Related gene-specific medical variations for Gene (Select 27241) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362639	NM_198428.3(BBS9):c.1183_1184del (p.Asp394_Val395insTer)	BBS9	Deletion (nonsense +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 3362638	NM_198428.3(BBS9):c.1189_1190insTCTTT (p.Lys397fs)	BBS9 (K275fs +3 more)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 3362501	NM_198428.3(BBS9):c.1486_1492del (p.Thr496fs)	BBS9 (T374fs +3 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3245740	NC_000007.13:g.(?_33185923)_(33193039_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3245739	NC_000007.13:g.(?_33388660)_(33397627_?)dup	BBS9	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3245738	NC_000007.13:g.(?_33296828)_(33297042_?)dup	BBS9	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3245737	NC_000007.13:g.(?_33423258)_(33427776_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245736	NC_000007.13:g.(?_33384173)_(33390955_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245735	NC_000007.13:g.(?_33376033)_(33388802_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245733	NC_000007.13:g.(?_33296828)_(33297042_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245732	NC_000007.13:g.(?_33185865)_(33185996_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245731	NC_000007.13:g.(?_33185865)_(33644838_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3242546	NM_198428.3(BBS9):c.677_678dup (p.Leu227fs)	BBS9 (L105fs +3 more)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240911	NM_198428.3(BBS9):c.1790-2A>T	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240910	NM_198428.3(BBS9):c.703-1G>A	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240909	NM_198428.3(BBS9):c.1705C>T (p.Gln569Ter)	BBS9 (Q412* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240908	NM_198428.3(BBS9):c.1720C>T (p.Gln574Ter)	BBS9 (Q417* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240907	NM_198428.3(BBS9):c.544_545insTC (p.Gly182fs)	BBS9 (G137fs +3 more)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240906	NM_198428.3(BBS9):c.1903del (p.Ser635fs)	BBS9 (S478fs +8 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240905	NM_198428.3(BBS9):c.302del (p.Arg101fs)	BBS9 (R101fs +2 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240904	NM_198428.3(BBS9):c.2349C>A (p.Cys783Ter)	BBS9 (C600* +9 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 3236397	NM_198428.3(BBS9):c.2014C>T (p.Gln672Ter)	BBS9 (Q515* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 3064084	NM_198428.3(BBS9):c.1553-1G>A	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3062965	GRCh37/hg19 7p14.3(chr7:33293316-33347833)x1	BBS9	Copy number loss	not specified	GUncertain significance
Select item 2920611	NM_198428.3(BBS9):c.2297T>A (p.Leu766Ter)	BBS9 (L640* +8 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 2680107	NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)	BBS9 (E143* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680106	NM_198428.3(BBS9):c.1275+1G>A	BBS9	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680105	NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)	BBS9 (Q121* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680104	NM_198428.3(BBS9):c.1963-1G>T	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680103	NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)	BBS9 (E21* +1 more)	Single nucleotide variant (nonsense +3 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680102	NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)	BBS9 (Q486* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680100	NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)	BBS9	Deletion (nonsense +4 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680099	NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)	BBS9 (Y466* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680098	NM_198428.3(BBS9):c.360del (p.Gln120fs)	BBS9 (Q120fs +2 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680097	NM_198428.3(BBS9):c.1694-2A>G	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680096	NM_198428.3(BBS9):c.1432+2T>G	BBS9	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680095	NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)	BBS9 (R430fs +8 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680094	NM_198428.3(BBS9):c.2116-2A>T	BBS9	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680093	NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)	BBS9 (E497* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680092	NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)	BBS9 (S623fs +9 more)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680090	NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)	BBS9 (S276* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680089	NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)	BBS9	Insertion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2502244	NM_198428.3(BBS9):c.794A>G (p.Glu265Gly)	BBS9 (E143G +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 2502217	NM_198428.3(BBS9):c.443-37371A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 2498312	NM_198428.3(BBS9):c.621_702+3del	BBS9	Deletion (splice donor variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498309	NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)	BBS9 (Q277* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2498295	NM_198428.3(BBS9):c.557A>G (p.Tyr186Cys)	BBS9 (Y141C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2439482	NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg)	BBS9 (C660R +9 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 1809078	GRCh37/hg19 7p14.3(chr7:33327326-33587544)x1	BBS9	Copy number loss	not provided	GUncertain significance
Select item 1803917	NM_198428.2:c.2115+21712_2521+234del	BBS9	Deletion	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 1803871	NM_198428.3(BBS9):c.2521+951G>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 1803870	NM_198428.3(BBS9):c.1790-1091A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 1801401	NM_198428.3(BBS9):c.1017-27152_1017-27053del	BBS9	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1527347	GRCh37/hg19 7p14.3(chr7:33224145-33642387)	BBS9	Copy number loss	not specified	GUncertain significance
Select item 1344653	NM_198428.3(BBS9):c.542C>G (p.Pro181Arg)	BBS9 (P136R +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 1341009	GRCh37/hg19 7p14.3(chr7:33586413-33813723)x3	BBS9	Copy number gain	not provided	GUncertain significance
Select item 1340042	GRCh37/hg19 7p14.3(chr7:33304341-33457501)x1	BBS9	Copy number loss	not provided	GUncertain significance
Select item 983433	NM_198428.3(BBS9):c.2153del (p.Gly718fs)	BBS9 (G561fs +8 more)	Deletion (frameshift variant +2 more)	Intellectual disability	GLikely pathogenic
Select item 979763	GRCh37/hg19 7p14.3(chr7:33450970-33586514)x1	BBS9	Copy number loss	not provided	GUncertain significance
Select item 979762	GRCh37/hg19 7p14.3(chr7:33251174-33415723)x1	BBS9	Copy number loss	not provided	GUncertain significance
Select item 979760	GRCh37/hg19 7p14.3(chr7:33467039-33531339)x1	BBS9	Copy number loss	not provided	GLikely benign
Select item 688955	GRCh37/hg19 7p14.3(chr7:33191099-33257303)x1	BBS9	Copy number loss	not provided	GPathogenic
Select item 688806	GRCh37/hg19 7p14.3(chr7:33431363-33552840)x1	BBS9	Copy number loss	not provided	GPathogenic
Select item 635935	Single allele	BBS9	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 591511	NM_198428.3(BBS9):c.558C>G (p.Tyr186Ter)	BBS9 (Y186* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 585196	NM_198428.3(BBS9):c.727G>A (p.Glu243Lys)	BBS9 (E243K +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 585194	NM_198428.3(BBS9):c.113-2A>G	BBS9	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 563322	GRCh37/hg19 7p14.3(chr7:33489068-33722022)x3	BBS9	Copy number gain	not provided	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 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 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 263131	NM_198428.3(BBS9):c.702+33A>G	BBS9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 263115	NM_198428.3(BBS9):c.1275+28G>T	BBS9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 221714	GRCh38/hg38 7p14.3(chr7:33600258-33690764)x1	BBS9	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 59594	GRCh38/hg38 7p14.3(chr7:33130103-33146967)x3	BBS9	Copy number gain	See cases	GUncertain significance

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Items: 75