provided	GLikely benign
Select item 1676368	NM_024989.4(PGAP1):c.1620-28A>G	PGAP1	Single nucleotide variant	not provided	GLikely benign
Select item 1676367	NM_024989.4(PGAP1):c.1552+133_1552+134insAGAA	PGAP1	Insertion	not provided	GLikely benign
Select item 1676366	NM_024989.4(PGAP1):c.1426+174A>C	PGAP1	Single nucleotide variant	not provided	GLikely benign
Select item 1676365	NM_024989.4(PGAP1):c.1351-58G>T	PGAP1	Single nucleotide variant	not provided	GLikely benign
Select item 1676364	NM_024989.4(PGAP1):c.1174-133G>A	PGAP1	Single nucleotide variant	not provided	GLikely benign
Select item 1676363	NM_024989.4(PGAP1):c.1034-164G>A	PGAP1	Single nucleotide variant	not provided	GLikely benign
Select item 1676362	NM_024989.4(PGAP1):c.478-131T>G	PGAP1	Single nucleotide variant	not provided	GLikely benign
Select item 1676361	NC_000002.12:g.196926963C>T	PGAP1	Single nucleotide variant	not provided	GLikely benign
Select item 1676356	NM_024989.4(PGAP1):c.1952+133del	PGAP1	Deletion	not provided	GLikely benign
Select item 1184935	NM_024989.4(PGAP1):c.1089+5del	PGAP1	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 986862	NM_024989.4(PGAP1):c.1089+1G>A	PGAP1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 548539	NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp)	PGAP1 (E113D)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 374623	NM_024989.4(PGAP1):c.1220G>A (p.Cys407Tyr)	PGAP1 (C407Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance