GDF5-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152501	GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1	EDEM2, EIF6 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 152798	GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1	C20orf173, CEP250 +35 more	Copy number loss	See cases	GPathogenic
Select item 338309	NM_000557.5(GDF5):c.*520T>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +4 more	GBenign/Likely benign
Select item 895403	NM_000557.5(GDF5):c.*468G>A	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Multiple synostoses syndrome 2 +5 more	GBenign/Likely benign
Select item 338310	NM_000557.5(GDF5):c.*425T>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign
Select item 338311	NM_000557.5(GDF5):c.*389C>T	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Multiple synostoses syndrome 2 +4 more	GBenign/Likely benign
Select item 338312	NM_000557.5(GDF5):c.*387T>C	GDF5-AS1, GDF5	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +4 more	GBenign/Likely benign
Select item 338313	NM_000557.5(GDF5):c.*335A>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Multiple synostoses syndrome 2 +5 more	GBenign
Select item 895466	NM_000557.5(GDF5):c.*259G>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Multiple synostoses syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 338314	NM_000557.5(GDF5):c.*193G>T	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +5 more	GBenign
Select item 338315	NM_000557.5(GDF5):c.*166G>A	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +4 more	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 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 1704939	NM_000557.5(GDF5):c.1492T>C (p.Cys498Arg)	GDF5, GDF5-AS1 (C498R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2116189	NM_000557.5(GDF5):c.1491G>T (p.Ser497=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 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 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 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 698543	NM_000557.5(GDF5):c.1473G>A (p.Glu491=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 8389	NM_000557.5(GDF5):c.1471G>A (p.Glu491Lys)	GDF5, GDF5-AS1 (E491K)	Single nucleotide variant (non-coding transcript variant +1 more)	Symphalangism, proximal, 1B	GPathogenic
Select item 288913	NM_000557.5(GDF5):c.1468T>C (p.Tyr490His)	GDF5, GDF5-AS1 (Y490H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2018429	NM_000557.5(GDF5):c.1465_1467del (p.Gln489del)	GDF5, GDF5-AS1 (Q489del)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1978426	NM_000557.5(GDF5):c.1464G>A (p.Lys488=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 8391	NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter)	GDF5, GDF5-AS1 (Y487*)	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly type C	GPathogenic
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 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 1460790	NM_000557.5(GDF5):c.1449C>A (p.Asn483Lys)	GDF5, GDF5-AS1 (N483K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 265176	NM_000557.5(GDF5):c.1448A>G (p.Asn483Ser)	GDF5, GDF5-AS1 (N483S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
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 8388	NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn)	GDF5-AS1, GDF5 (S475N)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple synostoses syndrome 2	GPathogenic
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 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 1018868	NM_000557.5(GDF5):c.1406C>G (p.Thr469Arg)	GDF5, GDF5-AS1 (T469R)	Single nucleotide variant (missense 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 265991	NM_000557.5(GDF5):c.1397G>A (p.Cys466Tyr)	GDF5-AS1, GDF5 (C466Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly type C	GLikely pathogenic
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 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 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 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 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 896867	NM_000557.5(GDF5):c.1374C>G (p.Pro458=)	GDF5-AS1, GDF5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
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 1961221	NM_000557.5(GDF5):c.1364C>T (p.Ser455Phe)	GDF5, GDF5-AS1 (S455F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1966468	NM_000557.5(GDF5):c.1340C>G (p.Ala447Gly)	GDF5, GDF5-AS1 (A447G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 195094	NM_000557.5(GDF5):c.1334A>G (p.Asn445Ser)	GDF5, GDF5-AS1 (N445S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 2061881	NM_000557.5(GDF5):c.1324G>A (p.Glu442Lys)	GDF5, GDF5-AS1 (E442K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 8381	NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)	GDF5, GDF5-AS1 (L441P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1679416	NM_000557.5(GDF5):c.1319A>T (p.His440Leu)	GDF5, GDF5-AS1 (H440L)	Single nucleotide variant (non-coding transcript variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1679414	NM_000557.5(GDF5):c.1315T>A (p.Ser439Thr)	GDF5, GDF5-AS1 (S439T)	Single nucleotide variant (non-coding transcript variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 8387	NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]	GDF5, GDF5-AS1 (S439T +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Acromesomelic dysplasia 2B	GPathogenic
Select item 1450722	NM_000557.5(GDF5):c.1313_1314delinsTT (p.Arg438Leu)	GDF5, GDF5-AS1 (R438L)	Indel (non-coding transcript variant +1 more)	not provided	GPathogenic
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 8386	NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu)	GDF5, GDF5-AS1 (R438L)	Single nucleotide variant (missense variant +1 more)	Symphalangism, proximal, 1B +1 more	GPathogenic
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 1679417	NM_000557.5(GDF5):c.1309_1311del (p.Leu437del)	GDF5, GDF5-AS1 (L437del)	Deletion (non-coding transcript variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 256714	NM_000557.5(GDF5):c.1309T>C (p.Leu437=)	GDF5-AS1, GDF5	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	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 8394	NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr)	GDF5, GDF5-AS1 (P436T)	Single nucleotide variant (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2B	GPathogenic
Select item 1719189	NM_000557.5(GDF5):c.1305C>G (p.Phe435Leu)	GDF5, GDF5-AS1 (F435L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 284848	NM_000557.5(GDF5):c.1299C>T (p.Cys433=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 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 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 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 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 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 816909	NM_000557.5(GDF5):c.1272C>G (p.Tyr424Ter)	GDF5, GDF5-AS1 (Y424*)	Single nucleotide variant (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2C, Hunter-Thompson type	GUncertain significance
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 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 2067661	NM_000557.5(GDF5):c.1257C>T (p.Ile419=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2045768	NM_000557.5(GDF5):c.1250G>C (p.Trp417Ser)	GDF5, GDF5-AS1 (W417S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	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 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 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 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 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 2034956	NM_000557.5(GDF5):c.1204C>A (p.Arg402=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1019956	NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup)	GDF5-AS1, GDF5	Duplication (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2C, Hunter-Thompson type +9 more	GUncertain significance
Select item 1609828	NM_000557.5(GDF5):c.1200C>T (p.Cys400=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 8379	NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr)	GDF5, GDF5-AS1 (C400Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly type A1C	GLikely pathogenic
Select item 2117004	NM_000557.5(GDF5):c.1196G>A (p.Arg399His)	GDF5, GDF5-AS1 (R399H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 39515	NM_000557.5(GDF5):c.1195C>T (p.Arg399Cys)	GDF5, GDF5-AS1 (R399C)	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly type A1C	GPathogenic
Select item 1309401	NM_000557.5(GDF5):c.1192G>C (p.Ala398Pro)	GDF5, GDF5-AS1 (A398P)	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 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 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 594203	NM_000557.5(GDF5):c.1166G>T (p.Gly389Val)	GDF5, GDF5-AS1 (G389V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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