"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134501	NM_004484.4(GPC3):c.1285G>A (p.Val429Met)	GPC3 (V429M +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 239934	NM_004484.4(GPC3):c.1167-8T>C	GPC3	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1241761	NM_004484.4(GPC3):c.1033-4262dup	GPC3	Duplication (intron variant)	not provided	GBenign
Select item 1174902	NM_004484.4(GPC3):c.1033-4250del	GPC3	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 415275	NM_004484.4(GPC3):c.1032+9C>T	GPC3	Single nucleotide variant (intron variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GBenign/Likely benign
Select item 415278	NM_004484.4(GPC3):c.889A>G (p.Arg297Gly)	GPC3 (R297G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 239946	NM_004484.4(GPC3):c.876T>C (p.Ile292=)	GPC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 239945	NM_004484.4(GPC3):c.660C>T (p.Ser220=)	GPC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 476656	NM_004484.4(GPC3):c.485A>G (p.Asn162Ser)	GPC3 (N162S +2 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 239943	NM_004484.4(GPC3):c.392A>G (p.Lys131Arg)	GPC3 (K131R +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GBenign
Select item 415271	NM_004484.4(GPC3):c.359G>A (p.Arg120His)	GPC3 (R120H +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +3 more	GBenign/Likely benign
Select item 695314	NM_004484.4(GPC3):c.338-20dup	GPC3	Duplication (intron variant)	Wilms tumor 1 +2 more	GBenign/Likely benign
Select item 218527	NM_004484.4(GPC3):c.338-5del	GPC3	Deletion (intron variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 239941	NM_004484.4(GPC3):c.172C>T (p.Pro58Ser)	GPC3 (P58S)	Single nucleotide variant (missense variant)	GPC3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 543106	NM_004484.4(GPC3):c.168C>G (p.Pro56=)	GPC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign