"Eurofins Ntd Llc (ga)"[submitter] AND "BBS9"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197897	NM_198428.3(BBS9):c.329-7dup	BBS9	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 96648	NM_198428.3(BBS9):c.771A>G (p.Ala257=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 281885	NM_198428.3(BBS9):c.801_803del (p.Phe269del)	BBS9 (F269del +3 more)	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 281898	NM_198428.3(BBS9):c.1167del (p.Ile391fs)	BBS9 (I300fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 96647	NM_198428.3(BBS9):c.1246G>A (p.Val416Met)	BBS9 (V416M +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +4 more	GBenign/Likely benign
Select item 194138	NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)	BBS9 (A427V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 285903	NM_198428.3(BBS9):c.1308T>C (p.Leu436=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 194684	NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)	BBS9 (T549I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 194685	NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)	BBS9 (I550V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 194802	NM_198428.3(BBS9):c.1768G>A (p.Val590Ile)	BBS9 (V590I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2656	NM_198428.3(BBS9):c.1789+1G>A	BBS9	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 9 +2 more	GPathogenic
Select item 286735	NM_198428.3(BBS9):c.1918A>G (p.Ile640Val)	BBS9 (I640V +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 166740	NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)	BBS9 (L665F +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 194995	NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)	BBS9 (T702N +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497541	NM_198428.3(BBS9):c.2214C>T (p.Ile738=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195632	NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)	BBS9 (S788F +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 195633	NM_198428.3(BBS9):c.2403A>G (p.Ile801Met)	BBS9 (I801M +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 197393	Single allele	BBS9	Insertion	not provided	GUncertain significance