"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560429	NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)	BBS12 (Q352P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 262668	NM_152618.3(BBS12):c.1062G>C (p.Val354=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +4 more	GBenign
Select item 166725	NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)	BBS12 (R386Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GBenign
Select item 262669	NM_152618.3(BBS12):c.1200G>A (p.Val400=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262670	NM_152618.3(BBS12):c.1209G>A (p.Val403=)	BBS12	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 166726	NM_152618.3(BBS12):c.1380G>C (p.Val460=)	BBS12	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 262672	NM_152618.3(BBS12):c.1398C>T (p.Gly466=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 166727	NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)	BBS12 (D467N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GBenign
Select item 166728	NM_152618.3(BBS12):c.1410C>T (p.Cys470=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 166730	NM_152618.3(BBS12):c.1872A>G (p.Gln624=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 347505	NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	BBS12 (R675*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic