C2936862[trait identifier] AND "Genome Diagnostics Laboratory, Amsterd - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166737	NM_176824.3(BBS7):c.1512-7A>T	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 96504	NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	BBS12 (I39T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 462965	NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)	BBS12 (N238K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 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 262670	NM_152618.3(BBS12):c.1209G>A (p.Val403=)	BBS12	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 195416	NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)	BBS12 (S429T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GBenign/Likely benign
Select item 263119	NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)	BBS9 (P516T +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign
Select item 263120	NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)	BBS9 (R521Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 194685	NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)	BBS9 (I550V +8 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related condition +4 more	GBenign/Likely benign
Select item 2662	NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)	BBS9 (K504fs +8 more)	Deletion (frameshift variant +1 more)	BBS9-related condition +4 more	GPathogenic
Select item 263124	NM_198428.3(BBS9):c.2299-20A>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 522244	NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)	BBS9 (R824C +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 263127	NM_198428.3(BBS9):c.2632+9C>A	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +4 more	GBenign/Likely benign
Select item 193457	NM_024649.5(BBS1):c.24T>C (p.Asp8=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 35752	NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)	BBS10 (D142N)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10 (C91fs)	Duplication (frameshift variant)	Inborn genetic diseases +6 more	GPathogenic
Select item 522272	NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)	BBS10 (L55P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 196570	NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)	BBS4 (K46R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 194124	NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 96206	NM_031885.5(BBS2):c.1413A>C (p.Val471=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 74 +4 more	GBenign/Likely benign
Select item 235766	NM_031885.5(BBS2):c.805-20A>G	BBS2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 22