Related gene-specific medical variations for Gene (Select 582) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358634	NM_024649.5(BBS1):c.1580T>C (p.Leu527Pro)	BBS1, ZDHHC24 (L527P)	Single nucleotide variant (missense variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3358515	NM_024649.5(BBS1):c.1110+6C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	BBS1-related disorder	GLikely benign
Select item 3358399	NM_024649.5(BBS1):c.1148G>A (p.Arg383Gln)	BBS1, ZDHHC24 (R383Q)	Single nucleotide variant (missense variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3357858	NM_024649.5(BBS1):c.1303_1313del (p.Val435fs)	BBS1, ZDHHC24 (V435fs)	Deletion (frameshift variant +1 more)	BBS1-related disorder	GLikely pathogenic
Select item 3356631	NM_024649.5(BBS1):c.800G>T (p.Cys267Phe)	BBS1, ZDHHC24 (C267F)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3356611	NM_024649.5(BBS1):c.793G>T (p.Ala265Ser)	BBS1, ZDHHC24 (A265S)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3356253	NM_024649.5(BBS1):c.951+48C>T	ZDHHC24, BBS1	Single nucleotide variant (intron variant)	BBS1-related disorder	GLikely benign
Select item 3356242	NM_024649.5(BBS1):c.952-9C>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	BBS1-related disorder	GUncertain significance
Select item 3354255	NM_024649.5(BBS1):c.1167C>T (p.Ile389=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	BBS1-related disorder	GLikely benign
Select item 3354122	NM_024649.5(BBS1):c.*5T>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GLikely benign
Select item 3353633	NM_024649.5(BBS1):c.*9C>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GLikely benign
Select item 3352997	NM_024649.5(BBS1):c.795_804del (p.Ala266fs)	BBS1, ZDHHC24 (A266fs)	Deletion (3 prime UTR variant +1 more)	BBS1-related disorder	GLikely pathogenic
Select item 3352418	NM_024649.5(BBS1):c.784C>T (p.Arg262Trp)	BBS1, ZDHHC24 (R262W)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3351040	NM_024649.5(BBS1):c.1110+334G>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	BBS1-related disorder	GLikely benign
Select item 3350776	NM_024649.5(BBS1):c.1110+333G>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	BBS1-related disorder	GLikely benign
Select item 3350483	NM_024649.5(BBS1):c.775G>T (p.Val259Phe)	BBS1, ZDHHC24 (V259F)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3350419	NM_024649.5(BBS1):c.806A>G (p.Asn269Ser)	BBS1, ZDHHC24 (N269S)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3349981	NM_024649.5(BBS1):c.1084G>T (p.Ala362Ser)	BBS1, ZDHHC24 (A362S)	Single nucleotide variant (missense variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3349943	NM_024649.5(BBS1):c.1248dup (p.Pro417fs)	BBS1, ZDHHC24 (P417fs)	Duplication (frameshift variant +1 more)	BBS1-related disorder	GPathogenic
Select item 3349173	NM_024649.5(BBS1):c.1019C>T (p.Ser340Phe)	BBS1, ZDHHC24 (S340F)	Single nucleotide variant (missense variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3347539	NM_024649.5(BBS1):c.733C>G (p.Pro245Ala)	BBS1, ZDHHC24 (P245A)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3347362	NM_024649.5(BBS1):c.1761C>G (p.Ser587Arg)	BBS1, ZDHHC24 (S587R)	Single nucleotide variant (missense variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3346593	NM_024649.5(BBS1):c.1576G>A (p.Ala526Thr)	BBS1, ZDHHC24 (A526T)	Single nucleotide variant (missense variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3345109	NM_024649.5(BBS1):c.896A>C (p.His299Pro)	BBS1, ZDHHC24 (H299P)	Single nucleotide variant (missense variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3344441	NM_024649.5(BBS1):c.816C>G (p.Ile272Met)	BBS1, ZDHHC24 (I272M)	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3344093	NM_024649.5(BBS1):c.1295_1309del (p.Arg432_Asp436del)	BBS1, ZDHHC24	Deletion (intron variant)	BBS1-related disorder	GUncertain significance
Select item 3260529	NM_024649.5(BBS1):c.725T>A (p.Met242Lys)	BBS1, ZDHHC24 (M242K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257532	NM_024649.5(BBS1):c.1488C>T (p.Gly496=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3248609	NM_024649.5(BBS1):c.159+23G>A	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3248569	NM_024649.5(BBS1):c.1110+30_1110+33del	BBS1, ZDHHC24	Microsatellite (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3244597	NC_000011.9:g.(?_66297270)_(66299508_?)del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3244595	NC_000011.9:g.(?_66293574)_(66294298_?)del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3244594	NC_000011.9:g.(?_66290907)_(66299508_?)del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3244593	NC_000011.9:g.(?_66278131)_(66291682_?)del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3240863	NM_024649.5(BBS1):c.795_804dup (p.Asn269fs)	BBS1, ZDHHC24 (N269fs)	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3240862	NM_024649.5(BBS1):c.106_107del (p.Thr36fs)	BBS1 (T36fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3240861	NM_024649.5(BBS1):c.69G>A (p.Trp23Ter)	BBS1 (W23*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3133148	NM_024649.5(BBS1):c.790G>C (p.Ala264Pro)	BBS1, ZDHHC24 (A264P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133144	NM_024649.5(BBS1):c.1544T>C (p.Leu515Pro)	BBS1, ZDHHC24 (L515P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058547	NM_024649.5(BBS1):c.1606A>G (p.Lys536Glu)	BBS1, ZDHHC24 (K536E)	Single nucleotide variant (missense variant +1 more)	BBS1-related disorder	GUncertain significance
Select item 3053641	NM_024649.5(BBS1):c.951+65G>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	BBS1-related disorder	GLikely benign
Select item 3049742	NM_024649.5(BBS1):c.1110+323G>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	BBS1-related disorder	GBenign
Select item 3029433	NM_024649.5(BBS1):c.1110+4A>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	BBS1-related disorder	GLikely benign
Select item 3028237	NM_024649.5(BBS1):c.834C>G (p.Asp278Glu)	BBS1, ZDHHC24 (D278E)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3018534	NM_024649.5(BBS1):c.780G>A (p.Glu260=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3015153	NM_024649.5(BBS1):c.831-19T>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3012677	NM_024649.5(BBS1):c.1110+14C>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3012430	NM_024649.5(BBS1):c.1696-4A>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2999621	NM_024649.5(BBS1):c.1180+20G>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2995910	NM_024649.5(BBS1):c.831-13_831-11del	BBS1, ZDHHC24	Microsatellite (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2989290	NM_024649.5(BBS1):c.1050G>A (p.Leu350=)	ZDHHC24, BBS1	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2988436	NM_024649.5(BBS1):c.1149G>A (p.Arg383=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2982601	NM_024649.5(BBS1):c.1122C>G (p.Thr374=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2977708	NM_024649.5(BBS1):c.724-15G>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2970361	NM_024649.5(BBS1):c.1110+12C>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2967957	NM_024649.5(BBS1):c.1761C>T (p.Ser587=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2965605	NM_024649.5(BBS1):c.1340-6C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2955486	NM_024649.5(BBS1):c.952-15G>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2955300	NM_024649.5(BBS1):c.1758G>T (p.Gly586=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2917135	NM_024649.5(BBS1):c.952-18C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2915138	NM_024649.5(BBS1):c.1180+17C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2915113	NM_024649.5(BBS1):c.724-13T>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2915112	NM_024649.5(BBS1):c.724-17G>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2913770	NM_024649.5(BBS1):c.1419C>T (p.Ser473=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2911372	NM_024649.5(BBS1):c.1473+20C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2908117	NM_024649.5(BBS1):c.1340-13C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2903984	NM_024649.5(BBS1):c.1251C>T (p.Pro417=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2903045	NM_024649.5(BBS1):c.1111-4A>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2902355	NM_024649.5(BBS1):c.1560C>T (p.Cys520=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2900133	NM_024649.5(BBS1):c.1696-13C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2893663	NM_024649.5(BBS1):c.830+9A>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2890715	NM_024649.5(BBS1):c.724-18T>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2889996	NM_024649.5(BBS1):c.1181-17A>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2887059	NM_024649.5(BBS1):c.952-12G>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2886077	NM_024649.5(BBS1):c.1111-17_1111-16del	BBS1, ZDHHC24	Microsatellite (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2885564	NM_024649.5(BBS1):c.751C>T (p.Leu251=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2883256	NM_024649.5(BBS1):c.831-18G>A	ZDHHC24, BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2873348	NM_024649.5(BBS1):c.1221G>A (p.Val407=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2867234	NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)	BBS1, ZDHHC24 (E484*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2862708	NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)	BBS1, ZDHHC24 (N269fs)	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2857389	NM_024649.5(BBS1):c.1318C>A (p.Arg440=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2856889	NM_024649.5(BBS1):c.1646del (p.Glu549fs)	BBS1, ZDHHC24 (E549fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2850561	NM_024649.5(BBS1):c.729C>T (p.Ser243=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2850479	NM_024649.5(BBS1):c.1609-14G>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2849403	NM_024649.5(BBS1):c.1432dup (p.Leu478fs)	BBS1, ZDHHC24 (L478fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2848568	NM_024649.5(BBS1):c.952-16G>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2848397	NM_024649.5(BBS1):c.1284C>T (p.Pro428=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2843754	NM_024649.5(BBS1):c.1014G>A (p.Gln338=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2842509	NM_024649.5(BBS1):c.1696-6C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2842152	NM_024649.5(BBS1):c.1340-5C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2841764	NM_024649.5(BBS1):c.1696-14C>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2841534	NM_024649.5(BBS1):c.1609-10C>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2837896	NM_024649.5(BBS1):c.1383dup (p.Arg462fs)	BBS1, ZDHHC24 (R462fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2837479	NM_024649.5(BBS1):c.768G>C (p.Gln256His)	BBS1, ZDHHC24 (Q256H)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2836346	NM_024649.5(BBS1):c.796_805dup (p.Asn269fs)	ZDHHC24, BBS1 (N269fs)	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2827011	NM_024649.5(BBS1):c.1212T>A (p.Arg404=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2823178	NM_024649.5(BBS1):c.1605C>T (p.Phe535=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2822028	NM_024649.5(BBS1):c.1110+10A>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2821871	NM_024649.5(BBS1):c.1474-10C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2819380	NM_024649.5(BBS1):c.1339+20C>A	ZDHHC24, BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign

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