ClinVar for Gene (Select 554250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
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 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 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 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 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 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 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 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 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 2920220	NM_000557.5(GDF5):c.1011C>T (p.His337=)	GDF5, GDF5-AS1	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 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 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 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 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 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 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 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 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 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 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
Select item 2847834	NM_000557.5(GDF5):c.993C>T (p.Arg331=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2844331	NM_000557.5(GDF5):c.1483G>T (p.Val495Leu)	GDF5, GDF5-AS1 (V495L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2836153	NM_000557.5(GDF5):c.783C>G (p.Ala261=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2830695	NM_000557.5(GDF5):c.774G>C (p.Gly258=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2826514	NM_000557.5(GDF5):c.921C>G (p.Ala307=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2816171	NM_000557.5(GDF5):c.1482C>T (p.Val494=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2815505	NM_000557.5(GDF5):c.832C>T (p.Leu278=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2805605	NM_000557.5(GDF5):c.1375G>T (p.Glu459Ter)	GDF5, GDF5-AS1 (E459*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2801994	NM_000557.5(GDF5):c.774G>A (p.Gly258=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2800141	NM_000557.5(GDF5):c.1500C>T (p.Cys500=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2788046	NM_000557.5(GDF5):c.1233C>T (p.Asp411=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2779146	NM_000557.5(GDF5):c.963C>G (p.Ala321=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2761420	NM_000557.5(GDF5):c.903A>G (p.Arg301=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2755414	NM_000557.5(GDF5):c.840G>A (p.Val280=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2754715	NM_000557.5(GDF5):c.1027del (p.Leu343fs)	GDF5, GDF5-AS1 (L343fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2754090	NM_000557.5(GDF5):c.881T>C (p.Phe294Ser)	GDF5, GDF5-AS1 (F294S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2752710	NM_000557.5(GDF5):c.1005G>A (p.Gln335=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2751893	NM_000557.5(GDF5):c.975T>C (p.Arg325=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2749506	NM_000557.5(GDF5):c.1491G>A (p.Ser497=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2748748	NM_000557.5(GDF5):c.1362C>T (p.Asn454=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2742039	NM_000557.5(GDF5):c.1056C>T (p.Asp352=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2733176	NM_000557.5(GDF5):c.1371C>T (p.Asp457=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2733090	NM_000557.5(GDF5):c.1307C>G (p.Pro436Arg)	GDF5, GDF5-AS1 (P436R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2731477	NM_000557.5(GDF5):c.1209G>T (p.Lys403Asn)	GDF5, GDF5-AS1 (K403N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2728101	NM_000557.5(GDF5):c.1245C>T (p.Asp415=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2723468	NM_000557.5(GDF5):c.1458G>A (p.Val486=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2720490	NM_000557.5(GDF5):c.917C>T (p.Ser306Leu)	GDF5, GDF5-AS1 (S306L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2713715	NM_000557.5(GDF5):c.1167C>G (p.Gly389=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2711801	NM_000557.5(GDF5):c.1283A>C (p.His428Pro)	GDF5, GDF5-AS1 (H428P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2696085	NM_000557.5(GDF5):c.1312C>T (p.Arg438Cys)	GDF5, GDF5-AS1 (R438C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2692825	NM_000557.5(GDF5):c.1467G>A (p.Gln489=)	GDF5, GDF5-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652280	NM_000557.5(GDF5):c.1095C>T (p.Asp365=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2631825	NM_000557.5(GDF5):c.1420A>T (p.Ile474Phe)	GDF5, GDF5-AS1 (I474F)	Single nucleotide variant (non-coding transcript variant +1 more)	GDF5-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 2550673	NM_000557.5(GDF5):c.1261C>A (p.Pro421Thr)	GDF5, GDF5-AS1 (P421T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503431	NM_000557.5(GDF5):c.1299C>A (p.Cys433Ter)	GDF5, GDF5-AS1 (C433*)	Single nucleotide variant (non-coding transcript variant +1 more)	Grebe syndrome	GLikely pathogenic
Select item 2425693	NC_000020.10:g.(?_34021707)_(34067990_?)dup	CEP250, GDF5 +1 more	Duplication	not provided	GUncertain significance
Select item 2423326	NC_000020.10:g.(?_34021707)_(34025983_?)del	GDF5, GDF5-AS1	Deletion	not provided	GPathogenic
Select item 2413960	NM_000557.5(GDF5):c.1105G>A (p.Val369Met)	GDF5, GDF5-AS1 (V369M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2335893	NM_000557.5(GDF5):c.1124G>A (p.Ser375Asn)	GDF5, GDF5-AS1 (S375N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293918	NM_000557.5(GDF5):c.841C>T (p.Arg281Cys)	GDF5, GDF5-AS1 (R281C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234540	NM_000557.5(GDF5):c.968A>G (p.Asp323Gly)	GDF5, GDF5-AS1 (D323G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217010	NM_000557.5(GDF5):c.873G>T (p.Trp291Cys)	GDF5, GDF5-AS1 (W291C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211719	NM_000557.5(GDF5):c.1379C>T (p.Ser460Phe)	GDF5, GDF5-AS1 (S460F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2191088	NM_000557.5(GDF5):c.981G>A (p.Leu327=)	GDF5, GDF5-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2190694	NM_000557.5(GDF5):c.856C>T (p.Leu286=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2189016	NM_000557.5(GDF5):c.1070A>G (p.Glu357Gly)	GDF5, GDF5-AS1 (E357G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2184652	NM_000557.5(GDF5):c.1191G>C (p.Lys397Asn)	GDF5, GDF5-AS1 (K397N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2164905	NM_000557.5(GDF5):c.1399G>A (p.Val467Met)	GDF5, GDF5-AS1 (V467M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2160834	NM_000557.5(GDF5):c.861C>T (p.Asp287=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2151558	NM_000557.5(GDF5):c.1272C>T (p.Tyr424=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2130864	NM_000557.5(GDF5):c.957C>T (p.Gly319=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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