ClinVar for Gene (Select 129880) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133168	NM_152384.3(BBS5):c.736T>G (p.Ser246Ala)	BBS5 (S246A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3038952	NM_152384.3(BBS5):c.619-5T>G	BBS5	Single nucleotide variant (intron variant)	BBS5-related condition	GUncertain significance
Select item 3038650	NM_152384.3(BBS5):c.619-35A>C	BBS5	Single nucleotide variant (intron variant)	BBS5-related condition	GLikely benign
Select item 3023492	NM_152384.3(BBS5):c.444del (p.Asn149fs)	BBS5 (N149fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3019841	NM_152384.3(BBS5):c.171T>C (p.Ile57=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3019767	NM_152384.3(BBS5):c.386+10T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3018693	NM_152384.3(BBS5):c.681+10T>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3014382	NM_152384.3(BBS5):c.1A>T (p.Met1Leu)	BBS5, LOC129935068 (M1L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 3012610	NM_152384.3(BBS5):c.816+15A>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3004989	NM_152384.3(BBS5):c.59+13del	BBS5, LOC129935068	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3003967	NM_152384.3(BBS5):c.816+17G>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2999351	NM_152384.3(BBS5):c.969A>C (p.Ala323=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2998030	NM_152384.3(BBS5):c.60-9T>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2995697	NM_152384.3(BBS5):c.618+11dup	BBS5	Duplication (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2993407	NM_152384.3(BBS5):c.682-16A>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2985532	NM_152384.3(BBS5):c.345T>G (p.Pro115=)	BBS5	Single nucleotide variant (synonymous variant)	BBS5-related condition +1 more	GLikely benign
Select item 2981490	NM_152384.3(BBS5):c.855A>G (p.Gln285=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2976691	NM_152384.3(BBS5):c.681+19T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2973198	NM_152384.3(BBS5):c.255C>T (p.Asn85=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2966991	NM_152384.3(BBS5):c.259-10_259-6dup	BBS5	Duplication (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2966987	NM_152384.3(BBS5):c.828C>T (p.Leu276=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2965581	NM_152384.3(BBS5):c.60-17C>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2962983	NM_152384.3(BBS5):c.682-9C>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2957264	NM_152384.3(BBS5):c.399T>C (p.Thr133=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2954764	NM_152384.3(BBS5):c.681+8C>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2954695	NM_152384.3(BBS5):c.258+19A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2918496	NM_152384.3(BBS5):c.59+19C>A	BBS5, LOC129935068	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2918099	NM_152384.3(BBS5):c.925-19C>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2917758	NM_152384.3(BBS5):c.618+10T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2916877	NM_152384.3(BBS5):c.54C>G (p.Ser18=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2914246	NM_152384.3(BBS5):c.477T>C (p.His159=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2911484	NM_152384.3(BBS5):c.59+13G>T	BBS5, LOC129935068	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2911103	NM_152384.3(BBS5):c.523-5del	BBS5	Deletion (intron variant)	Bardet-Biedl syndrome	GBenign
Select item 2908544	NM_152384.3(BBS5):c.258+14A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2902817	NM_152384.3(BBS5):c.424T>C (p.Leu142=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2887167	NM_152384.3(BBS5):c.906T>C (p.Tyr302=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2886081	NM_152384.3(BBS5):c.143-13TG[2]	BBS5	Microsatellite (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2884185	NM_152384.3(BBS5):c.60-2A>C	BBS5	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2883010	NM_152384.3(BBS5):c.54dup (p.Ala19fs)	BBS5, LOC129935068 (A19fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2882794	NM_152384.3(BBS5):c.45C>T (p.Phe15=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2881702	NM_152384.3(BBS5):c.59+12A>G	BBS5, LOC129935068	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2881366	NM_152384.3(BBS5):c.789T>C (p.Phe263=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2872966	NM_152384.3(BBS5):c.681+1G>T	BBS5	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2871932	NM_152384.3(BBS5):c.60-7A>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2870882	NM_152384.3(BBS5):c.924+11T>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2870667	NM_152384.3(BBS5):c.618+12C>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2866613	NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)	BBS5 (R186*)	Indel (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2863129	NM_152384.3(BBS5):c.120C>A (p.Thr40=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2862099	NM_152384.3(BBS5):c.209-17T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2860781	NM_152384.3(BBS5):c.924+16T>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2858287	NM_152384.3(BBS5):c.108C>A (p.Ser36=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2857315	NM_152384.3(BBS5):c.189A>T (p.Ala63=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2857172	NM_152384.3(BBS5):c.386+13T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2846113	NM_152384.3(BBS5):c.522+8G>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2845605	NM_152384.3(BBS5):c.386+11A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2843988	NM_152384.3(BBS5):c.143-19T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2839963	NM_152384.3(BBS5):c.387-14del	BBS5	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2836809	NM_152384.3(BBS5):c.259-8C>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2833941	NM_152384.3(BBS5):c.246G>A (p.Arg82=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2833109	NM_152384.3(BBS5):c.135A>G (p.Gly45=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2832967	NM_152384.3(BBS5):c.901-11T>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2830735	NM_152384.3(BBS5):c.18G>T (p.Ala6=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2829492	NM_152384.3(BBS5):c.576T>C (p.Asn192=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2807431	NM_152384.3(BBS5):c.816+7T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2796173	NM_152384.3(BBS5):c.6G>A (p.Ser2=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2793507	NM_152384.3(BBS5):c.562dup (p.Val188fs)	BBS5 (V188fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2792118	NM_152384.3(BBS5):c.210T>C (p.Ser70=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2791846	NM_152384.3(BBS5):c.387-4A>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2791659	NM_152384.3(BBS5):c.342T>G (p.Val114=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2785663	NM_152384.3(BBS5):c.960G>A (p.Leu320=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2783980	NM_152384.3(BBS5):c.54C>A (p.Ser18=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2781702	NM_152384.3(BBS5):c.60-19A>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2779993	NM_152384.3(BBS5):c.1005A>G (p.Gly335=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2778396	NM_152384.3(BBS5):c.143-12G>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2777784	NM_152384.3(BBS5):c.825G>T (p.Pro275=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2770456	NM_152384.3(BBS5):c.259-12T>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2770449	NM_152384.3(BBS5):c.682-7C>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2765177	NM_152384.3(BBS5):c.894T>G (p.Ala298=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2759872	NM_152384.3(BBS5):c.729A>T (p.Leu243=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2759371	NM_152384.3(BBS5):c.681+13A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2757492	NM_152384.3(BBS5):c.381A>T (p.Val127=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2754235	NM_152384.3(BBS5):c.60-14T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2751508	NM_152384.3(BBS5):c.237T>C (p.Ile79=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2744571	NM_152384.3(BBS5):c.259-1G>A	BBS5	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2744131	NM_152384.3(BBS5):c.708A>G (p.Lys236=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2741538	NM_152384.3(BBS5):c.180C>T (p.His60=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2740669	NM_152384.3(BBS5):c.682-6T>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2739264	NM_152384.3(BBS5):c.843C>T (p.Val281=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2739162	NM_152384.3(BBS5):c.258+7C>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2738329	NM_152384.3(BBS5):c.900+9C>A	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2726312	NM_152384.3(BBS5):c.618+12C>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2726311	NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)	BBS5, LOC129935068 (Q20*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2725931	NM_152384.3(BBS5):c.999A>G (p.Leu333=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2720901	NM_152384.3(BBS5):c.522+10A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2712822	NM_152384.3(BBS5):c.208+13G>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2707148	NM_152384.3(BBS5):c.6G>C (p.Ser2=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2696571	NM_152384.3(BBS5):c.387-10T>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2695831	NM_152384.3(BBS5):c.492A>C (p.Ile164=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2694520	NM_152384.3(BBS5):c.642A>G (p.Ser214=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign

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