"Genome-Nilou Lab"[submitter] AND "ASPH"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192457	NM_004318.4(ASPH):c.2127-6C>T	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 1192458	NM_004318.4(ASPH):c.1900+6T>C	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 1192459	NM_004318.4(ASPH):c.1626+10A>G	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 1192460	NM_004318.4(ASPH):c.1437+27G>A	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 1192461	NM_004318.4(ASPH):c.1301-79C>G	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 1192480	NM_004318.4(ASPH):c.1150-57G>A	ASPH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192481	NM_004318.4(ASPH):c.1146G>A (p.Ala382=)	ASPH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1179236	NM_004318.4(ASPH):c.935-92A>G	ASPH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192482	NM_004318.4(ASPH):c.416-81T>C	ASPH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192483	NM_004318.4(ASPH):c.-32G>A	ASPH	Single nucleotide variant (5 prime UTR variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 1192484	NM_004318.4(ASPH):c.-74T>C	ASPH, LOC130000491	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign