"PreventionGenetics, part of Exact Sciences"[submitter] AND "ASPH"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037021	NM_004318.4(ASPH):c.1263G>A (p.Leu421=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	ASPH-related disorder	GLikely benign
Select item 2043417	NM_004318.4(ASPH):c.1061G>T (p.Arg354Met)	ASPH (R221M +39 more)	Single nucleotide variant (missense variant)	ASPH-related disorder +1 more	GBenign
Select item 787621	NM_004318.4(ASPH):c.1020T>C (p.Thr340=)	ASPH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 718344	NM_004318.4(ASPH):c.844C>T (p.Pro282Ser)	ASPH (P253S +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3057772	NM_004318.4(ASPH):c.791-5_791-3dup	ASPH	Duplication (intron variant)	ASPH-related disorder	GLikely benign
Select item 739235	NM_004318.4(ASPH):c.783G>A (p.Glu261=)	ASPH	Single nucleotide variant (synonymous variant)	ASPH-related disorder +1 more	GLikely benign
Select item 1672301	NM_004318.4(ASPH):c.647A>G (p.Glu216Gly)	ASPH (E159G +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3038809	NM_004318.4(ASPH):c.642G>C (p.Val214=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	ASPH-related disorder	GLikely benign
Select item 3058214	NM_004318.4(ASPH):c.480C>T (p.His160=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	ASPH-related disorder	GLikely benign
Select item 3050232	NM_004318.4(ASPH):c.363A>G (p.Pro121=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	ASPH-related disorder	GLikely benign
Select item 1284779	NM_004318.4(ASPH):c.322+12710_322+12711insGAC	ASPH	Insertion (inframe_indel +1 more)	ASPH-related disorder	GLikely benign
Select item 1284625	NM_004318.4(ASPH):c.322+12708T>A	ASPH (V84E +1 more)	Single nucleotide variant (missense variant +1 more)	ASPH-related disorder	GLikely benign
Select item 3042570	NM_004318.4(ASPH):c.322+4786GAA[5]	ASPH (E174del)	Microsatellite (inframe deletion +1 more)	ASPH-related disorder	GLikely benign
Select item 1299120	NM_004318.4(ASPH):c.34_51dup (p.Asn12_Gly17dup)	ASPH, LOC130000490	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity