C4310738[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 253102	NM_003504.5(CDC45):c.203A>G (p.Gln68Arg)	CDC45 (Q68R +1 more)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 7	GLikely pathogenic
Select item 253099	NM_003504.5(CDC45):c.226A>C (p.Asn76His)	CDC45 (N76H +1 more)	Single nucleotide variant (missense variant +2 more)	Meier-Gorlin syndrome 7	GLikely pathogenic
Select item 253100	NM_003504.5(CDC45):c.469C>T (p.Arg157Cys)	CDC45 (R157C +2 more)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 7 +1 more	GConflicting classifications of pathogenicity
Select item 253097	NM_003504.5(CDC45):c.677A>G (p.Asp226Gly)	CDC45 (D226G +3 more)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 7	GLikely pathogenic
Select item 617920	NM_003504.5(CDC45):c.791C>A (p.Ser264Tyr)	CDC45 (S296Y +3 more)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 7	GUncertain significance
Select item 253104	NM_003504.5(CDC45):c.893C>T (p.Ala298Val)	CDC45 (A298V +3 more)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 7	GLikely pathogenic
Select item 617938	NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu)	CDC45 (P495L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 617940	NM_003504.5(CDC45):c.1487C>T (p.Pro496Leu)	CDC45 (P528L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 253101	NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp)	CDC45 (R554W +3 more)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 7 +1 more	GConflicting classifications of pathogenicity