"GeneDx"[submitter] AND "GDF5"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	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 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 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 338314	NM_000557.5(GDF5):c.*193G>T	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +5 more	GBenign
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 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 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 623302	NM_000557.5(GDF5):c.1144del (p.Ala382fs)	GDF5, GDF5-AS1 (A382fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 40891	NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)	GDF5, GDF5-AS1 (R380Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 256713	NM_000557.5(GDF5):c.1017= (p.Lys339=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly +6 more	GBenign
Select item 1186559	NM_000557.5(GDF5):c.891G>A (p.Trp297Ter)	GDF5, GDF5-AS1 (W297*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 338320	NM_000557.5(GDF5):c.855C>T (p.Gly285=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Grebe syndrome +6 more	GConflicting classifications of pathogenicity
Select item 256716	NM_000557.5(GDF5):c.826= (p.Ala276=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GBenign
Select item 817567	NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter)	GDF5, GDF5-AS1 (G271*)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1309373	NM_000557.5(GDF5):c.761C>A (p.Ala254Asp)	GDF5 (A254D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275982	NM_000557.5(GDF5):c.632-91=	GDF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199045	NM_000557.5(GDF5):c.631+102G>A	GDF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 917852	NM_000557.5(GDF5):c.628C>T (p.Gln210Ter)	GDF5 (Q210*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 338321	NM_000557.5(GDF5):c.497C>A (p.Pro166His)	GDF5 (P166H)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 489377	NM_000557.5(GDF5):c.466C>T (p.Arg156Ter)	GDF5 (R156*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 932177	NM_000557.5(GDF5):c.241G>A (p.Gly81Arg)	GDF5 (G81R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 817904	NM_000557.5(GDF5):c.157dup (p.Leu53fs)	GDF5 (L53fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 256712	NM_000557.5(GDF5):c.-48=	GDF5, LOC109461476	Single nucleotide variant (no sequence alteration)	Grebe syndrome +6 more	GBenign
Select item 338326	NM_000557.5(GDF5):c.-135G>A	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 8390	NM_000557.5(GDF5):c.-275=	GDF5, LOC109461476	Single nucleotide variant (no sequence alteration +1 more)	Brachydactyly +5 more	GBenign
Select item 1281726	NM_000557.1(GDF5):c.173_174GT[19]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1268421	NM_000557.1(GDF5):c.173_174GT[20]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1241459	NM_000557.1(GDF5):c.173_174GT[17]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1231359	NM_000557.1(GDF5):c.173_174GT[21]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1280763	NM_000557.1(GDF5):c.173_205del33insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GDF5, LOC109461476	Deletion (intron variant)	not provided	GBenign
Select item 1267133	NM_000557.1(GDF5):c.173_174GT[15]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1255147	NM_000557.1(GDF5):c.63T>G	GDF5, LOC109461476	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 34