"DPH1-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051893	NM_001383.6(DPH1):c.114G>A (p.Lys38=)	DPH1	Single nucleotide variant (synonymous variant +2 more)	DPH1-related condition	GLikely benign
Select item 521028	NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	DPH1 (L125P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3058749	NM_001383.6(DPH1):c.384C>T (p.Tyr128=)	DPH1	Single nucleotide variant (synonymous variant +2 more)	DPH1-related condition	GLikely benign
Select item 3056642	NM_001383.6(DPH1):c.549G>A (p.Ser183=)	DPH1	Single nucleotide variant (synonymous variant +2 more)	DPH1-related condition	GBenign
Select item 740500	NM_001383.6(DPH1):c.561A>G (p.Ala187=)	DPH1	Single nucleotide variant (synonymous variant +1 more)	DPH1-related condition +1 more	GLikely benign
Select item 740425	NM_001383.6(DPH1):c.582C>T (p.Ala194=)	DPH1	Single nucleotide variant (synonymous variant +1 more)	DPH1-related condition +1 more	GLikely benign
Select item 791430	NM_001383.6(DPH1):c.731C>G (p.Pro244Arg)	DPH1 (P238R +3 more)	Single nucleotide variant (missense variant +1 more)	DPH1-related condition +1 more	GBenign/Likely benign
Select item 3052826	NM_001383.6(DPH1):c.771C>A (p.Val257=)	DPH1	Single nucleotide variant (synonymous variant +1 more)	DPH1-related condition	GLikely benign
Select item 735332	NM_001383.6(DPH1):c.867G>C (p.Leu289=)	DPH1	Single nucleotide variant (synonymous variant +2 more)	DPH1-related condition +1 more	GLikely benign
Select item 722503	NM_001383.6(DPH1):c.1093G>C (p.Val365Leu)	DPH1 (V230L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign