Related gene-specific medical variations for Gene (Select 79738) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360084	NM_024685.4(BBS10):c.152G>A (p.Gly51Glu)	BBS10 (G51E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244279	NC_000012.11:g.(?_76739593)_(76742138_?)del	BBS10	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3242542	NM_024685.3(BBS10):c.-151T>C	BBS10	Single nucleotide variant	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3240871	NM_024685.4(BBS10):c.1890_1905del (p.Ser630fs)	BBS10 (S630fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240870	NM_024685.4(BBS10):c.192dup (p.Ala65fs)	BBS10 (A65fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240869	NM_024685.4(BBS10):c.2026_2029del (p.Thr676fs)	BBS10 (T676fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240868	NM_024685.4(BBS10):c.258_261del (p.Phe86fs)	BBS10 (F86fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240867	NM_024685.4(BBS10):c.640_653delinsA (p.Val214fs)	BBS10 (V214fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240866	NM_024685.4(BBS10):c.865del (p.Trp289fs)	BBS10 (W289fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240865	NM_024685.4(BBS10):c.103C>T (p.Gln35Ter)	BBS10 (Q35*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240864	NM_024685.4(BBS10):c.1457_1458del (p.Tyr486fs)	BBS10 (Y486fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679987	NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)	BBS10	Microsatellite (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679986	NM_024685.4(BBS10):c.641T>A (p.Val214Glu)	BBS10 (V214E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679985	NM_024685.4(BBS10):c.461del (p.Leu154fs)	BBS10 (L154fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679983	NM_024685.4(BBS10):c.2024dup (p.Thr676fs)	BBS10 (T676fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679981	NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)	BBS10 (Q287*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679979	NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)	BBS10 (T519fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679977	NM_024685.4(BBS10):c.171_174dup (p.His59fs)	BBS10 (H59fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679976	NM_024685.4(BBS10):c.1860dup (p.Cys621fs)	BBS10 (C621fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679975	NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)	BBS10 (A8fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679974	NM_024685.4(BBS10):c.488_489del (p.Arg163fs)	BBS10 (R163fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679972	NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)	BBS10 (T510fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679971	NM_024685.4(BBS10):c.1606del (p.Tyr536fs)	BBS10 (Y536fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679970	NM_024685.4(BBS10):c.1076del (p.Gln359fs)	BBS10 (Q359fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679969	NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)	BBS10 (F86fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679968	NM_024685.4(BBS10):c.844_845del (p.Gln282fs)	BBS10 (Q282fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679966	NM_024685.4(BBS10):c.807dup (p.Thr270fs)	BBS10 (T270fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679965	NM_024685.4(BBS10):c.1676del (p.Tyr559fs)	BBS10 (Y559fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679964	NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)	BBS10 (G552fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679963	NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)	BBS10 (E162*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2502256	NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)	BBS10 (I407T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 2500151	NM_024685.4(BBS10):c.733T>G (p.Phe245Val)	BBS10 (F245V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2498318	NM_024685.4(BBS10):c.1527dup (p.Thr510fs)	BBS10 (T510fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498305	NM_024685.4(BBS10):c.1702del (p.Thr568fs)	BBS10 (T568fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498297	NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)	BBS10 (Y448fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498287	NM_024685.4(BBS10):c.1227del (p.Gln409fs)	BBS10 (Q409fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2439474	NM_024685.4(BBS10):c.930A>G (p.Ile310Met)	BBS10 (I310M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 2436621	NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)	BBS10 (L58fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 990679	NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln)	BBS10 (P394Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 990677	NM_024685.4(BBS10):c.1418T>A (p.Val473Asp)	BBS10 (V473D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 990676	NM_024685.4(BBS10):c.1530A>G (p.Thr510=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 990673	NM_024685.4(BBS10):c.1865A>G (p.His622Arg)	BBS10 (H622R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 990672	NM_024685.4(BBS10):c.2157A>G (p.Ser719=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 813019	NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)	BBS10 (L193S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GPathogenic
Select item 591716	NM_024685.4(BBS10):c.290T>G (p.Leu97Arg)	BBS10 (L97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585180	NM_024685.4(BBS10):c.724del (p.Gln242fs)	BBS10 (Q242fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 585179	NM_024685.4(BBS10):c.559_561del (p.His187del)	BBS10 (H187del)	Deletion (inframe_deletion)	Bardet-Biedl syndrome	GPathogenic
Select item 585178	NM_024685.4(BBS10):c.198G>T (p.Arg66Ser)	BBS10 (R66S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GPathogenic
Select item 68063	NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)	BBS10 (G401E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GLikely pathogenic

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Links from Gene

Items: 49