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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 643

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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=)	BBS1, ZDHHC24	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=)	ZDHHC24, BBS1	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	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2873348	NM_024649.5(BBS1):c.1221G>A (p.Val407=)	ZDHHC24, BBS1	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=)	ZDHHC24, BBS1	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)	BBS1, ZDHHC24 (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	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2818117	NM_024649.5(BBS1):c.1389_1405dup (p.Gln469fs)	BBS1, ZDHHC24 (Q469fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2815513	NM_024649.5(BBS1):c.1017T>C (p.His339=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2806996	NM_024649.5(BBS1):c.1047G>A (p.Gly349=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2802409	NM_024649.5(BBS1):c.952-9C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2795501	NM_024649.5(BBS1):c.1008G>A (p.Leu336=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2795472	NM_024649.5(BBS1):c.1339+15G>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2787206	NM_024649.5(BBS1):c.904C>T (p.Leu302=)	ZDHHC24, BBS1	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2779286	NM_024649.5(BBS1):c.1548G>A (p.Gly516=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2775635	NM_024649.5(BBS1):c.1641C>T (p.Pro547=)	ZDHHC24, BBS1	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2772833	NM_024649.5(BBS1):c.724-8_724-6del	BBS1, ZDHHC24	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2770477	NM_024649.5(BBS1):c.1668T>C (p.Ser556=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2768166	NM_024649.5(BBS1):c.996C>G (p.Thr332=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2767183	NM_024649.5(BBS1):c.1563C>T (p.Phe521=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2765671	NM_024649.5(BBS1):c.1608+8A>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2760957	NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)	BBS1, ZDHHC24 (S375R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2759612	NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)	BBS1, ZDHHC24 (K536*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2756938	NM_024649.5(BBS1):c.1181-10A>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2755741	NM_024649.5(BBS1):c.724-17dup	BBS1, ZDHHC24	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2753159	NM_024649.5(BBS1):c.1141T>C (p.Tyr381His)	BBS1, ZDHHC24 (Y381H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2753152	NM_024649.5(BBS1):c.1181-1G>C	BBS1, ZDHHC24	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2751342	NM_024649.5(BBS1):c.724-18T>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2747397	NM_024649.5(BBS1):c.747_748del (p.Phe250fs)	BBS1, ZDHHC24 (F250fs)	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2746129	NM_024649.5(BBS1):c.724-4G>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2743696	NM_024649.5(BBS1):c.987C>T (p.Ala329=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2741604	NM_024649.5(BBS1):c.831-18G>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2738741	NM_024649.5(BBS1):c.1474-16C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign

<< First< Prev

Page of 7