"Illumina Laboratory Services, Illumina"[submitter] AND "BBS9"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360047	NM_198428.3(BBS9):c.-456G>A	BBS9, LOC129998228	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360048	NM_198428.3(BBS9):c.-447A>C	BBS9, LOC129998228	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360049	NM_198428.3(BBS9):c.-429G>C	BBS9, LOC129998228	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GBenign
Select item 360050	NM_198428.3(BBS9):c.-408T>G	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360051	NM_198428.3(BBS9):c.-407C>G	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GBenign
Select item 360052	NM_198428.3(BBS9):c.-397G>A	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360053	NM_198428.3(BBS9):c.-305T>G	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GLikely benign
Select item 360054	NM_198428.3(BBS9):c.-271G>A	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360055	NM_198428.3(BBS9):c.-259G>A	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GBenign
Select item 360056	NM_198428.3(BBS9):c.-228T>G	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 908067	NM_198428.3(BBS9):c.-206T>G	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360057	NM_198428.3(BBS9):c.-163G>C	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360058	NM_198428.3(BBS9):c.-37dup	BBS9	Duplication (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 360059	NM_198428.3(BBS9):c.-12+7T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9	GBenign
Select item 263130	NM_198428.3(BBS9):c.34A>G (p.Thr12Ala)	BBS9 (T12A)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GBenign
Select item 695552	NM_198428.3(BBS9):c.195C>T (p.Ala65=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 360060	NM_198428.3(BBS9):c.272A>T (p.Glu91Val)	BBS9 (E91V +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360061	NM_198428.3(BBS9):c.385C>T (p.His129Tyr)	BBS9 (H129Y +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 242249	NM_198428.3(BBS9):c.555C>T (p.Ala185=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 462972	NM_198428.3(BBS9):c.678A>G (p.Lys226=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GBenign/Likely benign
Select item 910916	NM_198428.3(BBS9):c.715C>T (p.Leu239=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 235610	NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)	BBS9 (L246F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 910917	NM_198428.3(BBS9):c.938A>G (p.His313Arg)	BBS9 (H191R +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 857280	NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)	BBS9 (Q203R +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
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)	not specified +3 more	GBenign/Likely benign
Select item 910918	NM_198428.3(BBS9):c.1052A>T (p.Asp351Val)	BBS9 (D351V +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 263113	NM_198428.3(BBS9):c.1110C>T (p.Asn370=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 360062	NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser)	BBS9 (N377S +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 912145	NM_198428.3(BBS9):c.1210A>G (p.Met404Val)	BBS9 (M282V +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 912146	NM_198428.3(BBS9):c.1236C>T (p.Asn412=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 698748	NM_198428.3(BBS9):c.1245C>T (p.Val415=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GBenign/Likely benign
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 1 +3 more	GBenign/Likely benign
Select item 263114	NM_198428.3(BBS9):c.1275+13G>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +3 more	GBenign
Select item 194138	NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)	BBS9 (A427V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +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)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 908131	NM_198428.3(BBS9):c.1329+5T>C	BBS9	Single nucleotide variant (intron variant)	BBS9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 263117	NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)	BBS9 (A455T +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GBenign
Select item 360063	NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile)	BBS9 (T512I +3 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 908132	NM_198428.3(BBS9):c.1537+14C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 696564	NM_198428.3(BBS9):c.1538-9G>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
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 360064	NM_198428.3(BBS9):c.1553-11T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
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 695852	NM_198428.3(BBS9):c.1606C>T (p.Leu536=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GBenign/Likely benign
Select item 910081	NM_198428.3(BBS9):c.1611A>C (p.Pro537=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 873508	NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala)	BBS9 (T427A +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 194684	NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)	BBS9 (T549I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 263121	NM_198428.3(BBS9):c.1694-6T>C	BBS9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 910082	NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)	BBS9 (R461Q +8 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related condition +3 more	GUncertain significance
Select item 632504	NM_198428.3(BBS9):c.1812del (p.Glu604fs)	BBS9 (E559fs +8 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 263122	NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)	BBS9 (I617L +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 873509	NM_198428.3(BBS9):c.1870_1872del (p.Phe624del)	BBS9 (F498del +8 more)	Deletion (inframe_deletion +1 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 910083	NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr)	BBS9 (A507T +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360065	NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu)	BBS9 (S637L +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 360066	NM_198428.3(BBS9):c.1923C>A (p.Pro641=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 910979	NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys)	BBS9 (R643C +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 910980	NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr)	BBS9 (A637T +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360067	NM_198428.3(BBS9):c.2070C>G (p.Ala690=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 360068	NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn)	BBS9 (D696N +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 910981	NM_198428.3(BBS9):c.2211G>A (p.Leu737=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 210514	NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)	BBS9 (A739V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 263123	NM_198428.3(BBS9):c.2220G>A (p.Leu740=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	not specified +2 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)	BBS9-related condition +4 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 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 +3 more	GUncertain significance
Select item 195632	NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)	BBS9 (S788F +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 360069	NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser)	BBS9 (P802S +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360070	NM_198428.3(BBS9):c.2460C>T (p.Ser820=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 522244	NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)	BBS9 (R824C +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +3 more	GBenign/Likely benign
Select item 387922	NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn)	BBS9 (D830N +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 908206	NM_198428.3(BBS9):c.2509A>G (p.Met837Val)	BBS9 (M680V +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 360071	NM_198428.3(BBS9):c.2538C>T (p.Ile846=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	BBS9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 360072	NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala)	BBS9 (T865A +9 more)	Single nucleotide variant (missense variant +2 more)	BBS9-related condition +2 more	GUncertain significance
Select item 215977	NM_198428.3(BBS9):c.2646C>A (p.Leu882=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 908207	NM_198428.3(BBS9):c.*12T>C	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360073	NM_198428.3(BBS9):c.*29A>G	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	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
Select item 910146	NM_198428.3(BBS9):c.*323A>G	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360077	NM_198428.3(BBS9):c.*336A>G	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 910147	NM_198428.3(BBS9):c.*337C>T	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360078	NM_198428.3(BBS9):c.*371G>A	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GBenign
Select item 910148	NM_198428.3(BBS9):c.*406A>G	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360079	NM_198428.3(BBS9):c.*444G>A	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GLikely benign
Select item 360080	NM_198428.3(BBS9):c.*453C>G	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GBenign
Select item 360081	NM_198428.3(BBS9):c.*549A>G	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GBenign
Select item 911037	NM_198428.3(BBS9):c.*585C>T	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360082	NM_198428.3(BBS9):c.*589G>A	BBS9	Single nucleotide variant (intron variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 911038	NM_198428.3(BBS9):c.*729C>T	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 360083	NM_198428.3(BBS9):c.778_780dup	BBS9	Duplication (3 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 911039	NM_198428.3(BBS9):c.*801G>A	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance

ClinVar

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Items: 93