"PreventionGenetics, part of Exact Sciences"[submitter] AND "RNF14"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1614303	NM_016580.4(PCDH12):c.2829C>T (p.Phe943=)	RNF14, PCDH12	Single nucleotide variant (synonymous variant)	PCDH12-related disorder +1 more	GLikely benign
Select item 726855	NM_016580.4(PCDH12):c.2635C>G (p.Pro879Ala)	PCDH12, RNF14 (P879A)	Single nucleotide variant (missense variant)	PCDH12-related disorder +1 more	GBenign
Select item 1167840	NM_016580.4(PCDH12):c.2496G>A (p.Gln832=)	RNF14, PCDH12	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +2 more	GBenign
Select item 729145	NM_016580.4(PCDH12):c.2051C>G (p.Pro684Arg)	PCDH12, RNF14 (P684R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 774634	NM_016580.4(PCDH12):c.1735G>A (p.Val579Met)	PCDH12, RNF14 (V579M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3032175	NM_016580.4(PCDH12):c.1590C>G (p.Gly530=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	PCDH12-related disorder	GLikely benign
Select item 713465	NM_016580.4(PCDH12):c.1563G>A (p.Arg521=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	PCDH12-related disorder +1 more	GLikely benign
Select item 2081714	NM_016580.4(PCDH12):c.1406C>T (p.Thr469Met)	PCDH12, RNF14 (T469M)	Single nucleotide variant (missense variant)	PCDH12-related disorder +1 more	GBenign/Likely benign
Select item 777397	NM_016580.4(PCDH12):c.850A>G (p.Ser284Gly)	PCDH12, RNF14 (S284G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 720337	NM_016580.4(PCDH12):c.836T>C (p.Val279Ala)	PCDH12, RNF14 (V279A)	Single nucleotide variant (missense variant)	PCDH12-related disorder +1 more	GLikely benign
Select item 1169498	NM_016580.4(PCDH12):c.452G>A (p.Arg151Gln)	PCDH12, RNF14 (R151Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1168749	NM_016580.4(PCDH12):c.240C>G (p.Asp80Glu)	PCDH12, RNF14 (D80E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign