"GeneDx"[submitter] AND "BBS9"[gene] - ClinVar

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Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 152084	GRCh38/hg38 7p14.3(chr7:33111046-33131474)x3	BBS9, LOC129998226 +2 more	Copy number gain	See cases	GBenign
Select item 59594	GRCh38/hg38 7p14.3(chr7:33130103-33146967)x3	BBS9	Copy number gain	See cases	GUncertain significance
Select item 1283381	NM_198428.3(BBS9):c.-11-245T>C	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246130	NM_198428.3(BBS9):c.112+89T>G	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237558	NM_198428.3(BBS9):c.112+90T>A	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249765	NM_198428.3(BBS9):c.112+106C>G	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181289	NM_198428.3(BBS9):c.112+234C>T	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262445	NM_198428.3(BBS9):c.112+352_112+354del	BBS9	Deletion (intron variant)	not provided	GBenign
Select item 1231875	NM_198428.3(BBS9):c.112+341A>G	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243215	NM_198428.3(BBS9):c.113-147T>C	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309499	NM_198428.3(BBS9):c.158G>T (p.Ser53Ile)	BBS9 (S53I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 263126	NM_198428.3(BBS9):c.263+39A>G	BBS9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1283701	NM_198428.3(BBS9):c.263+128G>T	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229828	NM_198428.3(BBS9):c.263+137C>T	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246716	NM_198428.3(BBS9):c.264-131G>A	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263129	NM_198428.3(BBS9):c.328+22G>A	BBS9	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1268424	NM_198428.3(BBS9):c.328+212T>C	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267169	NM_198428.3(BBS9):c.328+246G>C	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2048608	NM_198428.3(BBS9):c.349C>T (p.His117Tyr)	BBS9 (H117Y +2 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 841915	NM_198428.3(BBS9):c.396G>C (p.Gln132His)	BBS9 (Q10H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 387597	NM_198428.3(BBS9):c.436G>A (p.Val146Ile)	BBS9 (V146I +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder +3 more	GUncertain significance
Select item 1283492	NM_198428.3(BBS9):c.618-54T>G	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3370919	NM_198428.3(BBS9):c.658C>T (p.Gln220Ter)	BBS9 (Q129* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1260303	NM_198428.3(BBS9):c.702+121A>G	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228652	NM_198428.3(BBS9):c.702+232T>C	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277201	NM_198428.3(BBS9):c.703-139del	BBS9	Deletion (intron variant)	not provided	GBenign
Select item 235610	NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)	BBS9 (L246F +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 971614	NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)	BBS9 (N132S +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 856112	NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)	BBS9 (R187* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9 +3 more	GPathogenic/Likely pathogenic
Select item 1516208	NM_198428.3(BBS9):c.839T>C (p.Met280Thr)	BBS9 (M189T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1232197	NM_198428.3(BBS9):c.886+219A>C	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 968155	NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)	BBS9 (N219D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 263111	NM_198428.3(BBS9):c.1017-6T>C	BBS9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 263112	NM_198428.3(BBS9):c.1029A>G (p.Gly343=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +3 more	GBenign/Likely benign
Select item 2660	NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)	BBS9 (Q355* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 263114	NM_198428.3(BBS9):c.1275+13G>T	BBS9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1237819	NM_198428.3(BBS9):c.1275+88T>C	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2201996	NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)	BBS9 (T383fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 263116	NM_198428.3(BBS9):c.1284C>T (p.Thr428=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 3338773	NM_198428.3(BBS9):c.1285G>A (p.Asp429Asn)	BBS9 (D307N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1192381	NM_198428.3(BBS9):c.1330-62C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9 +1 more	GBenign
Select item 263117	NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)	BBS9 (A455T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 263118	NM_198428.3(BBS9):c.1432+47T>A	BBS9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1286332	NM_198428.3(BBS9):c.1432+328C>T	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291858	NM_198428.3(BBS9):c.1433-328C>A	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262845	NM_198428.3(BBS9):c.1537+154G>A	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221261	NM_198428.3(BBS9):c.1537+159A>T	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252158	NM_198428.3(BBS9):c.1537+204T>A	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286084	NM_198428.3(BBS9):c.1538-91A>G	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263119	NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)	BBS9 (P516T +6 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +4 more	GBenign
Select item 1182293	NM_198428.3(BBS9):c.1553-102G>A	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
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 1226105	NM_198428.3(BBS9):c.1789+250G>C	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 968232	NM_198428.3(BBS9):c.1836A>G (p.Ile612Met)	BBS9 (I490M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1314385	NM_198428.3(BBS9):c.1889A>G (p.Lys630Arg)	BBS9 (K473R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 531830	NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly)	BBS9 (D650G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 837253	NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp)	BBS9 (R553W +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1276266	NM_198428.3(BBS9):c.2116-177dup	BBS9	Duplication (intron variant)	not provided	GBenign
Select item 210514	NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)	BBS9 (A739V +8 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 1 +4 more	GBenign/Likely benign
Select item 383539	NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)	BBS9 (E753V +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 912209	NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu)	BBS9 (P601L +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1252662	NM_198428.3(BBS9):c.2299-350A>G	BBS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 216844	NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)	BBS9 (E770G +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 242248	NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln)	BBS9 (L779Q +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3370918	NM_198428.3(BBS9):c.2344A>T (p.Thr782Ser)	BBS9 (T599S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 387922	NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn)	BBS9 (D830N +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 661284	NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter)	BBS9 (E721* +12 more)	Single nucleotide variant (nonsense +3 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 360074	NM_198428.3(BBS9):c.*103T>C	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 360075	NM_198428.3(BBS9):c.*110C>T	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 360076	NM_198428.3(BBS9):c.*138A>C	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign

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Items: 73