ClinVar for Gene (Select 8200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345123	NM_000557.5(GDF5):c.518T>C (p.Met173Thr)	GDF5 (M173T)	Single nucleotide variant (missense variant)	GDF5-related disorder	GUncertain significance
Select item 3281140	NM_000557.5(GDF5):c.8T>C (p.Leu3Pro)	GDF5 (L3P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281139	NM_000557.5(GDF5):c.532A>G (p.Arg178Gly)	GDF5 (R178G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281138	NM_000557.5(GDF5):c.568A>G (p.Ser190Gly)	GDF5 (S190G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251353	NM_000557.5(GDF5):c.1313G>A (p.Arg438His)	GDF5, GDF5-AS1 (R438H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3250436	NM_000557.5(GDF5):c.50T>C (p.Leu17Pro)	GDF5 (L17P)	Single nucleotide variant (missense variant)	Grebe syndrome	GUncertain significance
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3237536	NM_000557.5(GDF5):c.358C>T (p.Arg120Trp)	GDF5 (R120W)	Single nucleotide variant (missense variant)	Grebe syndrome	GUncertain significance
Select item 3099254	NM_000557.5(GDF5):c.821C>T (p.Pro274Leu)	GDF5, GDF5-AS1 (P274L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099253	NM_000557.5(GDF5):c.718C>T (p.Arg240Trp)	GDF5 (R240W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099252	NM_000557.5(GDF5):c.667G>C (p.Val223Leu)	GDF5 (V223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099251	NM_000557.5(GDF5):c.137A>G (p.Glu46Gly)	GDF5 (E46G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099250	NM_000557.5(GDF5):c.1172G>A (p.Arg391Gln)	GDF5, GDF5-AS1 (R391Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099249	NM_000557.5(GDF5):c.1096G>C (p.Asp366His)	GDF5, GDF5-AS1 (D366H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065606	NM_000557.5(GDF5):c.303_317del (p.Gly102_Pro106del)	GDF5	Deletion (inframe_deletion)	Osteoarthritis susceptibility 5	GUncertain significance
Select item 3027204	NM_000557.5(GDF5):c.65T>C (p.Ile22Thr)	GDF5 (I22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022287	NM_000557.5(GDF5):c.631+14G>A	GDF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020520	NM_000557.5(GDF5):c.631+10C>G	GDF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018831	NM_000557.5(GDF5):c.687G>A (p.Leu229=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018139	NM_000557.5(GDF5):c.1294C>T (p.Leu432=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3017454	NM_000557.5(GDF5):c.1263C>A (p.Pro421=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3016184	NM_000557.5(GDF5):c.632-16T>C	GDF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015539	NM_000557.5(GDF5):c.456C>T (p.Pro152=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015201	NM_000557.5(GDF5):c.1425C>T (p.Ser475=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3015134	NM_000557.5(GDF5):c.303G>A (p.Pro101=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014971	NM_000557.5(GDF5):c.1332G>A (p.Thr444=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3011009	NM_000557.5(GDF5):c.771C>T (p.Gly257=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3010058	NM_000557.5(GDF5):c.786G>A (p.Gln262=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3003009	NM_000557.5(GDF5):c.24T>C (p.Thr8=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000622	NM_000557.5(GDF5):c.264G>A (p.Gln88=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999118	NM_000557.5(GDF5):c.147G>A (p.Glu49=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997827	NM_000557.5(GDF5):c.745A>G (p.Thr249Ala)	GDF5 (T249A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997799	NM_000557.5(GDF5):c.1142G>A (p.Arg381Gln)	GDF5, GDF5-AS1 (R381Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2997421	NM_000557.5(GDF5):c.631+19A>T	GDF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993387	NM_000557.5(GDF5):c.814C>G (p.Arg272Gly)	GDF5, GDF5-AS1 (R272G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2991366	NM_000557.5(GDF5):c.1503G>A (p.Arg501=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2989575	NM_000557.5(GDF5):c.954G>C (p.Arg318=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2985630	NM_000557.5(GDF5):c.777G>A (p.Arg259=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2982993	NM_000557.5(GDF5):c.889T>C (p.Trp297Arg)	GDF5, GDF5-AS1 (W297R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2982646	NM_000557.5(GDF5):c.1488G>A (p.Glu496=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2980943	NM_000557.5(GDF5):c.243G>A (p.Gly81=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980238	NM_000557.5(GDF5):c.795G>A (p.Leu265=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2978359	NM_000557.5(GDF5):c.1485G>A (p.Val495=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2976778	NM_000557.5(GDF5):c.866C>G (p.Ser289Cys)	GDF5, GDF5-AS1 (S289C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2976750	NM_000557.5(GDF5):c.747G>C (p.Thr249=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976564	NM_000557.5(GDF5):c.1077G>A (p.Lys359=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2975312	NM_000557.5(GDF5):c.1232A>C (p.Asp411Ala)	GDF5, GDF5-AS1 (D411A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2975141	NM_000557.5(GDF5):c.693G>A (p.Lys231=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974702	NM_000557.5(GDF5):c.597C>T (p.Ala199=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973670	NM_000557.5(GDF5):c.307G>A (p.Gly103Ser)	GDF5 (G103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972554	NM_000557.5(GDF5):c.81T>C (p.Gly27=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964573	NM_000557.5(GDF5):c.637C>A (p.Arg213=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964279	NM_000557.5(GDF5):c.732G>A (p.Lys244=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957645	NM_000557.5(GDF5):c.474C>T (p.Pro158=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920220	NM_000557.5(GDF5):c.1011C>T (p.His337=)	GDF5-AS1, GDF5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2917343	NM_000557.5(GDF5):c.1224C>T (p.Asn408=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2916230	NM_000557.5(GDF5):c.391G>A (p.Gly131Ser)	GDF5 (G131S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915734	NM_000557.5(GDF5):c.255C>A (p.Gly85=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914559	NM_000557.5(GDF5):c.1476C>T (p.Asp492=)	GDF5-AS1, GDF5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2913551	NM_000557.5(GDF5):c.573C>T (p.Ser191=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912619	NM_000557.5(GDF5):c.363T>C (p.Thr121=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907132	NM_000557.5(GDF5):c.876G>A (p.Glu292=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2906736	NM_000557.5(GDF5):c.1408C>A (p.Arg470=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2904209	NM_000557.5(GDF5):c.1386A>G (p.Pro462=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2902023	NM_000557.5(GDF5):c.774G>T (p.Gly258=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2901731	NM_000557.5(GDF5):c.567C>T (p.Asn189=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899829	NM_000557.5(GDF5):c.525G>T (p.Ser175=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898376	NM_000557.5(GDF5):c.987C>T (p.Phe329=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2898375	NM_000557.5(GDF5):c.1284C>T (p.His428=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2898374	NM_000557.5(GDF5):c.1296G>A (p.Leu432=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2898373	NM_000557.5(GDF5):c.1374C>T (p.Pro458=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2898372	NM_000557.5(GDF5):c.1383A>G (p.Thr461=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2898371	NM_000557.5(GDF5):c.1452C>T (p.Asn484=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2896277	NM_000557.5(GDF5):c.1044C>A (p.Thr348=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2896172	NM_000557.5(GDF5):c.585G>A (p.Glu195=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893803	NM_000557.5(GDF5):c.816G>A (p.Arg272=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2893802	NM_000557.5(GDF5):c.846C>T (p.Ser282=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2882631	NM_000557.5(GDF5):c.169G>A (p.Val57Ile)	GDF5 (V57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880484	NM_000557.5(GDF5):c.4A>C (p.Arg2=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876384	NM_000557.5(GDF5):c.777G>T (p.Arg259=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2875772	NM_000557.5(GDF5):c.915C>T (p.Asn305=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2874446	NM_000557.5(GDF5):c.466C>A (p.Arg156=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874389	NM_000557.5(GDF5):c.672T>C (p.Phe224=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872922	NM_000557.5(GDF5):c.966G>C (p.Val322=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2872691	NM_000557.5(GDF5):c.445G>A (p.Ala149Thr)	GDF5 (A149T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870492	NM_000557.5(GDF5):c.1068T>C (p.Asn356=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2866964	NM_000557.5(GDF5):c.306C>T (p.Gly102=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866746	NM_000557.5(GDF5):c.917C>A (p.Ser306Ter)	GDF5, GDF5-AS1 (S306*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2866646	NM_000557.5(GDF5):c.549T>C (p.Ala183=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865671	NM_000557.5(GDF5):c.733A>T (p.Lys245Ter)	GDF5 (K245*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2865522	NM_000557.5(GDF5):c.1293G>A (p.Gly431=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2863689	NM_000557.5(GDF5):c.1092G>A (p.Gln364=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2863229	NM_000557.5(GDF5):c.1332G>C (p.Thr444=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2859636	NM_000557.5(GDF5):c.1138C>T (p.Arg380Trp)	GDF5, GDF5-AS1 (R380W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2856841	NM_000557.5(GDF5):c.261A>C (p.Thr87=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854913	NM_000557.5(GDF5):c.735G>A (p.Lys245=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853143	NM_000557.5(GDF5):c.606C>T (p.Ile202=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850190	NM_000557.5(GDF5):c.525G>C (p.Ser175=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850076	NM_000557.5(GDF5):c.592C>T (p.Leu198=)	GDF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848419	NM_000557.5(GDF5):c.1161C>T (p.Arg387=)	GDF5-AS1, GDF5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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