Related gene-specific medical variations for Gene (Select 55212) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020049	NM_176824.3(BBS7):c.33G>A (p.Leu11=)	BBS7, LOC129993036	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2757150	NM_176824.3(BBS7):c.36+17G>A	BBS7, LOC129993036	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2749168	NM_176824.3(BBS7):c.19C>A (p.Arg7=)	BBS7, LOC129993036	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2701341	NM_176824.3(BBS7):c.36+9A>G	BBS7, LOC129993036	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2695894	NM_176824.3(BBS7):c.36+14A>T	BBS7, LOC129993036	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2680088	NM_176824.3(BBS7):c.293_294del (p.Lys98fs)	BBS7 (K98fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680087	NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)	BBS7 (I397fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680086	NM_176824.3(BBS7):c.328del (p.Ser110fs)	BBS7 (S110fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680085	NM_176824.3(BBS7):c.1489del (p.Thr497fs)	BBS7 (T497fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680084	NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)	BBS7 (G264*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680083	NM_176824.3(BBS7):c.1579dup (p.Cys527fs)	BBS7 (C527fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7	GPathogenic
Select item 2680082	NM_176824.3(BBS7):c.719-2A>G	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680081	NM_176824.3(BBS7):c.341+2T>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680080	NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)	BBS7 (Q401*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680079	NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)	BBS7 (Q358*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680077	NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)	BBS7 (Q33*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680074	NM_176824.3(BBS7):c.517dup (p.Arg173fs)	BBS7 (R173fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680073	NM_176824.3(BBS7):c.115_116del (p.Asp39fs)	BBS7 (D39fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680072	NM_176824.3(BBS7):c.1685del (p.Glu562fs)	BBS7 (E562fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680071	NM_176824.3(BBS7):c.718+1G>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680070	NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)	BBS7 (V602fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680069	NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)	BBS7 (S311*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680068	NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)	BBS7 (Y140*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680067	NM_176824.3(BBS7):c.288_289del (p.Gly97fs)	BBS7 (G97fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7	GPathogenic
Select item 2680066	NM_176824.3(BBS7):c.849+1G>A	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680065	NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)	BBS7 (C481*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GPathogenic
Select item 2680063	NM_176824.3(BBS7):c.1551del (p.Phe517fs)	BBS7 (F517fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680061	NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)	BBS7	Microsatellite (nonsense +1 more)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680060	NM_176824.3(BBS7):c.725dup (p.Leu242fs)	BBS7 (L242fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2665047	NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)	BBS7 (I37T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2585093	NM_176824.3(BBS7):c.12_35dup (p.Leu11_Gln12insHisLeuAsnArgMetAspTyrLeu)	BBS7, LOC129993036	Duplication (inframe_insertion)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2502261	NM_176824.3(BBS7):c.1940A>G (p.His647Arg)	BBS7 (H647R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2502252	NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)	BBS7 (S460L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2498314	NM_176824.3(BBS7):c.446A>C (p.Asp149Ala)	BBS7 (D149A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2498302	NM_176824.3(BBS7):c.758G>A (p.Gly253Glu)	BBS7 (G253E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2498293	NM_176824.3(BBS7):c.585dup (p.His196fs)	BBS7 (H196fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498286	NM_176824.3(BBS7):c.68_77del (p.Leu23fs)	BBS7 (L23fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2439481	NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)	BBS7 (C167Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2185476	NM_176824.3(BBS7):c.36+4A>G	BBS7, LOC129993036	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2078090	NM_176824.3(BBS7):c.36+20C>T	BBS7, LOC129993036	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2044856	NM_176824.3(BBS7):c.7C>A (p.Leu3Met)	BBS7, LOC129993036 (L3M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1450821	NM_176824.3(BBS7):c.22A>G (p.Met8Val)	BBS7, LOC129993036 (M8V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1052675	NM_176824.3(BBS7):c.22A>T (p.Met8Leu)	LOC129993036, BBS7 (M8L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 987191	NM_176824.3(BBS7):c.2023_2029del (p.Thr675fs)	BBS7 (T675fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 866307	NM_176824.3(BBS7):c.342-2A>G	BBS7	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 444638	NM_176824.3(BBS7):c.1037+29T>A	BBS7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 347490	NM_176824.3(BBS7):c.-19G>C	BBS7, LOC129993036	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347489	NM_176824.3(BBS7):c.11T>C (p.Ile4Thr)	BBS7, LOC129993036 (I4T)	Single nucleotide variant (missense variant)	BBS7-related condition +2 more	GConflicting classifications of pathogenicity
Select item 100893	NM_176824.3(BBS7):c.1135T>G (p.Phe379Val)	BBS7 (F379V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 49