ClinVar for Gene (Select 79738) - ClinVar - NCBI

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	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 3358788	NM_024685.4(BBS10):c.1271T>C (p.Leu424Ser)	BBS10 (L424S)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3357241	NM_024685.4(BBS10):c.172C>A (p.Leu58Ile)	BBS10 (L58I)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3356909	NM_024685.4(BBS10):c.331G>A (p.Glu111Lys)	BBS10 (E111K)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3356746	NM_024685.4(BBS10):c.669_674dup (p.Val225_Thr226insGlyVal)	BBS10	Duplication (inframe_insertion)	BBS10-related disorder	GLikely pathogenic
Select item 3356645	NM_024685.4(BBS10):c.1895T>C (p.Ile632Thr)	BBS10 (I632T)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3356494	NM_024685.4(BBS10):c.-5C>T	BBS10	Single nucleotide variant (5 prime UTR variant)	BBS10-related disorder	GLikely benign
Select item 3355351	NM_024685.4(BBS10):c.858T>G (p.Ser286=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder	GLikely benign
Select item 3355335	NM_024685.4(BBS10):c.187C>T (p.Pro63Ser)	BBS10 (P63S)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3355261	NM_024685.4(BBS10):c.544G>A (p.Val182Met)	BBS10 (V182M)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3355057	NM_024685.4(BBS10):c.1601C>T (p.Thr534Ile)	BBS10 (T534I)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3355033	NM_024685.4(BBS10):c.1126C>T (p.Leu376Phe)	BBS10 (L376F)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3354901	NM_024685.4(BBS10):c.627T>C (p.Gly209=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder	GLikely benign
Select item 3353623	NM_024685.4(BBS10):c.1261C>T (p.Leu421Phe)	BBS10 (L421F)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3353602	NM_024685.4(BBS10):c.282T>C (p.Leu94=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder	GLikely benign
Select item 3353084	NM_024685.4(BBS10):c.1605T>C (p.Asp535=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder	GLikely benign
Select item 3352185	NM_024685.4(BBS10):c.-6C>T	BBS10	Single nucleotide variant (5 prime UTR variant)	BBS10-related disorder	GLikely benign
Select item 3351966	NM_024685.4(BBS10):c.952T>G (p.Leu318Val)	BBS10 (L318V)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3351235	NM_024685.4(BBS10):c.1310A>G (p.Asn437Ser)	BBS10 (N437S)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3351208	NM_024685.4(BBS10):c.1717A>G (p.Met573Val)	BBS10 (M573V)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3349736	NM_024685.4(BBS10):c.1570_1581del (p.Thr524_Ser527del)	BBS10	Deletion (inframe_deletion)	BBS10-related disorder	GUncertain significance
Select item 3349584	NM_024685.4(BBS10):c.442T>G (p.Tyr148Asp)	BBS10 (Y148D)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3349327	NM_024685.4(BBS10):c.1364A>T (p.Tyr455Phe)	BBS10 (Y455F)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3349266	NM_024685.4(BBS10):c.1168T>C (p.Cys390Arg)	BBS10 (C390R)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3349246	NM_024685.4(BBS10):c.981C>T (p.Gly327=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder	GLikely benign
Select item 3349080	NM_024685.4(BBS10):c.263T>A (p.Ile88Asn)	BBS10 (I88N)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3348911	NM_024685.4(BBS10):c.*8del	BBS10	Deletion (3 prime UTR variant)	BBS10-related disorder	GLikely benign
Select item 3348815	NM_024685.4(BBS10):c.944A>G (p.Gln315Arg)	BBS10 (Q315R)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3348657	NM_024685.4(BBS10):c.846G>A (p.Gln282=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder	GLikely benign
Select item 3348622	NM_024685.4(BBS10):c.26G>T (p.Gly9Val)	BBS10 (G9V)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3348512	NM_024685.4(BBS10):c.1464A>T (p.Lys488Asn)	BBS10 (K488N)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3348331	NM_024685.4(BBS10):c.1234G>A (p.Asp412Asn)	BBS10 (D412N)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3348200	NM_024685.4(BBS10):c.1787C>T (p.Ala596Val)	BBS10 (A596V)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3348085	NM_024685.4(BBS10):c.1804G>A (p.Val602Ile)	BBS10 (V602I)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3347656	NM_024685.4(BBS10):c.-8G>T	BBS10	Single nucleotide variant (5 prime UTR variant)	BBS10-related disorder	GLikely benign
Select item 3346948	NM_024685.4(BBS10):c.735T>G (p.Phe245Leu)	BBS10 (F245L)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3346403	NM_024685.4(BBS10):c.829C>G (p.Leu277Val)	BBS10 (L277V)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3345892	NM_024685.4(BBS10):c.893T>A (p.Met298Lys)	BBS10 (M298K)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3345630	NM_024685.4(BBS10):c.197+3A>G	BBS10	Single nucleotide variant (intron variant)	BBS10-related disorder	GUncertain significance
Select item 3345544	NM_024685.4(BBS10):c.1302A>G (p.Thr434=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder	GLikely benign
Select item 3345406	NM_024685.4(BBS10):c.275A>C (p.His92Pro)	BBS10 (H92P)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3344828	NM_024685.4(BBS10):c.1859A>C (p.Lys620Thr)	BBS10 (K620T)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3344525	NM_024685.4(BBS10):c.2108T>A (p.Met703Lys)	BBS10 (M703K)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3342287	NM_024685.4(BBS10):c.1183C>G (p.His395Asp)	BBS10 (H395D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3342286	NM_024685.4(BBS10):c.703A>T (p.Ile235Phe)	BBS10 (I235F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3339171	NM_024685.4(BBS10):c.431T>C (p.Ile144Thr)	BBS10 (I144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336435	NM_024685.4(BBS10):c.686C>G (p.Pro229Arg)	BBS10 (P229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336318	NM_024685.4(BBS10):c.146G>T (p.Arg49Leu)	BBS10 (R49L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3260532	NM_024685.4(BBS10):c.1883T>C (p.Met628Thr)	BBS10 (M628T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3133153	NM_024685.4(BBS10):c.892A>G (p.Met298Val)	BBS10 (M298V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133151	NM_024685.4(BBS10):c.298A>G (p.Ile100Val)	BBS10 (I100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133150	NM_024685.4(BBS10):c.143G>C (p.Ser48Thr)	BBS10 (S48T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3031877	NM_024685.4(BBS10):c.1142A>G (p.Tyr381Cys)	BBS10 (Y381C)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3021634	NM_024685.4(BBS10):c.1005A>G (p.Ser335=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3016093	NM_024685.4(BBS10):c.171G>C (p.Ala57=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015827	NM_024685.4(BBS10):c.725_737del (p.Gln242fs)	BBS10 (Q242fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3015365	NM_024685.4(BBS10):c.1399del (p.Arg467fs)	BBS10 (R467fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3002102	NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)	BBS10 (S680L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 3001914	NM_024685.4(BBS10):c.2062C>T (p.Leu688=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3000653	NM_024685.4(BBS10):c.1173A>G (p.Ala391=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2998391	NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)	BBS10 (E556G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2985410	NM_024685.4(BBS10):c.1582T>C (p.Leu528=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2981404	NM_024685.4(BBS10):c.1912T>C (p.Leu638=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2979793	NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)	BBS10 (L562V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2976814	NM_024685.4(BBS10):c.315G>A (p.Lys105=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2969701	NM_024685.4(BBS10):c.1618T>C (p.Leu540=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2966633	NM_024685.4(BBS10):c.1623C>T (p.Leu541=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2955555	NM_024685.4(BBS10):c.165G>A (p.Leu55=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2954921	NM_024685.4(BBS10):c.135G>C (p.Val45=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2954595	NM_024685.4(BBS10):c.1041T>G (p.Gly347=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2918912	NM_024685.4(BBS10):c.969A>C (p.Ala323=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2914305	NM_024685.4(BBS10):c.912G>A (p.Gln304=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2913894	NM_024685.4(BBS10):c.933T>C (p.Ser311=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2910031	NM_024685.4(BBS10):c.1308C>G (p.Thr436=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2905771	NM_024685.4(BBS10):c.894_897dup (p.His300fs)	BBS10 (H300fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2902593	NM_024685.4(BBS10):c.1269A>G (p.Gln423=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2902400	NM_024685.4(BBS10):c.197+20T>A	BBS10	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2897972	NM_024685.4(BBS10):c.816A>G (p.Gly272=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2887353	NM_024685.4(BBS10):c.663G>A (p.Leu221=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2881985	NM_024685.4(BBS10):c.1698T>C (p.Asn566=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2874829	NM_024685.4(BBS10):c.2061A>G (p.Leu687=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2868773	NM_024685.4(BBS10):c.1548A>C (p.Thr516=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2868626	NM_024685.4(BBS10):c.162C>T (p.Leu54=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2866598	NM_024685.4(BBS10):c.264C>A (p.Ile88=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2864720	NM_024685.4(BBS10):c.496dup (p.Cys166fs)	BBS10 (C166fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2864451	NM_024685.4(BBS10):c.483dup (p.Glu162fs)	BBS10 (E162fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2864401	NM_024685.4(BBS10):c.1828T>C (p.Leu610=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2864389	NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)	BBS10 (S231*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic

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