"Invitae"[submitter] AND "LOC130008712"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2167146	NM_080911.3(UNG):c.105G>A (p.Gly35=)	LOC130008712, UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1517560	NM_080911.3(UNG):c.110C>A (p.Pro37His)	UNG, LOC130008712 (P37H)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1620519	NM_080911.3(UNG):c.120C>T (p.Ser40=)	LOC130008712, UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 947290	NM_080911.3(UNG):c.124G>C (p.Asp42His)	LOC130008712, UNG (D42H)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1105951	NM_080911.3(UNG):c.126T>C (p.Asp42=)	LOC130008712, UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2766157	NM_080911.3(UNG):c.129G>A (p.Ala43=)	LOC130008712, UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2725894	NM_080911.3(UNG):c.132+1G>A	LOC130008712, UNG	Single nucleotide variant (splice donor variant)	Hyper-IgM syndrome type 5	GLikely pathogenic
Select item 1530114	NM_080911.3(UNG):c.132+14T>G	LOC130008712, UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1566199	NM_080911.3(UNG):c.132+16G>T	LOC130008712, UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1952623	NM_080911.3(UNG):c.132+19C>T	LOC130008712, UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign