LOC126860910[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 560084	Single allele	CCNY, CCNY-AS1 +65 more	Deletion	not provided	GUncertain significance
Select item 780136	NM_003873.7(NRP1):c.549A>G (p.Ser183=)	LOC126860910, NRP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3059652	NM_003873.7(NRP1):c.537G>A (p.Val179=)	LOC126860910, NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GBenign
Select item 3041270	NM_003873.7(NRP1):c.531C>A (p.Val177=)	LOC126860910, NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3202192	NM_003873.7(NRP1):c.484G>A (p.Gly162Arg)	NRP1, LOC126860910 (G162R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324670	NM_003873.7(NRP1):c.475A>G (p.Lys159Glu)	LOC126860910, NRP1 (K159E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628920	NM_003873.7(NRP1):c.466G>A (p.Gly156Arg)	LOC126860910, NRP1 (G156R)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 2629378	NM_003873.7(NRP1):c.465T>A (p.Ser155Arg)	LOC126860910, NRP1 (S155R)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3054218	NM_003873.7(NRP1):c.456A>G (p.Thr152=)	LOC126860910, NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign